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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   ATXN7L1_chr7_105599772_105881599  ATXN7L1_chr7_105599772_105881599 (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 222255
ensemblid ENSG00000146776.15
hgncid 22210
symbol ATXN7L1
name ataxin 7 like 1
refseq_nuc NM_020725.2
refseq_prot NP_065776.1
ensembl_nuc ENST00000419735.8
ensembl_prot ENSP00000410759.3
mane_status MANE Select
chr chr7
start 105604772
end 105876599
strand -
ver v1.2
region chr7:105604772-105876599
region5000 chr7:105599772-105881599
regionname0 ATXN7L1_chr7_105604772_105876599
regionname5000 ATXN7L1_chr7_105599772_105881599

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 861 238 58 59 88 9 22 60 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0002 0/0 861 8 7 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0003 0/0 861 2 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0004 0/0 861 1 0 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0005 0/0 861 1 0 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0006 0/0 861 1 1 0 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0007 0/0 861 1 1 0 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 2586 232 57 58 86 9 20 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
c0002 0/0 2586 8 7 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
c0003 0/0 2586 2 1 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
c0004 0/0 2586 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
c0005 0/0 2586 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
c0006 0/0 2586 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
c0007 0/0 2586 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
c0008 0/0 2586 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
c0009 0/0 2586 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
c0010 0/0 2586 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
c0011 0/0 2586 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
c0012 0/0 2586 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
c0013 0/0 2586 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 3124 30 7 4 13 2 4 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0002 0/0 3126 23 0 3 19 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0003 0/0 3121 20 2 6 11 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0004 0/0 3126 13 5 3 3 0 2 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0005 0/0 3120 9 2 1 5 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0006 0/0 3125 9 3 2 2 0 2 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0007 1/0 3122 9 7 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0008 0/0 3120 9 2 2 5 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0009 0/0 3127 8 0 2 5 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0010 0/0 3125 8 1 2 3 0 2 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0011 0/0 3122 8 0 0 8 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0012 0/0 3127 7 0 6 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0013 0/0 3122 7 2 3 0 1 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0014 0/0 3123 7 0 3 1 2 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0015 0/0 3122 6 0 3 0 2 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0016 0/0 3127 5 3 2 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0017 0/0 3121 4 3 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0018 0/0 3122 4 1 1 2 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0019 0/0 3123 4 0 4 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0020 0/0 3128 3 0 3 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0021 0/0 3123 3 3 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0022 0/0 3121 3 3 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0023 0/0 3125 2 0 0 2 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0024 0/0 3121 2 0 0 2 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0025 0/0 3121 2 0 0 0 1 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0026 0/0 3127 2 0 2 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0027 0/0 3121 2 2 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0028 0/0 3121 2 1 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0029 0/0 3123 2 1 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0030 0/0 3123 2 2 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0031 0/0 3121 2 1 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0032 0/0 3122 2 1 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0033 0/0 3120 2 1 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0034 0/0 3123 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0035 0/1 3127 1 0 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0036 0/0 3122 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0037 0/0 3128 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0038 0/0 3120 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0039 0/0 3123 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0040 0/0 3120 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0041 0/0 3123 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0042 0/0 3122 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0043 0/0 3127 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0044 0/0 3123 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0045 0/0 3122 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0046 0/0 3119 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0047 0/0 3125 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0048 0/0 3120 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0049 0/0 3125 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0050 0/0 3126 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0051 0/0 3129 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0052 0/0 3122 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0053 0/0 3120 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0054 0/0 3121 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0055 0/0 3126 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0056 0/0 3125 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0057 0/0 3123 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0058 0/0 3120 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0059 0/0 3123 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0060 0/0 3124 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0061 0/0 3119 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0062 0/0 3123 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0063 0/0 3124 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
t0064 0/0 3120 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0002 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0003 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0004 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0005 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0006 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0007 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0008 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0009 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0010 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0011 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0012 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0013 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0014 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0015 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0016 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0017 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0018 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0019 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0020 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0021 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0022 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0023 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0024 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0025 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0026 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0027 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0028 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0029 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0030 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0031 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0032 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0033 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0034 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0035 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0036 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0037 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0038 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0039 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0040 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0041 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0042 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0043 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0044 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0045 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0046 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0047 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0048 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0049 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0050 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0051 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0052 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0053 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0054 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0055 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0056 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0057 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0058 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0059 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0060 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0061 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0062 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0063 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0064 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0065 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0066 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0067 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0068 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0069 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0070 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0071 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0072 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0073 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0074 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0075 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0076 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0077 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0078 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0079 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0080 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0081 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0082 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0083 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0084 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0085 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0086 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0087 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0088 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0089 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0090 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0091 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0092 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0093 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0094 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0095 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0096 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0097 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0098 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0099 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0100 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0101 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0102 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0103 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0104 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0105 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0106 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0107 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0108 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0109 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0110 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0111 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0112 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0113 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0114 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0115 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0116 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0117 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0118 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0119 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0120 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0121 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0122 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0123 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0124 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0125 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0126 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0127 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0128 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0129 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0130 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0131 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0132 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0133 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0134 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0135 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0136 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0137 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0138 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0139 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0140 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0141 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0142 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0143 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0144 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0145 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0146 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0147 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0148 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0149 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0150 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0151 0/1 1 0 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0152 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0153 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0154 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0155 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0156 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0157 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0158 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0159 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0160 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0161 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0162 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0163 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0164 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0165 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0166 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0167 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0168 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0169 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0170 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0171 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0172 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0173 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0174 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0175 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0176 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0177 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0178 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0179 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0180 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0181 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0182 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0183 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0184 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0185 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0186 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0187 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0188 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0189 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0190 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0191 1/0 1 0 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0192 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0193 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0194 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0195 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0196 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0197 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0198 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0199 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0200 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0201 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0202 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0203 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0204 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0205 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0206 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0207 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0208 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0209 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0210 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0211 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0212 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0213 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0214 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0215 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0216 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0217 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0218 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0219 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0220 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0221 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0222 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0223 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0224 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0225 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0226 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0227 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0228 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0229 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0230 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0231 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0232 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0233 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0234 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0235 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0236 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0237 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0238 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0239 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0240 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0241 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0242 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0243 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0244 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0245 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0246 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0247 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0248 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0249 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0250 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0251 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
g0252 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 2586 232 57 58 86 9 20 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0004 0/0 2586 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0005 0/0 2586 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0006 0/0 2586 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0007 0/0 2586 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0008 0/0 2586 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0012 0/0 2586 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0002c0002 0/0 2586 8 7 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0003c0003 0/0 2586 2 1 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0004c0013 0/0 2586 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0005c0011 0/0 2586 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0006c0010 0/0 2586 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0007c0009 0/0 2586 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 5709 29 7 4 13 2 3 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0002 0/0 5711 23 0 3 19 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0003 0/0 5706 19 2 6 10 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0004 0/0 5711 13 5 3 3 0 2 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0005 0/0 5705 8 1 1 5 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0006 0/0 5710 9 3 2 2 0 2 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0007 1/0 5707 7 5 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0008 0/0 5705 8 2 1 5 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0009 0/0 5712 8 0 2 5 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0010 0/0 5710 7 1 2 3 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0011 0/0 5707 8 0 0 8 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0012 0/0 5712 7 0 6 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0013 0/0 5707 7 2 3 0 1 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0014 0/0 5708 6 0 3 0 2 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0015 0/0 5707 6 0 3 0 2 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0016 0/0 5712 5 3 2 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0017 0/0 5706 4 3 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0018 0/0 5707 4 1 1 2 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0019 0/0 5708 4 0 4 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0020 0/0 5713 2 0 2 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0021 0/0 5708 3 3 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0022 0/0 5706 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0023 0/0 5710 2 0 0 2 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0024 0/0 5706 2 0 0 2 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0025 0/0 5706 2 0 0 0 1 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0026 0/0 5712 2 0 2 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0027 0/0 5706 2 2 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0028 0/0 5706 2 1 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0029 0/0 5708 2 1 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0031 0/0 5706 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0033 0/0 5705 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0034 0/0 5708 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0035 0/1 5712 1 0 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0037 0/0 5713 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0039 0/0 5708 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0040 0/0 5705 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0041 0/0 5708 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0042 0/0 5707 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0043 0/0 5712 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0044 0/0 5708 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0045 0/0 5707 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0046 0/0 5704 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0047 0/0 5710 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0048 0/0 5705 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0049 0/0 5710 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0050 0/0 5711 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0051 0/0 5714 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0052 0/0 5707 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0053 0/0 5705 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0054 0/0 5706 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0055 0/0 5711 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0056 0/0 5710 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0057 0/0 5708 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0058 0/0 5705 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0060 0/0 5709 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0061 0/0 5704 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0062 0/0 5708 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0063 0/0 5709 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0001t0064 0/0 5705 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0004t0010 0/0 5710 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0005t0007 0/0 5707 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0006t0001 0/0 5709 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0007t0038 0/0 5705 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0008t0014 0/0 5708 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0001c0012t0003 0/0 5706 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0002c0002t0022 0/0 5706 2 2 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0002c0002t0030 0/0 5708 2 2 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0002c0002t0032 0/0 5707 2 1 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0002c0002t0033 0/0 5705 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0002c0002t0059 0/0 5708 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0003c0003t0005 0/0 5705 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0003c0003t0020 0/0 5713 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0004c0013t0036 0/0 5707 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0005c0011t0008 0/0 5705 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0006c0010t0031 0/0 5706 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599
a0007c0009t0007 0/0 5707 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 copy fasta chr7 105599772 105881599

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0003 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0005 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0009 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0017 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0026 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0033 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0044 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0059 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0074 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0078 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0080 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0081 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0082 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0085 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0088 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0102 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0106 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0108 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0119 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0145 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0163 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0174 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0181 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0185 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0201 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0205 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0214 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0222 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0001g0225 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0002 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0010 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0016 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0021 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0042 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0048 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0049 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0053 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0056 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0142 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0153 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0160 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0162 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0167 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0173 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0177 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0179 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0186 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0187 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0188 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0231 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0239 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0002g0245 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0004 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0006 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0011 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0029 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0030 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0043 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0050 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0070 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0071 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0076 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0086 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0090 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0100 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0118 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0147 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0150 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0171 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0235 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0003g0238 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0004g0023 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0004g0039 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0004g0084 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0004g0124 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0004g0127 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0004g0128 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0004g0135 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0004g0137 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0004g0198 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0004g0203 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0004g0211 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0004g0219 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0004g0246 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0005g0014 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0005g0025 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0005g0027 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0005g0126 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0005g0159 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0005g0182 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0005g0206 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0005g0248 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0006g0001 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0006g0022 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0006g0024 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0006g0034 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0006g0067 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0006g0116 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0006g0117 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0006g0168 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0006g0197 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0007g0057 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0007g0144 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0007g0191 1/0 1 0 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0007g0202 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0007g0217 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0007g0218 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0007g0223 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0008g0015 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0008g0045 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0008g0073 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0008g0075 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0008g0089 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0008g0175 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0008g0216 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0008g0249 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0009g0013 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0009g0020 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0009g0054 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0009g0055 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0009g0097 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0009g0103 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0009g0141 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0009g0146 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0010g0032 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0010g0051 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0010g0091 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0010g0093 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0010g0095 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0010g0111 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0010g0228 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0011g0012 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0011g0099 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0011g0101 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0011g0143 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0011g0152 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0011g0157 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0011g0164 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0011g0170 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0012g0028 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0012g0052 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0012g0064 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0012g0115 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0012g0122 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0012g0232 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0012g0244 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0013g0129 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0013g0156 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0013g0236 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0013g0241 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0013g0242 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0013g0243 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0013g0251 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0014g0038 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0014g0083 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0014g0123 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0014g0166 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0014g0233 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0014g0237 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0015g0019 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0015g0060 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0015g0109 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0015g0125 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0015g0140 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0015g0193 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0016g0061 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0016g0069 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0016g0136 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0016g0139 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0016g0176 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0017g0113 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0017g0194 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0017g0195 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0017g0213 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0018g0046 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0018g0058 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0018g0094 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0018g0131 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0019g0062 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0019g0063 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0019g0178 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0019g0230 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0020g0120 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0020g0169 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0021g0130 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0021g0184 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0021g0227 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0022g0224 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0023g0183 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0023g0247 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0024g0077 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0024g0250 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0025g0104 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0025g0240 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0026g0189 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0026g0234 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0027g0008 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0027g0134 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0028g0037 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0028g0114 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0029g0072 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0029g0215 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0031g0172 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0033g0040 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0034g0068 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0035g0151 0/1 1 0 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0037g0065 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0039g0180 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0040g0207 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0041g0196 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0042g0161 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0043g0105 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0044g0110 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0045g0190 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0046g0138 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0047g0121 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0048g0132 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0049g0148 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0050g0155 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0051g0035 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0052g0133 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0053g0031 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0054g0087 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0055g0252 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0056g0210 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0057g0229 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0058g0018 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0060g0192 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0061g0036 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0062g0007 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0063g0041 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0001t0064g0098 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0004t0010g0154 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0005t0007g0209 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0006t0001g0112 0/0 1 0 0 0 0 1 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0007t0038g0158 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0008t0014g0165 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0001c0012t0003g0047 0/0 1 0 0 1 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0002c0002t0022g0066 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0002c0002t0022g0220 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0002c0002t0030g0208 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0002c0002t0030g0212 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0002c0002t0032g0149 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0002c0002t0032g0226 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0002c0002t0033g0221 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0002c0002t0059g0200 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0003c0003t0005g0079 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0003c0003t0020g0199 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0004c0013t0036g0107 0/0 1 0 0 0 1 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0005c0011t0008g0092 0/0 1 0 1 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0006c0010t0031g0204 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
a0007c0009t0007g0096 0/0 1 1 0 0 0 0 ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00280 hp1 a0004 c0013 t0036 g0107 EUR FIN ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00280 hp2 a0001 c0001 t0014 g0083 EUR FIN ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00323 hp1 a0001 c0001 t0005 g0182 EUR FIN ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00323 hp2 a0001 c0001 t0014 g0237 EUR FIN ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00558 hp1 a0001 c0001 t0003 g0090 EAS CHS ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00558 hp2 a0001 c0001 t0011 g0152 EAS CHS ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00642 hp1 a0001 c0001 t0003 g0086 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00642 hp2 a0001 c0001 t0001 g0059 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00673 hp1 a0001 c0001 t0024 g0077 EAS CHS ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00673 hp2 a0001 c0001 t0010 g0091 EAS CHS ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00735 hp1 a0001 c0001 t0004 g0198 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00735 hp2 a0001 c0001 t0012 g0052 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00738 hp1 a0001 c0001 t0013 g0236 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00738 hp2 a0001 c0001 t0010 g0111 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00741 hp1 a0001 c0001 t0006 g0168 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG00741 hp2 a0001 c0001 t0019 g0062 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01069 hp1 a0001 c0001 t0003 g0150 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01069 hp2 a0001 c0001 t0004 g0084 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01074 hp1 a0001 c0001 t0017 g0194 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01074 hp2 a0002 c0002 t0032 g0226 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01081 hp1 a0001 c0001 t0003 g0076 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01081 hp2 a0001 c0001 t0033 g0040 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01099 hp1 a0001 c0001 t0049 g0148 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01099 hp2 a0001 c0001 t0061 g0036 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01109 hp1 a0001 c0001 t0026 g0189 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01109 hp2 a0001 c0001 t0019 g0230 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01167 hp1 a0001 c0001 t0012 g0232 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01167 hp2 a0001 c0001 t0014 g0123 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01168 hp1 a0001 c0001 t0001 g0119 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01168 hp2 a0001 c0001 t0008 g0073 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01169 hp1 a0001 c0001 t0012 g0028 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01169 hp2 a0001 c0001 t0003 g0118 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01175 hp1 a0001 c0001 t0015 g0060 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01175 hp2 a0001 c0001 t0006 g0067 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01192 hp1 a0001 c0001 t0020 g0120 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01192 hp2 a0001 c0001 t0016 g0176 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01243 hp1 a0001 c0001 t0015 g0193 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01243 hp2 a0001 c0001 t0012 g0244 AMR PUR ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01255 hp1 a0001 c0001 t0004 g0128 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01255 hp2 a0001 c0001 t0057 g0229 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01256 hp1 a0001 c0001 t0015 g0109 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01256 hp2 a0001 c0001 t0003 g0235 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01257 hp1 a0001 c0001 t0012 g0122 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01257 hp2 a0001 c0001 t0031 g0172 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01258 hp1 a0001 c0001 t0020 g0169 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01258 hp2 a0001 c0001 t0013 g0241 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01261 hp1 a0001 c0001 t0001 g0108 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01261 hp2 a0001 c0001 t0019 g0063 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01346 hp1 a0001 c0001 t0009 g0097 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01346 hp2 a0001 c0001 t0051 g0035 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01358 hp1 a0003 c0003 t0020 g0199 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01358 hp2 a0001 c0001 t0047 g0121 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01433 hp1 a0001 c0001 t0002 g0239 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01433 hp2 a0001 c0001 t0002 g0231 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01496 hp1 a0001 c0001 t0013 g0242 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01496 hp2 a0001 c0001 t0002 g0010 AMR CLM ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01515 hp1 a0001 c0001 t0013 g0243 EUR IBS ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01515 hp2 a0001 c0001 t0015 g0140 EUR IBS ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01516 hp1 a0001 c0001 t0025 g0104 EUR IBS ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01516 hp2 a0001 c0001 t0001 g0080 EUR IBS ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01517 hp1 a0001 c0001 t0001 g0081 EUR IBS ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01517 hp2 a0001 c0001 t0015 g0125 EUR IBS ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01884 hp1 a0001 c0001 t0055 g0252 AFR ACB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01884 hp2 a0001 c0001 t0053 g0031 AFR ACB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01891 hp1 a0001 c0005 t0007 g0209 AFR ACB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01891 hp2 a0001 c0001 t0045 g0190 AFR ACB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01934 hp1 a0001 c0001 t0019 g0178 AMR PEL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01934 hp2 a0001 c0001 t0005 g0027 AMR PEL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01943 hp1 a0001 c0001 t0012 g0115 AMR PEL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01943 hp2 a0001 c0007 t0038 g0158 AMR PEL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01952 hp1 a0001 c0001 t0016 g0061 AMR PEL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01952 hp2 a0001 c0001 t0014 g0233 AMR PEL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01978 hp1 a0001 c0001 t0018 g0094 AMR PEL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01978 hp2 a0001 c0001 t0010 g0093 AMR PEL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01981 hp1 a0001 c0001 t0009 g0020 AMR PEL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG01981 hp2 a0001 c0001 t0014 g0166 AMR PEL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02015 hp1 a0001 c0001 t0005 g0126 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02015 hp2 a0001 c0001 t0011 g0099 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02027 hp1 a0001 c0001 t0023 g0183 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02027 hp2 a0001 c0001 t0018 g0046 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02055 hp1 a0001 c0001 t0022 g0224 AFR ACB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02055 hp2 a0001 c0001 t0005 g0206 AFR ACB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02056 hp1 a0001 c0001 t0024 g0250 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02056 hp2 a0001 c0001 t0006 g0001 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02071 hp1 a0001 c0001 t0002 g0048 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02071 hp2 a0001 c0001 t0005 g0159 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02083 hp1 a0001 c0001 t0001 g0174 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02083 hp2 a0001 c0001 t0043 g0105 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02129 hp1 a0001 c0001 t0002 g0002 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02129 hp2 a0001 c0001 t0001 g0163 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02132 hp1 a0001 c0001 t0001 g0106 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02132 hp2 a0001 c0001 t0003 g0043 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02135 hp1 a0001 c0001 t0023 g0247 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02135 hp2 a0001 c0001 t0064 g0098 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02145 hp1 a0001 c0001 t0060 g0192 AFR ACB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02145 hp2 a0001 c0001 t0063 g0041 AFR ACB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02148 hp1 a0005 c0011 t0008 g0092 AMR PEL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02148 hp2 a0001 c0001 t0026 g0234 AMR PEL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02155 hp1 a0001 c0001 t0005 g0014 EAS CDX ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02155 hp2 a0001 c0001 t0003 g0100 EAS CDX ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02165 hp1 a0001 c0001 t0002 g0016 EAS CDX ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02165 hp2 a0001 c0001 t0002 g0173 EAS CDX ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02280 hp1 a0001 c0001 t0037 g0065 AFR ACB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02280 hp2 a0001 c0001 t0001 g0222 AFR ACB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02300 hp1 a0001 c0001 t0003 g0171 AMR PEL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02300 hp2 a0001 c0001 t0001 g0082 AMR PEL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02451 hp1 a0001 c0001 t0006 g0117 AFR ACB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02451 hp2 a0001 c0001 t0001 g0205 AFR ACB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02523 hp1 a0001 c0001 t0008 g0089 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02523 hp2 a0001 c0001 t0048 g0132 EAS KHV ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02572 hp1 a0001 c0001 t0034 g0068 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02572 hp2 a0001 c0001 t0018 g0058 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02602 hp1 a0001 c0001 t0012 g0064 SAS PJL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02602 hp2 a0001 c0001 t0050 g0155 SAS PJL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02622 hp1 a0001 c0001 t0004 g0203 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02622 hp2 a0001 c0001 t0021 g0227 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02630 hp1 a0001 c0001 t0017 g0213 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02630 hp2 a0007 c0009 t0007 g0096 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02647 hp1 a0001 c0001 t0008 g0216 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02647 hp2 a0001 c0001 t0001 g0201 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02723 hp1 a0001 c0001 t0004 g0219 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02723 hp2 a0002 c0002 t0022 g0220 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02735 hp1 a0001 c0001 t0028 g0037 SAS PJL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02735 hp2 a0001 c0001 t0001 g0003 SAS PJL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02738 hp1 a0001 c0001 t0006 g0022 SAS PJL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02738 hp2 a0001 c0001 t0029 g0072 SAS PJL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02818 hp1 a0001 c0001 t0001 g0181 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02818 hp2 a0002 c0002 t0032 g0149 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02895 hp1 a0001 c0001 t0007 g0202 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02895 hp2 a0001 c0001 t0013 g0156 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02896 hp1 a0001 c0001 t0001 g0145 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02896 hp2 a0002 c0002 t0030 g0208 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02965 hp1 a0001 c0001 t0044 g0110 AFR ESN ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02965 hp2 a0001 c0001 t0007 g0217 AFR ESN ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03041 hp1 a0002 c0002 t0059 g0200 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03041 hp2 a0001 c0001 t0007 g0218 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03098 hp1 a0001 c0001 t0039 g0180 AFR MSL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03098 hp2 a0001 c0001 t0040 g0207 AFR MSL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03130 hp1 a0001 c0001 t0016 g0069 AFR ESN ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03130 hp2 a0001 c0001 t0008 g0075 AFR ESN ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03139 hp1 a0001 c0001 t0027 g0134 AFR ESN ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03139 hp2 a0001 c0001 t0027 g0008 AFR ESN ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03209 hp1 a0001 c0001 t0017 g0195 AFR MSL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03209 hp2 a0001 c0001 t0017 g0113 AFR MSL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03225 hp1 a0002 c0002 t0022 g0066 AFR MSL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03225 hp2 a0001 c0001 t0056 g0210 AFR MSL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03239 hp1 a0001 c0001 t0004 g0124 SAS PJL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03239 hp2 a0001 c0001 t0009 g0013 SAS PJL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03490 hp1 a0001 c0001 t0025 g0240 SAS PJL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03490 hp2 a0001 c0004 t0010 g0154 SAS PJL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03491 hp1 a0001 c0001 t0003 g0238 SAS PJL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03491 hp2 a0001 c0006 t0001 g0112 SAS PJL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03516 hp1 a0001 c0001 t0007 g0223 AFR ESN ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03516 hp2 a0001 c0001 t0052 g0133 AFR ESN ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03540 hp1 a0001 c0001 t0010 g0228 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03540 hp2 a0002 c0002 t0033 g0221 AFR GWD ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03579 hp1 a0001 c0001 t0004 g0137 AFR MSL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03579 hp2 a0006 c0010 t0031 g0204 AFR MSL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03669 hp1 a0001 c0001 t0004 g0127 SAS PJL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03669 hp2 a0001 c0001 t0013 g0129 SAS PJL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03688 hp1 a0001 c0001 t0001 g0026 SAS STU ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03688 hp2 a0001 c0001 t0001 g0017 SAS STU ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03831 hp1 a0001 c0001 t0058 g0018 SAS BEB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03831 hp2 a0001 c0001 t0014 g0038 SAS BEB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03942 hp1 a0001 c0001 t0015 g0019 SAS BEB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03942 hp2 a0001 c0001 t0010 g0051 SAS BEB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG04199 hp1 a0001 c0001 t0002 g0245 SAS STU ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG04199 hp2 a0001 c0001 t0006 g0024 SAS STU ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18522 hp1 a0001 c0001 t0004 g0211 AFR YRI ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18522 hp2 a0001 c0001 t0001 g0225 AFR YRI ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18747 hp1 a0001 c0001 t0018 g0131 EAS CHB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18747 hp2 a0001 c0001 t0001 g0078 EAS CHB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18906 hp1 a0001 c0001 t0016 g0139 AFR YRI ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18906 hp2 a0001 c0001 t0016 g0136 AFR YRI ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18943 hp1 a0001 c0001 t0003 g0011 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18943 hp2 a0001 c0001 t0009 g0103 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18945 hp1 a0001 c0001 t0002 g0186 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18945 hp2 a0001 c0001 t0011 g0101 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18948 hp1 a0001 c0001 t0002 g0177 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18948 hp2 a0001 c0008 t0014 g0165 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18950 hp1 a0001 c0001 t0011 g0170 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18950 hp2 a0001 c0001 t0001 g0085 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18954 hp1 a0001 c0001 t0001 g0009 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18954 hp2 a0001 c0001 t0002 g0179 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18957 hp1 a0001 c0001 t0003 g0029 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18957 hp2 a0001 c0001 t0001 g0074 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18962 hp1 a0001 c0001 t0002 g0160 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18962 hp2 a0001 c0001 t0008 g0015 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18970 hp1 a0001 c0001 t0011 g0012 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18970 hp2 a0001 c0001 t0001 g0088 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18971 hp1 a0001 c0001 t0001 g0033 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18971 hp2 a0001 c0001 t0003 g0030 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18989 hp1 a0001 c0001 t0001 g0102 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18989 hp2 a0001 c0001 t0002 g0042 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18994 hp1 a0001 c0001 t0001 g0005 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18994 hp2 a0001 c0001 t0002 g0187 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18995 hp1 a0001 c0001 t0009 g0054 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA18995 hp2 a0001 c0001 t0054 g0087 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19000 hp1 a0001 c0001 t0010 g0095 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19000 hp2 a0001 c0001 t0062 g0007 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19003 hp1 a0001 c0001 t0004 g0246 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19003 hp2 a0001 c0001 t0011 g0157 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19005 hp1 a0001 c0001 t0007 g0057 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19005 hp2 a0001 c0001 t0002 g0053 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19009 hp1 a0001 c0001 t0003 g0004 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19009 hp2 a0001 c0001 t0001 g0185 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19010 hp1 a0001 c0001 t0042 g0161 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19010 hp2 a0001 c0001 t0003 g0006 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19030 hp1 a0001 c0001 t0029 g0215 AFR LWK ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19030 hp2 a0001 c0001 t0041 g0196 AFR LWK ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19043 hp1 a0001 c0001 t0028 g0114 AFR LWK ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19043 hp2 a0001 c0001 t0006 g0116 AFR LWK ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19054 hp1 a0001 c0001 t0002 g0162 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19054 hp2 a0001 c0012 t0003 g0047 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19056 hp1 a0001 c0001 t0002 g0153 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19056 hp2 a0001 c0001 t0001 g0044 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19060 hp1 a0001 c0001 t0005 g0248 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19060 hp2 a0001 c0001 t0006 g0034 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19066 hp1 a0001 c0001 t0010 g0032 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19066 hp2 a0001 c0001 t0002 g0056 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19067 hp1 a0001 c0001 t0005 g0025 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19067 hp2 a0001 c0001 t0008 g0175 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19068 hp1 a0001 c0001 t0003 g0050 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19068 hp2 a0001 c0001 t0003 g0147 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19074 hp1 a0001 c0001 t0009 g0141 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19074 hp2 a0001 c0001 t0008 g0249 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19079 hp1 a0001 c0001 t0008 g0045 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19079 hp2 a0001 c0001 t0002 g0049 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19085 hp1 a0001 c0001 t0002 g0021 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19085 hp2 a0001 c0001 t0011 g0164 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19086 hp1 a0001 c0001 t0004 g0039 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19086 hp2 a0001 c0001 t0009 g0055 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19087 hp1 a0001 c0001 t0004 g0023 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19087 hp2 a0001 c0001 t0009 g0146 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19088 hp1 a0001 c0001 t0002 g0167 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19088 hp2 a0001 c0001 t0002 g0142 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19091 hp1 a0001 c0001 t0002 g0188 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19091 hp2 a0001 c0001 t0011 g0143 EAS JPT ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19240 hp1 a0001 c0001 t0021 g0184 AFR YRI ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA19240 hp2 a0001 c0001 t0021 g0130 AFR YRI ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA20129 hp1 a0001 c0001 t0046 g0138 AFR ASW ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA20129 hp2 a0001 c0001 t0007 g0144 AFR ASW ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02559 hp1 a0001 c0001 t0003 g0070 AFR ACB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG02559 hp2 a0001 c0001 t0006 g0197 AFR ACB ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03471 hp1 a0001 c0001 t0003 g0071 AFR MSL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG03471 hp2 a0002 c0002 t0030 g0212 AFR MSL ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG06807 hp1 a0001 c0001 t0001 g0214 AFR USA ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
HG06807 hp2 a0003 c0003 t0005 g0079 AFR USA ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA20300 hp1 a0001 c0001 t0013 g0251 AFR USA ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
NA20300 hp2 a0001 c0001 t0004 g0135 AFR USA ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
homoSapiens_chm13v2 hp1 a0001 c0001 t0035 g0151 REF REF ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599
homoSapiens_grch38 hp1 a0001 c0001 t0007 g0191 REF REF ATXN7L1_chr7_105599772_105881599 ATXN7L1 chr7 105599772 105881599

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
chr7:105613935 C
C
 T
T
 1 a0002
a0002
 8 HG01074.hp2
HG02723.hp2
HG02818.hp2
others(5): Show 
HG01074.hp2
HG02723.hp2
HG02818.hp2
HG02896.hp2
HG03041.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp2
 missense_variant MODERATE c.2399G>A
c.2399G>A
 p.Ser800Asn
p.Ser800Asn
 ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/12 2440/5707 2399/2586 800/861 chr7 105613935
chr7:105614172 G
G
 A
A
 1 a0007
a0007
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.2162C>T
c.2162C>T
 p.Ser721Leu
p.Ser721Leu
 ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/12 2203/5707 2162/2586 721/861 chr7 105614172
chr7:105614431 G
G
 A
A
 1 a0006
a0006
 1 HG03579.hp2
HG03579.hp2
 missense_variant MODERATE c.1903C>T
c.1903C>T
 p.Arg635Cys
p.Arg635Cys
 ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/12 1944/5707 1903/2586 635/861 chr7 105614431
chr7:105614433 G
G
 C
C
 1 a0005
a0005
 1 HG02148.hp1
HG02148.hp1
 missense_variant MODERATE c.1901C>G
c.1901C>G
 p.Thr634Ser
p.Thr634Ser
 ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/12 1942/5707 1901/2586 634/861 chr7 105614433
chr7:105624248 T
T
 C
C
 1 a0003
a0003
 2 HG01358.hp1
HG06807.hp2
HG01358.hp1
HG06807.hp2
 missense_variant MODERATE c.1222A>G
c.1222A>G
 p.Ile408Val
p.Ile408Val
 ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/12 1263/5707 1222/2586 408/861 chr7 105624248
chr7:105665153 G
G
 A
A
 1 a0004
a0004
 1 HG00280.hp1
HG00280.hp1
 missense_variant MODERATE c.491C>T
c.491C>T
 p.Pro164Leu
p.Pro164Leu
 ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/12 532/5707 491/2586 164/861 chr7 105665153

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
chr7:105613916 C
C
 T
T
 1 a0001c0007
a0001c0007
 1 HG01943.hp2
HG01943.hp2
 synonymous_variant LOW c.2418G>A
c.2418G>A
 p.Pro806Pro
p.Pro806Pro
 ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/12 2459/5707 2418/2586 806/861 chr7 105613916
chr7:105614165 G
G
 A
A
 1 a0001c0008
a0001c0008
 1 NA18948.hp2
NA18948.hp2
 synonymous_variant LOW c.2169C>T
c.2169C>T
 p.Pro723Pro
p.Pro723Pro
 ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/12 2210/5707 2169/2586 723/861 chr7 105614165
chr7:105614618 C
C
 T
T
 1 a0001c0006
a0001c0006
 1 HG03491.hp2
HG03491.hp2
 synonymous_variant LOW c.1716G>A
c.1716G>A
 p.Pro572Pro
p.Pro572Pro
 ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/12 1757/5707 1716/2586 572/861 chr7 105614618
chr7:105624189 C
C
 T
T
 1 a0001c0005
a0001c0005
 1 HG01891.hp1
HG01891.hp1
 synonymous_variant LOW c.1281G>A
c.1281G>A
 p.Pro427Pro
p.Pro427Pro
 ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/12 1322/5707 1281/2586 427/861 chr7 105624189
chr7:105624261 T
T
 C
C
 1 a0001c0012
a0001c0012
 1 NA19054.hp2
NA19054.hp2
 synonymous_variant LOW c.1209A>G
c.1209A>G
 p.Ser403Ser
p.Ser403Ser
 ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/12 1250/5707 1209/2586 403/861 chr7 105624261
chr7:105638451 C
C
 T
T
 1 a0001c0004
a0001c0004
 1 HG03490.hp2
HG03490.hp2
 synonymous_variant LOW c.1104G>A
c.1104G>A
 p.Pro368Pro
p.Pro368Pro
 ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/12 1145/5707 1104/2586 368/861 chr7 105638451

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
chr7:105604837 T
T
 C
C
 1 a0001c0001t0047
a0001c0001t0047
 1 HG01358.hp2
HG01358.hp2
 3_prime_UTR_variant MODIFIER c.*3015A>G
c.*3015A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 3015 chr7 105604837
chr7:105605042 C
C
 CT
CT
 12 a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
others(9): Show 
a0001c0001t0018
a0001c0001t0019
a0001c0001t0022
a0001c0001t0029
a0001c0001t0034
a0001c0001t0041
a0001c0001t0052
a0001c0001t0057
a0001c0001t0060
a0002c0002t0022
a0002c0002t0030
a0002c0002t0059
 21 HG00741.hp2
HG01109.hp2
HG01255.hp2
others(18): Show 
HG00741.hp2
HG01109.hp2
HG01255.hp2
HG01261.hp2
HG01934.hp1
HG01978.hp1
HG02027.hp2
HG02055.hp1
HG02145.hp1
HG02572.hp1
HG02572.hp2
HG02723.hp2
HG02738.hp2
HG02896.hp2
HG03041.hp1
HG03225.hp1
HG03471.hp2
HG03516.hp2
NA18747.hp1
NA19030.hp1
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*2809dupA
c.*2809dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2809 chr7 105605042
chr7:105605042 C
C
 CTT
CTT
 4 a0001c0001t0011
a0001c0001t0039
a0001c0001t0062
others(1): Show 
a0001c0001t0011
a0001c0001t0039
a0001c0001t0062
a0001c0001t0063
 11 HG00558.hp2
HG02015.hp2
HG02145.hp2
others(8): Show 
HG00558.hp2
HG02015.hp2
HG02145.hp2
HG03098.hp1
NA18945.hp2
NA18950.hp1
NA18970.hp1
NA19000.hp2
NA19003.hp2
NA19085.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*2808_*2809dupAA
c.*2808_*2809dupAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2809 chr7 105605042
chr7:105605042 C
C
 CTTTT
CTTTT
 5 a0001c0001t0001
a0001c0001t0006
a0001c0001t0050
others(2): Show 
a0001c0001t0001
a0001c0001t0006
a0001c0001t0050
a0001c0001t0056
a0001c0006t0001
 41 HG00642.hp2
HG00741.hp1
HG01168.hp1
others(38): Show 
HG00642.hp2
HG00741.hp1
HG01168.hp1
HG01175.hp2
HG01261.hp1
HG01516.hp2
HG01517.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02602.hp2
HG02647.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02896.hp1
HG03225.hp2
HG03491.hp2
HG03688.hp1
HG03688.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp2
 3_prime_UTR_variant MODIFIER c.*2806_*2809dupAAAA
c.*2806_*2809dupAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2809 chr7 105605042
chr7:105605042 C
C
 CTTTTT
CTTTTT
 10 a0001c0001t0004
a0001c0001t0010
a0001c0001t0012
others(7): Show 
a0001c0001t0004
a0001c0001t0010
a0001c0001t0012
a0001c0001t0016
a0001c0001t0035
a0001c0001t0037
a0001c0001t0047
a0001c0001t0049
a0001c0001t0055
a0001c0004t0010
 38 HG00673.hp2
HG00735.hp1
HG00735.hp2
others(35): Show 
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01099.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01358.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG01978.hp2
HG02280.hp1
HG02602.hp1
HG02622.hp1
HG02723.hp1
HG03130.hp1
HG03239.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03942.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19000.hp1
NA19003.hp1
NA19066.hp1
NA19086.hp1
NA19087.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2805_*2809dupAAAA
others(1): Show 
c.*2805_*2809dupAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2809 chr7 105605042
chr7:105605042 C
C
 CTTTTTT
CTTTTTT
 4 a0001c0001t0020
a0001c0001t0026
a0001c0001t0051
others(1): Show 
a0001c0001t0020
a0001c0001t0026
a0001c0001t0051
a0003c0003t0020
 6 HG01109.hp1
HG01192.hp1
HG01258.hp1
others(3): Show 
HG01109.hp1
HG01192.hp1
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG02148.hp2
 3_prime_UTR_variant MODIFIER c.*2804_*2809dupAAAA
others(2): Show 
c.*2804_*2809dupAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2809 chr7 105605042
chr7:105605042 CT
CT
 C
C
 5 a0001c0001t0024
a0001c0001t0046
a0001c0001t0053
others(2): Show 
a0001c0001t0024
a0001c0001t0046
a0001c0001t0053
a0001c0001t0054
a0001c0001t0061
 6 HG00673.hp1
HG01099.hp2
HG01884.hp2
others(3): Show 
HG00673.hp1
HG01099.hp2
HG01884.hp2
HG02056.hp1
NA18995.hp2
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*2809delA
c.*2809delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2809 chr7 105605042
chr7:105605042 CTT
CTT
 C
C
 5 a0001c0001t0005
a0001c0001t0025
a0001c0001t0040
others(2): Show 
a0001c0001t0005
a0001c0001t0025
a0001c0001t0040
a0001c0001t0058
a0003c0003t0005
 13 HG00323.hp1
HG01516.hp1
HG01934.hp2
others(10): Show 
HG00323.hp1
HG01516.hp1
HG01934.hp2
HG02015.hp1
HG02055.hp2
HG02071.hp2
HG02155.hp1
HG03098.hp2
HG03490.hp1
HG03831.hp1
HG06807.hp2
NA19060.hp1
NA19067.hp1
 3_prime_UTR_variant MODIFIER c.*2808_*2809delAA
c.*2808_*2809delAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2808 chr7 105605042
chr7:105605043 T
T
 TTTTTC
TTTTTC
 4 a0001c0001t0002
a0001c0001t0009
a0001c0001t0023
others(1): Show 
a0001c0001t0002
a0001c0001t0009
a0001c0001t0023
a0001c0001t0043
 34 HG01346.hp1
HG01433.hp1
HG01433.hp2
others(31): Show 
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01981.hp1
HG02027.hp1
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG03239.hp2
HG04199.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp2
NA18962.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA19005.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*2808_*2809insGAAA
others(1): Show 
c.*2808_*2809insGAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2808 chr7 105605043
chr7:105605051 T
T
 C
C
 1 a0001c0001t0043
a0001c0001t0043
 1 HG02083.hp2
HG02083.hp2
 3_prime_UTR_variant MODIFIER c.*2801A>G
c.*2801A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2801 chr7 105605051
chr7:105605091 G
G
 A
A
 7 a0001c0001t0022
a0001c0001t0033
a0002c0002t0022
others(4): Show 
a0001c0001t0022
a0001c0001t0033
a0002c0002t0022
a0002c0002t0030
a0002c0002t0032
a0002c0002t0033
a0002c0002t0059
 10 HG01074.hp2
HG01081.hp2
HG02055.hp1
others(7): Show 
HG01074.hp2
HG01081.hp2
HG02055.hp1
HG02723.hp2
HG02818.hp2
HG02896.hp2
HG03041.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp2
 3_prime_UTR_variant MODIFIER c.*2761C>T
c.*2761C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2761 chr7 105605091
chr7:105605130 G
G
 A
A
 1 a0001c0001t0049
a0001c0001t0049
 1 HG01099.hp1
HG01099.hp1
 3_prime_UTR_variant MODIFIER c.*2722C>T
c.*2722C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2722 chr7 105605130
chr7:105605307 A
A
 G
G
 8 a0001c0001t0002
a0001c0001t0009
a0001c0001t0023
others(5): Show 
a0001c0001t0002
a0001c0001t0009
a0001c0001t0023
a0001c0001t0039
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0007t0038
 38 HG01346.hp1
HG01433.hp1
HG01433.hp2
others(35): Show 
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01981.hp1
HG02027.hp1
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG03098.hp1
HG03239.hp2
HG04199.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp2
NA18962.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA19005.hp2
NA19010.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*2545T>C
c.*2545T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2545 chr7 105605307
chr7:105605340 T
T
 A
A
 1 a0001c0001t0040
a0001c0001t0040
 1 HG03098.hp2
HG03098.hp2
 3_prime_UTR_variant MODIFIER c.*2512A>T
c.*2512A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2512 chr7 105605340
chr7:105605343 T
T
 C
C
 1 a0001c0001t0045
a0001c0001t0045
 1 HG01891.hp2
HG01891.hp2
 3_prime_UTR_variant MODIFIER c.*2509A>G
c.*2509A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2509 chr7 105605343
chr7:105605361 G
G
 A
A
 4 a0001c0001t0017
a0001c0001t0034
a0001c0001t0052
others(1): Show 
a0001c0001t0017
a0001c0001t0034
a0001c0001t0052
a0001c0001t0053
 7 HG01074.hp1
HG01884.hp2
HG02572.hp1
others(4): Show 
HG01074.hp1
HG01884.hp2
HG02572.hp1
HG02630.hp1
HG03209.hp1
HG03209.hp2
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*2491C>T
c.*2491C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2491 chr7 105605361
chr7:105605430 G
G
 A
A
 8 a0001c0001t0002
a0001c0001t0009
a0001c0001t0023
others(5): Show 
a0001c0001t0002
a0001c0001t0009
a0001c0001t0023
a0001c0001t0039
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0007t0038
 38 HG01346.hp1
HG01433.hp1
HG01433.hp2
others(35): Show 
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01981.hp1
HG02027.hp1
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG03098.hp1
HG03239.hp2
HG04199.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp2
NA18962.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA19005.hp2
NA19010.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
 3_prime_UTR_variant MODIFIER c.*2422C>T
c.*2422C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2422 chr7 105605430
chr7:105605475 T
T
 TG
TG
 8 a0001c0001t0014
a0001c0001t0021
a0001c0001t0025
others(5): Show 
a0001c0001t0014
a0001c0001t0021
a0001c0001t0025
a0001c0001t0037
a0001c0001t0044
a0001c0001t0051
a0001c0001t0060
a0001c0008t0014
 16 HG00280.hp2
HG00323.hp2
HG01167.hp2
others(13): Show 
HG00280.hp2
HG00323.hp2
HG01167.hp2
HG01346.hp2
HG01516.hp1
HG01952.hp2
HG01981.hp2
HG02145.hp1
HG02280.hp1
HG02622.hp2
HG02965.hp1
HG03490.hp1
HG03831.hp2
NA18948.hp2
NA19240.hp1
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*2376dupC
c.*2376dupC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2376 chr7 105605475
chr7:105605475 TG
TG
 T
T
 16 a0001c0001t0002
a0001c0001t0004
a0001c0001t0006
others(13): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0006
a0001c0001t0011
a0001c0001t0017
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0031
a0001c0001t0039
a0001c0001t0052
a0001c0001t0053
a0001c0001t0055
a0001c0001t0056
a0001c0001t0064
a0006c0010t0031
 71 HG00558.hp2
HG00735.hp1
HG00741.hp1
others(68): Show 
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG01069.hp2
HG01074.hp1
HG01109.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02135.hp2
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp2
NA18994.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*2376delC
c.*2376delC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2376 chr7 105605475
chr7:105605475 TGG
TGG
 T
T
 9 a0001c0001t0001
a0001c0001t0010
a0001c0001t0023
others(6): Show 
a0001c0001t0001
a0001c0001t0010
a0001c0001t0023
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0004t0010
a0001c0006t0001
a0001c0007t0038
 44 HG00642.hp2
HG00673.hp2
HG00738.hp2
others(41): Show 
HG00642.hp2
HG00673.hp2
HG00738.hp2
HG01099.hp1
HG01168.hp1
HG01261.hp1
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01978.hp2
HG02027.hp1
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp2
HG02647.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG03490.hp2
HG03491.hp2
HG03540.hp1
HG03688.hp1
HG03688.hp2
HG03942.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp1
NA19000.hp1
NA19009.hp2
NA19056.hp2
NA19066.hp1
 3_prime_UTR_variant MODIFIER c.*2375_*2376delCC
c.*2375_*2376delCC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2375 chr7 105605475
chr7:105605480 G
G
 C
C
 2 a0001c0001t0011
a0001c0001t0064
a0001c0001t0011
a0001c0001t0064
 9 HG00558.hp2
HG02015.hp2
HG02135.hp2
others(6): Show 
HG00558.hp2
HG02015.hp2
HG02135.hp2
NA18945.hp2
NA18950.hp1
NA18970.hp1
NA19003.hp2
NA19085.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*2372C>G
c.*2372C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2372 chr7 105605480
chr7:105605481 G
G
 T
T
 1 a0002c0002t0030
a0002c0002t0030
 2 HG02896.hp2
HG03471.hp2
HG02896.hp2
HG03471.hp2
 3_prime_UTR_variant MODIFIER c.*2371C>A
c.*2371C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2371 chr7 105605481
chr7:105605485 GGT
GGT
 G
G
 8 a0001c0001t0008
a0001c0001t0022
a0001c0001t0033
others(5): Show 
a0001c0001t0008
a0001c0001t0022
a0001c0001t0033
a0001c0001t0046
a0001c0001t0061
a0002c0002t0022
a0002c0002t0033
a0005c0011t0008
 16 HG01081.hp2
HG01099.hp2
HG01168.hp2
others(13): Show 
HG01081.hp2
HG01099.hp2
HG01168.hp2
HG02055.hp1
HG02148.hp1
HG02523.hp1
HG02647.hp1
HG02723.hp2
HG03130.hp2
HG03225.hp1
HG03540.hp2
NA18962.hp2
NA19067.hp2
NA19074.hp2
NA19079.hp1
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*2365_*2366delAC
c.*2365_*2366delAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2365 chr7 105605485
chr7:105605486 GT
GT
 G
G
 4 a0001c0001t0003
a0001c0001t0018
a0001c0001t0062
others(1): Show 
a0001c0001t0003
a0001c0001t0018
a0001c0001t0062
a0001c0012t0003
 25 HG00558.hp1
HG00642.hp1
HG01069.hp1
others(22): Show 
HG00558.hp1
HG00642.hp1
HG01069.hp1
HG01081.hp1
HG01169.hp2
HG01256.hp2
HG01978.hp1
HG02027.hp2
HG02132.hp2
HG02155.hp2
HG02300.hp1
HG02559.hp1
HG02572.hp2
HG03471.hp1
HG03491.hp1
NA18747.hp1
NA18943.hp1
NA18957.hp1
NA18971.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19068.hp1
NA19068.hp2
 3_prime_UTR_variant MODIFIER c.*2365delA
c.*2365delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2365 chr7 105605486
chr7:105605487 T
T
 G
G
 6 a0001c0001t0013
a0001c0001t0014
a0001c0001t0019
others(3): Show 
a0001c0001t0013
a0001c0001t0014
a0001c0001t0019
a0001c0001t0045
a0001c0001t0063
a0001c0008t0014
 20 HG00280.hp2
HG00323.hp2
HG00738.hp1
others(17): Show 
HG00280.hp2
HG00323.hp2
HG00738.hp1
HG00741.hp2
HG01109.hp2
HG01167.hp2
HG01258.hp2
HG01261.hp2
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp2
HG01981.hp2
HG02145.hp2
HG02895.hp2
HG03669.hp2
HG03831.hp2
NA18948.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*2365A>C
c.*2365A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2365 chr7 105605487
chr7:105605532 C
C
 T
T
 4 a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
others(1): Show 
a0001c0001t0015
a0001c0001t0028
a0001c0001t0029
a0001c0001t0054
 11 HG01175.hp1
HG01243.hp1
HG01256.hp1
others(8): Show 
HG01175.hp1
HG01243.hp1
HG01256.hp1
HG01515.hp2
HG01517.hp2
HG02735.hp1
HG02738.hp2
HG03942.hp1
NA18995.hp2
NA19030.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*2320G>A
c.*2320G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2320 chr7 105605532
chr7:105605726 A
A
 T
T
 1 a0001c0001t0035
a0001c0001t0035
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2126T>A
c.*2126T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 2126 chr7 105605726
chr7:105606050 CT
CT
 C
C
 2 a0001c0001t0011
a0001c0001t0064
a0001c0001t0011
a0001c0001t0064
 9 HG00558.hp2
HG02015.hp2
HG02135.hp2
others(6): Show 
HG00558.hp2
HG02015.hp2
HG02135.hp2
NA18945.hp2
NA18950.hp1
NA18970.hp1
NA19003.hp2
NA19085.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*1801delA
c.*1801delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 1801 chr7 105606050
chr7:105606082 C
C
 T
T
 4 a0001c0001t0017
a0001c0001t0034
a0001c0001t0052
others(1): Show 
a0001c0001t0017
a0001c0001t0034
a0001c0001t0052
a0001c0001t0053
 7 HG01074.hp1
HG01884.hp2
HG02572.hp1
others(4): Show 
HG01074.hp1
HG01884.hp2
HG02572.hp1
HG02630.hp1
HG03209.hp1
HG03209.hp2
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*1770G>A
c.*1770G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 1770 chr7 105606082
chr7:105606374 C
C
 T
T
 20 a0001c0001t0001
a0001c0001t0004
a0001c0001t0006
others(17): Show 
a0001c0001t0001
a0001c0001t0004
a0001c0001t0006
a0001c0001t0010
a0001c0001t0012
a0001c0001t0016
a0001c0001t0020
a0001c0001t0026
a0001c0001t0027
a0001c0001t0035
a0001c0001t0037
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0051
a0001c0004t0010
a0001c0006t0001
a0003c0003t0020
a0004c0013t0036
 87 HG00280.hp1
HG00642.hp2
HG00673.hp2
others(84): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01099.hp1
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01952.hp1
HG01978.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02896.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03490.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03942.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp1
NA19000.hp1
NA19003.hp1
NA19009.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19086.hp1
NA19087.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1478G>A
c.*1478G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 1478 chr7 105606374
chr7:105606649 A
A
 C
C
 1 a0001c0001t0046
a0001c0001t0046
 1 NA20129.hp1
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*1203T>G
c.*1203T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 1203 chr7 105606649
chr7:105607023 A
A
 C
C
 22 a0001c0001t0002
a0001c0001t0005
a0001c0001t0009
others(19): Show 
a0001c0001t0002
a0001c0001t0005
a0001c0001t0009
a0001c0001t0012
a0001c0001t0020
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0034
a0001c0001t0035
a0001c0001t0037
a0001c0001t0039
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0007t0038
a0003c0003t0005
a0003c0003t0020
a0004c0013t0036
 68 HG00280.hp1
HG00323.hp1
HG00673.hp1
others(65): Show 
HG00280.hp1
HG00323.hp1
HG00673.hp1
HG00735.hp2
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02572.hp1
HG02602.hp1
HG02965.hp1
HG03098.hp1
HG03098.hp2
HG03239.hp2
HG03490.hp1
HG04199.hp1
HG06807.hp2
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp2
NA18962.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA19005.hp2
NA19010.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*829T>G
c.*829T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 829 chr7 105607023
chr7:105607623 C
C
 T
T
 1 a0001c0001t0034
a0001c0001t0034
 1 HG02572.hp1
HG02572.hp1
 3_prime_UTR_variant MODIFIER c.*229G>A
c.*229G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 12/12 229 chr7 105607623

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
chr7:105608081 C
C
 T
T
 4 a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0052g0133
others(1): Show 
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0052g0133
a0001c0001t0053g0031
 4 HG01074.hp1
HG01884.hp2
HG02630.hp1
others(1): Show 
HG01074.hp1
HG01884.hp2
HG02630.hp1
HG03516.hp2
 intron_variant MODIFIER c.2548-191G>A
c.2548-191G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105608081
chr7:105608082 G
G
 A
A
 1 a0001c0001t0005g0126
a0001c0001t0005g0126
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.2548-192C>T
c.2548-192C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105608082
chr7:105608179 T
T
 C
C
 2 a0001c0001t0012g0122
a0001c0001t0020g0169
a0001c0001t0012g0122
a0001c0001t0020g0169
 2 HG01257.hp1
HG01258.hp1
HG01257.hp1
HG01258.hp1
 intron_variant MODIFIER c.2548-289A>G
c.2548-289A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105608179
chr7:105608432 G
G
 A
A
 1 a0001c0001t0058g0018
a0001c0001t0058g0018
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.2548-542C>T
c.2548-542C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105608432
chr7:105608626 G
G
 A
A
 1 a0001c0001t0002g0056
a0001c0001t0002g0056
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.2548-736C>T
c.2548-736C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105608626
chr7:105608631 C
C
 T
T
 1 a0001c0001t0003g0238
a0001c0001t0003g0238
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.2548-741G>A
c.2548-741G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105608631
chr7:105608632 G
G
 A
A
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.2548-742C>T
c.2548-742C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105608632
chr7:105608655 C
C
 T
T
 15 a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
others(12): Show 
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0040g0207
a0001c0001t0044g0110
a0003c0003t0005g0079
 15 HG00323.hp1
HG00673.hp1
HG01516.hp1
others(12): Show 
HG00323.hp1
HG00673.hp1
HG01516.hp1
HG01934.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02155.hp1
HG02965.hp1
HG03098.hp2
HG03490.hp1
HG06807.hp2
NA19060.hp1
NA19067.hp1
 intron_variant MODIFIER c.2548-765G>A
c.2548-765G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105608655
chr7:105608673 A
A
 C
C
 165 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(162): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0061g0036
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0007t0038g0158
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 165 HG00280.hp1
HG00323.hp1
HG00642.hp2
others(162): Show 
HG00280.hp1
HG00323.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2548-783T>G
c.2548-783T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105608673
chr7:105608710 T
T
 C
C
 1 a0001c0001t0034g0068
a0001c0001t0034g0068
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.2548-820A>G
c.2548-820A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105608710
chr7:105608787 T
T
 C
C
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.2548-897A>G
c.2548-897A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105608787
chr7:105608948 C
C
 T
T
 3 a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0016g0069
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0016g0069
 3 HG02622.hp1
HG02723.hp1
HG03130.hp1
HG02622.hp1
HG02723.hp1
HG03130.hp1
 intron_variant MODIFIER c.2548-1058G>A
c.2548-1058G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105608948
chr7:105609019 A
A
 G
G
 13 a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
others(10): Show 
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0040g0207
a0003c0003t0005g0079
 13 HG00323.hp1
HG00673.hp1
HG01516.hp1
others(10): Show 
HG00323.hp1
HG00673.hp1
HG01516.hp1
HG01934.hp2
HG02015.hp1
HG02056.hp1
HG02071.hp2
HG02155.hp1
HG03098.hp2
HG03490.hp1
HG06807.hp2
NA19060.hp1
NA19067.hp1
 intron_variant MODIFIER c.2548-1129T>C
c.2548-1129T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105609019
chr7:105609107 C
C
 T
T
 15 a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
others(12): Show 
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0040g0207
a0001c0001t0044g0110
a0003c0003t0005g0079
 15 HG00323.hp1
HG00673.hp1
HG01516.hp1
others(12): Show 
HG00323.hp1
HG00673.hp1
HG01516.hp1
HG01934.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02155.hp1
HG02965.hp1
HG03098.hp2
HG03490.hp1
HG06807.hp2
NA19060.hp1
NA19067.hp1
 intron_variant MODIFIER c.2548-1217G>A
c.2548-1217G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105609107
chr7:105609320 C
C
 T
T
 2 a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0055g0252
a0001c0001t0056g0210
 2 HG01884.hp1
HG03225.hp2
HG01884.hp1
HG03225.hp2
 intron_variant MODIFIER c.2547+1209G>A
c.2547+1209G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105609320
chr7:105609329 C
C
 T
T
 3 a0001c0001t0002g0142
a0001c0001t0009g0013
a0001c0001t0009g0146
a0001c0001t0002g0142
a0001c0001t0009g0013
a0001c0001t0009g0146
 3 HG03239.hp2
NA19087.hp2
NA19088.hp2
HG03239.hp2
NA19087.hp2
NA19088.hp2
 intron_variant MODIFIER c.2547+1200G>A
c.2547+1200G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105609329
chr7:105609521 A
A
 G
G
 1 a0001c0001t0006g0001
a0001c0001t0006g0001
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.2547+1008T>C
c.2547+1008T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105609521
chr7:105609779 A
A
 G
G
 1 a0001c0001t0001g0106
a0001c0001t0001g0106
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.2547+750T>C
c.2547+750T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105609779
chr7:105609896 C
C
 CA
CA
 34 a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0076
others(31): Show 
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0007g0057
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0026g0189
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
a0001c0012t0003g0047
 34 HG00280.hp2
HG00323.hp2
HG00642.hp1
others(31): Show 
HG00280.hp2
HG00323.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01496.hp1
HG01934.hp1
HG01952.hp2
HG01981.hp2
HG02145.hp2
HG03491.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
NA18943.hp1
NA18948.hp2
NA18957.hp1
NA18962.hp2
NA19005.hp1
NA19054.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
 intron_variant MODIFIER c.2547+632_2547+633i
others(3): Show 
c.2547+632_2547+633insT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105609896
chr7:105609900 T
T
 C
C
 1 a0001c0001t0028g0037
a0001c0001t0028g0037
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.2547+629A>G
c.2547+629A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105609900
chr7:105609923 C
C
 A
A
 1 a0001c0001t0003g0006
a0001c0001t0003g0006
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.2547+606G>T
c.2547+606G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105609923
chr7:105610034 G
G
 T
T
 91 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(88): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0004g0039
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0044g0110
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0004t0010g0154
a0001c0006t0001g0112
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
 91 HG00280.hp1
HG00323.hp1
HG00642.hp2
others(88): Show 
HG00280.hp1
HG00323.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG01978.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp1
NA19000.hp1
NA19009.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19086.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2547+495C>A
c.2547+495C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105610034
chr7:105610132 T
T
 C
C
 251 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(248): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 251 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(248): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2547+397A>G
c.2547+397A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105610132
chr7:105610377 G
G
 C
C
 85 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(82): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0004g0039
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0044g0110
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0004t0010g0154
a0001c0006t0001g0112
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
 85 HG00280.hp1
HG00323.hp1
HG00642.hp2
others(82): Show 
HG00280.hp1
HG00323.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01934.hp2
HG01943.hp1
HG01978.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp1
NA19000.hp1
NA19009.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19086.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2547+152C>G
c.2547+152C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105610377
chr7:105610457 A
A
 G
G
 93 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(90): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0004g0039
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0044g0110
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0004t0010g0154
a0001c0006t0001g0112
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0006c0010t0031g0204
 93 HG00280.hp1
HG00323.hp1
HG00642.hp2
others(90): Show 
HG00280.hp1
HG00323.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01099.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG01978.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp1
NA19000.hp1
NA19009.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19086.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2547+72T>C
c.2547+72T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105610457
chr7:105610458 G
G
 A
A
 243 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(240): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 243 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(240): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2547+71C>T
c.2547+71C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 11/11 chr7 105610458
chr7:105610659 C
C
 T
T
 12 a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
others(9): Show 
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0054g0087
 12 HG01175.hp1
HG01243.hp1
HG01256.hp1
others(9): Show 
HG01175.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01515.hp2
HG01517.hp2
HG02735.hp1
HG02738.hp2
HG03942.hp1
NA18995.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.2473-56G>A
c.2473-56G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105610659
chr7:105611098 G
G
 A
A
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.2473-495C>T
c.2473-495C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105611098
chr7:105611434 C
C
 T
T
 1 a0001c0001t0006g0024
a0001c0001t0006g0024
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.2473-831G>A
c.2473-831G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105611434
chr7:105611693 T
T
 C
C
 1 a0001c0001t0034g0068
a0001c0001t0034g0068
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.2473-1090A>G
c.2473-1090A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105611693
chr7:105611730 A
A
 G
G
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.2473-1127T>C
c.2473-1127T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105611730
chr7:105611782 T
T
 C
C
 2 a0001c0001t0004g0211
a0001c0001t0016g0139
a0001c0001t0004g0211
a0001c0001t0016g0139
 2 NA18522.hp1
NA18906.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.2473-1179A>G
c.2473-1179A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105611782
chr7:105611916 G
G
 A
A
 1 a0001c0001t0012g0244
a0001c0001t0012g0244
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2473-1313C>T
c.2473-1313C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105611916
chr7:105612160 C
C
 T
T
 3 a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0021g0184
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0021g0184
 3 HG02965.hp2
HG03516.hp1
NA19240.hp1
HG02965.hp2
HG03516.hp1
NA19240.hp1
 intron_variant MODIFIER c.2473-1557G>A
c.2473-1557G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105612160
chr7:105612213 C
C
 T
T
 2 a0001c0001t0008g0015
a0001c0012t0003g0047
a0001c0001t0008g0015
a0001c0012t0003g0047
 2 NA18962.hp2
NA19054.hp2
NA18962.hp2
NA19054.hp2
 intron_variant MODIFIER c.2473-1610G>A
c.2473-1610G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105612213
chr7:105612271 A
A
 G
G
 90 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(87): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0004g0039
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0044g0110
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0061g0036
a0001c0004t0010g0154
a0001c0006t0001g0112
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
 90 HG00280.hp1
HG00323.hp1
HG00642.hp2
others(87): Show 
HG00280.hp1
HG00323.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01943.hp1
HG01978.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02647.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp1
NA19000.hp1
NA19009.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19086.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2472+1591T>C
c.2472+1591T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105612271
chr7:105612365 G
G
 A
A
 39 a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
others(36): Show 
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0039g0180
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0057g0229
a0001c0007t0038g0158
a0005c0011t0008g0092
 39 HG01255.hp2
HG01346.hp1
HG01433.hp1
others(36): Show 
HG01255.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01981.hp1
HG02027.hp1
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02135.hp1
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG03098.hp1
HG03239.hp2
HG04199.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp2
NA18962.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA19005.hp2
NA19010.hp1
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
 intron_variant MODIFIER c.2472+1497C>T
c.2472+1497C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105612365
chr7:105612487 GC
GC
 G
G
 12 a0001c0001t0001g0201
a0001c0001t0004g0135
a0001c0001t0004g0137
others(9): Show 
a0001c0001t0001g0201
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0027g0008
a0001c0001t0027g0134
 12 HG02451.hp1
HG02559.hp2
HG02647.hp2
others(9): Show 
HG02451.hp1
HG02559.hp2
HG02647.hp2
HG03139.hp1
HG03139.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.2472+1374delG
c.2472+1374delG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105612487
chr7:105612494 G
G
 A
A
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.2472+1368C>T
c.2472+1368C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105612494
chr7:105612502 C
C
 T
T
 6 a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
others(3): Show 
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0052g0133
a0001c0001t0053g0031
 6 HG01074.hp1
HG01884.hp2
HG02630.hp1
others(3): Show 
HG01074.hp1
HG01884.hp2
HG02630.hp1
HG03209.hp1
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.2472+1360G>A
c.2472+1360G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105612502
chr7:105612634 A
A
 G
G
 159 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(156): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0004g0039
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0131
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0061g0036
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0007t0038g0158
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 159 HG00280.hp1
HG00323.hp1
HG00558.hp2
others(156): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2472+1228T>C
c.2472+1228T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105612634
chr7:105612969 C
C
 T
T
 1 a0001c0001t0043g0105
a0001c0001t0043g0105
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.2472+893G>A
c.2472+893G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105612969
chr7:105613038 G
G
 A
A
 9 a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
others(6): Show 
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0064g0098
 9 HG00558.hp2
HG02015.hp2
HG02135.hp2
others(6): Show 
HG00558.hp2
HG02015.hp2
HG02135.hp2
NA18945.hp2
NA18950.hp1
NA18970.hp1
NA19003.hp2
NA19085.hp2
NA19091.hp2
 intron_variant MODIFIER c.2472+824C>T
c.2472+824C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105613038
chr7:105613084 C
C
 T
T
 6 a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
others(3): Show 
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0052g0133
a0001c0001t0053g0031
 6 HG01074.hp1
HG01884.hp2
HG02630.hp1
others(3): Show 
HG01074.hp1
HG01884.hp2
HG02630.hp1
HG03209.hp1
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.2472+778G>A
c.2472+778G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105613084
chr7:105613085 G
G
 A
A
 2 a0001c0001t0015g0193
a0001c0001t0029g0215
a0001c0001t0015g0193
a0001c0001t0029g0215
 2 HG01243.hp1
NA19030.hp1
HG01243.hp1
NA19030.hp1
 intron_variant MODIFIER c.2472+777C>T
c.2472+777C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105613085
chr7:105613247 T
T
 C
C
 2 a0001c0001t0001g0214
a0002c0002t0032g0226
a0001c0001t0001g0214
a0002c0002t0032g0226
 2 HG01074.hp2
HG06807.hp1
HG01074.hp2
HG06807.hp1
 intron_variant MODIFIER c.2472+615A>G
c.2472+615A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105613247
chr7:105613252 C
C
 T
T
 1 a0001c0001t0010g0051
a0001c0001t0010g0051
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.2472+610G>A
c.2472+610G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105613252
chr7:105613486 C
C
 T
T
 1 a0001c0001t0035g0151
a0001c0001t0035g0151
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2472+376G>A
c.2472+376G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105613486
chr7:105613638 T
T
 C
C
 65 a0001c0001t0001g0009
a0001c0001t0001g0059
a0001c0001t0001g0080
others(62): Show 
a0001c0001t0001g0009
a0001c0001t0001g0059
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0201
a0001c0001t0002g0010
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0024
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0012g0052
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0061g0036
a0001c0008t0014g0165
a0005c0011t0008g0092
 65 HG00280.hp2
HG00642.hp1
HG00642.hp2
others(62): Show 
HG00280.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01934.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG03130.hp1
HG03139.hp2
HG03540.hp1
HG03579.hp1
HG03942.hp1
HG04199.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18954.hp1
NA18957.hp1
NA18995.hp2
NA19005.hp1
NA19010.hp1
NA19030.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.2472+224A>G
c.2472+224A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105613638
chr7:105613722 G
G
 A
A
 7 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0006g0117
others(4): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0027g0008
 7 HG02451.hp1
HG02559.hp2
HG03139.hp2
others(4): Show 
HG02451.hp1
HG02559.hp2
HG03139.hp2
HG03579.hp1
NA18906.hp1
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.2472+140C>T
c.2472+140C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105613722
chr7:105613778 C
C
 G
G
 3 a0001c0001t0007g0217
a0001c0001t0021g0184
a0002c0002t0032g0226
a0001c0001t0007g0217
a0001c0001t0021g0184
a0002c0002t0032g0226
 3 HG01074.hp2
HG02965.hp2
NA19240.hp1
HG01074.hp2
HG02965.hp2
NA19240.hp1
 intron_variant MODIFIER c.2472+84G>C
c.2472+84G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105613778
chr7:105613788 C
C
 T
T
 1 a0001c0001t0020g0120
a0001c0001t0020g0120
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.2472+74G>A
c.2472+74G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105613788
chr7:105613832 C
C
 T
T
 1 a0001c0001t0052g0133
a0001c0001t0052g0133
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.2472+30G>A
c.2472+30G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 10/11 chr7 105613832
chr7:105614857 C
C
 T
T
 2 a0001c0001t0001g0082
a0001c0001t0006g0067
a0001c0001t0001g0082
a0001c0001t0006g0067
 2 HG01175.hp2
HG02300.hp2
HG01175.hp2
HG02300.hp2
 intron_variant MODIFIER c.1518-41G>A
c.1518-41G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105614857
chr7:105615333 C
C
 A
A
 11 a0001c0001t0001g0201
a0001c0001t0004g0135
a0001c0001t0004g0137
others(8): Show 
a0001c0001t0001g0201
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0016g0139
a0001c0001t0027g0008
a0001c0001t0029g0215
 11 HG02451.hp1
HG02559.hp2
HG02647.hp2
others(8): Show 
HG02451.hp1
HG02559.hp2
HG02647.hp2
HG03139.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.1518-517G>T
c.1518-517G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105615333
chr7:105615333 C
C
 T
T
 12 a0001c0001t0004g0219
a0001c0001t0013g0156
a0001c0001t0016g0069
others(9): Show 
a0001c0001t0004g0219
a0001c0001t0013g0156
a0001c0001t0016g0069
a0001c0001t0022g0224
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 12 HG01074.hp2
HG02055.hp1
HG02723.hp1
others(9): Show 
HG01074.hp2
HG02055.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.1518-517G>A
c.1518-517G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105615333
chr7:105615386 C
C
 T
T
 1 a0001c0001t0044g0110
a0001c0001t0044g0110
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.1518-570G>A
c.1518-570G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105615386
chr7:105615464 C
C
 T
T
 1 a0001c0001t0005g0014
a0001c0001t0005g0014
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.1518-648G>A
c.1518-648G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105615464
chr7:105615662 G
G
 A
A
 1 a0001c0001t0005g0025
a0001c0001t0005g0025
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.1518-846C>T
c.1518-846C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105615662
chr7:105615844 A
A
 G
G
 240 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(237): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 240 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(237): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-1028T>C
c.1518-1028T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105615844
chr7:105615927 A
A
 G
G
 99 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0059
others(96): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0198
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0234
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
 99 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(96): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp2
HG02602.hp1
HG02738.hp1
HG03098.hp2
HG03239.hp1
HG03491.hp1
HG03491.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19005.hp2
NA19010.hp1
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-1111T>C
c.1518-1111T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105615927
chr7:105616081 C
C
 T
T
 1 a0001c0001t0039g0180
a0001c0001t0039g0180
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1518-1265G>A
c.1518-1265G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105616081
chr7:105616110 T
T
 C
C
 2 a0001c0001t0057g0229
a0005c0011t0008g0092
a0001c0001t0057g0229
a0005c0011t0008g0092
 2 HG01255.hp2
HG02148.hp1
HG01255.hp2
HG02148.hp1
 intron_variant MODIFIER c.1518-1294A>G
c.1518-1294A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105616110
chr7:105616522 T
T
 C
C
 37 a0001c0001t0001g0026
a0001c0001t0001g0108
a0001c0001t0001g0119
others(34): Show 
a0001c0001t0001g0026
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0003g0235
a0001c0001t0004g0127
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0168
a0001c0001t0010g0091
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0136
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0057g0229
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
 37 HG00280.hp1
HG00673.hp2
HG00741.hp1
others(34): Show 
HG00280.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG02015.hp1
HG02056.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02280.hp1
HG02602.hp1
HG02738.hp1
HG03098.hp2
HG03669.hp1
HG03688.hp1
HG04199.hp2
HG06807.hp2
NA18906.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-1706A>G
c.1518-1706A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105616522
chr7:105616563 C
C
 T
T
 17 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
others(14): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0198
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0031g0172
a0001c0001t0048g0132
a0001c0006t0001g0112
 17 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(14): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp2
HG01175.hp1
HG01257.hp2
HG01433.hp1
HG02165.hp1
HG02523.hp2
HG03239.hp1
HG03491.hp2
HG04199.hp1
NA18994.hp1
NA19000.hp1
NA19060.hp2
NA19086.hp1
 intron_variant MODIFIER c.1518-1747G>A
c.1518-1747G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105616563
chr7:105616585 T
T
 C
C
 11 a0001c0001t0001g0201
a0001c0001t0004g0135
a0001c0001t0004g0137
others(8): Show 
a0001c0001t0001g0201
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0016g0139
a0001c0001t0027g0008
a0001c0001t0029g0215
 11 HG02451.hp1
HG02559.hp2
HG02647.hp2
others(8): Show 
HG02451.hp1
HG02559.hp2
HG02647.hp2
HG03139.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.1518-1769A>G
c.1518-1769A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105616585
chr7:105616835 T
T
 C
C
 1 a0001c0001t0055g0252
a0001c0001t0055g0252
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1518-2019A>G
c.1518-2019A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105616835
chr7:105617113 G
G
 A
A
 43 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(40): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0002g0021
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0067
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0015g0109
a0001c0001t0018g0046
a0001c0001t0019g0230
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0012t0003g0047
 43 HG00673.hp1
HG00735.hp2
HG01099.hp1
others(40): Show 
HG00673.hp1
HG00735.hp2
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01256.hp1
HG01516.hp2
HG01517.hp1
HG01978.hp2
HG02027.hp2
HG02056.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02300.hp2
HG02602.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02896.hp1
HG03239.hp2
HG03490.hp2
HG03688.hp2
NA18747.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18995.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19085.hp1
NA19087.hp2
 intron_variant MODIFIER c.1518-2297C>T
c.1518-2297C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105617113
chr7:105617182 A
A
 G
G
 1 a0001c0001t0039g0180
a0001c0001t0039g0180
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1518-2366T>C
c.1518-2366T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105617182
chr7:105617313 T
T
 C
C
 240 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(237): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 240 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(237): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1518-2497A>G
c.1518-2497A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105617313
chr7:105617545 G
G
 C
C
 1 a0001c0001t0017g0113
a0001c0001t0017g0113
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1517+2655C>G
c.1517+2655C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105617545
chr7:105617600 G
G
 A
A
 1 a0001c0001t0004g0039
a0001c0001t0004g0039
 1 NA19086.hp1
NA19086.hp1
 intron_variant MODIFIER c.1517+2600C>T
c.1517+2600C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105617600
chr7:105617702 G
G
 A
A
 11 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0008g0015
others(8): Show 
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0008g0015
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 11 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(8): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp2
NA18962.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
NA19091.hp2
 intron_variant MODIFIER c.1517+2498C>T
c.1517+2498C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105617702
chr7:105618622 G
G
 A
A
 243 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(240): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 243 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(240): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+1578C>T
c.1517+1578C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105618622
chr7:105618626 C
C
 T
T
 29 a0001c0001t0001g0026
a0001c0001t0001g0119
a0001c0001t0003g0050
others(26): Show 
a0001c0001t0001g0026
a0001c0001t0001g0119
a0001c0001t0003g0050
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0006g0022
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0035g0151
a0001c0001t0037g0065
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
 29 HG00280.hp1
HG00741.hp2
HG01168.hp1
others(26): Show 
HG00280.hp1
HG00741.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01943.hp1
HG01952.hp1
HG02148.hp2
HG02280.hp1
HG02602.hp1
HG02738.hp1
HG03490.hp1
HG03688.hp1
HG06807.hp2
NA19003.hp1
NA19068.hp1
NA19087.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+1574G>A
c.1517+1574G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105618626
chr7:105618864 T
T
 A
A
 2 a0001c0001t0016g0136
a0001c0001t0040g0207
a0001c0001t0016g0136
a0001c0001t0040g0207
 2 HG03098.hp2
NA18906.hp2
HG03098.hp2
NA18906.hp2
 intron_variant MODIFIER c.1517+1336A>T
c.1517+1336A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105618864
chr7:105618937 G
G
 A
A
 1 a0001c0001t0017g0195
a0001c0001t0017g0195
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1517+1263C>T
c.1517+1263C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105618937
chr7:105619140 G
G
 GTTTTT
GTTTTT
 16 a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0004g0127
others(13): Show 
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0004g0127
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0010g0228
a0001c0001t0011g0157
a0001c0001t0015g0140
a0001c0001t0016g0139
a0001c0001t0027g0008
a0001c0001t0029g0215
a0007c0009t0007g0096
 16 HG01515.hp2
HG02015.hp1
HG02155.hp1
others(13): Show 
HG01515.hp2
HG02015.hp1
HG02155.hp1
HG02451.hp1
HG02630.hp2
HG02647.hp2
HG02818.hp1
HG03139.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp1
NA18522.hp1
NA18906.hp1
NA19003.hp2
NA19030.hp1
NA19043.hp2
 intron_variant MODIFIER c.1517+1055_1517+105
others(9): Show 
c.1517+1055_1517+1059dupAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTT
GTTTTTT
 47 a0001c0001t0001g0026
a0001c0001t0001g0082
a0001c0001t0001g0108
others(44): Show 
a0001c0001t0001g0026
a0001c0001t0001g0082
a0001c0001t0001g0108
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0235
a0001c0001t0004g0128
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0008g0015
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0164
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0083
a0001c0001t0015g0125
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0047g0121
a0001c0001t0055g0252
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
 47 HG00280.hp1
HG00280.hp2
HG00558.hp2
others(44): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp2
HG01496.hp1
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02056.hp1
HG02148.hp1
HG02300.hp2
HG02602.hp1
HG02723.hp1
HG02738.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03490.hp1
HG03688.hp1
HG04199.hp2
HG06807.hp2
NA18906.hp2
NA18962.hp2
NA19003.hp1
NA19068.hp1
NA19085.hp2
NA19091.hp2
 intron_variant MODIFIER c.1517+1054_1517+105
others(10): Show 
c.1517+1054_1517+1059dupAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTTT
GTTTTTTT
 16 a0001c0001t0001g0119
a0001c0001t0004g0023
a0001c0001t0006g0067
others(13): Show 
a0001c0001t0001g0119
a0001c0001t0004g0023
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0011g0012
a0001c0001t0014g0166
a0001c0001t0022g0224
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0057g0229
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0033g0221
a0003c0003t0020g0199
 16 HG00741.hp1
HG01168.hp1
HG01175.hp2
others(13): Show 
HG00741.hp1
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01358.hp1
HG01981.hp2
HG02055.hp1
HG02280.hp1
HG02559.hp2
HG02723.hp2
HG03098.hp2
HG03471.hp2
HG03540.hp2
NA18970.hp1
NA19087.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+1053_1517+105
others(11): Show 
c.1517+1053_1517+1059dupAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTTT
others(1): Show 
GTTTTTTTT
 17 a0001c0001t0002g0010
a0001c0001t0003g0090
a0001c0001t0003g0147
others(14): Show 
a0001c0001t0002g0010
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0089
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0017g0113
a0001c0001t0026g0234
a0001c0001t0046g0138
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0007t0038g0158
 17 HG00558.hp1
HG01167.hp1
HG01167.hp2
others(14): Show 
HG00558.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01346.hp2
HG01496.hp2
HG01884.hp2
HG01943.hp2
HG02148.hp2
HG02523.hp1
HG03209.hp2
HG03669.hp2
NA18995.hp2
NA19005.hp1
NA19068.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.1517+1052_1517+105
others(12): Show 
c.1517+1052_1517+1059dupAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTTT
others(2): Show 
GTTTTTTTTT
 48 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0001g0185
others(45): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0231
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0203
a0001c0001t0005g0027
a0001c0001t0006g0034
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0111
a0001c0001t0014g0038
a0001c0001t0014g0237
a0001c0001t0018g0058
a0001c0001t0019g0063
a0001c0001t0021g0130
a0001c0001t0026g0189
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0058g0018
a0001c0006t0001g0112
a0001c0008t0014g0165
 48 HG00323.hp2
HG00642.hp2
HG00738.hp2
others(45): Show 
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp2
HG01257.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01891.hp2
HG01934.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02523.hp2
HG02572.hp2
HG02622.hp1
HG02647.hp1
HG03130.hp2
HG03239.hp1
HG03491.hp1
HG03491.hp2
HG03831.hp1
HG03831.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18957.hp1
NA18994.hp1
NA19005.hp2
NA19009.hp2
NA19043.hp1
NA19054.hp1
NA19060.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19240.hp2
 intron_variant MODIFIER c.1517+1051_1517+105
others(13): Show 
c.1517+1051_1517+1059dupAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTTT
others(3): Show 
GTTTTTTTTTT
 30 a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0142
others(27): Show 
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0245
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0004g0039
a0001c0001t0005g0025
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0011g0170
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0023g0183
a0001c0001t0027g0134
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
 30 HG00323.hp1
HG00673.hp2
HG01515.hp1
others(27): Show 
HG00323.hp1
HG00673.hp2
HG01515.hp1
HG01934.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02071.hp2
HG02559.hp1
HG03098.hp1
HG03139.hp1
HG03471.hp1
HG03942.hp1
HG04199.hp1
NA18950.hp1
NA18954.hp2
NA18962.hp1
NA18989.hp2
NA19000.hp1
NA19010.hp1
NA19030.hp2
NA19056.hp1
NA19067.hp1
NA19067.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
 intron_variant MODIFIER c.1517+1050_1517+105
others(14): Show 
c.1517+1050_1517+1059dupAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTTT
others(4): Show 
GTTTTTTTTTTT
 10 a0001c0001t0001g0214
a0001c0001t0002g0016
a0001c0001t0002g0049
others(7): Show 
a0001c0001t0001g0214
a0001c0001t0002g0016
a0001c0001t0002g0049
a0001c0001t0002g0239
a0001c0001t0004g0198
a0001c0001t0009g0055
a0001c0001t0013g0251
a0001c0001t0015g0060
a0001c0001t0015g0193
a0001c0001t0023g0247
 10 HG00735.hp1
HG01175.hp1
HG01243.hp1
others(7): Show 
HG00735.hp1
HG01175.hp1
HG01243.hp1
HG01433.hp1
HG02135.hp1
HG02165.hp1
HG06807.hp1
NA19079.hp2
NA19086.hp2
NA20300.hp1
 intron_variant MODIFIER c.1517+1049_1517+105
others(15): Show 
c.1517+1049_1517+1059dupAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTTT
others(5): Show 
GTTTTTTTTTTTT
 8 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0056
others(5): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0056
a0001c0001t0002g0187
a0001c0001t0010g0051
a0001c0001t0017g0195
a0001c0001t0018g0131
a0001c0005t0007g0209
 8 HG01891.hp1
HG02280.hp2
HG02451.hp2
others(5): Show 
HG01891.hp1
HG02280.hp2
HG02451.hp2
HG03209.hp1
HG03942.hp2
NA18747.hp1
NA18994.hp2
NA19066.hp2
 intron_variant MODIFIER c.1517+1048_1517+105
others(16): Show 
c.1517+1048_1517+1059dupAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTTT
others(6): Show 
GTTTTTTTTTTTTT
 4 a0001c0001t0001g0003
a0001c0001t0015g0109
a0001c0001t0028g0037
others(1): Show 
a0001c0001t0001g0003
a0001c0001t0015g0109
a0001c0001t0028g0037
a0001c0001t0034g0068
 4 HG01256.hp1
HG02572.hp1
HG02735.hp1
others(1): Show 
HG01256.hp1
HG02572.hp1
HG02735.hp1
HG02735.hp2
 intron_variant MODIFIER c.1517+1047_1517+105
others(17): Show 
c.1517+1047_1517+1059dupAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTTT
others(7): Show 
GTTTTTTTTTTTTTT
 13 a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
others(10): Show 
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0003g0006
a0001c0001t0005g0248
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0049g0148
a0001c0001t0052g0133
 13 HG01074.hp1
HG01099.hp1
HG01516.hp2
others(10): Show 
HG01074.hp1
HG01099.hp1
HG01516.hp2
HG01517.hp1
HG02132.hp1
HG02630.hp1
HG02896.hp1
HG03516.hp2
NA18747.hp2
NA18970.hp2
NA19010.hp2
NA19056.hp2
NA19060.hp1
 intron_variant MODIFIER c.1517+1046_1517+105
others(18): Show 
c.1517+1046_1517+1059dupAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTTT
others(8): Show 
GTTTTTTTTTTTTTTT
 10 a0001c0001t0001g0017
a0001c0001t0001g0163
a0001c0001t0003g0004
others(7): Show 
a0001c0001t0001g0017
a0001c0001t0001g0163
a0001c0001t0003g0004
a0001c0001t0003g0030
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0019g0230
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0004t0010g0154
 10 HG00735.hp2
HG01109.hp2
HG01978.hp2
others(7): Show 
HG00735.hp2
HG01109.hp2
HG01978.hp2
HG02129.hp2
HG02145.hp2
HG03490.hp2
HG03688.hp2
NA18971.hp2
NA19000.hp2
NA19009.hp1
 intron_variant MODIFIER c.1517+1045_1517+105
others(19): Show 
c.1517+1045_1517+1059dupAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTTT
others(9): Show 
GTTTTTTTTTTTTTTTT
 7 a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0085
others(4): Show 
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0085
a0001c0001t0006g0001
a0001c0001t0011g0101
a0001c0001t0061g0036
a0001c0012t0003g0047
 7 HG01099.hp2
HG02056.hp2
NA18945.hp2
others(4): Show 
HG01099.hp2
HG02056.hp2
NA18945.hp2
NA18950.hp2
NA18957.hp2
NA18971.hp1
NA19054.hp2
 intron_variant MODIFIER c.1517+1044_1517+105
others(20): Show 
c.1517+1044_1517+1059dupAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTTT
others(10): Show 
GTTTTTTTTTTTTTTTTT
 3 a0001c0001t0005g0206
a0001c0001t0010g0032
a0001c0001t0056g0210
a0001c0001t0005g0206
a0001c0001t0010g0032
a0001c0001t0056g0210
 3 HG02055.hp2
HG03225.hp2
NA19066.hp1
HG02055.hp2
HG03225.hp2
NA19066.hp1
 intron_variant MODIFIER c.1517+1043_1517+105
others(21): Show 
c.1517+1043_1517+1059dupAAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTTT
others(13): Show 
GTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0064g0098
a0001c0001t0064g0098
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1517+1040_1517+105
others(24): Show 
c.1517+1040_1517+1059dupAAAAAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTTT
others(14): Show 
GTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0001g0102
a0001c0001t0001g0102
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.1517+1039_1517+105
others(25): Show 
c.1517+1039_1517+1059dupAAAAAAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 G
G
 GTTTTTTT
others(20): Show 
GTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0001t0018g0046
a0001c0001t0018g0046
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.1517+1059_1517+106
others(31): Show 
c.1517+1059_1517+1060insAAAAAAAAAAAAAAAAAAAAAAAAAA
A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 GTTTTTTT
others(3): Show 
GTTTTTTTTTT
 G
G
 1 a0001c0001t0050g0155
a0001c0001t0050g0155
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1517+1050_1517+105
others(14): Show 
c.1517+1050_1517+1059delAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619140 GTTTTTTT
others(4): Show 
GTTTTTTTTTTT
 G
G
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1517+1049_1517+105
others(15): Show 
c.1517+1049_1517+1059delAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619140
chr7:105619221 C
C
 T
T
 1 a0001c0001t0017g0195
a0001c0001t0017g0195
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1517+979G>A
c.1517+979G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619221
chr7:105619251 G
G
 A
A
 1 a0001c0001t0039g0180
a0001c0001t0039g0180
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1517+949C>T
c.1517+949C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619251
chr7:105619407 A
A
 C
C
 244 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(241): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 244 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(241): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+793T>G
c.1517+793T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619407
chr7:105619438 C
C
 T
T
 11 a0001c0001t0001g0201
a0001c0001t0004g0135
a0001c0001t0004g0137
others(8): Show 
a0001c0001t0001g0201
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0016g0139
a0001c0001t0027g0008
a0001c0001t0029g0215
 11 HG02451.hp1
HG02559.hp2
HG02647.hp2
others(8): Show 
HG02451.hp1
HG02559.hp2
HG02647.hp2
HG03139.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.1517+762G>A
c.1517+762G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619438
chr7:105619495 C
C
 CAT
CAT
 6 a0001c0001t0001g0003
a0001c0001t0001g0205
a0001c0001t0003g0030
others(3): Show 
a0001c0001t0001g0003
a0001c0001t0001g0205
a0001c0001t0003g0030
a0001c0001t0005g0248
a0001c0001t0015g0109
a0001c0001t0017g0194
 6 HG01074.hp1
HG01256.hp1
HG02451.hp2
others(3): Show 
HG01074.hp1
HG01256.hp1
HG02451.hp2
HG02735.hp2
NA18971.hp2
NA19060.hp1
 intron_variant MODIFIER c.1517+703_1517+704d
others(4): Show 
c.1517+703_1517+704dupAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619495
chr7:105619495 C
C
 CATATAT
CATATAT
 3 a0001c0001t0001g0078
a0001c0001t0007g0218
a0001c0001t0009g0146
a0001c0001t0001g0078
a0001c0001t0007g0218
a0001c0001t0009g0146
 3 HG03041.hp2
NA18747.hp2
NA19087.hp2
HG03041.hp2
NA18747.hp2
NA19087.hp2
 intron_variant MODIFIER c.1517+699_1517+704d
others(8): Show 
c.1517+699_1517+704dupATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619495
chr7:105619498 A
A
 G
G
 1 a0001c0001t0010g0111
a0001c0001t0010g0111
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.1517+702T>C
c.1517+702T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619498
chr7:105619499 T
T
 C
C
 1 a0001c0001t0010g0111
a0001c0001t0010g0111
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.1517+701A>G
c.1517+701A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619499
chr7:105619510 ATATATAT
others(19): Show 
ATATATATATATATATATATATTTTTT
 A
A
 2 a0001c0001t0001g0102
a0001c0001t0018g0046
a0001c0001t0001g0102
a0001c0001t0018g0046
 2 HG02027.hp2
NA18989.hp1
HG02027.hp2
NA18989.hp1
 intron_variant MODIFIER c.1517+664_1517+689d
others(28): Show 
c.1517+664_1517+689delAAAAAATATATATATATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619510
chr7:105619512 ATATATAT
others(19): Show 
ATATATATATATATATATATTTTTTTT
 A
A
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.1517+662_1517+687d
others(28): Show 
c.1517+662_1517+687delAAAAAAAATATATATATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619512
chr7:105619512 ATATATAT
others(27): Show 
ATATATATATATATATATATTTTTTTTTTTTTTTT
 A
A
 1 a0001c0001t0001g0201
a0001c0001t0001g0201
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1517+654_1517+687d
others(36): Show 
c.1517+654_1517+687delAAAAAAAAAAAAAAAATATATATATATA
TATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619512
chr7:105619514 ATATATAT
others(27): Show 
ATATATATATATATATATTTTTTTTTTTTTTTTTT
 A
A
 1 a0001c0001t0004g0211
a0001c0001t0004g0211
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1517+652_1517+685d
others(36): Show 
c.1517+652_1517+685delAAAAAAAAAAAAAAAAAATATATATATA
TATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619514
chr7:105619516 ATATATAT
others(16): Show 
ATATATATATATATATTTTTTTTT
 A
A
 8 a0001c0001t0001g0009
a0001c0001t0003g0076
a0001c0001t0003g0086
others(5): Show 
a0001c0001t0001g0009
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0008g0015
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0013g0236
 8 HG00642.hp1
HG00738.hp1
HG01081.hp1
others(5): Show 
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp2
NA18954.hp1
NA18962.hp2
NA18970.hp1
NA19091.hp2
 intron_variant MODIFIER c.1517+661_1517+683d
others(25): Show 
c.1517+661_1517+683delAAAAAAAAATATATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619516
chr7:105619516 ATATATAT
others(17): Show 
ATATATATATATATATTTTTTTTTT
 A
A
 2 a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0152
a0001c0001t0011g0157
 2 HG00558.hp2
NA19003.hp2
HG00558.hp2
NA19003.hp2
 intron_variant MODIFIER c.1517+660_1517+683d
others(26): Show 
c.1517+660_1517+683delAAAAAAAAAATATATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619516
chr7:105619516 ATATATAT
others(26): Show 
ATATATATATATATATTTTTTTTTTTTTTTTTTT
 A
A
 16 a0001c0001t0001g0108
a0001c0001t0004g0135
a0001c0001t0006g0024
others(13): Show 
a0001c0001t0001g0108
a0001c0001t0004g0135
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0018g0058
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0057g0229
 16 HG00741.hp1
HG01255.hp2
HG01261.hp1
others(13): Show 
HG00741.hp1
HG01255.hp2
HG01261.hp1
HG01358.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG03098.hp2
HG03139.hp2
HG03540.hp1
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.1517+651_1517+683d
others(35): Show 
c.1517+651_1517+683delAAAAAAAAAAAAAAAAAAATATATATAT
ATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619516
chr7:105619516 ATATATAT
others(27): Show 
ATATATATATATATATTTTTTTTTTTTTTTTTTTT
 A
A
 1 a0001c0001t0004g0137
a0001c0001t0004g0137
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1517+650_1517+683d
others(36): Show 
c.1517+650_1517+683delAAAAAAAAAAAAAAAAAAAATATATATA
TATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619516
chr7:105619518 ATATATAT
others(14): Show 
ATATATATATATATTTTTTTTT
 A
A
 1 a0001c0001t0011g0164
a0001c0001t0011g0164
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.1517+661_1517+681d
others(23): Show 
c.1517+661_1517+681delAAAAAAAAATATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619518
chr7:105619518 ATATATAT
others(16): Show 
ATATATATATATATTTTTTTTTTT
 A
A
 1 a0001c0001t0014g0083
a0001c0001t0014g0083
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1517+659_1517+681d
others(25): Show 
c.1517+659_1517+681delAAAAAAAAAAATATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619518
chr7:105619518 ATATATAT
others(19): Show 
ATATATATATATATTTTTTTTTTTTTT
 A
A
 1 a0001c0001t0014g0123
a0001c0001t0014g0123
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.1517+656_1517+681d
others(28): Show 
c.1517+656_1517+681delAAAAAAAAAAAAAATATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619518
chr7:105619518 ATATATAT
others(26): Show 
ATATATATATATATTTTTTTTTTTTTTTTTTTTT
 A
A
 8 a0001c0001t0001g0082
a0001c0001t0004g0127
a0001c0001t0005g0014
others(5): Show 
a0001c0001t0001g0082
a0001c0001t0004g0127
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0006g0067
a0001c0001t0010g0091
a0001c0001t0024g0250
a0005c0011t0008g0092
 8 HG00673.hp2
HG01175.hp2
HG02015.hp1
others(5): Show 
HG00673.hp2
HG01175.hp2
HG02015.hp1
HG02056.hp1
HG02148.hp1
HG02155.hp1
HG02300.hp2
HG03669.hp1
 intron_variant MODIFIER c.1517+649_1517+681d
others(35): Show 
c.1517+649_1517+681delAAAAAAAAAAAAAAAAAAAAATATATAT
ATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619518
chr7:105619518 ATATATAT
others(28): Show 
ATATATATATATATTTTTTTTTTTTTTTTTTTTTTT
 A
A
 1 a0001c0001t0017g0195
a0001c0001t0017g0195
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1517+647_1517+681d
others(37): Show 
c.1517+647_1517+681delAAAAAAAAAAAAAAAAAAAAAAATATAT
ATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619518
chr7:105619520 ATATATAT
others(24): Show 
ATATATATATATTTTTTTTTTTTTTTTTTTTT
 A
A
 1 a0001c0001t0002g0245
a0001c0001t0002g0245
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1517+649_1517+679d
others(33): Show 
c.1517+649_1517+679delAAAAAAAAAAAAAAAAAAAAATATATAT
ATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619520
chr7:105619522 ATATATAT
others(6): Show 
ATATATATATTTTT
 A
A
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1517+665_1517+677d
others(15): Show 
c.1517+665_1517+677delAAAAATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619522
chr7:105619522 ATATATAT
others(8): Show 
ATATATATATTTTTTT
 A
A
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1517+663_1517+677d
others(17): Show 
c.1517+663_1517+677delAAAAAAATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619522
chr7:105619522 ATATATAT
others(13): Show 
ATATATATATTTTTTTTTTTT
 A
A
 2 a0001c0001t0005g0159
a0001c0001t0023g0247
a0001c0001t0005g0159
a0001c0001t0023g0247
 2 HG02071.hp2
HG02135.hp1
HG02071.hp2
HG02135.hp1
 intron_variant MODIFIER c.1517+658_1517+677d
others(22): Show 
c.1517+658_1517+677delAAAAAAAAAAAATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619522
chr7:105619522 ATATATAT
others(14): Show 
ATATATATATTTTTTTTTTTTT
 A
A
 3 a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0058g0018
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0058g0018
 3 HG03831.hp1
NA19066.hp2
NA19079.hp2
HG03831.hp1
NA19066.hp2
NA19079.hp2
 intron_variant MODIFIER c.1517+657_1517+677d
others(23): Show 
c.1517+657_1517+677delAAAAAAAAAAAAATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619522
chr7:105619522 ATATATAT
others(15): Show 
ATATATATATTTTTTTTTTTTTT
 A
A
 1 a0001c0001t0009g0055
a0001c0001t0009g0055
 1 NA19086.hp2
NA19086.hp2
 intron_variant MODIFIER c.1517+656_1517+677d
others(24): Show 
c.1517+656_1517+677delAAAAAAAAAAAAAATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619522
chr7:105619522 ATATATAT
others(24): Show 
ATATATATATTTTTTTTTTTTTTTTTTTTTTT
 A
A
 2 a0001c0001t0004g0198
a0001c0001t0015g0060
a0001c0001t0004g0198
a0001c0001t0015g0060
 2 HG00735.hp1
HG01175.hp1
HG00735.hp1
HG01175.hp1
 intron_variant MODIFIER c.1517+647_1517+677d
others(33): Show 
c.1517+647_1517+677delAAAAAAAAAAAAAAAAAAAAAAATATAT
ATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619522
chr7:105619524 ATATATAT
others(7): Show 
ATATATATTTTTTTT
 A
A
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.1517+662_1517+675d
others(16): Show 
c.1517+662_1517+675delAAAAAAAATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619524
chr7:105619524 ATATATAT
others(10): Show 
ATATATATTTTTTTTTTT
 A
A
 1 a0001c0001t0015g0019
a0001c0001t0015g0019
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1517+659_1517+675d
others(19): Show 
c.1517+659_1517+675delAAAAAAAAAAATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619524
chr7:105619524 ATATATAT
others(11): Show 
ATATATATTTTTTTTTTTT
 A
A
 1 a0001c0001t0005g0027
a0001c0001t0005g0027
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.1517+658_1517+675d
others(20): Show 
c.1517+658_1517+675delAAAAAAAAAAAATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619524
chr7:105619524 ATATATAT
others(12): Show 
ATATATATTTTTTTTTTTTT
 A
A
 2 a0001c0001t0005g0025
a0001c0008t0014g0165
a0001c0001t0005g0025
a0001c0008t0014g0165
 2 NA18948.hp2
NA19067.hp1
NA18948.hp2
NA19067.hp1
 intron_variant MODIFIER c.1517+657_1517+675d
others(21): Show 
c.1517+657_1517+675delAAAAAAAAAAAAATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619524
chr7:105619524 ATATATAT
others(13): Show 
ATATATATTTTTTTTTTTTTT
 A
A
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.1517+656_1517+675d
others(22): Show 
c.1517+656_1517+675delAAAAAAAAAAAAAATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619524
chr7:105619524 ATATATAT
others(14): Show 
ATATATATTTTTTTTTTTTTTT
 A
A
 6 a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0238
others(3): Show 
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0238
a0001c0001t0011g0170
a0001c0001t0023g0183
a0001c0001t0039g0180
 6 HG02027.hp1
HG03098.hp1
HG03491.hp1
others(3): Show 
HG02027.hp1
HG03098.hp1
HG03491.hp1
NA18943.hp1
NA18950.hp1
NA18957.hp1
 intron_variant MODIFIER c.1517+655_1517+675d
others(23): Show 
c.1517+655_1517+675delAAAAAAAAAAAAAAATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619524
chr7:105619524 ATATATAT
others(15): Show 
ATATATATTTTTTTTTTTTTTTT
 A
A
 1 a0001c0007t0038g0158
a0001c0007t0038g0158
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.1517+654_1517+675d
others(24): Show 
c.1517+654_1517+675delAAAAAAAAAAAAAAAATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619524
chr7:105619524 ATATATAT
others(22): Show 
ATATATATTTTTTTTTTTTTTTTTTTTTTT
 A
A
 2 a0001c0001t0002g0239
a0001c0001t0005g0182
a0001c0001t0002g0239
a0001c0001t0005g0182
 2 HG00323.hp1
HG01433.hp1
HG00323.hp1
HG01433.hp1
 intron_variant MODIFIER c.1517+647_1517+675d
others(31): Show 
c.1517+647_1517+675delAAAAAAAAAAAAAAAAAAAAAAATATAT
A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619524
chr7:105619526 ATATATTT
others(6): Show 
ATATATTTTTTTTT
 A
A
 1 a0001c0001t0046g0138
a0001c0001t0046g0138
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1517+661_1517+673d
others(15): Show 
c.1517+661_1517+673delAAAAAAAAATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619526
chr7:105619526 ATATATTT
others(8): Show 
ATATATTTTTTTTTTT
 A
A
 1 a0001c0001t0010g0051
a0001c0001t0010g0051
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1517+659_1517+673d
others(17): Show 
c.1517+659_1517+673delAAAAAAAAAAATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619526
chr7:105619526 ATATATTT
others(10): Show 
ATATATTTTTTTTTTTTT
 A
A
 4 a0001c0001t0001g0225
a0001c0001t0002g0177
a0001c0001t0009g0141
others(1): Show 
a0001c0001t0001g0225
a0001c0001t0002g0177
a0001c0001t0009g0141
a0001c0001t0043g0105
 4 HG02083.hp2
NA18522.hp2
NA18948.hp1
others(1): Show 
HG02083.hp2
NA18522.hp2
NA18948.hp1
NA19074.hp1
 intron_variant MODIFIER c.1517+657_1517+673d
others(19): Show 
c.1517+657_1517+673delAAAAAAAAAAAAATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619526
chr7:105619526 ATATATTT
others(11): Show 
ATATATTTTTTTTTTTTTT
 A
A
 3 a0001c0001t0002g0173
a0001c0001t0013g0251
a0001c0001t0018g0094
a0001c0001t0002g0173
a0001c0001t0013g0251
a0001c0001t0018g0094
 3 HG01978.hp1
HG02165.hp2
NA20300.hp1
HG01978.hp1
HG02165.hp2
NA20300.hp1
 intron_variant MODIFIER c.1517+656_1517+673d
others(20): Show 
c.1517+656_1517+673delAAAAAAAAAAAAAATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619526
chr7:105619526 ATATATTT
others(12): Show 
ATATATTTTTTTTTTTTTTT
 A
A
 6 a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
others(3): Show 
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0167
a0001c0005t0007g0209
 6 HG01891.hp1
HG02071.hp1
NA18989.hp2
others(3): Show 
HG01891.hp1
HG02071.hp1
NA18989.hp2
NA19056.hp1
NA19088.hp1
NA19088.hp2
 intron_variant MODIFIER c.1517+655_1517+673d
others(21): Show 
c.1517+655_1517+673delAAAAAAAAAAAAAAATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619526
chr7:105619526 ATATATTT
others(14): Show 
ATATATTTTTTTTTTTTTTTTT
 A
A
 2 a0001c0001t0009g0103
a0001c0001t0013g0156
a0001c0001t0009g0103
a0001c0001t0013g0156
 2 HG02895.hp2
NA18943.hp2
HG02895.hp2
NA18943.hp2
 intron_variant MODIFIER c.1517+653_1517+673d
others(23): Show 
c.1517+653_1517+673delAAAAAAAAAAAAAAAAATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619526
chr7:105619528 ATATTTTT
others(5): Show 
ATATTTTTTTTTT
 A
A
 1 a0001c0001t0002g0231
a0001c0001t0002g0231
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1517+660_1517+671d
others(14): Show 
c.1517+660_1517+671delAAAAAAAAAATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619528
chr7:105619528 ATATTTTT
others(8): Show 
ATATTTTTTTTTTTTT
 A
A
 1 a0001c0001t0042g0161
a0001c0001t0042g0161
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.1517+657_1517+671d
others(17): Show 
c.1517+657_1517+671delAAAAAAAAAAAAATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619528
chr7:105619528 ATATTTTT
others(10): Show 
ATATTTTTTTTTTTTTTT
 A
A
 5 a0001c0001t0002g0002
a0001c0001t0002g0162
a0001c0001t0002g0186
others(2): Show 
a0001c0001t0002g0002
a0001c0001t0002g0162
a0001c0001t0002g0186
a0001c0001t0002g0188
a0007c0009t0007g0096
 5 HG02129.hp1
HG02630.hp2
NA18945.hp1
others(2): Show 
HG02129.hp1
HG02630.hp2
NA18945.hp1
NA19054.hp1
NA19091.hp1
 intron_variant MODIFIER c.1517+655_1517+671d
others(19): Show 
c.1517+655_1517+671delAAAAAAAAAAAAAAATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619528
chr7:105619528 ATATTTTT
others(11): Show 
ATATTTTTTTTTTTTTTTT
 A
A
 5 a0001c0001t0001g0119
a0001c0001t0002g0160
a0001c0001t0015g0193
others(2): Show 
a0001c0001t0001g0119
a0001c0001t0002g0160
a0001c0001t0015g0193
a0001c0001t0037g0065
a0003c0003t0020g0199
 5 HG01168.hp1
HG01243.hp1
HG01358.hp1
others(2): Show 
HG01168.hp1
HG01243.hp1
HG01358.hp1
HG02280.hp1
NA18962.hp1
 intron_variant MODIFIER c.1517+654_1517+671d
others(20): Show 
c.1517+654_1517+671delAAAAAAAAAAAAAAAATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619528
chr7:105619528 ATATTTTT
others(12): Show 
ATATTTTTTTTTTTTTTTTT
 A
A
 3 a0001c0001t0004g0023
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0004g0023
a0001c0001t0016g0061
a0001c0001t0016g0176
 3 HG01192.hp2
HG01952.hp1
NA19087.hp1
HG01192.hp2
HG01952.hp1
NA19087.hp1
 intron_variant MODIFIER c.1517+653_1517+671d
others(21): Show 
c.1517+653_1517+671delAAAAAAAAAAAAAAAAATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619528
chr7:105619530 A
A
 T
T
 1 a0001c0001t0007g0223
a0001c0001t0007g0223
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1517+670T>A
c.1517+670T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619530
chr7:105619530 ATTTTT
ATTTTT
 A
A
 5 a0001c0001t0016g0069
a0001c0001t0018g0131
a0001c0001t0019g0230
others(2): Show 
a0001c0001t0016g0069
a0001c0001t0018g0131
a0001c0001t0019g0230
a0001c0001t0026g0234
a0001c0006t0001g0112
 5 HG01109.hp2
HG02148.hp2
HG03130.hp1
others(2): Show 
HG01109.hp2
HG02148.hp2
HG03130.hp1
HG03491.hp2
NA18747.hp1
 intron_variant MODIFIER c.1517+665_1517+669d
others(7): Show 
c.1517+665_1517+669delAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619530
chr7:105619530 ATTTTTTT
ATTTTTTT
 A
A
 7 a0001c0001t0003g0071
a0001c0001t0010g0111
a0001c0001t0014g0038
others(4): Show 
a0001c0001t0003g0071
a0001c0001t0010g0111
a0001c0001t0014g0038
a0001c0001t0019g0178
a0001c0001t0021g0130
a0002c0002t0032g0149
a0002c0002t0032g0226
 7 HG00738.hp2
HG01074.hp2
HG01934.hp1
others(4): Show 
HG00738.hp2
HG01074.hp2
HG01934.hp1
HG02818.hp2
HG03471.hp1
HG03831.hp2
NA19240.hp2
 intron_variant MODIFIER c.1517+663_1517+669d
others(9): Show 
c.1517+663_1517+669delAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619530
chr7:105619530 ATTTTTTT
others(2): Show 
ATTTTTTTTT
 A
A
 8 a0001c0001t0001g0005
a0001c0001t0002g0016
a0001c0001t0004g0124
others(5): Show 
a0001c0001t0001g0005
a0001c0001t0002g0016
a0001c0001t0004g0124
a0001c0001t0006g0034
a0001c0001t0008g0216
a0001c0001t0012g0028
a0001c0001t0012g0232
a0002c0002t0022g0066
 8 HG01167.hp1
HG01169.hp1
HG02165.hp1
others(5): Show 
HG01167.hp1
HG01169.hp1
HG02165.hp1
HG02647.hp1
HG03225.hp1
HG03239.hp1
NA18994.hp1
NA19060.hp2
 intron_variant MODIFIER c.1517+661_1517+669d
others(11): Show 
c.1517+661_1517+669delAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619530
chr7:105619530 ATTTTTTT
others(3): Show 
ATTTTTTTTTT
 A
A
 9 a0001c0001t0001g0145
a0001c0001t0003g0147
a0001c0001t0007g0057
others(6): Show 
a0001c0001t0001g0145
a0001c0001t0003g0147
a0001c0001t0007g0057
a0001c0001t0008g0249
a0001c0001t0017g0113
a0001c0001t0033g0040
a0002c0002t0030g0208
a0002c0002t0033g0221
a0002c0002t0059g0200
 9 HG01081.hp2
HG02896.hp1
HG02896.hp2
others(6): Show 
HG01081.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03209.hp2
HG03540.hp2
NA19005.hp1
NA19068.hp2
NA19074.hp2
 intron_variant MODIFIER c.1517+660_1517+669d
others(12): Show 
c.1517+660_1517+669delAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619530
chr7:105619530 ATTTTTTT
others(4): Show 
ATTTTTTTTTTT
 A
A
 8 a0001c0001t0003g0070
a0001c0001t0004g0039
a0001c0001t0004g0084
others(5): Show 
a0001c0001t0003g0070
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0219
a0001c0001t0008g0075
a0001c0001t0027g0134
a0002c0002t0022g0220
a0004c0013t0036g0107
 8 HG00280.hp1
HG01069.hp2
HG02559.hp1
others(5): Show 
HG00280.hp1
HG01069.hp2
HG02559.hp1
HG02723.hp1
HG02723.hp2
HG03130.hp2
HG03139.hp1
NA19086.hp1
 intron_variant MODIFIER c.1517+659_1517+669d
others(13): Show 
c.1517+659_1517+669delAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619530
chr7:105619530 ATTTTTTT
others(5): Show 
ATTTTTTTTTTTT
 A
A
 11 a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0003g0043
others(8): Show 
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0003g0043
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0014g0166
a0001c0001t0019g0063
a0001c0001t0026g0189
a0001c0001t0054g0087
a0001c0001t0055g0252
a0002c0002t0030g0212
 11 HG01109.hp1
HG01168.hp2
HG01261.hp2
others(8): Show 
HG01109.hp1
HG01168.hp2
HG01261.hp2
HG01496.hp2
HG01884.hp1
HG01981.hp2
HG02132.hp2
HG02523.hp1
HG03471.hp2
NA18995.hp2
NA19009.hp2
 intron_variant MODIFIER c.1517+658_1517+669d
others(14): Show 
c.1517+658_1517+669delAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619530
chr7:105619530 ATTTTTTT
others(6): Show 
ATTTTTTTTTTTTT
 A
A
 4 a0001c0001t0001g0026
a0001c0001t0003g0118
a0001c0001t0008g0045
others(1): Show 
a0001c0001t0001g0026
a0001c0001t0003g0118
a0001c0001t0008g0045
a0001c0001t0022g0224
 4 HG01169.hp2
HG02055.hp1
HG03688.hp1
others(1): Show 
HG01169.hp2
HG02055.hp1
HG03688.hp1
NA19079.hp1
 intron_variant MODIFIER c.1517+657_1517+669d
others(15): Show 
c.1517+657_1517+669delAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619530
chr7:105619530 ATTTTTTT
others(7): Show 
ATTTTTTTTTTTTTT
 A
A
 3 a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0031g0172
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0031g0172
 3 HG01243.hp2
HG01257.hp2
HG03669.hp2
HG01243.hp2
HG01257.hp2
HG03669.hp2
 intron_variant MODIFIER c.1517+656_1517+669d
others(16): Show 
c.1517+656_1517+669delAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619530
chr7:105619530 ATTTTTTT
others(8): Show 
ATTTTTTTTTTTTTTT
 A
A
 18 a0001c0001t0002g0053
a0001c0001t0002g0187
a0001c0001t0003g0100
others(15): Show 
a0001c0001t0002g0053
a0001c0001t0002g0187
a0001c0001t0003g0100
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0006g0022
a0001c0001t0009g0097
a0001c0001t0010g0095
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0020g0169
 18 HG00323.hp2
HG00741.hp2
HG01069.hp1
others(15): Show 
HG00323.hp2
HG00741.hp2
HG01069.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01517.hp2
HG01952.hp2
HG02155.hp2
HG02300.hp1
HG02738.hp1
NA18994.hp2
NA19000.hp1
NA19005.hp2
 intron_variant MODIFIER c.1517+655_1517+669d
others(17): Show 
c.1517+655_1517+669delAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619530
chr7:105619530 ATTTTTTT
others(9): Show 
ATTTTTTTTTTTTTTTT
 A
A
 2 a0001c0001t0015g0140
a0001c0001t0035g0151
a0001c0001t0015g0140
a0001c0001t0035g0151
 2 HG01515.hp2
homoSapiens_chm13v2.hp1
HG01515.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+654_1517+669d
others(18): Show 
c.1517+654_1517+669delAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619530
chr7:105619530 ATTTTTTT
others(10): Show 
ATTTTTTTTTTTTTTTTT
 A
A
 9 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0003g0050
others(6): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0003g0050
a0001c0001t0004g0128
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0025g0104
a0001c0001t0025g0240
a0003c0003t0005g0079
 9 HG00642.hp2
HG01255.hp1
HG01516.hp1
others(6): Show 
HG00642.hp2
HG01255.hp1
HG01516.hp1
HG01943.hp1
HG02602.hp1
HG02818.hp1
HG03490.hp1
HG06807.hp2
NA19068.hp1
 intron_variant MODIFIER c.1517+653_1517+669d
others(19): Show 
c.1517+653_1517+669delAAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619530
chr7:105619530 ATTTTTTT
others(11): Show 
ATTTTTTTTTTTTTTTTTT
 A
A
 1 a0001c0001t0004g0246
a0001c0001t0004g0246
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.1517+652_1517+669d
others(20): Show 
c.1517+652_1517+669delAAAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619530
chr7:105619530 ATTTTTTT
others(12): Show 
ATTTTTTTTTTTTTTTTTTT
 A
A
 1 a0001c0001t0048g0132
a0001c0001t0048g0132
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.1517+651_1517+669d
others(21): Show 
c.1517+651_1517+669delAAAAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619530
chr7:105619531 T
T
 TA
TA
 9 a0001c0001t0001g0033
a0001c0001t0001g0222
a0001c0001t0009g0054
others(6): Show 
a0001c0001t0001g0033
a0001c0001t0001g0222
a0001c0001t0009g0054
a0001c0001t0011g0101
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0052g0133
 9 HG01099.hp1
HG01891.hp2
HG02280.hp2
others(6): Show 
HG01099.hp1
HG01891.hp2
HG02280.hp2
HG02738.hp2
HG03516.hp2
NA18945.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
 intron_variant MODIFIER c.1517+668_1517+669i
others(3): Show 
c.1517+668_1517+669insT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619531
chr7:105619531 T
T
 TATA
TATA
 5 a0001c0001t0001g0214
a0001c0001t0006g0001
a0001c0001t0064g0098
others(2): Show 
a0001c0001t0001g0214
a0001c0001t0006g0001
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0012t0003g0047
 5 HG02056.hp2
HG02135.hp2
HG03490.hp2
others(2): Show 
HG02056.hp2
HG02135.hp2
HG03490.hp2
HG06807.hp1
NA19054.hp2
 intron_variant MODIFIER c.1517+668_1517+669i
others(5): Show 
c.1517+668_1517+669insTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619531
chr7:105619531 T
T
 TATATA
TATATA
 5 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
others(2): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0003g0004
a0001c0001t0028g0037
 5 HG01516.hp2
HG01517.hp1
HG02735.hp1
others(2): Show 
HG01516.hp2
HG01517.hp1
HG02735.hp1
NA18950.hp2
NA19009.hp1
 intron_variant MODIFIER c.1517+668_1517+669i
others(7): Show 
c.1517+668_1517+669insTATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619531
chr7:105619531 T
T
 TATATATA
TATATATA
 5 a0001c0001t0001g0017
a0001c0001t0001g0044
a0001c0001t0003g0006
others(2): Show 
a0001c0001t0001g0017
a0001c0001t0001g0044
a0001c0001t0003g0006
a0001c0001t0024g0077
a0001c0001t0044g0110
 5 HG00673.hp1
HG02965.hp1
HG03688.hp2
others(2): Show 
HG00673.hp1
HG02965.hp1
HG03688.hp2
NA19010.hp2
NA19056.hp2
 intron_variant MODIFIER c.1517+668_1517+669i
others(9): Show 
c.1517+668_1517+669insTATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619531
chr7:105619531 T
T
 TATATATA
others(2): Show 
TATATATATA
 3 a0001c0001t0001g0074
a0001c0001t0001g0106
a0001c0001t0061g0036
a0001c0001t0001g0074
a0001c0001t0001g0106
a0001c0001t0061g0036
 3 HG01099.hp2
HG02132.hp1
NA18957.hp2
HG01099.hp2
HG02132.hp1
NA18957.hp2
 intron_variant MODIFIER c.1517+668_1517+669i
others(11): Show 
c.1517+668_1517+669insTATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619531
chr7:105619531 T
T
 TATATATA
others(4): Show 
TATATATATATA
 1 a0001c0001t0001g0163
a0001c0001t0001g0163
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.1517+668_1517+669i
others(13): Show 
c.1517+668_1517+669insTATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619531
chr7:105619531 T
T
 TATATATA
others(6): Show 
TATATATATATATA
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1517+668_1517+669i
others(15): Show 
c.1517+668_1517+669insTATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619531
chr7:105619532 T
T
 A
A
 14 a0001c0001t0001g0003
a0001c0001t0001g0078
a0001c0001t0001g0205
others(11): Show 
a0001c0001t0001g0003
a0001c0001t0001g0078
a0001c0001t0001g0205
a0001c0001t0003g0030
a0001c0001t0005g0248
a0001c0001t0007g0218
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0015g0109
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0041g0196
a0001c0001t0062g0007
 14 HG00735.hp2
HG01074.hp1
HG01256.hp1
others(11): Show 
HG00735.hp2
HG01074.hp1
HG01256.hp1
HG01978.hp2
HG02451.hp2
HG02630.hp1
HG02735.hp2
HG03041.hp2
NA18747.hp2
NA18971.hp2
NA19000.hp2
NA19030.hp2
NA19060.hp1
NA19087.hp2
 intron_variant MODIFIER c.1517+668A>T
c.1517+668A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619532
chr7:105619533 T
T
 A
A
 30 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
others(27): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0006g0001
a0001c0001t0009g0054
a0001c0001t0011g0101
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0061g0036
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0012t0003g0047
 30 HG00673.hp1
HG01099.hp1
HG01099.hp2
others(27): Show 
HG00673.hp1
HG01099.hp1
HG01099.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02280.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp2
HG02965.hp1
HG03490.hp2
HG03516.hp2
HG03688.hp2
HG06807.hp1
NA18945.hp2
NA18950.hp2
NA18957.hp2
NA18971.hp1
NA18995.hp1
NA19009.hp1
NA19010.hp2
NA19043.hp1
NA19054.hp2
NA19056.hp2
 intron_variant MODIFIER c.1517+667A>T
c.1517+667A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619533
chr7:105619534 T
T
 A
A
 16 a0001c0001t0001g0003
a0001c0001t0001g0078
a0001c0001t0001g0088
others(13): Show 
a0001c0001t0001g0003
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0205
a0001c0001t0003g0030
a0001c0001t0005g0248
a0001c0001t0007g0218
a0001c0001t0009g0013
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0015g0109
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0041g0196
a0001c0001t0062g0007
 16 HG00735.hp2
HG01074.hp1
HG01256.hp1
others(13): Show 
HG00735.hp2
HG01074.hp1
HG01256.hp1
HG01978.hp2
HG02451.hp2
HG02630.hp1
HG02735.hp2
HG03041.hp2
HG03239.hp2
NA18747.hp2
NA18970.hp2
NA18971.hp2
NA19000.hp2
NA19030.hp2
NA19060.hp1
NA19087.hp2
 intron_variant MODIFIER c.1517+666A>T
c.1517+666A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619534
chr7:105619535 T
T
 A
A
 29 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
others(26): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0106
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0006g0001
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0061g0036
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0012t0003g0047
 29 HG00673.hp1
HG01099.hp1
HG01099.hp2
others(26): Show 
HG00673.hp1
HG01099.hp1
HG01099.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01981.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02280.hp2
HG02572.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp2
HG02965.hp1
HG03490.hp2
HG03516.hp2
HG03688.hp2
HG06807.hp1
NA18957.hp2
NA18971.hp1
NA18995.hp1
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp2
 intron_variant MODIFIER c.1517+665A>T
c.1517+665A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619535
chr7:105619536 T
T
 A
A
 20 a0001c0001t0001g0003
a0001c0001t0001g0078
a0001c0001t0001g0088
others(17): Show 
a0001c0001t0001g0003
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0205
a0001c0001t0003g0030
a0001c0001t0005g0248
a0001c0001t0007g0218
a0001c0001t0009g0013
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0243
a0001c0001t0015g0109
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0041g0196
a0001c0001t0053g0031
a0001c0001t0062g0007
a0001c0001t0063g0041
 20 HG00735.hp2
HG01074.hp1
HG01256.hp1
others(17): Show 
HG00735.hp2
HG01074.hp1
HG01256.hp1
HG01515.hp1
HG01884.hp2
HG01978.hp2
HG02145.hp2
HG02451.hp2
HG02630.hp1
HG02735.hp2
HG03041.hp2
HG03239.hp2
NA18747.hp2
NA18970.hp2
NA18971.hp2
NA19000.hp2
NA19030.hp2
NA19060.hp1
NA19066.hp1
NA19087.hp2
 intron_variant MODIFIER c.1517+664A>T
c.1517+664A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619536
chr7:105619537 T
T
 A
A
 29 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
others(26): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0106
a0001c0001t0001g0163
a0001c0001t0001g0222
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0006g0001
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0016g0069
a0001c0001t0018g0131
a0001c0001t0019g0230
a0001c0001t0026g0234
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0034g0068
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0061g0036
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
 29 HG01099.hp1
HG01099.hp2
HG01109.hp2
others(26): Show 
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01981.hp1
HG02056.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp2
HG03130.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp2
HG03688.hp2
NA18747.hp1
NA18971.hp1
NA18995.hp1
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp2
 intron_variant MODIFIER c.1517+663A>T
c.1517+663A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619537
chr7:105619538 T
T
 A
A
 20 a0001c0001t0001g0003
a0001c0001t0001g0078
a0001c0001t0001g0088
others(17): Show 
a0001c0001t0001g0003
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0003g0030
a0001c0001t0003g0090
a0001c0001t0005g0248
a0001c0001t0007g0144
a0001c0001t0009g0013
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0243
a0001c0001t0015g0109
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0041g0196
a0001c0001t0053g0031
a0001c0001t0062g0007
a0001c0001t0063g0041
 20 HG00558.hp1
HG00735.hp2
HG01074.hp1
others(17): Show 
HG00558.hp1
HG00735.hp2
HG01074.hp1
HG01256.hp1
HG01515.hp1
HG01884.hp2
HG01978.hp2
HG02145.hp2
HG02630.hp1
HG02735.hp2
HG03239.hp2
NA18747.hp2
NA18970.hp2
NA18971.hp2
NA19000.hp2
NA19030.hp2
NA19060.hp1
NA19066.hp1
NA19087.hp2
NA20129.hp2
 intron_variant MODIFIER c.1517+662A>T
c.1517+662A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619538
chr7:105619539 T
T
 A
A
 21 a0001c0001t0001g0033
a0001c0001t0003g0004
a0001c0001t0003g0006
others(18): Show 
a0001c0001t0001g0033
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0071
a0001c0001t0009g0020
a0001c0001t0010g0111
a0001c0001t0014g0038
a0001c0001t0016g0069
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0026g0234
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0032g0149
a0002c0002t0032g0226
 21 HG00738.hp2
HG01074.hp2
HG01099.hp1
others(18): Show 
HG00738.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01934.hp1
HG01981.hp1
HG02135.hp2
HG02148.hp2
HG02602.hp2
HG02818.hp2
HG03130.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp2
HG03831.hp2
NA18971.hp1
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19240.hp2
 intron_variant MODIFIER c.1517+661A>T
c.1517+661A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619539
chr7:105619540 T
T
 A
A
 15 a0001c0001t0001g0003
a0001c0001t0003g0030
a0001c0001t0003g0090
others(12): Show 
a0001c0001t0001g0003
a0001c0001t0003g0030
a0001c0001t0003g0090
a0001c0001t0007g0144
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0243
a0001c0001t0015g0109
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0063g0041
 15 HG00558.hp1
HG00735.hp2
HG01074.hp1
others(12): Show 
HG00558.hp1
HG00735.hp2
HG01074.hp1
HG01256.hp1
HG01346.hp2
HG01515.hp1
HG01884.hp2
HG01978.hp2
HG02145.hp2
HG02630.hp1
HG02735.hp2
HG03239.hp2
NA18971.hp2
NA19067.hp2
NA20129.hp2
 intron_variant MODIFIER c.1517+660A>T
c.1517+660A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619540
chr7:105619541 T
T
 A
A
 23 a0001c0001t0001g0005
a0001c0001t0001g0033
a0001c0001t0002g0016
others(20): Show 
a0001c0001t0001g0005
a0001c0001t0001g0033
a0001c0001t0002g0016
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0071
a0001c0001t0004g0124
a0001c0001t0006g0034
a0001c0001t0008g0216
a0001c0001t0009g0020
a0001c0001t0010g0111
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0014g0038
a0001c0001t0016g0069
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0026g0234
a0001c0001t0052g0133
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0032g0149
a0002c0002t0032g0226
 23 HG00738.hp2
HG01074.hp2
HG01109.hp2
others(20): Show 
HG00738.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01981.hp1
HG02148.hp2
HG02165.hp1
HG02647.hp1
HG02818.hp2
HG03130.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp2
HG03831.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19010.hp2
NA19060.hp2
NA19240.hp2
 intron_variant MODIFIER c.1517+659A>T
c.1517+659A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619541
chr7:105619542 T
T
 A
A
 17 a0001c0001t0001g0003
a0001c0001t0001g0145
a0001c0001t0003g0147
others(14): Show 
a0001c0001t0001g0003
a0001c0001t0001g0145
a0001c0001t0003g0147
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0010g0093
a0001c0001t0013g0243
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0033g0040
a0001c0001t0051g0035
a0001c0001t0053g0031
a0002c0002t0030g0208
a0002c0002t0033g0221
a0002c0002t0059g0200
 17 HG01074.hp1
HG01081.hp2
HG01346.hp2
others(14): Show 
HG01074.hp1
HG01081.hp2
HG01346.hp2
HG01515.hp1
HG01884.hp2
HG01978.hp2
HG02735.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03209.hp2
HG03540.hp2
NA19005.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA20129.hp2
 intron_variant MODIFIER c.1517+658A>T
c.1517+658A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619542
chr7:105619543 T
T
 A
A
 25 a0001c0001t0001g0005
a0001c0001t0002g0016
a0001c0001t0003g0070
others(22): Show 
a0001c0001t0001g0005
a0001c0001t0002g0016
a0001c0001t0003g0070
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0219
a0001c0001t0006g0034
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0009g0020
a0001c0001t0010g0111
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0014g0038
a0001c0001t0016g0069
a0001c0001t0021g0130
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0149
a0002c0002t0032g0226
a0004c0013t0036g0107
 25 HG00280.hp1
HG00738.hp2
HG01069.hp2
others(22): Show 
HG00280.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01167.hp1
HG01169.hp1
HG01981.hp1
HG02148.hp2
HG02165.hp1
HG02559.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03491.hp2
HG03831.hp2
NA18994.hp1
NA19060.hp2
NA19086.hp1
NA19240.hp2
 intron_variant MODIFIER c.1517+657A>T
c.1517+657A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619543
chr7:105619544 T
T
 A
A
 15 a0001c0001t0007g0144
a0001c0001t0008g0073
a0001c0001t0013g0243
others(12): Show 
a0001c0001t0007g0144
a0001c0001t0008g0073
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0017g0113
a0001c0001t0019g0063
a0001c0001t0026g0189
a0001c0001t0033g0040
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0055g0252
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
a0002c0002t0059g0200
 15 HG01081.hp2
HG01109.hp1
HG01168.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01168.hp2
HG01261.hp2
HG01346.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01981.hp2
HG02896.hp2
HG03041.hp1
HG03209.hp2
HG03471.hp2
HG03540.hp2
NA20129.hp2
 intron_variant MODIFIER c.1517+656A>T
c.1517+656A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619544
chr7:105619545 T
T
 A
A
 23 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0002g0016
others(20): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0002g0016
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0219
a0001c0001t0006g0034
a0001c0001t0009g0020
a0001c0001t0010g0111
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0016g0069
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0026g0234
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0149
a0002c0002t0032g0226
a0004c0013t0036g0107
 23 HG00280.hp1
HG00738.hp2
HG01069.hp2
others(20): Show 
HG00280.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01981.hp1
HG02055.hp1
HG02148.hp2
HG02165.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG03130.hp1
HG03225.hp1
HG03239.hp1
HG03491.hp2
HG03688.hp1
NA18994.hp1
NA19060.hp2
NA19086.hp1
NA19240.hp2
 intron_variant MODIFIER c.1517+655A>T
c.1517+655A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619545
chr7:105619546 T
T
 A
A
 15 a0001c0001t0008g0073
a0001c0001t0012g0244
a0001c0001t0013g0243
others(12): Show 
a0001c0001t0008g0073
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0017g0113
a0001c0001t0019g0063
a0001c0001t0026g0189
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0055g0252
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
a0002c0002t0059g0200
 15 HG01081.hp2
HG01109.hp1
HG01168.hp2
others(12): Show 
HG01081.hp2
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01257.hp2
HG01261.hp2
HG01346.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG02896.hp2
HG03041.hp1
HG03209.hp2
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.1517+654A>T
c.1517+654A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619546
chr7:105619547 T
T
 A
A
 31 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0002g0016
others(28): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0002g0016
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0219
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0016g0069
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0022g0224
a0001c0001t0026g0234
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0149
a0002c0002t0032g0226
a0004c0013t0036g0107
 31 HG00280.hp1
HG00323.hp2
HG00738.hp2
others(28): Show 
HG00280.hp1
HG00323.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01517.hp2
HG02055.hp1
HG02148.hp2
HG02165.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG03130.hp1
HG03225.hp1
HG03239.hp1
HG03491.hp2
HG03688.hp1
NA18994.hp1
NA19000.hp1
NA19060.hp2
NA19086.hp1
 intron_variant MODIFIER c.1517+653A>T
c.1517+653A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619547
chr7:105619548 T
T
 A
A
 11 a0001c0001t0012g0244
a0001c0001t0015g0140
a0001c0001t0017g0113
others(8): Show 
a0001c0001t0012g0244
a0001c0001t0015g0140
a0001c0001t0017g0113
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0051g0035
a0001c0001t0055g0252
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
a0002c0002t0059g0200
 11 HG01243.hp2
HG01257.hp2
HG01346.hp2
others(8): Show 
HG01243.hp2
HG01257.hp2
HG01346.hp2
HG01515.hp2
HG01884.hp1
HG02896.hp2
HG03041.hp1
HG03209.hp2
HG03471.hp2
HG03540.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+652A>T
c.1517+652A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619548
chr7:105619549 T
T
 A
A
 23 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
others(20): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0003g0150
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0219
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0014g0237
a0001c0001t0016g0069
a0001c0001t0019g0062
a0001c0001t0022g0224
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0149
a0002c0002t0032g0226
a0004c0013t0036g0107
 23 HG00280.hp1
HG00323.hp2
HG00642.hp2
others(20): Show 
HG00280.hp1
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG02055.hp1
HG02165.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG03130.hp1
HG03225.hp1
HG03239.hp1
HG03491.hp2
NA18994.hp1
NA19000.hp1
NA19060.hp2
NA19086.hp1
 intron_variant MODIFIER c.1517+651A>T
c.1517+651A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619549
chr7:105619550 T
T
 A
A
 3 a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0055g0252
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0055g0252
 3 HG01257.hp2
HG01884.hp1
homoSapiens_chm13v2.hp1
HG01257.hp2
HG01884.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+650A>T
c.1517+650A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619550
chr7:105619551 T
T
 A
A
 12 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
others(9): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0014g0237
a0001c0001t0048g0132
 12 HG00323.hp2
HG00642.hp2
HG00738.hp2
others(9): Show 
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01167.hp1
HG01169.hp1
HG02165.hp1
HG02523.hp2
HG03239.hp1
NA18994.hp1
NA19000.hp1
NA19060.hp2
NA19086.hp1
 intron_variant MODIFIER c.1517+649A>T
c.1517+649A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619551
chr7:105619552 T
T
 A
A
 1 a0001c0001t0031g0172
a0001c0001t0031g0172
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.1517+648A>T
c.1517+648A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619552
chr7:105619553 T
T
 A
A
 4 a0001c0001t0001g0059
a0001c0001t0012g0028
a0001c0001t0012g0232
others(1): Show 
a0001c0001t0001g0059
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0014g0237
 4 HG00323.hp2
HG00642.hp2
HG01167.hp1
others(1): Show 
HG00323.hp2
HG00642.hp2
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.1517+647A>T
c.1517+647A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619553
chr7:105619555 T
T
 A
A
 3 a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0014g0237
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0014g0237
 3 HG00323.hp2
HG01167.hp1
HG01169.hp1
HG00323.hp2
HG01167.hp1
HG01169.hp1
 intron_variant MODIFIER c.1517+645A>T
c.1517+645A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619555
chr7:105619572 G
G
 A
A
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.1517+628C>T
c.1517+628C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619572
chr7:105619821 C
C
 T
T
 1 a0001c0001t0034g0068
a0001c0001t0034g0068
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1517+379G>A
c.1517+379G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619821
chr7:105619889 A
A
 G
G
 242 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(239): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 242 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(239): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1517+311T>C
c.1517+311T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619889
chr7:105619904 GC
GC
 G
G
 14 a0001c0001t0001g0201
a0001c0001t0004g0135
a0001c0001t0004g0137
others(11): Show 
a0001c0001t0001g0201
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0018g0058
a0001c0001t0027g0008
a0001c0001t0029g0215
 14 HG02451.hp1
HG02559.hp2
HG02572.hp2
others(11): Show 
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02647.hp2
HG02723.hp1
HG03130.hp1
HG03139.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.1517+295delG
c.1517+295delG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105619904
chr7:105620056 G
G
 A
A
 2 a0001c0001t0016g0136
a0001c0001t0040g0207
a0001c0001t0016g0136
a0001c0001t0040g0207
 2 HG03098.hp2
NA18906.hp2
HG03098.hp2
NA18906.hp2
 intron_variant MODIFIER c.1517+144C>T
c.1517+144C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105620056
chr7:105620105 T
T
 C
C
 3 a0001c0001t0005g0206
a0001c0001t0056g0210
a0006c0010t0031g0204
a0001c0001t0005g0206
a0001c0001t0056g0210
a0006c0010t0031g0204
 3 HG02055.hp2
HG03225.hp2
HG03579.hp2
HG02055.hp2
HG03225.hp2
HG03579.hp2
 intron_variant MODIFIER c.1517+95A>G
c.1517+95A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 9/11 chr7 105620105
chr7:105620654 G
G
 A
A
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1396-333C>T
c.1396-333C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105620654
chr7:105620678 T
T
 C
C
 2 a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0157
a0001c0001t0011g0164
 2 NA19003.hp2
NA19085.hp2
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.1396-357A>G
c.1396-357A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105620678
chr7:105620730 A
A
 G
G
 17 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
others(14): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0198
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0031g0172
a0001c0001t0048g0132
a0001c0006t0001g0112
 17 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(14): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp2
HG01175.hp1
HG01257.hp2
HG01433.hp1
HG02165.hp1
HG02523.hp2
HG03239.hp1
HG03491.hp2
HG04199.hp1
NA18994.hp1
NA19000.hp1
NA19060.hp2
NA19086.hp1
 intron_variant MODIFIER c.1396-409T>C
c.1396-409T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105620730
chr7:105620857 T
T
 C
C
 1 a0001c0001t0017g0195
a0001c0001t0017g0195
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1396-536A>G
c.1396-536A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105620857
chr7:105620886 C
C
 CTG
CTG
 242 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(239): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 242 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(239): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1396-567_1396-566d
others(4): Show 
c.1396-567_1396-566dupCA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105620886
chr7:105620896 G
G
 GA
GA
 220 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(217): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0101
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0032g0226
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 220 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(217): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1396-576dupT
c.1396-576dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105620896
chr7:105620896 G
G
 GAA
GAA
 23 a0001c0001t0002g0187
a0001c0001t0003g0076
a0001c0001t0003g0086
others(20): Show 
a0001c0001t0002g0187
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0084
a0001c0001t0008g0015
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0022g0224
a0001c0001t0033g0040
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0002c0002t0059g0200
 23 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(20): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG02015.hp2
HG02055.hp1
HG02723.hp2
HG02818.hp2
HG02896.hp2
HG03041.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp2
NA18962.hp2
NA18970.hp1
NA18994.hp2
NA19003.hp2
NA19085.hp2
NA19087.hp1
NA19091.hp2
 intron_variant MODIFIER c.1396-577_1396-576d
others(4): Show 
c.1396-577_1396-576dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105620896
chr7:105621394 G
G
 A
A
 242 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(239): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 242 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(239): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1396-1073C>T
c.1396-1073C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105621394
chr7:105621446 G
G
 C
C
 3 a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0052g0133
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0052g0133
 3 HG01074.hp1
HG02630.hp1
HG03516.hp2
HG01074.hp1
HG02630.hp1
HG03516.hp2
 intron_variant MODIFIER c.1396-1125C>G
c.1396-1125C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105621446
chr7:105621543 C
C
 T
T
 1 a0001c0001t0001g0163
a0001c0001t0001g0163
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.1396-1222G>A
c.1396-1222G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105621543
chr7:105621550 T
T
 C
C
 31 a0001c0001t0001g0026
a0001c0001t0001g0119
a0001c0001t0001g0181
others(28): Show 
a0001c0001t0001g0026
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0225
a0001c0001t0003g0050
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0006g0022
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0055g0252
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0007c0009t0007g0096
 31 HG00280.hp1
HG00741.hp2
HG01168.hp1
others(28): Show 
HG00280.hp1
HG00741.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02148.hp2
HG02280.hp1
HG02602.hp1
HG02630.hp2
HG02738.hp1
HG02818.hp1
HG03490.hp1
HG03688.hp1
HG06807.hp2
NA18522.hp2
NA19003.hp1
NA19068.hp1
NA19087.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1396-1229A>G
c.1396-1229A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105621550
chr7:105621619 C
C
 T
T
 1 a0001c0001t0017g0195
a0001c0001t0017g0195
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1396-1298G>A
c.1396-1298G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105621619
chr7:105621726 C
C
 A
A
 2 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0080
a0001c0001t0001g0081
 2 HG01516.hp2
HG01517.hp1
HG01516.hp2
HG01517.hp1
 intron_variant MODIFIER c.1396-1405G>T
c.1396-1405G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105621726
chr7:105621831 T
T
 C
C
 1 a0001c0001t0017g0195
a0001c0001t0017g0195
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1396-1510A>G
c.1396-1510A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105621831
chr7:105621892 T
T
 C
C
 1 a0001c0001t0037g0065
a0001c0001t0037g0065
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1396-1571A>G
c.1396-1571A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105621892
chr7:105621894 T
T
 TG
TG
 26 a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0231
others(23): Show 
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0231
a0001c0001t0003g0043
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0004g0084
a0001c0001t0005g0025
a0001c0001t0007g0057
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0013g0129
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0026g0189
a0001c0001t0033g0040
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0061g0036
 26 HG01069.hp2
HG01081.hp2
HG01099.hp2
others(23): Show 
HG01069.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01934.hp1
HG01981.hp2
HG02132.hp2
HG02523.hp1
HG03669.hp2
HG03831.hp2
NA18995.hp2
NA19005.hp1
NA19009.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19087.hp1
 intron_variant MODIFIER c.1396-1574dupC
c.1396-1574dupC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105621894
chr7:105622037 C
C
 T
T
 41 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(38): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0002g0021
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0015g0109
a0001c0001t0018g0046
a0001c0001t0019g0230
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0012t0003g0047
 41 HG00673.hp1
HG00735.hp2
HG01099.hp1
others(38): Show 
HG00673.hp1
HG00735.hp2
HG01099.hp1
HG01109.hp2
HG01256.hp1
HG01516.hp2
HG01517.hp1
HG01978.hp2
HG02027.hp2
HG02056.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02602.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02896.hp1
HG03239.hp2
HG03490.hp2
HG03688.hp2
NA18747.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18995.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19085.hp1
NA19087.hp2
 intron_variant MODIFIER c.1396-1716G>A
c.1396-1716G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105622037
chr7:105622132 G
G
 T
T
 239 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(236): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 239 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(236): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1396-1811C>A
c.1396-1811C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105622132
chr7:105622273 G
G
 T
T
 31 a0001c0001t0001g0026
a0001c0001t0001g0119
a0001c0001t0001g0181
others(28): Show 
a0001c0001t0001g0026
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0225
a0001c0001t0003g0050
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0006g0022
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0055g0252
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0007c0009t0007g0096
 31 HG00280.hp1
HG00741.hp2
HG01168.hp1
others(28): Show 
HG00280.hp1
HG00741.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02148.hp2
HG02280.hp1
HG02602.hp1
HG02630.hp2
HG02738.hp1
HG02818.hp1
HG03490.hp1
HG03688.hp1
HG06807.hp2
NA18522.hp2
NA19003.hp1
NA19068.hp1
NA19087.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1395+1802C>A
c.1395+1802C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105622273
chr7:105622451 G
G
 A
A
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1395+1624C>T
c.1395+1624C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105622451
chr7:105622612 T
T
 C
C
 224 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(221): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 224 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(221): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1395+1463A>G
c.1395+1463A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105622612
chr7:105622644 T
T
 C
C
 1 a0001c0001t0017g0113
a0001c0001t0017g0113
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1395+1431A>G
c.1395+1431A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105622644
chr7:105622756 C
C
 T
T
 11 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0008g0015
others(8): Show 
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0008g0015
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 11 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(8): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp2
NA18962.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
NA19091.hp2
 intron_variant MODIFIER c.1395+1319G>A
c.1395+1319G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105622756
chr7:105622866 G
G
 T
T
 5 a0001c0001t0003g0070
a0001c0001t0007g0144
a0001c0001t0008g0075
others(2): Show 
a0001c0001t0003g0070
a0001c0001t0007g0144
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0027g0134
 5 HG02559.hp1
HG02647.hp1
HG03130.hp2
others(2): Show 
HG02559.hp1
HG02647.hp1
HG03130.hp2
HG03139.hp1
NA20129.hp2
 intron_variant MODIFIER c.1395+1209C>A
c.1395+1209C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105622866
chr7:105622888 G
G
 A
A
 13 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0001g0163
others(10): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0001g0163
a0001c0001t0002g0016
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0031g0172
a0001c0001t0048g0132
a0001c0006t0001g0112
 13 HG00323.hp2
HG00642.hp2
HG00738.hp2
others(10): Show 
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01257.hp2
HG02129.hp2
HG02165.hp1
HG02523.hp2
HG03239.hp1
HG03491.hp2
NA18994.hp1
NA19000.hp1
NA19060.hp2
NA19086.hp1
 intron_variant MODIFIER c.1395+1187C>T
c.1395+1187C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105622888
chr7:105622895 C
C
 T
T
 47 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(44): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0015g0109
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0019g0230
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0034g0068
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0012t0003g0047
 47 HG00673.hp1
HG00735.hp2
HG01074.hp1
others(44): Show 
HG00673.hp1
HG00735.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp2
HG01256.hp1
HG01516.hp2
HG01517.hp1
HG01978.hp2
HG02027.hp2
HG02056.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02630.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02896.hp1
HG03239.hp2
HG03490.hp2
HG03516.hp2
HG03688.hp2
NA18747.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18995.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19085.hp1
NA19087.hp2
 intron_variant MODIFIER c.1395+1180G>A
c.1395+1180G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105622895
chr7:105622931 G
G
 A
A
 243 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(240): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 243 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(240): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1395+1144C>T
c.1395+1144C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105622931
chr7:105623245 C
C
 T
T
 11 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0008g0015
others(8): Show 
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0008g0015
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 11 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(8): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp2
NA18962.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
NA19091.hp2
 intron_variant MODIFIER c.1395+830G>A
c.1395+830G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105623245
chr7:105623770 T
T
 G
G
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.1395+305A>C
c.1395+305A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105623770
chr7:105623779 C
C
 A
A
 175 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(172): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
 175 HG00280.hp2
HG00558.hp1
HG00558.hp2
others(172): Show 
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1395+296G>T
c.1395+296G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105623779
chr7:105623855 T
T
 C
C
 51 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0059
others(48): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0050
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0005g0182
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0006t0001g0112
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0007c0009t0007g0096
 51 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(48): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02129.hp2
HG02148.hp2
HG02165.hp1
HG02280.hp1
HG02523.hp2
HG02602.hp1
HG02630.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG03688.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp2
NA18994.hp1
NA19000.hp1
NA19003.hp1
NA19060.hp2
NA19068.hp1
NA19086.hp1
NA19087.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1395+220A>G
c.1395+220A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105623855
chr7:105623856 G
G
 A
A
 1 a0001c0001t0017g0113
a0001c0001t0017g0113
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1395+219C>T
c.1395+219C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105623856
chr7:105623899 C
C
 T
T
 45 a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
others(42): Show 
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0018g0094
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0058g0018
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
 45 HG01243.hp1
HG01346.hp1
HG01891.hp1
others(42): Show 
HG01243.hp1
HG01346.hp1
HG01891.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG03491.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18989.hp2
NA18994.hp2
NA19005.hp2
NA19010.hp1
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.1395+176G>A
c.1395+176G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105623899
chr7:105624039 C
C
 T
T
 1 a0001c0001t0003g0147
a0001c0001t0003g0147
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.1395+36G>A
c.1395+36G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 8/11 chr7 105624039
chr7:105624379 C
C
 T
T
 1 a0001c0001t0005g0182
a0001c0001t0005g0182
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.1203-112G>A
c.1203-112G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624379
chr7:105624433 C
C
 T
T
 13 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(10): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0018g0058
a0001c0001t0027g0008
a0001c0001t0029g0215
 13 HG02451.hp1
HG02559.hp2
HG02572.hp2
others(10): Show 
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG03130.hp1
HG03139.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.1203-166G>A
c.1203-166G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624433
chr7:105624481 C
C
 G
G
 1 a0001c0001t0039g0180
a0001c0001t0039g0180
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1203-214G>C
c.1203-214G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624481
chr7:105624518 C
C
 A
A
 1 a0001c0001t0003g0150
a0001c0001t0003g0150
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.1203-251G>T
c.1203-251G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624518
chr7:105624598 C
C
 T
T
 21 a0001c0001t0001g0082
a0001c0001t0001g0108
a0001c0001t0006g0024
others(18): Show 
a0001c0001t0001g0082
a0001c0001t0001g0108
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0010g0091
a0001c0001t0013g0156
a0001c0001t0022g0224
a0001c0001t0024g0250
a0001c0001t0039g0180
a0001c0001t0047g0121
a0001c0001t0057g0229
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
 21 HG00673.hp2
HG00741.hp1
HG01074.hp2
others(18): Show 
HG00673.hp2
HG00741.hp1
HG01074.hp2
HG01175.hp2
HG01255.hp2
HG01261.hp1
HG01358.hp2
HG02055.hp1
HG02056.hp1
HG02148.hp1
HG02300.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp2
HG04199.hp2
 intron_variant MODIFIER c.1203-331G>A
c.1203-331G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624598
chr7:105624599 G
G
 A
A
 1 a0001c0001t0014g0083
a0001c0001t0014g0083
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1203-332C>T
c.1203-332C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624599
chr7:105624649 C
C
 CA
CA
 47 a0001c0001t0001g0082
a0001c0001t0001g0102
a0001c0001t0001g0108
others(44): Show 
a0001c0001t0001g0082
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0008g0015
a0001c0001t0010g0091
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0018g0058
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0044g0110
a0001c0001t0047g0121
a0001c0001t0057g0229
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
 47 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(44): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01255.hp2
HG01261.hp1
HG01358.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp1
HG02148.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04199.hp2
NA18522.hp1
NA18906.hp1
NA18962.hp2
NA18970.hp1
NA18989.hp1
NA19003.hp2
NA19030.hp1
NA19043.hp2
NA19085.hp2
NA19091.hp2
NA20300.hp2
 intron_variant MODIFIER c.1203-383dupT
c.1203-383dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624649
chr7:105624649 C
C
 CAA
CAA
 139 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(136): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0010g0111
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0006c0010t0031g0204
a0007c0009t0007g0096
 139 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(136): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02896.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203-384_1203-383d
others(4): Show 
c.1203-384_1203-383dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624649
chr7:105624649 C
C
 CAAA
CAAA
 10 a0001c0001t0001g0026
a0001c0001t0003g0070
a0001c0001t0003g0147
others(7): Show 
a0001c0001t0001g0026
a0001c0001t0003g0070
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0010g0095
a0001c0001t0016g0136
a0001c0001t0027g0134
a0001c0001t0040g0207
 10 HG01168.hp2
HG02559.hp1
HG03098.hp2
others(7): Show 
HG01168.hp2
HG02559.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03688.hp1
NA18906.hp2
NA19000.hp1
NA19068.hp2
NA19087.hp1
 intron_variant MODIFIER c.1203-385_1203-383d
others(5): Show 
c.1203-385_1203-383dupTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624649
chr7:105624649 C
C
 CAAAA
CAAAA
 39 a0001c0001t0001g0088
a0001c0001t0001g0201
a0001c0001t0002g0002
others(36): Show 
a0001c0001t0001g0088
a0001c0001t0001g0201
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0193
a0001c0001t0018g0094
a0001c0001t0023g0183
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
 39 HG01243.hp1
HG01346.hp1
HG01891.hp1
others(36): Show 
HG01243.hp1
HG01346.hp1
HG01891.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG02027.hp1
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02647.hp2
HG03491.hp1
HG03942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA19005.hp2
NA19054.hp1
NA19056.hp1
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.1203-386_1203-383d
others(6): Show 
c.1203-386_1203-383dupTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624649
chr7:105624649 C
C
 CAAAAA
CAAAAA
 8 a0001c0001t0002g0056
a0001c0001t0002g0187
a0001c0001t0009g0020
others(5): Show 
a0001c0001t0002g0056
a0001c0001t0002g0187
a0001c0001t0009g0020
a0001c0001t0015g0019
a0001c0001t0023g0247
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0058g0018
 8 HG01981.hp1
HG02083.hp2
HG02135.hp1
others(5): Show 
HG01981.hp1
HG02083.hp2
HG02135.hp1
HG03831.hp1
HG03942.hp1
NA18994.hp2
NA19010.hp1
NA19066.hp2
 intron_variant MODIFIER c.1203-387_1203-383d
others(7): Show 
c.1203-387_1203-383dupTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624649
chr7:105624687 G
G
 A
A
 244 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(241): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 244 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(241): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203-420C>T
c.1203-420C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624687
chr7:105624771 C
C
 T
T
 1 a0001c0001t0011g0143
a0001c0001t0011g0143
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.1203-504G>A
c.1203-504G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624771
chr7:105624806 T
T
 C
C
 243 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(240): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 243 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(240): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203-539A>G
c.1203-539A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624806
chr7:105624886 T
T
 C
C
 1 a0001c0001t0026g0234
a0001c0001t0026g0234
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.1203-619A>G
c.1203-619A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624886
chr7:105624905 T
T
 C
C
 30 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0001g0163
others(27): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0050
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0031g0172
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0006t0001g0112
a0007c0009t0007g0096
 30 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(27): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp2
HG01433.hp1
HG01516.hp1
HG01884.hp1
HG02129.hp2
HG02165.hp1
HG02523.hp2
HG02630.hp2
HG02818.hp1
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG04199.hp1
NA18522.hp2
NA18994.hp1
NA19000.hp1
NA19003.hp1
NA19060.hp2
NA19068.hp1
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.1203-638A>G
c.1203-638A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624905
chr7:105624969 A
A
 G
G
 13 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(10): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0018g0058
a0001c0001t0027g0008
a0001c0001t0029g0215
 13 HG02451.hp1
HG02559.hp2
HG02572.hp2
others(10): Show 
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG03130.hp1
HG03139.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.1203-702T>C
c.1203-702T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105624969
chr7:105625124 G
G
 GA
GA
 4 a0001c0001t0005g0206
a0001c0001t0041g0196
a0001c0001t0056g0210
others(1): Show 
a0001c0001t0005g0206
a0001c0001t0041g0196
a0001c0001t0056g0210
a0006c0010t0031g0204
 4 HG02055.hp2
HG03225.hp2
HG03579.hp2
others(1): Show 
HG02055.hp2
HG03225.hp2
HG03579.hp2
NA19030.hp2
 intron_variant MODIFIER c.1203-858dupT
c.1203-858dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105625124
chr7:105625270 C
C
 T
T
 2 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0080
a0001c0001t0001g0081
 2 HG01516.hp2
HG01517.hp1
HG01516.hp2
HG01517.hp1
 intron_variant MODIFIER c.1203-1003G>A
c.1203-1003G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105625270
chr7:105625395 C
C
 T
T
 28 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0001g0163
others(25): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0050
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0031g0172
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0006t0001g0112
a0007c0009t0007g0096
 28 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(25): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp2
HG01433.hp1
HG01516.hp1
HG01884.hp1
HG02129.hp2
HG02165.hp1
HG02523.hp2
HG02630.hp2
HG02818.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
HG04199.hp1
NA18522.hp2
NA18994.hp1
NA19000.hp1
NA19003.hp1
NA19060.hp2
NA19068.hp1
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.1203-1128G>A
c.1203-1128G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105625395
chr7:105625569 A
A
 G
G
 1 a0001c0001t0017g0195
a0001c0001t0017g0195
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1203-1302T>C
c.1203-1302T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105625569
chr7:105625676 C
C
 A
A
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1203-1409G>T
c.1203-1409G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105625676
chr7:105625784 C
C
 T
T
 17 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
others(14): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0198
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0031g0172
a0001c0001t0048g0132
a0001c0006t0001g0112
 17 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(14): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp2
HG01175.hp1
HG01257.hp2
HG01433.hp1
HG02165.hp1
HG02523.hp2
HG03239.hp1
HG03491.hp2
HG04199.hp1
NA18994.hp1
NA19000.hp1
NA19060.hp2
NA19086.hp1
 intron_variant MODIFIER c.1203-1517G>A
c.1203-1517G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105625784
chr7:105625800 C
C
 T
T
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1203-1533G>A
c.1203-1533G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105625800
chr7:105625816 T
T
 A
A
 11 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0008g0015
others(8): Show 
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0008g0015
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 11 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(8): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp2
NA18962.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
NA19091.hp2
 intron_variant MODIFIER c.1203-1549A>T
c.1203-1549A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105625816
chr7:105626297 A
A
 G
G
 243 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(240): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 243 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(240): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203-2030T>C
c.1203-2030T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105626297
chr7:105626344 C
C
 A
A
 2 a0001c0001t0001g0082
a0001c0001t0006g0067
a0001c0001t0001g0082
a0001c0001t0006g0067
 2 HG01175.hp2
HG02300.hp2
HG01175.hp2
HG02300.hp2
 intron_variant MODIFIER c.1203-2077G>T
c.1203-2077G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105626344
chr7:105626360 C
C
 T
T
 47 a0001c0001t0001g0088
a0001c0001t0001g0201
a0001c0001t0002g0002
others(44): Show 
a0001c0001t0001g0088
a0001c0001t0001g0201
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0018g0094
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0058g0018
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
 47 HG01243.hp1
HG01346.hp1
HG01891.hp1
others(44): Show 
HG01243.hp1
HG01346.hp1
HG01891.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp1
HG02027.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02647.hp2
HG03491.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18994.hp2
NA19005.hp2
NA19010.hp1
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.1203-2093G>A
c.1203-2093G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105626360
chr7:105626361 G
G
 T
T
 1 a0001c0001t0002g0177
a0001c0001t0002g0177
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.1203-2094C>A
c.1203-2094C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105626361
chr7:105626377 G
G
 C
C
 95 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(92): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0012t0003g0047
 95 HG00558.hp1
HG00673.hp1
HG00735.hp2
others(92): Show 
HG00558.hp1
HG00673.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02896.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19043.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19087.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.1203-2110C>G
c.1203-2110C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105626377
chr7:105626412 C
C
 G
G
 1 a0001c0008t0014g0165
a0001c0008t0014g0165
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.1203-2145G>C
c.1203-2145G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105626412
chr7:105626429 A
A
 T
T
 3 a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0174
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0174
 3 HG02083.hp1
NA18747.hp2
NA18957.hp2
HG02083.hp1
NA18747.hp2
NA18957.hp2
 intron_variant MODIFIER c.1203-2162T>A
c.1203-2162T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105626429
chr7:105626508 C
C
 A
A
 1 a0001c0001t0014g0237
a0001c0001t0014g0237
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.1203-2241G>T
c.1203-2241G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105626508
chr7:105626586 C
C
 T
T
 1 a0001c0001t0050g0155
a0001c0001t0050g0155
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.1203-2319G>A
c.1203-2319G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105626586
chr7:105626608 C
C
 T
T
 12 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
others(9): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0031g0172
a0001c0001t0048g0132
a0001c0006t0001g0112
 12 HG00323.hp2
HG00642.hp2
HG00738.hp2
others(9): Show 
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01257.hp2
HG02165.hp1
HG02523.hp2
HG03239.hp1
HG03491.hp2
NA18994.hp1
NA19000.hp1
NA19060.hp2
NA19086.hp1
 intron_variant MODIFIER c.1203-2341G>A
c.1203-2341G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105626608
chr7:105626621 G
G
 C
C
 6 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0017g0194
others(3): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0034g0068
a0001c0001t0052g0133
 6 HG01074.hp1
HG02280.hp2
HG02451.hp2
others(3): Show 
HG01074.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02630.hp1
HG03516.hp2
 intron_variant MODIFIER c.1203-2354C>G
c.1203-2354C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105626621
chr7:105626713 C
C
 T
T
 1 a0001c0001t0026g0234
a0001c0001t0026g0234
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.1203-2446G>A
c.1203-2446G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105626713
chr7:105626758 T
T
 TA
TA
 15 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(12): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0018g0058
a0001c0001t0027g0008
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0045g0190
 15 HG01891.hp2
HG02451.hp1
HG02559.hp2
others(12): Show 
HG01891.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG03130.hp1
HG03139.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.1203-2492dupT
c.1203-2492dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105626758
chr7:105626977 G
G
 A
A
 14 a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0003g0076
others(11): Show 
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0008g0015
a0001c0001t0009g0055
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 14 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(11): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp2
NA18962.hp2
NA18970.hp1
NA19003.hp2
NA19066.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.1203-2710C>T
c.1203-2710C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105626977
chr7:105627266 G
G
 C
C
 23 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0001g0181
others(20): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0239
a0001c0001t0003g0050
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0031g0172
a0001c0001t0048g0132
a0001c0006t0001g0112
a0007c0009t0007g0096
 23 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(20): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01255.hp1
HG01257.hp2
HG01433.hp1
HG01516.hp1
HG02165.hp1
HG02523.hp2
HG02630.hp2
HG02818.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
NA18522.hp2
NA18994.hp1
NA19000.hp1
NA19003.hp1
NA19060.hp2
NA19068.hp1
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.1203-2999C>G
c.1203-2999C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627266
chr7:105627398 C
C
 T
T
 17 a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0245
others(14): Show 
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0245
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0008g0015
a0001c0001t0009g0055
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0060
 17 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(14): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG01175.hp1
HG02015.hp2
HG04199.hp1
NA18962.hp2
NA18970.hp1
NA19003.hp2
NA19066.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.1203-3131G>A
c.1203-3131G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627398
chr7:105627409 A
A
 T
T
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1203-3142T>A
c.1203-3142T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627409
chr7:105627467 C
C
 T
T
 14 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
others(11): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0002g0239
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0031g0172
a0001c0001t0048g0132
a0001c0006t0001g0112
 14 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(11): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01257.hp2
HG01433.hp1
HG02165.hp1
HG02523.hp2
HG03239.hp1
HG03491.hp2
NA18994.hp1
NA19000.hp1
NA19060.hp2
NA19086.hp1
 intron_variant MODIFIER c.1203-3200G>A
c.1203-3200G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627467
chr7:105627535 C
C
 CT
CT
 86 a0001c0001t0001g0005
a0001c0001t0001g0044
a0001c0001t0001g0059
others(83): Show 
a0001c0001t0001g0005
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0013g0156
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0006t0001g0112
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 86 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(83): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01516.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp1
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02572.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp2
NA18522.hp2
NA18943.hp1
NA18945.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19068.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA19091.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203-3269dupA
c.1203-3269dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627535
chr7:105627535 C
C
 CTT
CTT
 35 a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0177
others(32): Show 
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0245
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0008g0015
a0001c0001t0009g0055
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0060
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0018g0058
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0051g0035
a0001c0001t0055g0252
 35 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(32): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG01175.hp1
HG01243.hp1
HG01346.hp2
HG01884.hp1
HG02015.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03540.hp1
HG03579.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18948.hp1
NA18962.hp2
NA18970.hp1
NA19003.hp2
NA19030.hp1
NA19043.hp2
NA19066.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19091.hp2
NA20300.hp2
 intron_variant MODIFIER c.1203-3270_1203-326
others(6): Show 
c.1203-3270_1203-3269dupAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627535
chr7:105627535 C
C
 T
T
 1 a0001c0001t0009g0141
a0001c0001t0009g0141
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.1203-3268G>A
c.1203-3268G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627535
chr7:105627579 T
T
 C
C
 129 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(126): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0008t0014g0165
a0001c0012t0003g0047
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
 129 HG00280.hp1
HG00558.hp1
HG00673.hp1
others(126): Show 
HG00280.hp1
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02896.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19054.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1203-3312A>G
c.1203-3312A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627579
chr7:105627832 C
C
 T
T
 1 a0001c0001t0004g0246
a0001c0001t0004g0246
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.1203-3565G>A
c.1203-3565G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627832
chr7:105627841 G
G
 GT
GT
 198 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(195): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
 198 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(195): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203-3575dupA
c.1203-3575dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627841
chr7:105627841 G
G
 GTT
GTT
 21 a0001c0001t0001g0102
a0001c0001t0002g0049
a0001c0001t0004g0135
others(18): Show 
a0001c0001t0001g0102
a0001c0001t0002g0049
a0001c0001t0004g0135
a0001c0001t0005g0025
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0008g0045
a0001c0001t0009g0054
a0001c0001t0014g0166
a0001c0001t0017g0195
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0042g0161
a0001c0001t0052g0133
a0001c0001t0057g0229
a0001c0001t0062g0007
a0005c0011t0008g0092
a0006c0010t0031g0204
 21 HG00741.hp2
HG01109.hp1
HG01109.hp2
others(18): Show 
HG00741.hp2
HG01109.hp1
HG01109.hp2
HG01255.hp2
HG01981.hp2
HG02056.hp1
HG02056.hp2
HG02148.hp1
HG02738.hp1
HG02738.hp2
HG03209.hp1
HG03516.hp2
HG03579.hp2
NA18989.hp1
NA18995.hp1
NA19000.hp2
NA19010.hp1
NA19067.hp1
NA19079.hp1
NA19079.hp2
NA20300.hp2
 intron_variant MODIFIER c.1203-3576_1203-357
others(6): Show 
c.1203-3576_1203-3575dupAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627841
chr7:105627870 A
A
 T
T
 32 a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0002
others(29): Show 
a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0005g0126
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0023g0247
a0001c0001t0042g0161
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0007t0038g0158
 32 HG01243.hp1
HG01346.hp1
HG01346.hp2
others(29): Show 
HG01243.hp1
HG01346.hp1
HG01346.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02071.hp1
HG02129.hp1
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02647.hp2
HG03491.hp1
HG03831.hp1
HG03942.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18989.hp2
NA18994.hp2
NA19005.hp2
NA19010.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19088.hp2
NA19091.hp1
 intron_variant MODIFIER c.1203-3603T>A
c.1203-3603T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627870
chr7:105627926 C
C
 T
T
 1 a0001c0001t0039g0180
a0001c0001t0039g0180
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1203-3659G>A
c.1203-3659G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627926
chr7:105627962 A
A
 G
G
 1 a0001c0001t0013g0251
a0001c0001t0013g0251
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.1203-3695T>C
c.1203-3695T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627962
chr7:105627994 G
G
 A
A
 24 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0001g0181
others(21): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0239
a0001c0001t0003g0050
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0031g0172
a0001c0001t0041g0196
a0001c0001t0048g0132
a0001c0006t0001g0112
a0007c0009t0007g0096
 24 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(21): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01255.hp1
HG01257.hp2
HG01433.hp1
HG01516.hp1
HG02165.hp1
HG02523.hp2
HG02630.hp2
HG02818.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp2
NA18522.hp2
NA18994.hp1
NA19000.hp1
NA19003.hp1
NA19030.hp2
NA19060.hp2
NA19068.hp1
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.1203-3727C>T
c.1203-3727C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105627994
chr7:105628006 G
G
 A
A
 14 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
others(11): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0002g0239
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0031g0172
a0001c0001t0048g0132
a0001c0006t0001g0112
 14 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(11): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01257.hp2
HG01433.hp1
HG02165.hp1
HG02523.hp2
HG03239.hp1
HG03491.hp2
NA18994.hp1
NA19000.hp1
NA19060.hp2
NA19086.hp1
 intron_variant MODIFIER c.1203-3739C>T
c.1203-3739C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628006
chr7:105628094 C
C
 T
T
 2 a0001c0001t0024g0250
a0001c0001t0031g0172
a0001c0001t0024g0250
a0001c0001t0031g0172
 2 HG01257.hp2
HG02056.hp1
HG01257.hp2
HG02056.hp1
 intron_variant MODIFIER c.1203-3827G>A
c.1203-3827G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628094
chr7:105628154 T
T
 C
C
 128 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(125): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0008t0014g0165
a0001c0012t0003g0047
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
 128 HG00280.hp1
HG00558.hp1
HG00673.hp1
others(125): Show 
HG00280.hp1
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02896.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19054.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1203-3887A>G
c.1203-3887A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628154
chr7:105628395 C
C
 G
G
 2 a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0001t0005g0206
a0001c0001t0056g0210
 2 HG02055.hp2
HG03225.hp2
HG02055.hp2
HG03225.hp2
 intron_variant MODIFIER c.1203-4128G>C
c.1203-4128G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628395
chr7:105628617 G
G
 A
A
 1 a0001c0001t0017g0195
a0001c0001t0017g0195
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1203-4350C>T
c.1203-4350C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628617
chr7:105628736 T
T
 C
C
 2 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0205
a0001c0001t0001g0222
 2 HG02280.hp2
HG02451.hp2
HG02280.hp2
HG02451.hp2
 intron_variant MODIFIER c.1203-4469A>G
c.1203-4469A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628736
chr7:105628767 G
G
 A
A
 31 a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0002
others(28): Show 
a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0005g0126
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0023g0247
a0001c0001t0042g0161
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0007t0038g0158
 31 HG01243.hp1
HG01346.hp1
HG01346.hp2
others(28): Show 
HG01243.hp1
HG01346.hp1
HG01346.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02071.hp1
HG02129.hp1
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02647.hp2
HG03491.hp1
HG03831.hp1
HG03942.hp1
NA18943.hp1
NA18945.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18989.hp2
NA18994.hp2
NA19005.hp2
NA19010.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19088.hp2
NA19091.hp1
 intron_variant MODIFIER c.1203-4500C>T
c.1203-4500C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628767
chr7:105628792 C
C
 CAAAT
CAAAT
 13 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0074
others(10): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0002g0153
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0013g0243
a0001c0001t0051g0035
a0001c0001t0058g0018
 13 HG01346.hp2
HG01515.hp1
HG03239.hp2
others(10): Show 
HG01346.hp2
HG01515.hp1
HG03239.hp2
HG03688.hp2
HG03831.hp1
NA18747.hp2
NA18943.hp1
NA18954.hp1
NA18957.hp2
NA18995.hp1
NA19010.hp2
NA19056.hp1
NA19087.hp2
 intron_variant MODIFIER c.1203-4529_1203-452
others(8): Show 
c.1203-4529_1203-4526dupATTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628792
chr7:105628792 CAAAT
CAAAT
 C
C
 65 a0001c0001t0001g0119
a0001c0001t0001g0185
a0001c0001t0001g0214
others(62): Show 
a0001c0001t0001g0119
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0160
a0001c0001t0002g0231
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0159
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0010g0091
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0023g0183
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0033g0040
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0061g0036
a0003c0003t0005g0079
a0003c0003t0020g0199
 65 HG00558.hp1
HG00673.hp2
HG00741.hp2
others(62): Show 
HG00558.hp1
HG00673.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02027.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02155.hp1
HG02280.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02647.hp1
HG02738.hp1
HG02965.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03831.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp2
NA18950.hp1
NA18962.hp1
NA18995.hp2
NA19005.hp1
NA19009.hp2
NA19030.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.1203-4529_1203-452
others(8): Show 
c.1203-4529_1203-4526delATTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628792
chr7:105628792 CAAATAAA
others(1): Show 
CAAATAAAT
 C
C
 37 a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0001g0225
others(34): Show 
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0001g0225
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0245
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0008g0015
a0001c0001t0009g0055
a0001c0001t0010g0051
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0083
a0001c0001t0015g0060
a0001c0001t0017g0195
a0001c0001t0018g0094
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0005t0007g0209
a0001c0008t0014g0165
a0007c0009t0007g0096
 37 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(34): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG01175.hp1
HG01255.hp1
HG01516.hp1
HG01891.hp1
HG01934.hp2
HG01978.hp1
HG02015.hp2
HG02148.hp2
HG02630.hp2
HG02818.hp1
HG03209.hp1
HG03471.hp1
HG03490.hp1
HG03942.hp2
HG04199.hp1
NA18522.hp2
NA18948.hp2
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA19003.hp1
NA19003.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA20300.hp1
 intron_variant MODIFIER c.1203-4533_1203-452
others(12): Show 
c.1203-4533_1203-4526delATTTATTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628792
chr7:105628792 CAAATAAA
others(5): Show 
CAAATAAATAAAT
 C
C
 36 a0001c0001t0001g0082
a0001c0001t0001g0108
a0001c0001t0004g0135
others(33): Show 
a0001c0001t0001g0082
a0001c0001t0001g0108
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0013g0156
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0018g0058
a0001c0001t0022g0224
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0001t0047g0121
a0001c0001t0055g0252
a0001c0001t0057g0229
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
 36 HG00741.hp1
HG01074.hp2
HG01175.hp2
others(33): Show 
HG00741.hp1
HG01074.hp2
HG01175.hp2
HG01255.hp2
HG01261.hp1
HG01358.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02148.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04199.hp2
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203-4537_1203-452
others(16): Show 
c.1203-4537_1203-4526delATTTATTTATTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628792
chr7:105628792 CAAATAAA
others(9): Show 
CAAATAAATAAATAAAT
 C
C
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1203-4541_1203-452
others(20): Show 
c.1203-4541_1203-4526delATTTATTTATTTATTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628792
chr7:105628792 CAAATAAA
others(13): Show 
CAAATAAATAAATAAATAAAT
 C
C
 18 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0059
others(15): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0163
a0001c0001t0002g0016
a0001c0001t0002g0239
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0012g0244
a0001c0001t0014g0237
a0001c0001t0031g0172
a0001c0001t0048g0132
a0001c0006t0001g0112
a0004c0013t0036g0107
 18 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(15): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01243.hp2
HG01257.hp2
HG01433.hp1
HG02129.hp2
HG02165.hp1
HG02523.hp2
HG03239.hp1
HG03491.hp2
HG03688.hp1
NA18994.hp1
NA19000.hp1
NA19060.hp2
NA19086.hp1
 intron_variant MODIFIER c.1203-4545_1203-452
others(24): Show 
c.1203-4545_1203-4526delATTTATTTATTTATTTATTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628792
chr7:105628910 G
G
 A
A
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1203-4643C>T
c.1203-4643C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628910
chr7:105628950 TTC
TTC
 T
T
 244 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(241): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 244 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(241): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203-4685_1203-468
others(6): Show 
c.1203-4685_1203-4684delGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628950
chr7:105628997 C
C
 T
T
 5 a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
others(2): Show 
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0059g0200
 5 HG02723.hp2
HG02896.hp2
HG03041.hp1
others(2): Show 
HG02723.hp2
HG02896.hp2
HG03041.hp1
HG03225.hp1
HG03471.hp2
 intron_variant MODIFIER c.1203-4730G>A
c.1203-4730G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105628997
chr7:105629237 T
T
 A
A
 3 a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0021g0184
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0021g0184
 3 HG02965.hp2
HG03516.hp1
NA19240.hp1
HG02965.hp2
HG03516.hp1
NA19240.hp1
 intron_variant MODIFIER c.1203-4970A>T
c.1203-4970A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105629237
chr7:105629673 G
G
 A
A
 2 a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0028g0114
a0001c0001t0045g0190
 2 HG01891.hp2
NA19043.hp1
HG01891.hp2
NA19043.hp1
 intron_variant MODIFIER c.1203-5406C>T
c.1203-5406C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105629673
chr7:105629805 T
T
 C
C
 244 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(241): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 244 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(241): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203-5538A>G
c.1203-5538A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105629805
chr7:105629930 G
G
 A
A
 1 a0001c0001t0035g0151
a0001c0001t0035g0151
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203-5663C>T
c.1203-5663C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105629930
chr7:105629971 C
C
 G
G
 1 a0001c0001t0011g0099
a0001c0001t0011g0099
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.1203-5704G>C
c.1203-5704G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105629971
chr7:105630358 C
C
 T
T
 2 a0001c0001t0002g0042
a0001c0001t0010g0111
a0001c0001t0002g0042
a0001c0001t0010g0111
 2 HG00738.hp2
NA18989.hp2
HG00738.hp2
NA18989.hp2
 intron_variant MODIFIER c.1203-6091G>A
c.1203-6091G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105630358
chr7:105630408 C
C
 A
A
 1 a0001c0001t0011g0164
a0001c0001t0011g0164
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.1203-6141G>T
c.1203-6141G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105630408
chr7:105630413 A
A
 G
G
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1203-6146T>C
c.1203-6146T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105630413
chr7:105630461 A
A
 T
T
 1 a0001c0001t0001g0088
a0001c0001t0001g0088
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.1203-6194T>A
c.1203-6194T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105630461
chr7:105630719 AAAAT
AAAAT
 A
A
 188 a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0059
others(185): Show 
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 188 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(185): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203-6456_1203-645
others(8): Show 
c.1203-6456_1203-6453delATTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105630719
chr7:105630890 T
T
 C
C
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 NA19056.hp2
NA19056.hp2
 intron_variant MODIFIER c.1203-6623A>G
c.1203-6623A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105630890
chr7:105630893 G
G
 GAAAAAC
GAAAAAC
 17 a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0245
others(14): Show 
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0245
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0008g0015
a0001c0001t0009g0055
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0060
 17 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(14): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG01175.hp1
HG02015.hp2
HG04199.hp1
NA18962.hp2
NA18970.hp1
NA19003.hp2
NA19066.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.1203-6632_1203-662
others(10): Show 
c.1203-6632_1203-6627dupGTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105630893
chr7:105630938 T
T
 C
C
 244 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(241): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 244 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(241): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203-6671A>G
c.1203-6671A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105630938
chr7:105631009 T
T
 C
C
 1 a0001c0001t0017g0195
a0001c0001t0017g0195
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1203-6742A>G
c.1203-6742A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105631009
chr7:105631221 T
T
 A
A
 56 a0001c0001t0001g0044
a0001c0001t0001g0108
a0001c0001t0001g0201
others(53): Show 
a0001c0001t0001g0044
a0001c0001t0001g0108
a0001c0001t0001g0201
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0238
a0001c0001t0004g0198
a0001c0001t0005g0126
a0001c0001t0006g0168
a0001c0001t0008g0015
a0001c0001t0009g0055
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0060
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0006c0010t0031g0204
 56 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(53): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp1
HG01243.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02155.hp2
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03491.hp1
HG03540.hp2
HG03579.hp2
HG03831.hp1
HG04199.hp1
NA18945.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp2
NA18970.hp1
NA18989.hp2
NA19003.hp2
NA19010.hp1
NA19056.hp1
NA19056.hp2
NA19066.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19091.hp1
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1203-6954A>T
c.1203-6954A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105631221
chr7:105631667 A
A
 G
G
 12 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(9): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0018g0058
a0001c0001t0029g0215
 12 HG02451.hp1
HG02559.hp2
HG02572.hp2
others(9): Show 
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG03130.hp1
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.1202+6686T>C
c.1202+6686T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105631667
chr7:105631682 G
G
 A
A
 12 a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0004g0124
others(9): Show 
a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0004g0124
a0001c0001t0005g0206
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0016g0136
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0048g0132
a0001c0006t0001g0112
 12 HG00323.hp2
HG00642.hp2
HG00738.hp2
others(9): Show 
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01257.hp2
HG02055.hp2
HG02165.hp1
HG02523.hp2
HG03098.hp2
HG03239.hp1
HG03491.hp2
NA18906.hp2
NA19000.hp1
 intron_variant MODIFIER c.1202+6671C>T
c.1202+6671C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105631682
chr7:105631690 T
T
 C
C
 1 a0002c0002t0033g0221
a0002c0002t0033g0221
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1202+6663A>G
c.1202+6663A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105631690
chr7:105631839 C
C
 A
A
 20 a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0013g0156
others(17): Show 
a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0022g0224
a0001c0001t0024g0250
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0047g0121
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0006c0010t0031g0204
 20 HG00741.hp1
HG01074.hp2
HG01243.hp1
others(17): Show 
HG00741.hp1
HG01074.hp2
HG01243.hp1
HG01261.hp1
HG01358.hp2
HG02055.hp1
HG02056.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
HG03579.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1202+6514G>T
c.1202+6514G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105631839
chr7:105631859 C
C
 T
T
 5 a0001c0001t0003g0070
a0001c0001t0007g0144
a0001c0001t0008g0075
others(2): Show 
a0001c0001t0003g0070
a0001c0001t0007g0144
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0027g0134
 5 HG02559.hp1
HG02647.hp1
HG03130.hp2
others(2): Show 
HG02559.hp1
HG02647.hp1
HG03130.hp2
HG03139.hp1
NA20129.hp2
 intron_variant MODIFIER c.1202+6494G>A
c.1202+6494G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105631859
chr7:105631860 G
G
 A
A
 43 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
others(40): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0004g0039
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0015g0109
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0034g0068
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0012t0003g0047
 43 HG00673.hp1
HG00735.hp2
HG01074.hp1
others(40): Show 
HG00673.hp1
HG00735.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp2
HG01256.hp1
HG01978.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02630.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02896.hp1
HG03239.hp2
HG03490.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
NA18945.hp2
NA18950.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19086.hp1
NA19087.hp2
 intron_variant MODIFIER c.1202+6493C>T
c.1202+6493C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105631860
chr7:105632153 T
T
 A
A
 23 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0002g0049
others(20): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0245
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0008g0015
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0060
a0001c0001t0018g0046
 23 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(20): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG01175.hp1
HG02015.hp2
HG02027.hp2
HG04199.hp1
NA18943.hp2
NA18948.hp1
NA18962.hp2
NA18970.hp1
NA18989.hp1
NA19003.hp2
NA19066.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.1202+6200A>T
c.1202+6200A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105632153
chr7:105632162 T
T
 C
C
 146 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(143): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0005c0011t0008g0092
 146 HG00323.hp1
HG00558.hp1
HG00673.hp1
others(143): Show 
HG00323.hp1
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02027.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02896.hp1
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1202+6191A>G
c.1202+6191A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105632162
chr7:105632229 C
C
 T
T
 18 a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0013g0156
others(15): Show 
a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0022g0224
a0001c0001t0024g0250
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0047g0121
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 18 HG00741.hp1
HG01074.hp2
HG01243.hp1
others(15): Show 
HG00741.hp1
HG01074.hp2
HG01243.hp1
HG01261.hp1
HG01358.hp2
HG02055.hp1
HG02056.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1202+6124G>A
c.1202+6124G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105632229
chr7:105632272 T
T
 C
C
 28 a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
others(25): Show 
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0003g0050
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0010g0051
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0037g0065
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0007c0009t0007g0096
 28 HG00280.hp1
HG00741.hp2
HG01168.hp1
others(25): Show 
HG00280.hp1
HG00741.hp2
HG01168.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01943.hp1
HG02148.hp2
HG02280.hp1
HG02602.hp1
HG02630.hp2
HG02818.hp1
HG03490.hp1
HG03688.hp1
HG03942.hp2
HG06807.hp2
NA18747.hp2
NA18957.hp2
NA19003.hp1
NA19068.hp1
NA19087.hp1
 intron_variant MODIFIER c.1202+6081A>G
c.1202+6081A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105632272
chr7:105632654 G
G
 A
A
 1 a0001c0004t0010g0154
a0001c0004t0010g0154
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.1202+5699C>T
c.1202+5699C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105632654
chr7:105632698 T
T
 C
C
 2 a0001c0001t0017g0195
a0006c0010t0031g0204
a0001c0001t0017g0195
a0006c0010t0031g0204
 2 HG03209.hp1
HG03579.hp2
HG03209.hp1
HG03579.hp2
 intron_variant MODIFIER c.1202+5655A>G
c.1202+5655A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105632698
chr7:105632751 C
C
 T
T
 12 a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0004g0124
others(9): Show 
a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0004g0124
a0001c0001t0005g0206
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0016g0136
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0048g0132
a0001c0006t0001g0112
 12 HG00323.hp2
HG00642.hp2
HG00738.hp2
others(9): Show 
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01257.hp2
HG02055.hp2
HG02165.hp1
HG02523.hp2
HG03098.hp2
HG03239.hp1
HG03491.hp2
NA18906.hp2
NA19000.hp1
 intron_variant MODIFIER c.1202+5602G>A
c.1202+5602G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105632751
chr7:105632890 C
C
 A
A
 1 a0001c0001t0044g0110
a0001c0001t0044g0110
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.1202+5463G>T
c.1202+5463G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105632890
chr7:105632890 C
C
 T
T
 1 a0001c0001t0039g0180
a0001c0001t0039g0180
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1202+5463G>A
c.1202+5463G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105632890
chr7:105632921 T
T
 TA
TA
 137 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(134): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 137 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(134): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1202+5431dupT
c.1202+5431dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105632921
chr7:105632921 T
T
 TAA
TAA
 16 a0001c0001t0001g0108
a0001c0001t0005g0025
a0001c0001t0006g0001
others(13): Show 
a0001c0001t0001g0108
a0001c0001t0005g0025
a0001c0001t0006g0001
a0001c0001t0008g0073
a0001c0001t0009g0020
a0001c0001t0010g0051
a0001c0001t0013g0243
a0001c0001t0021g0130
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0053g0031
a0001c0001t0061g0036
a0002c0002t0022g0220
a0006c0010t0031g0204
 16 HG01081.hp2
HG01099.hp2
HG01109.hp1
others(13): Show 
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01261.hp1
HG01515.hp1
HG01884.hp2
HG01981.hp1
HG02056.hp2
HG02148.hp2
HG02723.hp2
HG03098.hp1
HG03579.hp2
HG03942.hp2
NA19067.hp1
NA19240.hp2
 intron_variant MODIFIER c.1202+5430_1202+543
others(6): Show 
c.1202+5430_1202+5431dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105632921
chr7:105632921 TA
TA
 T
T
 32 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0002g0049
others(29): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0238
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0006g0117
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0060
a0001c0001t0016g0069
a0001c0001t0018g0046
a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0007t0038g0158
 32 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(29): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG01175.hp1
HG01891.hp2
HG01943.hp2
HG02027.hp2
HG02451.hp1
HG02523.hp2
HG02723.hp1
HG02965.hp2
HG03130.hp1
HG03225.hp2
HG03491.hp1
HG04199.hp1
NA18943.hp2
NA18948.hp1
NA18957.hp1
NA18962.hp2
NA18970.hp1
NA18989.hp1
NA19003.hp2
NA19043.hp1
NA19066.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.1202+5431delT
c.1202+5431delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105632921
chr7:105632922 A
A
 T
T
 1 a0001c0001t0017g0113
a0001c0001t0017g0113
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1202+5431T>A
c.1202+5431T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105632922
chr7:105632976 T
T
 G
G
 3 a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0009g0055
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0009g0055
 3 NA19066.hp2
NA19079.hp2
NA19086.hp2
NA19066.hp2
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.1202+5377A>C
c.1202+5377A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105632976
chr7:105633011 C
C
 T
T
 174 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(171): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0228
a0001c0001t0011g0101
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
 174 HG00323.hp1
HG00558.hp1
HG00673.hp1
others(171): Show 
HG00323.hp1
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1202+5342G>A
c.1202+5342G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633011
chr7:105633067 T
T
 A
A
 1 a0001c0001t0004g0246
a0001c0001t0004g0246
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.1202+5286A>T
c.1202+5286A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633067
chr7:105633209 C
C
 T
T
 2 a0001c0001t0001g0085
a0001c0001t0011g0101
a0001c0001t0001g0085
a0001c0001t0011g0101
 2 NA18945.hp2
NA18950.hp2
NA18945.hp2
NA18950.hp2
 intron_variant MODIFIER c.1202+5144G>A
c.1202+5144G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633209
chr7:105633218 A
A
 C
C
 244 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(241): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 244 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(241): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1202+5135T>G
c.1202+5135T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633218
chr7:105633273 A
A
 C
C
 25 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
others(22): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0003g0171
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0041g0196
a0001c0001t0061g0036
a0001c0005t0007g0209
a0001c0008t0014g0165
 25 HG01099.hp2
HG01346.hp1
HG01516.hp2
others(22): Show 
HG01099.hp2
HG01346.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01934.hp2
HG01952.hp2
HG01981.hp1
HG02071.hp2
HG02129.hp1
HG02165.hp2
HG02300.hp1
HG03942.hp1
NA18522.hp2
NA18948.hp2
NA18962.hp1
NA18970.hp2
NA18994.hp2
NA19005.hp2
NA19030.hp2
NA19054.hp1
NA19067.hp1
NA19088.hp1
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.1202+5080T>G
c.1202+5080T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633273
chr7:105633338 A
A
 G
G
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1202+5015T>C
c.1202+5015T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633338
chr7:105633426 T
T
 A
A
 1 a0001c0001t0004g0246
a0001c0001t0004g0246
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.1202+4927A>T
c.1202+4927A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633426
chr7:105633508 A
A
 C
C
 170 a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
others(167): Show 
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 170 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(167): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1202+4845T>G
c.1202+4845T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633508
chr7:105633508 A
A
 T
T
 1 a0001c0001t0001g0201
a0001c0001t0001g0201
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1202+4845T>A
c.1202+4845T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633508
chr7:105633536 G
G
 A
A
 7 a0001c0001t0001g0085
a0001c0001t0001g0174
a0001c0001t0003g0004
others(4): Show 
a0001c0001t0001g0085
a0001c0001t0001g0174
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0011g0101
a0001c0001t0062g0007
 7 HG02083.hp1
NA18945.hp2
NA18950.hp2
others(4): Show 
HG02083.hp1
NA18945.hp2
NA18950.hp2
NA18971.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
 intron_variant MODIFIER c.1202+4817C>T
c.1202+4817C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633536
chr7:105633644 C
C
 T
T
 26 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0002g0049
others(23): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0245
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0008g0015
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0060
a0001c0001t0018g0046
a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0056g0210
 26 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(23): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG01175.hp1
HG01891.hp2
HG02015.hp2
HG02027.hp2
HG03225.hp2
HG04199.hp1
NA18943.hp2
NA18948.hp1
NA18962.hp2
NA18970.hp1
NA18989.hp1
NA19003.hp2
NA19043.hp1
NA19066.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.1202+4709G>A
c.1202+4709G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633644
chr7:105633668 C
C
 T
T
 2 a0001c0001t0022g0224
a0006c0010t0031g0204
a0001c0001t0022g0224
a0006c0010t0031g0204
 2 HG02055.hp1
HG03579.hp2
HG02055.hp1
HG03579.hp2
 intron_variant MODIFIER c.1202+4685G>A
c.1202+4685G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633668
chr7:105633688 C
C
 G
G
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.1202+4665G>C
c.1202+4665G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633688
chr7:105633708 G
G
 A
A
 1 a0001c0001t0004g0246
a0001c0001t0004g0246
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.1202+4645C>T
c.1202+4645C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633708
chr7:105633709 A
A
 G
G
 1 a0001c0001t0004g0246
a0001c0001t0004g0246
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.1202+4644T>C
c.1202+4644T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633709
chr7:105633710 G
G
 A
A
 1 a0001c0001t0004g0246
a0001c0001t0004g0246
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.1202+4643C>T
c.1202+4643C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105633710
chr7:105634021 T
T
 C
C
 2 a0001c0001t0003g0070
a0001c0001t0008g0075
a0001c0001t0003g0070
a0001c0001t0008g0075
 2 HG02559.hp1
HG03130.hp2
HG02559.hp1
HG03130.hp2
 intron_variant MODIFIER c.1202+4332A>G
c.1202+4332A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105634021
chr7:105634024 T
T
 C
C
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1202+4329A>G
c.1202+4329A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105634024
chr7:105634077 C
C
 T
T
 1 a0002c0002t0030g0208
a0002c0002t0030g0208
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.1202+4276G>A
c.1202+4276G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105634077
chr7:105634079 T
T
 A
A
 1 a0001c0001t0004g0246
a0001c0001t0004g0246
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.1202+4274A>T
c.1202+4274A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105634079
chr7:105634134 T
T
 C
C
 21 a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0053
others(18): Show 
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0003g0171
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0041g0196
a0001c0005t0007g0209
a0001c0008t0014g0165
 21 HG01346.hp1
HG01891.hp1
HG01934.hp2
others(18): Show 
HG01346.hp1
HG01891.hp1
HG01934.hp2
HG01952.hp2
HG01981.hp1
HG02071.hp2
HG02129.hp1
HG02165.hp2
HG02300.hp1
HG03942.hp1
NA18948.hp2
NA18962.hp1
NA18970.hp2
NA18994.hp2
NA19005.hp2
NA19030.hp2
NA19054.hp1
NA19067.hp1
NA19088.hp1
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.1202+4219A>G
c.1202+4219A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105634134
chr7:105634178 C
C
 T
T
 1 a0001c0001t0034g0068
a0001c0001t0034g0068
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1202+4175G>A
c.1202+4175G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105634178
chr7:105634230 C
C
 T
T
 1 a0001c0006t0001g0112
a0001c0006t0001g0112
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.1202+4123G>A
c.1202+4123G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105634230
chr7:105634300 C
C
 T
T
 1 a0001c0001t0055g0252
a0001c0001t0055g0252
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1202+4053G>A
c.1202+4053G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105634300
chr7:105634365 G
G
 A
A
 138 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(135): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0005c0011t0008g0092
 138 HG00323.hp1
HG00558.hp1
HG00673.hp1
others(135): Show 
HG00323.hp1
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02027.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02896.hp1
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1202+3988C>T
c.1202+3988C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105634365
chr7:105634455 A
A
 AT
AT
 244 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(241): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 244 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(241): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1202+3897_1202+389
others(5): Show 
c.1202+3897_1202+3898insA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105634455
chr7:105634528 C
C
 T
T
 12 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(9): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0018g0058
a0001c0001t0029g0215
 12 HG02451.hp1
HG02559.hp2
HG02572.hp2
others(9): Show 
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG03130.hp1
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.1202+3825G>A
c.1202+3825G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105634528
chr7:105634677 A
A
 G
G
 1 a0001c0001t0037g0065
a0001c0001t0037g0065
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1202+3676T>C
c.1202+3676T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105634677
chr7:105634858 T
T
 A
A
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1202+3495A>T
c.1202+3495A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105634858
chr7:105635147 G
G
 A
A
 4 a0001c0001t0003g0090
a0001c0001t0010g0091
a0001c0001t0018g0131
others(1): Show 
a0001c0001t0003g0090
a0001c0001t0010g0091
a0001c0001t0018g0131
a0001c0001t0043g0105
 4 HG00558.hp1
HG00673.hp2
HG02083.hp2
others(1): Show 
HG00558.hp1
HG00673.hp2
HG02083.hp2
NA18747.hp1
 intron_variant MODIFIER c.1202+3206C>T
c.1202+3206C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105635147
chr7:105635171 C
C
 A
A
 5 a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0024g0250
others(2): Show 
a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0024g0250
a0001c0001t0035g0151
a0001c0001t0047g0121
 5 HG00741.hp1
HG01261.hp1
HG01358.hp2
others(2): Show 
HG00741.hp1
HG01261.hp1
HG01358.hp2
HG02056.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1202+3182G>T
c.1202+3182G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105635171
chr7:105635382 A
A
 G
G
 10 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(7): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0016g0139
a0001c0001t0018g0058
a0001c0001t0029g0215
 10 HG02451.hp1
HG02559.hp2
HG02572.hp2
others(7): Show 
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.1202+2971T>C
c.1202+2971T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105635382
chr7:105635708 T
T
 C
C
 124 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(121): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0008t0014g0165
a0001c0012t0003g0047
a0005c0011t0008g0092
 124 HG00323.hp1
HG00558.hp1
HG00673.hp1
others(121): Show 
HG00323.hp1
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1202+2645A>G
c.1202+2645A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105635708
chr7:105635844 G
G
 GT
GT
 26 a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
others(23): Show 
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0008g0015
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0060
a0001c0001t0016g0176
a0001c0001t0018g0046
a0001c0001t0041g0196
a0001c0005t0007g0209
 26 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(23): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG01175.hp1
HG01192.hp2
HG01891.hp1
HG02015.hp2
HG02027.hp2
HG04199.hp1
NA18943.hp2
NA18948.hp1
NA18962.hp2
NA18970.hp1
NA19003.hp2
NA19009.hp1
NA19030.hp2
NA19066.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.1202+2508dupA
c.1202+2508dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105635844
chr7:105635844 GT
GT
 G
G
 12 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(9): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0018g0058
a0001c0001t0029g0215
 12 HG02451.hp1
HG02559.hp2
HG02572.hp2
others(9): Show 
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG03130.hp1
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.1202+2508delA
c.1202+2508delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105635844
chr7:105635903 T
T
 C
C
 5 a0001c0001t0003g0070
a0001c0001t0007g0144
a0001c0001t0008g0075
others(2): Show 
a0001c0001t0003g0070
a0001c0001t0007g0144
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0027g0134
 5 HG02559.hp1
HG02647.hp1
HG03130.hp2
others(2): Show 
HG02559.hp1
HG02647.hp1
HG03130.hp2
HG03139.hp1
NA20129.hp2
 intron_variant MODIFIER c.1202+2450A>G
c.1202+2450A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105635903
chr7:105636116 C
C
 T
T
 11 a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0022g0224
others(8): Show 
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0022g0224
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 11 HG01074.hp2
HG01243.hp1
HG02055.hp1
others(8): Show 
HG01074.hp2
HG01243.hp1
HG02055.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG03041.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.1202+2237G>A
c.1202+2237G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105636116
chr7:105636272 G
G
 A
A
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1202+2081C>T
c.1202+2081C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105636272
chr7:105636277 C
C
 T
T
 1 a0001c0001t0004g0127
a0001c0001t0004g0127
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1202+2076G>A
c.1202+2076G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105636277
chr7:105636394 C
C
 CA
CA
 53 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
others(50): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0048
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0004g0039
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0015g0109
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0012t0003g0047
 53 HG00673.hp1
HG00735.hp2
HG00741.hp1
others(50): Show 
HG00673.hp1
HG00735.hp2
HG00741.hp1
HG01074.hp1
HG01099.hp1
HG01109.hp2
HG01256.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01978.hp2
HG02027.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02630.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02896.hp1
HG03225.hp2
HG03239.hp2
HG03490.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
NA18522.hp2
NA18945.hp2
NA18950.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19086.hp1
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1202+1958dupT
c.1202+1958dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105636394
chr7:105636394 CA
CA
 C
C
 30 a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0002g0002
others(27): Show 
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0005t0007g0209
a0001c0007t0038g0158
 30 HG01109.hp1
HG01192.hp2
HG01346.hp1
others(27): Show 
HG01109.hp1
HG01192.hp2
HG01346.hp1
HG01891.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG02071.hp2
HG02129.hp1
HG02165.hp2
HG02300.hp1
HG02895.hp2
HG02965.hp1
HG03139.hp2
NA18522.hp1
NA18747.hp2
NA18954.hp2
NA18962.hp1
NA18970.hp2
NA18994.hp2
NA19005.hp2
NA19054.hp1
NA19067.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.1202+1958delT
c.1202+1958delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105636394
chr7:105636447 G
G
 GC
GC
 89 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(86): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0048
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0039
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0012t0003g0047
a0003c0003t0005g0079
a0005c0011t0008g0092
 89 HG00323.hp1
HG00558.hp1
HG00673.hp1
others(86): Show 
HG00323.hp1
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01934.hp1
HG01952.hp1
HG01978.hp2
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18945.hp2
NA18950.hp2
NA18954.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.1202+1905dupG
c.1202+1905dupG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105636447
chr7:105636456 A
A
 C
C
 2 a0003c0003t0005g0079
a0003c0003t0020g0199
a0003c0003t0005g0079
a0003c0003t0020g0199
 2 HG01358.hp1
HG06807.hp2
HG01358.hp1
HG06807.hp2
 intron_variant MODIFIER c.1202+1897T>G
c.1202+1897T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105636456
chr7:105636461 C
C
 G
G
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1202+1892G>C
c.1202+1892G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105636461
chr7:105636633 A
A
 G
G
 1 a0001c0001t0010g0228
a0001c0001t0010g0228
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1202+1720T>C
c.1202+1720T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105636633
chr7:105636668 C
C
 A
A
 1 a0001c0001t0006g0067
a0001c0001t0006g0067
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1202+1685G>T
c.1202+1685G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105636668
chr7:105636669 C
C
 G
G
 21 a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0042
others(18): Show 
a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0042
a0001c0001t0002g0153
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0005g0126
a0001c0001t0011g0170
a0001c0001t0012g0122
a0001c0001t0015g0019
a0001c0001t0018g0094
a0001c0001t0020g0169
a0001c0001t0023g0183
a0001c0001t0042g0161
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0007t0038g0158
 21 HG01257.hp1
HG01258.hp1
HG01346.hp2
others(18): Show 
HG01257.hp1
HG01258.hp1
HG01346.hp2
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02027.hp1
HG02155.hp2
HG02647.hp2
HG03831.hp1
HG03942.hp1
NA18943.hp1
NA18945.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18989.hp2
NA19010.hp1
NA19056.hp1
NA19056.hp2
NA19091.hp1
 intron_variant MODIFIER c.1202+1684G>C
c.1202+1684G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105636669
chr7:105636709 T
T
 C
C
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1202+1644A>G
c.1202+1644A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105636709
chr7:105636919 T
T
 C
C
 22 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0002g0049
others(19): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0245
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0008g0015
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0018g0046
 22 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(19): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp2
HG02027.hp2
HG04199.hp1
NA18943.hp2
NA18948.hp1
NA18962.hp2
NA18970.hp1
NA18989.hp1
NA19003.hp2
NA19066.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.1202+1434A>G
c.1202+1434A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105636919
chr7:105636928 C
C
 T
T
 1 a0001c0001t0003g0071
a0001c0001t0003g0071
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1202+1425G>A
c.1202+1425G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105636928
chr7:105637110 A
A
 T
T
 1 a0002c0002t0032g0226
a0002c0002t0032g0226
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.1202+1243T>A
c.1202+1243T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105637110
chr7:105637186 G
G
 A
A
 70 a0001c0001t0001g0009
a0001c0001t0001g0082
a0001c0001t0001g0088
others(67): Show 
a0001c0001t0001g0009
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0033g0040
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0061g0036
a0001c0005t0007g0209
a0001c0008t0014g0165
a0005c0011t0008g0092
 70 HG00323.hp1
HG00558.hp1
HG00673.hp2
others(67): Show 
HG00323.hp1
HG00558.hp1
HG00673.hp2
HG01069.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02622.hp1
HG02818.hp1
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03669.hp1
HG03831.hp2
HG04199.hp2
HG06807.hp1
NA18747.hp1
NA18948.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19005.hp2
NA19009.hp2
NA19054.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.1202+1167C>T
c.1202+1167C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105637186
chr7:105637279 C
C
 G
G
 213 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(210): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 213 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(210): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1202+1074G>C
c.1202+1074G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105637279
chr7:105637346 T
T
 C
C
 34 a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
others(31): Show 
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0010g0051
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0037g0065
a0001c0001t0062g0007
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0007c0009t0007g0096
 34 HG00280.hp1
HG00741.hp2
HG01069.hp1
others(31): Show 
HG00280.hp1
HG00741.hp2
HG01069.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01943.hp1
HG02148.hp2
HG02280.hp1
HG02602.hp1
HG02630.hp2
HG03490.hp1
HG03688.hp1
HG03831.hp2
HG03942.hp2
HG06807.hp2
NA18747.hp2
NA18957.hp2
NA18971.hp2
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19068.hp1
NA19087.hp1
 intron_variant MODIFIER c.1202+1007A>G
c.1202+1007A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105637346
chr7:105637536 C
C
 T
T
 1 a0001c0001t0008g0175
a0001c0001t0008g0175
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.1202+817G>A
c.1202+817G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105637536
chr7:105637581 G
G
 A
A
 2 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0205
a0001c0001t0001g0222
 2 HG02280.hp2
HG02451.hp2
HG02280.hp2
HG02451.hp2
 intron_variant MODIFIER c.1202+772C>T
c.1202+772C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105637581
chr7:105637728 C
C
 T
T
 3 a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0013g0243
a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0013g0243
 3 HG01168.hp2
HG01169.hp1
HG01515.hp1
HG01168.hp2
HG01169.hp1
HG01515.hp1
 intron_variant MODIFIER c.1202+625G>A
c.1202+625G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105637728
chr7:105637754 C
C
 T
T
 69 a0001c0001t0001g0009
a0001c0001t0001g0082
a0001c0001t0001g0088
others(66): Show 
a0001c0001t0001g0009
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0033g0040
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0005t0007g0209
a0001c0008t0014g0165
a0005c0011t0008g0092
 69 HG00323.hp1
HG00558.hp1
HG00673.hp2
others(66): Show 
HG00323.hp1
HG00558.hp1
HG00673.hp2
HG01069.hp2
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02622.hp1
HG02818.hp1
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03669.hp1
HG03942.hp1
HG04199.hp2
HG06807.hp1
NA18747.hp1
NA18948.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19005.hp2
NA19009.hp2
NA19054.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.1202+599G>A
c.1202+599G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105637754
chr7:105637828 C
C
 T
T
 1 a0001c0001t0002g0245
a0001c0001t0002g0245
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1202+525G>A
c.1202+525G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105637828
chr7:105637869 T
T
 C
C
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1202+484A>G
c.1202+484A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105637869
chr7:105637970 T
T
 C
C
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1202+383A>G
c.1202+383A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105637970
chr7:105638336 G
G
 A
A
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1202+17C>T
c.1202+17C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 7/11 chr7 105638336
chr7:105638689 T
T
 C
C
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.946-80A>G
c.946-80A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 6/11 chr7 105638689
chr7:105639043 A
A
 G
G
 20 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0002g0049
others(17): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0245
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0008g0015
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0018g0046
 20 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(17): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp2
HG02027.hp2
HG04199.hp1
NA18943.hp2
NA18962.hp2
NA18970.hp1
NA18989.hp1
NA19003.hp2
NA19066.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.946-434T>C
c.946-434T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 6/11 chr7 105639043
chr7:105639272 G
G
 GT
GT
 20 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0002g0049
others(17): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0245
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0008g0015
a0001c0001t0009g0103
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0018g0046
a0001c0006t0001g0112
 20 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(17): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp2
HG02027.hp2
HG03491.hp2
HG04199.hp1
NA18943.hp2
NA18962.hp2
NA18970.hp1
NA18989.hp1
NA19003.hp2
NA19066.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19091.hp2
 intron_variant MODIFIER c.945+214dupA
c.945+214dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 6/11 chr7 105639272
chr7:105639272 GT
GT
 G
G
 174 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(171): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0153
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0218
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0228
a0001c0001t0011g0101
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 174 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(171): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.945+214delA
c.945+214delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 6/11 chr7 105639272
chr7:105639810 C
C
 A
A
 245 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(242): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 245 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(242): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.863-241G>T
c.863-241G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105639810
chr7:105639823 C
C
 T
T
 115 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(112): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0007g0057
a0001c0001t0007g0218
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0008t0014g0165
a0001c0012t0003g0047
a0005c0011t0008g0092
 115 HG00323.hp1
HG00558.hp1
HG00673.hp1
others(112): Show 
HG00323.hp1
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19054.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.863-254G>A
c.863-254G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105639823
chr7:105639965 GGAGAGCC
others(4): Show 
GGAGAGCCACCT
 G
G
 3 a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0056g0210
a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0056g0210
 3 HG01891.hp2
HG03225.hp2
NA19043.hp1
HG01891.hp2
HG03225.hp2
NA19043.hp1
 intron_variant MODIFIER c.863-407_863-397del
others(11): Show 
c.863-407_863-397delAGGTGGCTCTC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105639965
chr7:105640005 C
C
 T
T
 6 a0001c0001t0001g0059
a0001c0001t0010g0111
a0001c0001t0014g0237
others(3): Show 
a0001c0001t0001g0059
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0016g0136
a0001c0001t0031g0172
a0001c0001t0040g0207
 6 HG00323.hp2
HG00642.hp2
HG00738.hp2
others(3): Show 
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01257.hp2
HG03098.hp2
NA18906.hp2
 intron_variant MODIFIER c.863-436G>A
c.863-436G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105640005
chr7:105640067 T
T
 C
C
 23 a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0042
others(20): Show 
a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0153
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0005g0126
a0001c0001t0009g0141
a0001c0001t0011g0170
a0001c0001t0012g0122
a0001c0001t0018g0094
a0001c0001t0020g0169
a0001c0001t0023g0183
a0001c0001t0042g0161
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0007t0038g0158
 23 HG01257.hp1
HG01258.hp1
HG01346.hp2
others(20): Show 
HG01257.hp1
HG01258.hp1
HG01346.hp2
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02027.hp1
HG02071.hp1
HG02155.hp2
HG02647.hp2
HG03831.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18989.hp2
NA19010.hp1
NA19056.hp1
NA19056.hp2
NA19074.hp1
NA19091.hp1
 intron_variant MODIFIER c.863-498A>G
c.863-498A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105640067
chr7:105640127 C
C
 T
T
 1 a0001c0001t0005g0025
a0001c0001t0005g0025
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.863-558G>A
c.863-558G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105640127
chr7:105640279 G
G
 T
T
 2 a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0030g0208
a0002c0002t0030g0212
 2 HG02896.hp2
HG03471.hp2
HG02896.hp2
HG03471.hp2
 intron_variant MODIFIER c.863-710C>A
c.863-710C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105640279
chr7:105640415 C
C
 G
G
 45 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
others(42): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0004g0039
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0007g0218
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0015g0109
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0035g0151
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0012t0003g0047
 45 HG00673.hp1
HG00735.hp2
HG01074.hp1
others(42): Show 
HG00673.hp1
HG00735.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01256.hp1
HG01516.hp2
HG01517.hp1
HG01978.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02280.hp2
HG02451.hp2
HG02602.hp2
HG02630.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02896.hp1
HG03041.hp2
HG03239.hp2
HG03490.hp2
HG03516.hp2
HG03669.hp2
HG03688.hp2
NA18522.hp2
NA18945.hp2
NA18950.hp2
NA18971.hp1
NA18994.hp1
NA18995.hp1
NA19005.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19086.hp1
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.863-846G>C
c.863-846G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105640415
chr7:105640526 A
A
 T
T
 2 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0205
a0001c0001t0001g0222
 2 HG02280.hp2
HG02451.hp2
HG02280.hp2
HG02451.hp2
 intron_variant MODIFIER c.863-957T>A
c.863-957T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105640526
chr7:105640564 C
C
 T
T
 1 a0001c0001t0021g0227
a0001c0001t0021g0227
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.863-995G>A
c.863-995G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105640564
chr7:105640741 G
G
 A
A
 18 a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0003g0070
others(15): Show 
a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0003g0070
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0005g0206
a0001c0001t0007g0144
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0016g0136
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0006t0001g0112
 18 HG00323.hp2
HG00642.hp2
HG00738.hp2
others(15): Show 
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01257.hp2
HG01884.hp1
HG02055.hp2
HG02165.hp1
HG02523.hp2
HG02559.hp1
HG02647.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp1
HG03491.hp1
HG03491.hp2
NA18906.hp2
NA20129.hp2
 intron_variant MODIFIER c.863-1172C>T
c.863-1172C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105640741
chr7:105641097 C
C
 T
T
 3 a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0052g0133
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0052g0133
 3 HG01074.hp1
HG02630.hp1
HG03516.hp2
HG01074.hp1
HG02630.hp1
HG03516.hp2
 intron_variant MODIFIER c.863-1528G>A
c.863-1528G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641097
chr7:105641212 C
C
 CTTT
CTTT
 5 a0001c0001t0004g0135
a0001c0001t0006g0117
a0001c0001t0006g0197
others(2): Show 
a0001c0001t0004g0135
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0028g0114
 5 HG02451.hp1
HG02559.hp2
HG03540.hp1
others(2): Show 
HG02451.hp1
HG02559.hp2
HG03540.hp1
NA19043.hp1
NA20300.hp2
 intron_variant MODIFIER c.862+1625_862+1626i
others(5): Show 
c.862+1625_862+1626insAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641212
chr7:105641212 C
C
 CTTTT
CTTTT
 3 a0001c0001t0004g0137
a0001c0001t0006g0116
a0001c0001t0029g0215
a0001c0001t0004g0137
a0001c0001t0006g0116
a0001c0001t0029g0215
 3 HG03579.hp1
NA19030.hp1
NA19043.hp2
HG03579.hp1
NA19030.hp1
NA19043.hp2
 intron_variant MODIFIER c.862+1625_862+1626i
others(6): Show 
c.862+1625_862+1626insAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641212
chr7:105641212 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 9 a0001c0001t0002g0016
a0001c0001t0003g0070
a0001c0001t0004g0124
others(6): Show 
a0001c0001t0002g0016
a0001c0001t0003g0070
a0001c0001t0004g0124
a0001c0001t0008g0075
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0048g0132
a0001c0006t0001g0112
a0006c0010t0031g0204
 9 HG01257.hp2
HG02165.hp1
HG02523.hp2
others(6): Show 
HG01257.hp2
HG02165.hp1
HG02523.hp2
HG02559.hp1
HG03130.hp2
HG03139.hp1
HG03239.hp1
HG03491.hp2
HG03579.hp2
 intron_variant MODIFIER c.862+1625_862+1626i
others(10): Show 
c.862+1625_862+1626insAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641212
chr7:105641212 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 3 a0001c0001t0008g0216
a0001c0001t0014g0237
a0001c0001t0040g0207
a0001c0001t0008g0216
a0001c0001t0014g0237
a0001c0001t0040g0207
 3 HG00323.hp2
HG02647.hp1
HG03098.hp2
HG00323.hp2
HG02647.hp1
HG03098.hp2
 intron_variant MODIFIER c.862+1625_862+1626i
others(12): Show 
c.862+1625_862+1626insAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641212
chr7:105641212 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.862+1625_862+1626i
others(13): Show 
c.862+1625_862+1626insAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641212
chr7:105641212 C
C
 T
T
 3 a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0047g0121
a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0047g0121
 3 HG00741.hp1
HG01261.hp1
HG01358.hp2
HG00741.hp1
HG01261.hp1
HG01358.hp2
 intron_variant MODIFIER c.862+1626G>A
c.862+1626G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641212
chr7:105641212 CTCTTTTT
others(11): Show 
CTCTTTTTTTTTTTTTTTT
 C
C
 19 a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0048
others(16): Show 
a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0048
a0001c0001t0002g0153
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0005g0126
a0001c0001t0012g0122
a0001c0001t0018g0094
a0001c0001t0020g0169
a0001c0001t0042g0161
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0007t0038g0158
a0005c0011t0008g0092
 19 HG01257.hp1
HG01258.hp1
HG01346.hp2
others(16): Show 
HG01257.hp1
HG01258.hp1
HG01346.hp2
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02071.hp1
HG02148.hp1
HG02155.hp2
HG02647.hp2
HG03831.hp1
NA18943.hp1
NA18945.hp1
NA18954.hp2
NA18957.hp1
NA19010.hp1
NA19056.hp1
NA19056.hp2
NA19091.hp1
 intron_variant MODIFIER c.862+1608_862+1625d
others(20): Show 
c.862+1608_862+1625delAAAAAAAAAAAAAAAAGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641212
chr7:105641212 CTCTTTTT
others(12): Show 
CTCTTTTTTTTTTTTTTTTT
 C
C
 5 a0001c0001t0002g0042
a0001c0001t0002g0177
a0001c0001t0009g0141
others(2): Show 
a0001c0001t0002g0042
a0001c0001t0002g0177
a0001c0001t0009g0141
a0001c0001t0011g0170
a0001c0001t0023g0183
 5 HG02027.hp1
NA18948.hp1
NA18950.hp1
others(2): Show 
HG02027.hp1
NA18948.hp1
NA18950.hp1
NA18989.hp2
NA19074.hp1
 intron_variant MODIFIER c.862+1607_862+1625d
others(21): Show 
c.862+1607_862+1625delAAAAAAAAAAAAAAAAAGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641212
chr7:105641214 C
C
 CTCTCTCT
others(4): Show 
CTCTCTCTTTTT
 1 a0001c0001t0010g0051
a0001c0001t0010g0051
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.862+1623_862+1624i
others(13): Show 
c.862+1623_862+1624insAAAAAGAGAGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641214
chr7:105641214 C
C
 CTCTTTTT
others(2): Show 
CTCTTTTTTT
 9 a0001c0001t0001g0078
a0001c0001t0003g0030
a0001c0001t0003g0150
others(6): Show 
a0001c0001t0001g0078
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0004g0023
a0001c0001t0012g0064
a0001c0001t0025g0240
a0001c0001t0026g0234
a0003c0003t0005g0079
a0004c0013t0036g0107
 9 HG00280.hp1
HG01069.hp1
HG02148.hp2
others(6): Show 
HG00280.hp1
HG01069.hp1
HG02148.hp2
HG02602.hp1
HG03490.hp1
HG06807.hp2
NA18747.hp2
NA18971.hp2
NA19087.hp1
 intron_variant MODIFIER c.862+1623_862+1624i
others(11): Show 
c.862+1623_862+1624insAAAAAAAGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641214
chr7:105641214 C
C
 CTCTTTTT
others(3): Show 
CTCTTTTTTTT
 17 a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0003g0004
others(14): Show 
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0235
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0025g0104
a0001c0001t0037g0065
a0001c0001t0062g0007
a0003c0003t0020g0199
a0007c0009t0007g0096
 17 HG01175.hp1
HG01243.hp2
HG01256.hp2
others(14): Show 
HG01175.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02280.hp1
HG02630.hp2
HG03688.hp1
HG03831.hp2
NA18957.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
 intron_variant MODIFIER c.862+1623_862+1624i
others(12): Show 
c.862+1623_862+1624insAAAAAAAAGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641214
chr7:105641214 C
C
 CTCTTTTT
others(4): Show 
CTCTTTTTTTTT
 3 a0001c0001t0004g0128
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0004g0128
a0001c0001t0019g0062
a0001c0001t0020g0120
 3 HG00741.hp2
HG01192.hp1
HG01255.hp1
HG00741.hp2
HG01192.hp1
HG01255.hp1
 intron_variant MODIFIER c.862+1623_862+1624i
others(13): Show 
c.862+1623_862+1624insAAAAAAAAAGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641214
chr7:105641214 C
C
 CTTTTT
CTTTTT
 6 a0001c0001t0013g0156
a0002c0002t0022g0066
a0002c0002t0022g0220
others(3): Show 
a0001c0001t0013g0156
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
 6 HG02723.hp2
HG02818.hp2
HG02895.hp2
others(3): Show 
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.862+1619_862+1623d
others(7): Show 
c.862+1619_862+1623dupAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641214
chr7:105641214 C
C
 T
T
 38 a0001c0001t0001g0059
a0001c0001t0001g0108
a0001c0001t0002g0016
others(35): Show 
a0001c0001t0001g0059
a0001c0001t0001g0108
a0001c0001t0002g0016
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0014g0237
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0018g0058
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0006t0001g0112
a0006c0010t0031g0204
 38 HG00323.hp2
HG00642.hp2
HG00738.hp2
others(35): Show 
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02165.hp1
HG02451.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02647.hp1
HG02723.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19068.hp1
NA20300.hp2
 intron_variant MODIFIER c.862+1624G>A
c.862+1624G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641214
chr7:105641214 CT
CT
 C
C
 8 a0001c0001t0001g0005
a0001c0001t0001g0102
a0001c0001t0002g0021
others(5): Show 
a0001c0001t0001g0005
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0009g0055
a0001c0001t0011g0164
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0063g0041
 8 HG02056.hp1
HG02145.hp2
HG02738.hp2
others(5): Show 
HG02056.hp1
HG02145.hp2
HG02738.hp2
NA18989.hp1
NA18994.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp2
 intron_variant MODIFIER c.862+1623delA
c.862+1623delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641214
chr7:105641214 CTT
CTT
 C
C
 67 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0080
others(64): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0187
a0001c0001t0002g0245
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0171
a0001c0001t0004g0039
a0001c0001t0004g0198
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0007g0057
a0001c0001t0008g0015
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0109
a0001c0001t0018g0046
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0061g0036
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0012t0003g0047
 67 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(64): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01256.hp1
HG01346.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01934.hp2
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02300.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG02896.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03688.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18943.hp2
NA18945.hp2
NA18950.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA18995.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19079.hp2
NA19086.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.862+1622_862+1623d
others(4): Show 
c.862+1622_862+1623delAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641214
chr7:105641214 CTTT
CTTT
 C
C
 61 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0082
others(58): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0181
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0007g0218
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0010g0095
a0001c0001t0012g0028
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0008t0014g0165
a0002c0002t0032g0226
 61 HG00323.hp1
HG00558.hp1
HG01069.hp2
others(58): Show 
HG00323.hp1
HG00558.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01934.hp1
HG01952.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02735.hp2
HG02818.hp1
HG02965.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03516.hp2
HG03669.hp1
HG03942.hp1
HG04199.hp2
NA18747.hp1
NA18948.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18995.hp2
NA19000.hp1
NA19054.hp1
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.862+1621_862+1623d
others(5): Show 
c.862+1621_862+1623delAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641214
chr7:105641214 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 C
C
 1 a0001c0001t0003g0071
a0001c0001t0003g0071
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.862+1611_862+1623d
others(15): Show 
c.862+1611_862+1623delAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641214
chr7:105641218 T
T
 C
C
 1 a0001c0001t0011g0012
a0001c0001t0011g0012
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.862+1620A>G
c.862+1620A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641218
chr7:105641328 G
G
 GT
GT
 90 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
others(87): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0003g0086
a0001c0001t0003g0171
a0001c0001t0004g0039
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0218
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0052g0133
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0002c0002t0059g0200
a0006c0010t0031g0204
 90 HG00558.hp2
HG00642.hp1
HG00673.hp1
others(87): Show 
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00741.hp1
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01934.hp2
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02572.hp1
HG02630.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19005.hp2
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.862+1509dupA
c.862+1509dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641328
chr7:105641337 T
T
 TC
TC
 44 a0001c0001t0001g0009
a0001c0001t0001g0082
a0001c0001t0001g0181
others(41): Show 
a0001c0001t0001g0009
a0001c0001t0001g0082
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0010g0091
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0243
a0001c0001t0014g0123
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0033g0040
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0002c0002t0032g0226
 44 HG00323.hp1
HG00558.hp1
HG00673.hp2
others(41): Show 
HG00323.hp1
HG00558.hp1
HG00673.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01934.hp1
HG01952.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02300.hp2
HG02523.hp1
HG02622.hp1
HG02818.hp1
HG03471.hp1
HG03669.hp1
HG04199.hp2
NA18747.hp1
NA18954.hp1
NA18995.hp2
NA19009.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.862+1500_862+1501i
others(3): Show 
c.862+1500_862+1501insG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641337
chr7:105641403 G
G
 A
A
 2 a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0001t0005g0206
a0001c0001t0056g0210
 2 HG02055.hp2
HG03225.hp2
HG02055.hp2
HG03225.hp2
 intron_variant MODIFIER c.862+1435C>T
c.862+1435C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641403
chr7:105641512 C
C
 T
T
 1 a0001c0001t0039g0180
a0001c0001t0039g0180
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.862+1326G>A
c.862+1326G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641512
chr7:105641568 G
G
 A
A
 4 a0001c0001t0005g0206
a0001c0001t0028g0114
a0001c0001t0045g0190
others(1): Show 
a0001c0001t0005g0206
a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0056g0210
 4 HG01891.hp2
HG02055.hp2
HG03225.hp2
others(1): Show 
HG01891.hp2
HG02055.hp2
HG03225.hp2
NA19043.hp1
 intron_variant MODIFIER c.862+1270C>T
c.862+1270C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641568
chr7:105641661 A
A
 C
C
 10 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(7): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0010g0228
a0001c0001t0016g0139
a0001c0001t0018g0058
a0001c0001t0029g0215
 10 HG02451.hp1
HG02559.hp2
HG02572.hp2
others(7): Show 
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.862+1177T>G
c.862+1177T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641661
chr7:105641706 G
G
 A
A
 1 a0001c0001t0044g0110
a0001c0001t0044g0110
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.862+1132C>T
c.862+1132C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641706
chr7:105641707 C
C
 T
T
 10 a0001c0001t0001g0044
a0001c0001t0002g0042
a0001c0001t0002g0048
others(7): Show 
a0001c0001t0001g0044
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0153
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0029
a0001c0001t0009g0141
a0001c0001t0011g0170
a0001c0001t0023g0183
 10 HG02027.hp1
HG02071.hp1
NA18948.hp1
others(7): Show 
HG02027.hp1
HG02071.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18989.hp2
NA19056.hp1
NA19056.hp2
NA19074.hp1
 intron_variant MODIFIER c.862+1131G>A
c.862+1131G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641707
chr7:105641756 T
T
 G
G
 1 a0001c0001t0005g0014
a0001c0001t0005g0014
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.862+1082A>C
c.862+1082A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105641756
chr7:105642128 C
C
 T
T
 1 a0001c0001t0029g0072
a0001c0001t0029g0072
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.862+710G>A
c.862+710G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105642128
chr7:105642158 G
G
 A
A
 1 a0001c0001t0028g0037
a0001c0001t0028g0037
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.862+680C>T
c.862+680C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105642158
chr7:105642452 T
T
 C
C
 4 a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0041g0196
others(1): Show 
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0041g0196
a0001c0001t0052g0133
 4 HG01074.hp1
HG02630.hp1
HG03516.hp2
others(1): Show 
HG01074.hp1
HG02630.hp1
HG03516.hp2
NA19030.hp2
 intron_variant MODIFIER c.862+386A>G
c.862+386A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105642452
chr7:105642481 T
T
 G
G
 113 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(110): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0007g0057
a0001c0001t0007g0218
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0032g0226
 113 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(110): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.862+357A>C
c.862+357A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105642481
chr7:105642654 G
G
 A
A
 3 a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0052g0133
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0052g0133
 3 HG01074.hp1
HG02630.hp1
HG03516.hp2
HG01074.hp1
HG02630.hp1
HG03516.hp2
 intron_variant MODIFIER c.862+184C>T
c.862+184C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105642654
chr7:105642775 G
G
 A
A
 2 a0003c0003t0005g0079
a0003c0003t0020g0199
a0003c0003t0005g0079
a0003c0003t0020g0199
 2 HG01358.hp1
HG06807.hp2
HG01358.hp1
HG06807.hp2
 intron_variant MODIFIER c.862+63C>T
c.862+63C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105642775
chr7:105642823 G
G
 A
A
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.862+15C>T
c.862+15C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 5/11 chr7 105642823
chr7:105643235 C
C
 T
T
 1 a0001c0001t0055g0252
a0001c0001t0055g0252
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.579-114G>A
c.579-114G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105643235
chr7:105643309 G
G
 A
A
 4 a0001c0001t0005g0206
a0001c0001t0028g0114
a0001c0001t0045g0190
others(1): Show 
a0001c0001t0005g0206
a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0056g0210
 4 HG01891.hp2
HG02055.hp2
HG03225.hp2
others(1): Show 
HG01891.hp2
HG02055.hp2
HG03225.hp2
NA19043.hp1
 intron_variant MODIFIER c.579-188C>T
c.579-188C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105643309
chr7:105643340 T
T
 C
C
 1 a0001c0001t0002g0188
a0001c0001t0002g0188
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.579-219A>G
c.579-219A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105643340
chr7:105643395 C
C
 T
T
 125 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(122): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0218
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 125 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(122): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03540.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19054.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.579-274G>A
c.579-274G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105643395
chr7:105643455 C
C
 T
T
 1 a0001c0001t0050g0155
a0001c0001t0050g0155
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.579-334G>A
c.579-334G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105643455
chr7:105643508 C
C
 T
T
 4 a0001c0001t0005g0206
a0001c0001t0028g0114
a0001c0001t0045g0190
others(1): Show 
a0001c0001t0005g0206
a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0056g0210
 4 HG01891.hp2
HG02055.hp2
HG03225.hp2
others(1): Show 
HG01891.hp2
HG02055.hp2
HG03225.hp2
NA19043.hp1
 intron_variant MODIFIER c.579-387G>A
c.579-387G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105643508
chr7:105643531 C
C
 A
A
 24 a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0042
others(21): Show 
a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0153
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0005g0126
a0001c0001t0009g0141
a0001c0001t0011g0170
a0001c0001t0012g0122
a0001c0001t0018g0094
a0001c0001t0020g0169
a0001c0001t0023g0183
a0001c0001t0042g0161
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0007t0038g0158
a0005c0011t0008g0092
 24 HG01257.hp1
HG01258.hp1
HG01346.hp2
others(21): Show 
HG01257.hp1
HG01258.hp1
HG01346.hp2
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02027.hp1
HG02071.hp1
HG02148.hp1
HG02155.hp2
HG02647.hp2
HG03831.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18989.hp2
NA19010.hp1
NA19056.hp1
NA19056.hp2
NA19074.hp1
NA19091.hp1
 intron_variant MODIFIER c.579-410G>T
c.579-410G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105643531
chr7:105643554 C
C
 T
T
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.579-433G>A
c.579-433G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105643554
chr7:105643576 G
G
 C
C
 6 a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0010g0091
others(3): Show 
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0010g0091
a0001c0001t0014g0123
a0001c0001t0018g0131
a0001c0001t0043g0105
 6 HG00558.hp1
HG00673.hp2
HG01167.hp2
others(3): Show 
HG00558.hp1
HG00673.hp2
HG01167.hp2
HG01169.hp2
HG02083.hp2
NA18747.hp1
 intron_variant MODIFIER c.579-455C>G
c.579-455C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105643576
chr7:105643829 C
C
 T
T
 1 a0001c0001t0004g0127
a0001c0001t0004g0127
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.579-708G>A
c.579-708G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105643829
chr7:105644220 C
C
 T
T
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.579-1099G>A
c.579-1099G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105644220
chr7:105644232 T
T
 C
C
 13 a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0013g0156
others(10): Show 
a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0022g0224
a0001c0001t0047g0121
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0002c0002t0059g0200
 13 HG00741.hp1
HG01243.hp1
HG01261.hp1
others(10): Show 
HG00741.hp1
HG01243.hp1
HG01261.hp1
HG01358.hp2
HG02055.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG03041.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.579-1111A>G
c.579-1111A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105644232
chr7:105644321 G
G
 C
C
 1 a0001c0001t0001g0214
a0001c0001t0001g0214
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.579-1200C>G
c.579-1200C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105644321
chr7:105644400 G
G
 A
A
 4 a0001c0001t0005g0206
a0001c0001t0028g0114
a0001c0001t0045g0190
others(1): Show 
a0001c0001t0005g0206
a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0056g0210
 4 HG01891.hp2
HG02055.hp2
HG03225.hp2
others(1): Show 
HG01891.hp2
HG02055.hp2
HG03225.hp2
NA19043.hp1
 intron_variant MODIFIER c.579-1279C>T
c.579-1279C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105644400
chr7:105644487 A
A
 C
C
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.579-1366T>G
c.579-1366T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105644487
chr7:105644584 T
T
 C
C
 3 a0001c0001t0017g0195
a0001c0001t0027g0008
a0001c0001t0044g0110
a0001c0001t0017g0195
a0001c0001t0027g0008
a0001c0001t0044g0110
 3 HG02965.hp1
HG03139.hp2
HG03209.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
 intron_variant MODIFIER c.579-1463A>G
c.579-1463A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105644584
chr7:105644604 C
C
 T
T
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.579-1483G>A
c.579-1483G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105644604
chr7:105644690 T
T
 G
G
 2 a0001c0001t0017g0113
a0006c0010t0031g0204
a0001c0001t0017g0113
a0006c0010t0031g0204
 2 HG03209.hp2
HG03579.hp2
HG03209.hp2
HG03579.hp2
 intron_variant MODIFIER c.579-1569A>C
c.579-1569A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105644690
chr7:105644808 G
G
 A
A
 34 a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
others(31): Show 
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0010g0051
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0037g0065
a0001c0001t0062g0007
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0007c0009t0007g0096
 34 HG00280.hp1
HG00741.hp2
HG01069.hp1
others(31): Show 
HG00280.hp1
HG00741.hp2
HG01069.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01943.hp1
HG02148.hp2
HG02280.hp1
HG02602.hp1
HG02630.hp2
HG03490.hp1
HG03688.hp1
HG03831.hp2
HG03942.hp2
HG06807.hp2
NA18747.hp2
NA18957.hp2
NA18971.hp2
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19068.hp1
NA19087.hp1
 intron_variant MODIFIER c.579-1687C>T
c.579-1687C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105644808
chr7:105644839 G
G
 A
A
 132 a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0059
others(129): Show 
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0201
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0006t0001g0112
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 132 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(129): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02280.hp1
HG02451.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp2
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.579-1718C>T
c.579-1718C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105644839
chr7:105644966 C
C
 T
T
 1 a0001c0001t0025g0240
a0001c0001t0025g0240
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.579-1845G>A
c.579-1845G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105644966
chr7:105645061 A
A
 G
G
 2 a0001c0001t0001g0225
a0001c0001t0039g0180
a0001c0001t0001g0225
a0001c0001t0039g0180
 2 HG03098.hp1
NA18522.hp2
HG03098.hp1
NA18522.hp2
 intron_variant MODIFIER c.579-1940T>C
c.579-1940T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645061
chr7:105645087 T
T
 TG
TG
 209 a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
others(206): Show 
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 209 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(206): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.579-1967dupC
c.579-1967dupC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645087
chr7:105645107 G
G
 T
T
 1 a0001c0001t0008g0249
a0001c0001t0008g0249
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.579-1986C>A
c.579-1986C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645107
chr7:105645209 T
T
 C
C
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.579-2088A>G
c.579-2088A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645209
chr7:105645211 C
C
 G
G
 1 a0001c0001t0012g0232
a0001c0001t0012g0232
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.579-2090G>C
c.579-2090G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645211
chr7:105645224 C
C
 A
A
 1 a0001c0001t0051g0035
a0001c0001t0051g0035
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.579-2103G>T
c.579-2103G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645224
chr7:105645278 A
A
 G
G
 6 a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
others(3): Show 
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0060g0192
 6 HG02145.hp1
HG02622.hp2
HG02895.hp1
others(3): Show 
HG02145.hp1
HG02622.hp2
HG02895.hp1
HG02965.hp2
HG03516.hp1
NA19240.hp1
 intron_variant MODIFIER c.579-2157T>C
c.579-2157T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645278
chr7:105645565 G
G
 C
C
 1 a0001c0001t0064g0098
a0001c0001t0064g0098
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.579-2444C>G
c.579-2444C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645565
chr7:105645580 A
A
 G
G
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.579-2459T>C
c.579-2459T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645580
chr7:105645622 C
C
 A
A
 3 a0001c0001t0017g0195
a0001c0001t0027g0008
a0001c0001t0044g0110
a0001c0001t0017g0195
a0001c0001t0027g0008
a0001c0001t0044g0110
 3 HG02965.hp1
HG03139.hp2
HG03209.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
 intron_variant MODIFIER c.579-2501G>T
c.579-2501G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645622
chr7:105645640 C
C
 CA
CA
 51 a0001c0001t0001g0009
a0001c0001t0001g0082
a0001c0001t0001g0106
others(48): Show 
a0001c0001t0001g0009
a0001c0001t0001g0082
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0042
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0055
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0243
a0001c0001t0014g0123
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0043g0105
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0061g0036
a0002c0002t0032g0226
 51 HG00323.hp1
HG00558.hp1
HG00741.hp1
others(48): Show 
HG00323.hp1
HG00558.hp1
HG00741.hp1
HG01069.hp2
HG01074.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01934.hp1
HG01952.hp1
HG02083.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02300.hp2
HG02523.hp1
HG02622.hp1
HG02818.hp1
HG03471.hp1
HG03669.hp1
HG04199.hp2
NA18747.hp1
NA18954.hp1
NA18970.hp1
NA18989.hp2
NA18995.hp2
NA19009.hp2
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19086.hp2
NA19240.hp2
 intron_variant MODIFIER c.579-2520dupT
c.579-2520dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645640
chr7:105645640 C
C
 CAA
CAA
 6 a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
others(3): Show 
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0060g0192
 6 HG02145.hp1
HG02622.hp2
HG02895.hp1
others(3): Show 
HG02145.hp1
HG02622.hp2
HG02895.hp1
HG02965.hp2
HG03516.hp1
NA19240.hp1
 intron_variant MODIFIER c.579-2521_579-2520d
others(4): Show 
c.579-2521_579-2520dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645640
chr7:105645640 CA
CA
 C
C
 33 a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
others(30): Show 
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0037g0065
a0001c0001t0062g0007
a0001c0006t0001g0112
a0004c0013t0036g0107
a0007c0009t0007g0096
 33 HG00280.hp1
HG00741.hp2
HG01069.hp1
others(30): Show 
HG00280.hp1
HG00741.hp2
HG01069.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01943.hp1
HG02280.hp1
HG02602.hp1
HG02630.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03688.hp1
HG03831.hp2
HG03942.hp2
NA18747.hp2
NA18957.hp2
NA18971.hp2
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp1
 intron_variant MODIFIER c.579-2520delT
c.579-2520delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645640
chr7:105645674 G
G
 T
T
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.579-2553C>A
c.579-2553C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645674
chr7:105645752 A
A
 G
G
 5 a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0146
others(2): Show 
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0011g0152
a0001c0001t0024g0077
 5 HG00558.hp2
HG00673.hp1
HG03239.hp2
others(2): Show 
HG00558.hp2
HG00673.hp1
HG03239.hp2
NA18995.hp1
NA19087.hp2
 intron_variant MODIFIER c.579-2631T>C
c.579-2631T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645752
chr7:105645810 C
C
 CACAA
CACAA
 20 a0001c0001t0001g0003
a0001c0001t0001g0082
a0001c0001t0001g0085
others(17): Show 
a0001c0001t0001g0003
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0007g0218
a0001c0001t0008g0073
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0013g0243
a0001c0001t0018g0131
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0056g0210
a0001c0001t0061g0036
 20 HG00558.hp1
HG00673.hp1
HG01099.hp2
others(17): Show 
HG00558.hp1
HG00673.hp1
HG01099.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01515.hp1
HG02300.hp2
HG02735.hp1
HG02735.hp2
HG02896.hp1
HG03041.hp2
HG03225.hp2
HG03471.hp1
NA18747.hp1
NA18945.hp2
NA18950.hp2
NA18995.hp1
NA19043.hp1
NA19087.hp2
 intron_variant MODIFIER c.579-2693_579-2690d
others(6): Show 
c.579-2693_579-2690dupTTGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645810
chr7:105645810 CACAA
CACAA
 C
C
 52 a0001c0001t0001g0017
a0001c0001t0001g0080
a0001c0001t0001g0081
others(49): Show 
a0001c0001t0001g0017
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0177
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0005g0248
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0008g0249
a0001c0001t0009g0141
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0170
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0236
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0060g0192
a0001c0004t0010g0154
 52 HG00642.hp1
HG00673.hp2
HG00738.hp1
others(49): Show 
HG00642.hp1
HG00673.hp2
HG00738.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp1
HG01257.hp1
HG01258.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02132.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp2
HG03942.hp1
NA18522.hp1
NA18906.hp1
NA18948.hp1
NA18950.hp1
NA18970.hp1
NA18989.hp1
NA19000.hp1
NA19030.hp1
NA19043.hp2
NA19060.hp1
NA19074.hp1
NA19074.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.579-2693_579-2690d
others(6): Show 
c.579-2693_579-2690delTTGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645810
chr7:105645810 CACAAACA
others(1): Show 
CACAAACAA
 C
C
 90 a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0059
others(87): Show 
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0153
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0126
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0007g0144
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0010g0051
a0001c0001t0010g0111
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0017g0113
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0048g0132
a0001c0001t0051g0035
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0006t0001g0112
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0002c0002t0059g0200
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 90 HG00280.hp1
HG00323.hp2
HG00642.hp2
others(87): Show 
HG00280.hp1
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01346.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02129.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18971.hp2
NA18989.hp2
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19056.hp1
NA19056.hp2
NA19068.hp1
NA19087.hp1
NA19091.hp1
NA20129.hp2
 intron_variant MODIFIER c.579-2697_579-2690d
others(10): Show 
c.579-2697_579-2690delTTGTTTGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645810
chr7:105645810 CACAAACA
others(5): Show 
CACAAACAAACAA
 C
C
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.579-2701_579-2690d
others(14): Show 
c.579-2701_579-2690delTTGTTTGTTTGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645810
chr7:105645849 A
A
 AAACG
AAACG
 10 a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0160
others(7): Show 
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0008t0014g0165
a0001c0012t0003g0047
 10 HG01934.hp2
HG02071.hp2
HG02129.hp1
others(7): Show 
HG01934.hp2
HG02071.hp2
HG02129.hp1
HG02165.hp2
NA18948.hp2
NA18962.hp1
NA19054.hp1
NA19054.hp2
NA19088.hp1
NA19088.hp2
 intron_variant MODIFIER c.579-2729_579-2728i
others(6): Show 
c.579-2729_579-2728insCGTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645849
chr7:105645849 A
A
 G
G
 12 a0001c0001t0001g0088
a0001c0001t0002g0053
a0001c0001t0002g0187
others(9): Show 
a0001c0001t0001g0088
a0001c0001t0002g0053
a0001c0001t0002g0187
a0001c0001t0003g0171
a0001c0001t0005g0025
a0001c0001t0009g0020
a0001c0001t0010g0095
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0064g0098
a0001c0005t0007g0209
 12 HG01891.hp1
HG01952.hp2
HG01981.hp1
others(9): Show 
HG01891.hp1
HG01952.hp2
HG01981.hp1
HG02135.hp2
HG02300.hp1
HG03942.hp1
NA18970.hp2
NA18994.hp2
NA19000.hp1
NA19005.hp2
NA19067.hp1
NA20300.hp1
 intron_variant MODIFIER c.579-2728T>C
c.579-2728T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645849
chr7:105645873 G
G
 A
A
 1 a0001c0001t0016g0061
a0001c0001t0016g0061
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.579-2752C>T
c.579-2752C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105645873
chr7:105646006 C
C
 CA
CA
 44 a0001c0001t0001g0059
a0001c0001t0001g0163
a0001c0001t0001g0205
others(41): Show 
a0001c0001t0001g0059
a0001c0001t0001g0163
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0016
a0001c0001t0003g0070
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0005g0248
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0010g0111
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0017g0113
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0040g0207
a0001c0001t0048g0132
a0001c0001t0060g0192
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0002c0002t0059g0200
a0006c0010t0031g0204
 44 HG00323.hp2
HG00642.hp2
HG00738.hp2
others(41): Show 
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01069.hp1
HG01175.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01496.hp1
HG02055.hp1
HG02129.hp2
HG02145.hp1
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
NA18906.hp2
NA19060.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.579-2886dupT
c.579-2886dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105646006
chr7:105646168 C
C
 T
T
 1 a0001c0008t0014g0165
a0001c0008t0014g0165
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.579-3047G>A
c.579-3047G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105646168
chr7:105646419 T
T
 C
C
 1 a0001c0001t0050g0155
a0001c0001t0050g0155
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.579-3298A>G
c.579-3298A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105646419
chr7:105646531 T
T
 C
C
 18 a0001c0001t0001g0225
a0001c0001t0004g0135
a0001c0001t0004g0137
others(15): Show 
a0001c0001t0001g0225
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0217
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0018g0058
a0001c0001t0021g0184
a0001c0001t0027g0008
a0001c0001t0044g0110
a0002c0002t0030g0212
a0006c0010t0031g0204
 18 HG02559.hp2
HG02572.hp2
HG02723.hp1
others(15): Show 
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.579-3410A>G
c.579-3410A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105646531
chr7:105646564 C
C
 T
T
 1 a0001c0001t0001g0106
a0001c0001t0001g0106
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.579-3443G>A
c.579-3443G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105646564
chr7:105646566 C
C
 T
T
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.579-3445G>A
c.579-3445G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105646566
chr7:105646608 G
G
 A
A
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.579-3487C>T
c.579-3487C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105646608
chr7:105646609 G
G
 A
A
 1 a0001c0001t0002g0167
a0001c0001t0002g0167
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.579-3488C>T
c.579-3488C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105646609
chr7:105646705 A
A
 G
G
 1 a0001c0001t0003g0050
a0001c0001t0003g0050
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.579-3584T>C
c.579-3584T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105646705
chr7:105646770 C
C
 CA
CA
 154 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
others(151): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0076
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0033g0221
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 154 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(151): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.579-3650dupT
c.579-3650dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105646770
chr7:105646770 C
C
 CAA
CAA
 8 a0001c0001t0003g0086
a0001c0001t0008g0075
a0001c0001t0009g0054
others(5): Show 
a0001c0001t0003g0086
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0010g0051
a0001c0001t0011g0143
a0001c0001t0046g0138
a0001c0004t0010g0154
a0001c0005t0007g0209
 8 HG00642.hp1
HG01891.hp1
HG03130.hp2
others(5): Show 
HG00642.hp1
HG01891.hp1
HG03130.hp2
HG03490.hp2
HG03942.hp2
NA18995.hp1
NA19091.hp2
NA20129.hp1
 intron_variant MODIFIER c.579-3651_579-3650d
others(4): Show 
c.579-3651_579-3650dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105646770
chr7:105646770 C
C
 CAAA
CAAA
 17 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(14): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0217
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0018g0058
a0001c0001t0021g0184
a0001c0001t0027g0008
a0001c0001t0044g0110
a0002c0002t0030g0212
a0006c0010t0031g0204
 17 HG02559.hp2
HG02572.hp2
HG02723.hp1
others(14): Show 
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.579-3652_579-3650d
others(5): Show 
c.579-3652_579-3650dupTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105646770
chr7:105646882 T
T
 C
C
 1 a0001c0001t0023g0247
a0001c0001t0023g0247
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.579-3761A>G
c.579-3761A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105646882
chr7:105646945 GA
GA
 G
G
 26 a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0021
others(23): Show 
a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0153
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0009g0141
a0001c0001t0011g0170
a0001c0001t0023g0183
a0001c0001t0028g0114
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0042g0161
a0001c0001t0045g0190
a0001c0001t0051g0035
a0001c0001t0056g0210
a0001c0001t0058g0018
 26 HG01346.hp2
HG01891.hp2
HG02015.hp1
others(23): Show 
HG01346.hp2
HG01891.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02071.hp1
HG02155.hp2
HG02280.hp1
HG02647.hp2
HG03098.hp1
HG03225.hp2
HG03831.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18989.hp2
NA19010.hp1
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19074.hp1
NA19085.hp1
NA19091.hp1
 intron_variant MODIFIER c.579-3825delT
c.579-3825delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105646945
chr7:105647203 T
T
 C
C
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.579-4082A>G
c.579-4082A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105647203
chr7:105647365 C
C
 T
T
 1 a0001c0001t0022g0224
a0001c0001t0022g0224
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.579-4244G>A
c.579-4244G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105647365
chr7:105647366 G
G
 A
A
 9 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(6): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0018g0058
 9 HG02559.hp2
HG02572.hp2
HG02723.hp1
others(6): Show 
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG03130.hp1
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.579-4245C>T
c.579-4245C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105647366
chr7:105647370 G
G
 C
C
 18 a0001c0001t0001g0225
a0001c0001t0004g0135
a0001c0001t0004g0137
others(15): Show 
a0001c0001t0001g0225
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0217
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0018g0058
a0001c0001t0021g0184
a0001c0001t0027g0008
a0001c0001t0044g0110
a0002c0002t0030g0212
a0006c0010t0031g0204
 18 HG02559.hp2
HG02572.hp2
HG02723.hp1
others(15): Show 
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.579-4249C>G
c.579-4249C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105647370
chr7:105647385 C
C
 T
T
 1 a0001c0001t0011g0099
a0001c0001t0011g0099
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.579-4264G>A
c.579-4264G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105647385
chr7:105647862 G
G
 A
A
 1 a0001c0001t0006g0034
a0001c0001t0006g0034
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.579-4741C>T
c.579-4741C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105647862
chr7:105647959 T
T
 G
G
 5 a0001c0001t0001g0225
a0001c0001t0007g0202
a0001c0001t0007g0223
others(2): Show 
a0001c0001t0001g0225
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
a0001c0001t0060g0192
 5 HG02145.hp1
HG02622.hp2
HG02895.hp1
others(2): Show 
HG02145.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
NA18522.hp2
 intron_variant MODIFIER c.579-4838A>C
c.579-4838A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105647959
chr7:105648010 G
G
 A
A
 4 a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
others(1): Show 
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
a0001c0001t0060g0192
 4 HG02145.hp1
HG02622.hp2
HG02895.hp1
others(1): Show 
HG02145.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
 intron_variant MODIFIER c.579-4889C>T
c.579-4889C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105648010
chr7:105648039 G
G
 C
C
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.579-4918C>G
c.579-4918C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105648039
chr7:105648043 TG
TG
 T
T
 7 a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0009g0055
others(4): Show 
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0009g0055
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
 7 NA18970.hp1
NA19003.hp2
NA19066.hp2
others(4): Show 
NA18970.hp1
NA19003.hp2
NA19066.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.579-4923delC
c.579-4923delC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105648043
chr7:105648236 AAGG
AAGG
 A
A
 21 a0001c0001t0001g0044
a0001c0001t0002g0021
a0001c0001t0002g0042
others(18): Show 
a0001c0001t0001g0044
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0153
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0005g0126
a0001c0001t0006g0034
a0001c0001t0009g0141
a0001c0001t0011g0170
a0001c0001t0023g0183
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0051g0035
a0001c0001t0058g0018
 21 HG01346.hp2
HG02015.hp1
HG02027.hp1
others(18): Show 
HG01346.hp2
HG02015.hp1
HG02027.hp1
HG02071.hp1
HG02155.hp2
HG02280.hp1
HG03831.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18989.hp2
NA19010.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19074.hp1
NA19085.hp1
NA19091.hp1
 intron_variant MODIFIER c.579-5118_579-5116d
others(5): Show 
c.579-5118_579-5116delCCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105648236
chr7:105648325 C
C
 G
G
 1 a0001c0001t0046g0138
a0001c0001t0046g0138
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.579-5204G>C
c.579-5204G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105648325
chr7:105648420 G
G
 A
A
 34 a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
others(31): Show 
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0006g0067
a0001c0001t0010g0051
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0057g0229
a0001c0001t0062g0007
a0001c0001t0064g0098
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0007c0009t0007g0096
 34 HG00280.hp1
HG00741.hp2
HG01168.hp1
others(31): Show 
HG00280.hp1
HG00741.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01943.hp1
HG02135.hp2
HG02148.hp2
HG02602.hp1
HG02630.hp2
HG03490.hp1
HG03688.hp1
HG03831.hp2
HG03942.hp2
HG06807.hp2
NA18747.hp2
NA18957.hp2
NA18971.hp2
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19068.hp1
NA19087.hp1
 intron_variant MODIFIER c.579-5299C>T
c.579-5299C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105648420
chr7:105648632 G
G
 A
A
 1 a0001c0001t0003g0011
a0001c0001t0003g0011
 1 NA18943.hp1
NA18943.hp1
 intron_variant MODIFIER c.579-5511C>T
c.579-5511C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105648632
chr7:105648635 C
C
 T
T
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.579-5514G>A
c.579-5514G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105648635
chr7:105648678 C
C
 T
T
 4 a0001c0001t0005g0206
a0001c0001t0028g0114
a0001c0001t0045g0190
others(1): Show 
a0001c0001t0005g0206
a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0056g0210
 4 HG01891.hp2
HG02055.hp2
HG03225.hp2
others(1): Show 
HG01891.hp2
HG02055.hp2
HG03225.hp2
NA19043.hp1
 intron_variant MODIFIER c.579-5557G>A
c.579-5557G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105648678
chr7:105648742 C
C
 T
T
 2 a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0028g0114
a0001c0001t0045g0190
 2 HG01891.hp2
NA19043.hp1
HG01891.hp2
NA19043.hp1
 intron_variant MODIFIER c.579-5621G>A
c.579-5621G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105648742
chr7:105648843 T
T
 G
G
 5 a0001c0001t0001g0225
a0001c0001t0007g0202
a0001c0001t0007g0223
others(2): Show 
a0001c0001t0001g0225
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
a0001c0001t0060g0192
 5 HG02145.hp1
HG02622.hp2
HG02895.hp1
others(2): Show 
HG02145.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
NA18522.hp2
 intron_variant MODIFIER c.579-5722A>C
c.579-5722A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105648843
chr7:105648926 A
A
 ATTT
ATTT
 17 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(14): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0217
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0018g0058
a0001c0001t0021g0184
a0001c0001t0027g0008
a0001c0001t0044g0110
a0002c0002t0030g0212
a0006c0010t0031g0204
 17 HG02559.hp2
HG02572.hp2
HG02723.hp1
others(14): Show 
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.579-5806_579-5805i
others(5): Show 
c.579-5806_579-5805insAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105648926
chr7:105648930 G
G
 GTCTAATC
others(20): Show 
GTCTAATCACAGTAACGCAAACACTCTC
 17 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(14): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0217
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0018g0058
a0001c0001t0021g0184
a0001c0001t0027g0008
a0001c0001t0044g0110
a0002c0002t0030g0212
a0006c0010t0031g0204
 17 HG02559.hp2
HG02572.hp2
HG02723.hp1
others(14): Show 
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.579-5810_579-5809i
others(29): Show 
c.579-5810_579-5809insGAGAGTGTTTGCGTTACTGTGATTAGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105648930
chr7:105649002 T
T
 C
C
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.579-5881A>G
c.579-5881A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105649002
chr7:105649009 T
T
 C
C
 4 a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
others(1): Show 
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
a0001c0001t0060g0192
 4 HG02145.hp1
HG02622.hp2
HG02895.hp1
others(1): Show 
HG02145.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
 intron_variant MODIFIER c.579-5888A>G
c.579-5888A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105649009
chr7:105649040 C
C
 T
T
 22 a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0021
others(19): Show 
a0001c0001t0001g0044
a0001c0001t0001g0201
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0153
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0005g0126
a0001c0001t0006g0034
a0001c0001t0009g0141
a0001c0001t0011g0170
a0001c0001t0023g0183
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0051g0035
a0001c0001t0058g0018
 22 HG01346.hp2
HG02015.hp1
HG02027.hp1
others(19): Show 
HG01346.hp2
HG02015.hp1
HG02027.hp1
HG02071.hp1
HG02155.hp2
HG02280.hp1
HG02647.hp2
HG03831.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18989.hp2
NA19010.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19074.hp1
NA19085.hp1
NA19091.hp1
 intron_variant MODIFIER c.579-5919G>A
c.579-5919G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105649040
chr7:105649061 A
A
 C
C
 21 a0001c0001t0001g0044
a0001c0001t0002g0021
a0001c0001t0002g0042
others(18): Show 
a0001c0001t0001g0044
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0153
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0005g0126
a0001c0001t0006g0034
a0001c0001t0009g0141
a0001c0001t0011g0170
a0001c0001t0023g0183
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0051g0035
a0001c0001t0058g0018
 21 HG01346.hp2
HG02015.hp1
HG02027.hp1
others(18): Show 
HG01346.hp2
HG02015.hp1
HG02027.hp1
HG02071.hp1
HG02155.hp2
HG02280.hp1
HG03831.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18989.hp2
NA19010.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19074.hp1
NA19085.hp1
NA19091.hp1
 intron_variant MODIFIER c.579-5940T>G
c.579-5940T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105649061
chr7:105649094 G
G
 A
A
 1 a0001c0007t0038g0158
a0001c0007t0038g0158
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.579-5973C>T
c.579-5973C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105649094
chr7:105649246 T
T
 A
A
 2 a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0157
a0001c0001t0011g0164
 2 NA19003.hp2
NA19085.hp2
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.579-6125A>T
c.579-6125A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105649246
chr7:105649329 T
T
 G
G
 1 a0001c0001t0029g0072
a0001c0001t0029g0072
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.579-6208A>C
c.579-6208A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105649329
chr7:105650038 T
T
 C
C
 1 a0001c0001t0005g0248
a0001c0001t0005g0248
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.579-6917A>G
c.579-6917A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105650038
chr7:105650228 T
T
 C
C
 3 a0001c0001t0001g0044
a0001c0001t0002g0179
a0001c0001t0003g0029
a0001c0001t0001g0044
a0001c0001t0002g0179
a0001c0001t0003g0029
 3 NA18954.hp2
NA18957.hp1
NA19056.hp2
NA18954.hp2
NA18957.hp1
NA19056.hp2
 intron_variant MODIFIER c.579-7107A>G
c.579-7107A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105650228
chr7:105650250 A
A
 G
G
 1 a0002c0002t0032g0226
a0002c0002t0032g0226
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.579-7129T>C
c.579-7129T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105650250
chr7:105650405 TAA
TAA
 T
T
 7 a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
others(4): Show 
a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0020g0120
 7 HG00741.hp2
HG01192.hp1
HG01256.hp2
others(4): Show 
HG00741.hp2
HG01192.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.579-7286_579-7285d
others(4): Show 
c.579-7286_579-7285delTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105650405
chr7:105650599 G
G
 A
A
 1 a0001c0001t0010g0091
a0001c0001t0010g0091
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.579-7478C>T
c.579-7478C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105650599
chr7:105650694 A
A
 G
G
 35 a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
others(32): Show 
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0006g0067
a0001c0001t0010g0051
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0039g0180
a0001c0001t0057g0229
a0001c0001t0062g0007
a0001c0001t0064g0098
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0007c0009t0007g0096
 35 HG00280.hp1
HG00741.hp2
HG01168.hp1
others(32): Show 
HG00280.hp1
HG00741.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01943.hp1
HG02135.hp2
HG02148.hp2
HG02602.hp1
HG02630.hp2
HG03098.hp1
HG03490.hp1
HG03688.hp1
HG03831.hp2
HG03942.hp2
HG06807.hp2
NA18747.hp2
NA18957.hp2
NA18971.hp2
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19068.hp1
NA19087.hp1
 intron_variant MODIFIER c.579-7573T>C
c.579-7573T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105650694
chr7:105650997 C
C
 T
T
 112 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
others(109): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0007g0057
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0023g0183
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0042g0161
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0032g0149
a0002c0002t0033g0221
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 112 HG00280.hp1
HG00673.hp2
HG00735.hp2
others(109): Show 
HG00280.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01099.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG03098.hp1
HG03225.hp2
HG03490.hp1
HG03540.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG06807.hp2
NA18747.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.579-7876G>A
c.579-7876G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105650997
chr7:105651334 A
A
 G
G
 2 a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0028g0114
a0001c0001t0045g0190
 2 HG01891.hp2
NA19043.hp1
HG01891.hp2
NA19043.hp1
 intron_variant MODIFIER c.579-8213T>C
c.579-8213T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105651334
chr7:105651428 A
A
 G
G
 6 a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
others(3): Show 
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
a0001c0001t0041g0196
a0001c0001t0060g0192
a0001c0005t0007g0209
 6 HG01891.hp1
HG02145.hp1
HG02622.hp2
others(3): Show 
HG01891.hp1
HG02145.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.579-8307T>C
c.579-8307T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105651428
chr7:105651659 T
T
 C
C
 15 a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0003g0004
others(12): Show 
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0008g0073
a0001c0001t0010g0051
a0001c0001t0012g0028
a0001c0001t0013g0243
a0001c0001t0062g0007
a0001c0001t0064g0098
 15 HG01168.hp2
HG01169.hp1
HG01255.hp1
others(12): Show 
HG01168.hp2
HG01169.hp1
HG01255.hp1
HG01515.hp1
HG02135.hp2
HG03942.hp2
NA18747.hp2
NA18957.hp2
NA18971.hp2
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19068.hp1
NA19087.hp1
 intron_variant MODIFIER c.579-8538A>G
c.579-8538A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105651659
chr7:105651671 C
C
 T
T
 18 a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0002g0049
others(15): Show 
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0245
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0018g0046
 18 HG00280.hp2
HG00642.hp1
HG00735.hp1
others(15): Show 
HG00280.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp2
HG02027.hp2
HG02083.hp1
HG04199.hp1
NA18943.hp2
NA18970.hp1
NA18989.hp1
NA19003.hp2
NA19066.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.579-8550G>A
c.579-8550G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105651671
chr7:105651937 C
C
 T
T
 1 a0001c0001t0004g0203
a0001c0001t0004g0203
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.579-8816G>A
c.579-8816G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105651937
chr7:105651951 C
C
 A
A
 5 a0001c0001t0001g0214
a0001c0001t0004g0219
a0001c0001t0016g0069
others(2): Show 
a0001c0001t0001g0214
a0001c0001t0004g0219
a0001c0001t0016g0069
a0002c0002t0022g0066
a0002c0002t0030g0212
 5 HG02723.hp1
HG03130.hp1
HG03225.hp1
others(2): Show 
HG02723.hp1
HG03130.hp1
HG03225.hp1
HG03471.hp2
HG06807.hp1
 intron_variant MODIFIER c.579-8830G>T
c.579-8830G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105651951
chr7:105652208 G
G
 A
A
 47 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(44): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0174
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0039
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0063g0041
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0005c0011t0008g0092
 47 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(44): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01109.hp2
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02300.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG03669.hp2
HG03688.hp2
NA18948.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19005.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19086.hp1
NA19088.hp1
NA20300.hp1
 intron_variant MODIFIER c.579-9087C>T
c.579-9087C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105652208
chr7:105652239 C
C
 G
G
 27 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
others(24): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0145
a0001c0001t0001g0225
a0001c0001t0002g0053
a0001c0001t0006g0117
a0001c0001t0007g0218
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0228
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0004t0010g0154
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0059g0200
a0006c0010t0031g0204
 27 HG00558.hp2
HG00673.hp1
HG01243.hp1
others(24): Show 
HG00558.hp2
HG00673.hp1
HG01243.hp1
HG01516.hp2
HG01517.hp1
HG02055.hp1
HG02056.hp1
HG02451.hp1
HG02723.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp2
NA18522.hp2
NA18945.hp2
NA18950.hp2
NA18995.hp1
NA19005.hp2
NA19030.hp1
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.579-9118G>C
c.579-9118G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105652239
chr7:105652401 G
G
 C
C
 24 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
others(21): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0145
a0001c0001t0002g0053
a0001c0001t0007g0218
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0035g0151
a0001c0001t0061g0036
a0001c0004t0010g0154
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0059g0200
a0006c0010t0031g0204
 24 HG00558.hp2
HG00673.hp1
HG01099.hp2
others(21): Show 
HG00558.hp2
HG00673.hp1
HG01099.hp2
HG01243.hp1
HG01516.hp2
HG01517.hp1
HG02055.hp1
HG02056.hp1
HG02723.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG03490.hp2
HG03579.hp2
NA18945.hp2
NA18950.hp2
NA18995.hp1
NA19005.hp2
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.579-9280C>G
c.579-9280C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105652401
chr7:105652495 C
C
 T
T
 22 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
others(19): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0145
a0001c0001t0002g0053
a0001c0001t0007g0218
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0195
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0035g0151
a0001c0001t0061g0036
a0001c0004t0010g0154
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0059g0200
 22 HG00558.hp2
HG00673.hp1
HG01099.hp2
others(19): Show 
HG00558.hp2
HG00673.hp1
HG01099.hp2
HG01243.hp1
HG01516.hp2
HG01517.hp1
HG02055.hp1
HG02056.hp1
HG02723.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03041.hp2
HG03209.hp1
HG03490.hp2
NA18945.hp2
NA18950.hp2
NA18995.hp1
NA19005.hp2
NA19087.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.579-9374G>A
c.579-9374G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105652495
chr7:105652576 T
T
 C
C
 2 a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0157
a0001c0001t0011g0164
 2 NA19003.hp2
NA19085.hp2
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.579-9455A>G
c.579-9455A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105652576
chr7:105652624 A
A
 G
G
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.579-9503T>C
c.579-9503T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105652624
chr7:105652658 C
C
 T
T
 1 a0001c0001t0016g0061
a0001c0001t0016g0061
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.579-9537G>A
c.579-9537G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105652658
chr7:105652888 A
A
 T
T
 2 a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0001t0005g0206
a0001c0001t0056g0210
 2 HG02055.hp2
HG03225.hp2
HG02055.hp2
HG03225.hp2
 intron_variant MODIFIER c.579-9767T>A
c.579-9767T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105652888
chr7:105653127 C
C
 T
T
 1 a0001c0001t0008g0015
a0001c0001t0008g0015
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.579-10006G>A
c.579-10006G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105653127
chr7:105653309 G
G
 A
A
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.579-10188C>T
c.579-10188C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105653309
chr7:105653323 C
C
 T
T
 3 a0001c0001t0004g0219
a0001c0001t0016g0069
a0002c0002t0030g0212
a0001c0001t0004g0219
a0001c0001t0016g0069
a0002c0002t0030g0212
 3 HG02723.hp1
HG03130.hp1
HG03471.hp2
HG02723.hp1
HG03130.hp1
HG03471.hp2
 intron_variant MODIFIER c.579-10202G>A
c.579-10202G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105653323
chr7:105653327 A
A
 G
G
 2 a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0028g0114
a0001c0001t0045g0190
 2 HG01891.hp2
NA19043.hp1
HG01891.hp2
NA19043.hp1
 intron_variant MODIFIER c.579-10206T>C
c.579-10206T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105653327
chr7:105653329 T
T
 C
C
 1 a0001c0001t0010g0095
a0001c0001t0010g0095
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.579-10208A>G
c.579-10208A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105653329
chr7:105653358 G
G
 T
T
 48 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(45): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0174
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0039
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0063g0041
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0005c0011t0008g0092
 48 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(45): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01109.hp2
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02300.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19005.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19086.hp1
NA19088.hp1
NA20300.hp1
 intron_variant MODIFIER c.579-10237C>A
c.579-10237C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105653358
chr7:105653612 C
C
 A
A
 7 a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0016g0069
others(4): Show 
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0016g0069
a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0056g0210
a0002c0002t0030g0212
 7 HG01891.hp2
HG02055.hp2
HG02723.hp1
others(4): Show 
HG01891.hp2
HG02055.hp2
HG02723.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.579-10491G>T
c.579-10491G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105653612
chr7:105653782 G
G
 A
A
 1 a0001c0001t0024g0250
a0001c0001t0024g0250
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.579-10661C>T
c.579-10661C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105653782
chr7:105653847 G
G
 A
A
 1 a0001c0001t0014g0083
a0001c0001t0014g0083
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.579-10726C>T
c.579-10726C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105653847
chr7:105653912 G
G
 A
A
 3 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0034g0068
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0034g0068
 3 HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
 intron_variant MODIFIER c.579-10791C>T
c.579-10791C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105653912
chr7:105653943 G
G
 C
C
 1 a0001c0001t0002g0042
a0001c0001t0002g0042
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.579-10822C>G
c.579-10822C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105653943
chr7:105654184 A
A
 G
G
 16 a0001c0001t0001g0102
a0001c0001t0002g0049
a0001c0001t0002g0056
others(13): Show 
a0001c0001t0001g0102
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0245
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0018g0046
 16 HG00280.hp2
HG00642.hp1
HG00735.hp1
others(13): Show 
HG00280.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG02027.hp2
HG04199.hp1
NA18943.hp2
NA18970.hp1
NA18989.hp1
NA19003.hp2
NA19066.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.578+10882T>C
c.578+10882T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105654184
chr7:105654283 T
T
 C
C
 13 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
others(10): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0145
a0001c0001t0002g0053
a0001c0001t0007g0218
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0024g0077
a0001c0001t0061g0036
a0001c0004t0010g0154
 13 HG00558.hp2
HG00673.hp1
HG01099.hp2
others(10): Show 
HG00558.hp2
HG00673.hp1
HG01099.hp2
HG01516.hp2
HG01517.hp1
HG02896.hp1
HG03041.hp2
HG03490.hp2
NA18945.hp2
NA18950.hp2
NA18995.hp1
NA19005.hp2
NA19087.hp2
 intron_variant MODIFIER c.578+10783A>G
c.578+10783A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105654283
chr7:105654301 C
C
 T
T
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.578+10765G>A
c.578+10765G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105654301
chr7:105654311 G
G
 A
A
 2 a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0001t0005g0206
a0001c0001t0056g0210
 2 HG02055.hp2
HG03225.hp2
HG02055.hp2
HG03225.hp2
 intron_variant MODIFIER c.578+10755C>T
c.578+10755C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105654311
chr7:105654370 G
G
 A
A
 6 a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
others(3): Show 
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
a0001c0001t0041g0196
a0001c0001t0060g0192
a0001c0005t0007g0209
 6 HG01891.hp1
HG02145.hp1
HG02622.hp2
others(3): Show 
HG01891.hp1
HG02145.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.578+10696C>T
c.578+10696C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105654370
chr7:105654746 AT
AT
 A
A
 57 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
others(54): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0225
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0245
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0235
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0146
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0045g0190
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0004t0010g0154
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0059g0200
a0006c0010t0031g0204
 57 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(54): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG01099.hp2
HG01243.hp1
HG01256.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02145.hp1
HG02451.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG04199.hp1
NA18522.hp2
NA18943.hp2
NA18945.hp2
NA18950.hp2
NA18970.hp1
NA18989.hp1
NA18995.hp1
NA19003.hp2
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19066.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+10319delA
c.578+10319delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105654746
chr7:105654875 G
G
 C
C
 4 a0001c0001t0001g0082
a0001c0001t0004g0084
a0001c0001t0009g0013
others(1): Show 
a0001c0001t0001g0082
a0001c0001t0004g0084
a0001c0001t0009g0013
a0001c0001t0033g0040
 4 HG01069.hp2
HG01081.hp2
HG02300.hp2
others(1): Show 
HG01069.hp2
HG01081.hp2
HG02300.hp2
HG03239.hp2
 intron_variant MODIFIER c.578+10191C>G
c.578+10191C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105654875
chr7:105654907 A
A
 AT
AT
 8 a0001c0001t0001g0201
a0001c0001t0006g0001
a0001c0001t0008g0175
others(5): Show 
a0001c0001t0001g0201
a0001c0001t0006g0001
a0001c0001t0008g0175
a0001c0001t0023g0183
a0001c0001t0026g0234
a0001c0001t0058g0018
a0002c0002t0032g0149
a0002c0002t0033g0221
 8 HG02027.hp1
HG02056.hp2
HG02148.hp2
others(5): Show 
HG02027.hp1
HG02056.hp2
HG02148.hp2
HG02647.hp2
HG02818.hp2
HG03540.hp2
HG03831.hp1
NA19067.hp2
 intron_variant MODIFIER c.578+10158dupA
c.578+10158dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105654907
chr7:105654907 AT
AT
 A
A
 62 a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
others(59): Show 
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0225
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0245
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0206
a0001c0001t0006g0117
a0001c0001t0007g0218
a0001c0001t0008g0073
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0028
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0014g0083
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0061g0036
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0059g0200
 62 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(59): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG01099.hp2
HG01168.hp2
HG01169.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02135.hp2
HG02451.hp1
HG02723.hp1
HG02723.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03540.hp1
HG04199.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18945.hp2
NA18950.hp2
NA18957.hp2
NA18970.hp1
NA18989.hp1
NA18995.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19091.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+10158delA
c.578+10158delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105654907
chr7:105654925 G
G
 A
A
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.578+10141C>T
c.578+10141C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105654925
chr7:105655149 C
C
 T
T
 1 a0001c0001t0001g0214
a0001c0001t0001g0214
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.578+9917G>A
c.578+9917G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105655149
chr7:105655162 G
G
 A
A
 17 a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0003g0004
others(14): Show 
a0001c0001t0001g0059
a0001c0001t0002g0016
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0010g0111
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0016g0136
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0048g0132
a0001c0001t0062g0007
a0001c0006t0001g0112
 17 HG00323.hp2
HG00642.hp2
HG00738.hp2
others(14): Show 
HG00323.hp2
HG00642.hp2
HG00738.hp2
HG01069.hp1
HG01175.hp1
HG01257.hp2
HG02165.hp1
HG02523.hp2
HG03098.hp2
HG03239.hp1
HG03491.hp1
HG03491.hp2
NA18906.hp2
NA18971.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
 intron_variant MODIFIER c.578+9904C>T
c.578+9904C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105655162
chr7:105655273 G
G
 C
C
 68 a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
others(65): Show 
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0225
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0245
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0206
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0073
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0146
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0028
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0014g0083
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0059g0200
a0006c0010t0031g0204
 68 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(65): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG01099.hp2
HG01168.hp2
HG01169.hp1
HG01243.hp1
HG01255.hp1
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02135.hp2
HG02145.hp1
HG02451.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG04199.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18945.hp2
NA18950.hp2
NA18957.hp2
NA18970.hp1
NA18989.hp1
NA18995.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+9793C>G
c.578+9793C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105655273
chr7:105655312 C
C
 A
A
 16 a0001c0001t0001g0102
a0001c0001t0002g0049
a0001c0001t0002g0056
others(13): Show 
a0001c0001t0001g0102
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0245
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0018g0046
 16 HG00280.hp2
HG00642.hp1
HG00735.hp1
others(13): Show 
HG00280.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG02027.hp2
HG04199.hp1
NA18943.hp2
NA18970.hp1
NA18989.hp1
NA19003.hp2
NA19066.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.578+9754G>T
c.578+9754G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105655312
chr7:105655388 G
G
 A
A
 1 a0001c0001t0064g0098
a0001c0001t0064g0098
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.578+9678C>T
c.578+9678C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105655388
chr7:105655657 C
C
 T
T
 6 a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
others(3): Show 
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
a0001c0001t0041g0196
a0001c0001t0060g0192
a0001c0005t0007g0209
 6 HG01891.hp1
HG02145.hp1
HG02622.hp2
others(3): Show 
HG01891.hp1
HG02145.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.578+9409G>A
c.578+9409G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105655657
chr7:105655808 C
C
 T
T
 1 a0001c0001t0003g0147
a0001c0001t0003g0147
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.578+9258G>A
c.578+9258G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105655808
chr7:105655842 C
C
 T
T
 3 a0001c0001t0006g0024
a0001c0001t0012g0122
a0001c0001t0020g0169
a0001c0001t0006g0024
a0001c0001t0012g0122
a0001c0001t0020g0169
 3 HG01257.hp1
HG01258.hp1
HG04199.hp2
HG01257.hp1
HG01258.hp1
HG04199.hp2
 intron_variant MODIFIER c.578+9224G>A
c.578+9224G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105655842
chr7:105655879 G
G
 A
A
 16 a0001c0001t0001g0102
a0001c0001t0002g0049
a0001c0001t0002g0056
others(13): Show 
a0001c0001t0001g0102
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0245
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0018g0046
 16 HG00280.hp2
HG00642.hp1
HG00735.hp1
others(13): Show 
HG00280.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG02027.hp2
HG04199.hp1
NA18943.hp2
NA18970.hp1
NA18989.hp1
NA19003.hp2
NA19066.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.578+9187C>T
c.578+9187C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105655879
chr7:105656037 C
C
 T
T
 1 a0001c0001t0012g0052
a0001c0001t0012g0052
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.578+9029G>A
c.578+9029G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105656037
chr7:105656134 G
G
 A
A
 6 a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
others(3): Show 
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
a0001c0001t0041g0196
a0001c0001t0060g0192
a0001c0005t0007g0209
 6 HG01891.hp1
HG02145.hp1
HG02622.hp2
others(3): Show 
HG01891.hp1
HG02145.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.578+8932C>T
c.578+8932C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105656134
chr7:105656209 G
G
 A
A
 2 a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0028g0114
a0001c0001t0045g0190
 2 HG01891.hp2
NA19043.hp1
HG01891.hp2
NA19043.hp1
 intron_variant MODIFIER c.578+8857C>T
c.578+8857C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105656209
chr7:105656308 G
G
 T
T
 1 a0001c0001t0007g0223
a0001c0001t0007g0223
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.578+8758C>A
c.578+8758C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105656308
chr7:105656406 T
T
 A
A
 1 a0001c0001t0006g0022
a0001c0001t0006g0022
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.578+8660A>T
c.578+8660A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105656406
chr7:105656454 G
G
 T
T
 1 a0001c0001t0008g0045
a0001c0001t0008g0045
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.578+8612C>A
c.578+8612C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105656454
chr7:105656576 C
C
 CTTTT
CTTTT
 20 a0001c0001t0001g0102
a0001c0001t0001g0205
a0001c0001t0001g0222
others(17): Show 
a0001c0001t0001g0102
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0006g0197
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0083
a0001c0001t0014g0237
a0001c0001t0018g0046
a0001c0001t0034g0068
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0002c0002t0059g0200
 20 HG00280.hp2
HG00323.hp2
HG01884.hp1
others(17): Show 
HG00280.hp2
HG00323.hp2
HG01884.hp1
HG01884.hp2
HG02027.hp2
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG03041.hp1
HG03225.hp2
NA18943.hp2
NA18970.hp1
NA18989.hp1
NA19003.hp2
NA19066.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.578+8486_578+8489d
others(6): Show 
c.578+8486_578+8489dupAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105656576
chr7:105656576 C
C
 CTTTTT
CTTTTT
 83 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
others(80): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0073
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0058
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0006c0010t0031g0204
 83 HG00558.hp2
HG00642.hp1
HG00642.hp2
others(80): Show 
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01261.hp1
HG01358.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG02056.hp1
HG02135.hp2
HG02145.hp1
HG02165.hp1
HG02451.hp1
HG02523.hp2
HG02572.hp2
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18950.hp2
NA18957.hp2
NA18971.hp2
NA18995.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19068.hp1
NA19074.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+8485_578+8489d
others(7): Show 
c.578+8485_578+8489dupAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105656576
chr7:105656602 G
G
 A
A
 2 a0001c0001t0017g0213
a0001c0001t0052g0133
a0001c0001t0017g0213
a0001c0001t0052g0133
 2 HG02630.hp1
HG03516.hp2
HG02630.hp1
HG03516.hp2
 intron_variant MODIFIER c.578+8464C>T
c.578+8464C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105656602
chr7:105656731 C
C
 T
T
 1 a0002c0002t0022g0220
a0002c0002t0022g0220
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.578+8335G>A
c.578+8335G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105656731
chr7:105656783 A
A
 C
C
 30 a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0102
others(27): Show 
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0102
a0001c0001t0001g0225
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0128
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0206
a0001c0001t0007g0217
a0001c0001t0008g0073
a0001c0001t0009g0103
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0028
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0014g0083
a0001c0001t0016g0069
a0001c0001t0018g0046
a0001c0001t0021g0184
a0001c0001t0027g0008
a0001c0001t0028g0114
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0064g0098
a0002c0002t0022g0066
a0002c0002t0030g0212
 30 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(27): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG01168.hp2
HG01169.hp1
HG01255.hp1
HG01515.hp1
HG01891.hp2
HG02027.hp2
HG02055.hp2
HG02135.hp2
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03471.hp2
NA18522.hp2
NA18747.hp2
NA18943.hp2
NA18957.hp2
NA18989.hp1
NA19003.hp1
NA19003.hp2
NA19043.hp1
NA19068.hp1
NA19085.hp2
NA19240.hp1
 intron_variant MODIFIER c.578+8283T>G
c.578+8283T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105656783
chr7:105656847 C
C
 T
T
 1 a0005c0011t0008g0092
a0005c0011t0008g0092
 1 HG02148.hp1
HG02148.hp1
 intron_variant MODIFIER c.578+8219G>A
c.578+8219G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105656847
chr7:105656862 C
C
 A
A
 1 a0001c0001t0002g0160
a0001c0001t0002g0160
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.578+8204G>T
c.578+8204G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105656862
chr7:105656863 G
G
 A
A
 4 a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
others(1): Show 
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
a0001c0001t0060g0192
 4 HG02145.hp1
HG02622.hp2
HG02895.hp1
others(1): Show 
HG02145.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
 intron_variant MODIFIER c.578+8203C>T
c.578+8203C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105656863
chr7:105657073 A
A
 G
G
 81 a0001c0001t0001g0005
a0001c0001t0001g0074
a0001c0001t0001g0078
others(78): Show 
a0001c0001t0001g0005
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0042g0161
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0064g0098
a0001c0006t0001g0112
a0002c0002t0032g0149
a0002c0002t0033g0221
a0003c0003t0020g0199
a0006c0010t0031g0204
 81 HG00280.hp2
HG00558.hp1
HG00642.hp1
others(78): Show 
HG00280.hp2
HG00558.hp1
HG00642.hp1
HG00738.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp2
HG02572.hp1
HG02622.hp2
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03942.hp1
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18957.hp2
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA18994.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.578+7993T>C
c.578+7993T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657073
chr7:105657250 T
T
 C
C
 250 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(247): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 250 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(247): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+7816A>G
c.578+7816A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657250
chr7:105657297 G
G
 C
C
 4 a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
others(1): Show 
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
a0001c0001t0060g0192
 4 HG02145.hp1
HG02622.hp2
HG02895.hp1
others(1): Show 
HG02145.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
 intron_variant MODIFIER c.578+7769C>G
c.578+7769C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657297
chr7:105657308 T
T
 C
C
 26 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0201
others(23): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0061g0036
a0002c0002t0022g0066
a0002c0002t0032g0149
a0002c0002t0033g0221
a0006c0010t0031g0204
 26 HG01099.hp2
HG01167.hp1
HG01243.hp1
others(23): Show 
HG01099.hp2
HG01167.hp1
HG01243.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG02055.hp1
HG02056.hp1
HG02280.hp2
HG02451.hp2
HG02630.hp1
HG02647.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.578+7758A>G
c.578+7758A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657308
chr7:105657319 T
T
 C
C
 1 a0001c0001t0006g0022
a0001c0001t0006g0022
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.578+7747A>G
c.578+7747A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657319
chr7:105657530 T
T
 A
A
 1 a0001c0001t0002g0167
a0001c0001t0002g0167
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.578+7536A>T
c.578+7536A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657530
chr7:105657564 G
G
 C
C
 91 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(88): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0142
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0043g0105
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0064g0098
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 91 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(88): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03579.hp1
HG03669.hp1
HG03688.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18957.hp2
NA18962.hp2
NA18994.hp1
NA19003.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp1
NA19074.hp2
NA19079.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+7502C>G
c.578+7502C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657564
chr7:105657571 C
C
 T
T
 1 a0001c0001t0001g0163
a0001c0001t0001g0163
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.578+7495G>A
c.578+7495G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657571
chr7:105657584 C
C
 A
A
 2 a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0008g0073
a0001c0001t0012g0028
 2 HG01168.hp2
HG01169.hp1
HG01168.hp2
HG01169.hp1
 intron_variant MODIFIER c.578+7482G>T
c.578+7482G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657584
chr7:105657702 C
C
 CA
CA
 44 a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0102
others(41): Show 
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0003g0090
a0001c0001t0004g0137
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0009g0141
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0016g0136
a0001c0001t0017g0113
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0227
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0062g0007
a0002c0002t0030g0212
a0006c0010t0031g0204
a0007c0009t0007g0096
 44 HG00558.hp1
HG00673.hp2
HG01099.hp1
others(41): Show 
HG00558.hp1
HG00673.hp2
HG01099.hp1
HG01109.hp2
HG01175.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG02071.hp1
HG02083.hp1
HG02083.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02738.hp2
HG02818.hp1
HG02896.hp1
HG03209.hp2
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18989.hp1
NA18994.hp2
NA19000.hp2
NA19010.hp1
NA19043.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19086.hp2
NA19088.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+7363dupT
c.578+7363dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657702
chr7:105657702 C
C
 CAA
CAA
 6 a0001c0001t0002g0167
a0001c0001t0010g0051
a0001c0001t0016g0069
others(3): Show 
a0001c0001t0002g0167
a0001c0001t0010g0051
a0001c0001t0016g0069
a0001c0001t0045g0190
a0001c0001t0051g0035
a0001c0001t0063g0041
 6 HG01346.hp2
HG01891.hp2
HG02145.hp2
others(3): Show 
HG01346.hp2
HG01891.hp2
HG02145.hp2
HG03130.hp1
HG03942.hp2
NA19088.hp1
 intron_variant MODIFIER c.578+7362_578+7363d
others(4): Show 
c.578+7362_578+7363dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657702
chr7:105657702 C
C
 CAAA
CAAA
 13 a0001c0001t0005g0206
a0001c0001t0007g0217
a0001c0001t0007g0218
others(10): Show 
a0001c0001t0005g0206
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0024g0250
a0001c0001t0044g0110
a0001c0001t0052g0133
a0002c0002t0032g0149
a0002c0002t0033g0221
 13 HG01167.hp1
HG01243.hp1
HG02055.hp2
others(10): Show 
HG01167.hp1
HG01243.hp1
HG02055.hp2
HG02056.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03209.hp1
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.578+7361_578+7363d
others(5): Show 
c.578+7361_578+7363dupTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657702
chr7:105657702 C
C
 CAAAA
CAAAA
 17 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
others(14): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0201
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0005g0126
a0001c0001t0006g0067
a0001c0001t0011g0012
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0018g0046
a0001c0001t0021g0184
a0001c0001t0027g0008
a0001c0001t0046g0138
a0001c0001t0061g0036
a0002c0002t0022g0066
 17 HG00642.hp1
HG00735.hp1
HG00738.hp1
others(14): Show 
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01099.hp2
HG01175.hp2
HG01516.hp2
HG01517.hp1
HG02015.hp1
HG02027.hp2
HG02300.hp2
HG02647.hp2
HG03139.hp2
HG03225.hp1
NA18970.hp1
NA19085.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.578+7360_578+7363d
others(6): Show 
c.578+7360_578+7363dupTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657702
chr7:105657702 CA
CA
 C
C
 5 a0001c0001t0001g0214
a0001c0001t0015g0109
a0001c0001t0031g0172
others(2): Show 
a0001c0001t0001g0214
a0001c0001t0015g0109
a0001c0001t0031g0172
a0002c0002t0030g0208
a0003c0003t0020g0199
 5 HG01256.hp1
HG01257.hp2
HG01358.hp1
others(2): Show 
HG01256.hp1
HG01257.hp2
HG01358.hp1
HG02896.hp2
HG06807.hp1
 intron_variant MODIFIER c.578+7363delT
c.578+7363delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657702
chr7:105657702 CAAAAAAA
CAAAAAAA
 C
C
 12 a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0205
others(9): Show 
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0003g0050
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0020g0120
a0001c0001t0026g0234
a0001c0001t0064g0098
 12 HG01192.hp1
HG01255.hp1
HG01515.hp2
others(9): Show 
HG01192.hp1
HG01255.hp1
HG01515.hp2
HG01517.hp2
HG02135.hp2
HG02148.hp2
HG02280.hp2
HG02451.hp2
NA18747.hp2
NA18957.hp2
NA19003.hp1
NA19068.hp1
 intron_variant MODIFIER c.578+7357_578+7363d
others(9): Show 
c.578+7357_578+7363delTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105657702
chr7:105658130 G
G
 C
C
 87 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(84): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0142
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0043g0105
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0064g0098
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 87 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(84): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03579.hp1
HG03669.hp1
HG03688.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18957.hp2
NA18962.hp2
NA18994.hp1
NA19003.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp1
NA19074.hp2
NA19079.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+6936C>G
c.578+6936C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658130
chr7:105658130 G
G
 T
T
 42 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
others(39): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0067
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0056g0210
a0001c0001t0061g0036
a0002c0002t0022g0066
a0002c0002t0033g0221
a0006c0010t0031g0204
 42 HG00280.hp2
HG00642.hp1
HG00735.hp1
others(39): Show 
HG00280.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.578+6936C>A
c.578+6936C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658130
chr7:105658135 C
C
 T
T
 2 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0205
a0001c0001t0001g0222
 2 HG02280.hp2
HG02451.hp2
HG02280.hp2
HG02451.hp2
 intron_variant MODIFIER c.578+6931G>A
c.578+6931G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658135
chr7:105658140 C
C
 T
T
 1 a0001c0001t0004g0128
a0001c0001t0004g0128
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.578+6926G>A
c.578+6926G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658140
chr7:105658141 G
G
 A
A
 3 a0001c0001t0004g0219
a0001c0001t0016g0069
a0002c0002t0030g0212
a0001c0001t0004g0219
a0001c0001t0016g0069
a0002c0002t0030g0212
 3 HG02723.hp1
HG03130.hp1
HG03471.hp2
HG02723.hp1
HG03130.hp1
HG03471.hp2
 intron_variant MODIFIER c.578+6925C>T
c.578+6925C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658141
chr7:105658216 C
C
 CA
CA
 90 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(87): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0010g0093
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0049g0148
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0001t0064g0098
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 90 HG00280.hp1
HG00323.hp1
HG00741.hp2
others(87): Show 
HG00280.hp1
HG00323.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02895.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18957.hp2
NA18994.hp1
NA19003.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp1
NA19074.hp2
NA19079.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+6849dupT
c.578+6849dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658216
chr7:105658216 CA
CA
 C
C
 36 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
others(33): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0201
a0001c0001t0002g0177
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0005g0126
a0001c0001t0006g0067
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0009g0141
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0021g0184
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0061g0036
a0002c0002t0022g0066
a0002c0002t0033g0221
a0006c0010t0031g0204
 36 HG00280.hp2
HG00642.hp1
HG00735.hp1
others(33): Show 
HG00280.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG02015.hp1
HG02056.hp1
HG02300.hp2
HG02630.hp1
HG02647.hp2
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
NA18948.hp1
NA18970.hp1
NA19003.hp2
NA19074.hp1
NA19085.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.578+6849delT
c.578+6849delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658216
chr7:105658295 T
T
 C
C
 1 a0001c0001t0006g0001
a0001c0001t0006g0001
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.578+6771A>G
c.578+6771A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658295
chr7:105658337 G
G
 A
A
 30 a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
others(27): Show 
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0008g0073
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0013g0243
a0001c0001t0018g0046
a0001c0001t0023g0183
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0054g0087
a0003c0003t0020g0199
 30 HG01168.hp2
HG01169.hp1
HG01358.hp1
others(27): Show 
HG01168.hp2
HG01169.hp1
HG01358.hp1
HG01515.hp1
HG01934.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02280.hp1
HG03942.hp2
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18989.hp2
NA18995.hp2
NA19010.hp1
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.578+6729C>T
c.578+6729C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658337
chr7:105658381 C
C
 A
A
 1 a0001c0001t0046g0138
a0001c0001t0046g0138
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.578+6685G>T
c.578+6685G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658381
chr7:105658482 T
T
 C
C
 3 a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
 3 HG01891.hp2
HG03209.hp2
HG03579.hp2
HG01891.hp2
HG03209.hp2
HG03579.hp2
 intron_variant MODIFIER c.578+6584A>G
c.578+6584A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658482
chr7:105658505 C
C
 A
A
 9 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(6): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 9 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(6): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+6561G>T
c.578+6561G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658505
chr7:105658516 C
C
 T
T
 34 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
others(31): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0201
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0067
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0021g0184
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0061g0036
a0002c0002t0022g0066
a0002c0002t0033g0221
a0006c0010t0031g0204
 34 HG00280.hp2
HG00642.hp1
HG00735.hp1
others(31): Show 
HG00280.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG01099.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02300.hp2
HG02630.hp1
HG02647.hp2
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.578+6550G>A
c.578+6550G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658516
chr7:105658523 C
C
 CT
CT
 59 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0119
others(56): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0012g0064
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 59 HG00280.hp1
HG00323.hp1
HG01069.hp2
others(56): Show 
HG00280.hp1
HG00323.hp1
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01168.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02630.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03490.hp1
HG03579.hp1
HG03669.hp1
HG03688.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA19009.hp2
NA19043.hp2
NA19074.hp2
NA19079.hp1
NA19240.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+6542dupA
c.578+6542dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658523
chr7:105658523 CT
CT
 C
C
 138 a0001c0001t0001g0009
a0001c0001t0001g0033
a0001c0001t0001g0044
others(135): Show 
a0001c0001t0001g0009
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0073
a0001c0001t0008g0175
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0003c0003t0020g0199
a0005c0011t0008g0092
a0006c0010t0031g0204
 138 HG00280.hp2
HG00323.hp2
HG00558.hp1
others(135): Show 
HG00280.hp2
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02148.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp2
HG06807.hp1
NA18747.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.578+6542delA
c.578+6542delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658523
chr7:105658523 CTT
CTT
 C
C
 7 a0001c0001t0001g0017
a0001c0001t0001g0145
a0001c0001t0004g0203
others(4): Show 
a0001c0001t0001g0017
a0001c0001t0001g0145
a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
a0001c0001t0045g0190
 7 HG01891.hp2
HG02622.hp1
HG02622.hp2
others(4): Show 
HG01891.hp2
HG02622.hp1
HG02622.hp2
HG02895.hp1
HG02896.hp1
HG03516.hp1
HG03688.hp2
 intron_variant MODIFIER c.578+6541_578+6542d
others(4): Show 
c.578+6541_578+6542delAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658523
chr7:105658582 G
G
 GTGCA
GTGCA
 34 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
others(31): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0201
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0198
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0067
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0021g0184
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0061g0036
a0002c0002t0022g0066
a0002c0002t0033g0221
a0006c0010t0031g0204
 34 HG00280.hp2
HG00642.hp1
HG00735.hp1
others(31): Show 
HG00280.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp1
HG01099.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02300.hp2
HG02630.hp1
HG02647.hp2
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.578+6480_578+6483d
others(6): Show 
c.578+6480_578+6483dupTGCA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658582
chr7:105658607 C
C
 T
T
 1 a0001c0001t0035g0151
a0001c0001t0035g0151
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+6459G>A
c.578+6459G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658607
chr7:105658680 G
G
 A
A
 1 a0001c0001t0035g0151
a0001c0001t0035g0151
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+6386C>T
c.578+6386C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658680
chr7:105658744 G
G
 A
A
 1 a0001c0001t0008g0015
a0001c0001t0008g0015
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.578+6322C>T
c.578+6322C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658744
chr7:105658751 C
C
 T
T
 1 a0001c0001t0057g0229
a0001c0001t0057g0229
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.578+6315G>A
c.578+6315G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658751
chr7:105658925 T
T
 C
C
 151 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0080
others(148): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0061g0036
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0006c0010t0031g0204
a0007c0009t0007g0096
 151 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(148): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp2
NA18970.hp1
NA18989.hp2
NA18995.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+6141A>G
c.578+6141A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658925
chr7:105658958 G
G
 A
A
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.578+6108C>T
c.578+6108C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105658958
chr7:105659068 T
T
 C
C
 213 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(210): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 213 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(210): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+5998A>G
c.578+5998A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105659068
chr7:105659079 G
G
 A
A
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.578+5987C>T
c.578+5987C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105659079
chr7:105659131 C
C
 T
T
 31 a0001c0001t0001g0214
a0001c0001t0002g0021
a0001c0001t0002g0042
others(28): Show 
a0001c0001t0001g0214
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0008g0073
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0013g0243
a0001c0001t0018g0046
a0001c0001t0023g0183
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0054g0087
a0003c0003t0020g0199
 31 HG01168.hp2
HG01169.hp1
HG01358.hp1
others(28): Show 
HG01168.hp2
HG01169.hp1
HG01358.hp1
HG01515.hp1
HG01934.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02280.hp1
HG03942.hp2
HG06807.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18989.hp2
NA18995.hp2
NA19010.hp1
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.578+5935G>A
c.578+5935G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105659131
chr7:105659136 C
C
 CA
CA
 21 a0001c0001t0001g0201
a0001c0001t0004g0198
a0001c0001t0005g0206
others(18): Show 
a0001c0001t0001g0201
a0001c0001t0004g0198
a0001c0001t0005g0206
a0001c0001t0006g0067
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0021g0184
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0002c0002t0022g0066
a0002c0002t0033g0221
a0006c0010t0031g0204
 21 HG00735.hp1
HG01175.hp2
HG01243.hp1
others(18): Show 
HG00735.hp1
HG01175.hp2
HG01243.hp1
HG01891.hp2
HG02055.hp2
HG02056.hp1
HG02630.hp1
HG02647.hp2
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.578+5929dupT
c.578+5929dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105659136
chr7:105659199 T
T
 C
C
 1 a0001c0001t0011g0099
a0001c0001t0011g0099
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.578+5867A>G
c.578+5867A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105659199
chr7:105659478 TA
TA
 T
T
 5 a0001c0001t0001g0145
a0001c0001t0006g0117
a0001c0001t0010g0228
others(2): Show 
a0001c0001t0001g0145
a0001c0001t0006g0117
a0001c0001t0010g0228
a0001c0001t0029g0215
a0002c0002t0032g0149
 5 HG02451.hp1
HG02818.hp2
HG02896.hp1
others(2): Show 
HG02451.hp1
HG02818.hp2
HG02896.hp1
HG03540.hp1
NA19030.hp1
 intron_variant MODIFIER c.578+5587delT
c.578+5587delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105659478
chr7:105659519 A
A
 G
G
 3 a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
 3 HG01891.hp2
HG03209.hp2
HG03579.hp2
HG01891.hp2
HG03209.hp2
HG03579.hp2
 intron_variant MODIFIER c.578+5547T>C
c.578+5547T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105659519
chr7:105659865 T
T
 G
G
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.578+5201A>C
c.578+5201A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105659865
chr7:105659901 G
G
 A
A
 1 a0001c0001t0003g0011
a0001c0001t0003g0011
 1 NA18943.hp1
NA18943.hp1
 intron_variant MODIFIER c.578+5165C>T
c.578+5165C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105659901
chr7:105660006 G
G
 C
C
 3 a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
 3 HG01891.hp2
HG03209.hp2
HG03579.hp2
HG01891.hp2
HG03209.hp2
HG03579.hp2
 intron_variant MODIFIER c.578+5060C>G
c.578+5060C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660006
chr7:105660113 A
A
 G
G
 3 a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
 3 HG02622.hp2
HG02895.hp1
HG03516.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
 intron_variant MODIFIER c.578+4953T>C
c.578+4953T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660113
chr7:105660230 C
C
 T
T
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.578+4836G>A
c.578+4836G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660230
chr7:105660258 C
C
 T
T
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.578+4808G>A
c.578+4808G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660258
chr7:105660261 G
G
 C
C
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.578+4805C>G
c.578+4805C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660261
chr7:105660269 T
T
 C
C
 1 a0001c0001t0037g0065
a0001c0001t0037g0065
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.578+4797A>G
c.578+4797A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660269
chr7:105660460 AT
AT
 A
A
 75 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0119
others(72): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0018g0058
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 75 HG00280.hp1
HG00323.hp1
HG00741.hp2
others(72): Show 
HG00280.hp1
HG00323.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01168.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03579.hp1
HG03669.hp1
HG03688.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19074.hp2
NA19079.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+4605delA
c.578+4605delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660460
chr7:105660460 ATT
ATT
 A
A
 21 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0201
others(18): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0201
a0001c0001t0004g0198
a0001c0001t0006g0067
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0021g0184
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0061g0036
a0002c0002t0022g0066
a0002c0002t0033g0221
 21 HG00735.hp1
HG01099.hp2
HG01167.hp1
others(18): Show 
HG00735.hp1
HG01099.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp1
HG01516.hp2
HG01517.hp1
HG02056.hp1
HG02630.hp1
HG02647.hp2
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.578+4604_578+4605d
others(4): Show 
c.578+4604_578+4605delAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660460
chr7:105660476 G
G
 A
A
 1 a0001c0001t0001g0163
a0001c0001t0001g0163
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.578+4590C>T
c.578+4590C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660476
chr7:105660576 C
C
 CT
CT
 96 a0001c0001t0001g0003
a0001c0001t0001g0080
a0001c0001t0001g0081
others(93): Show 
a0001c0001t0001g0003
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0042
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0010g0095
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0061g0036
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 96 HG00280.hp1
HG00323.hp1
HG00735.hp1
others(93): Show 
HG00280.hp1
HG00323.hp1
HG00735.hp1
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02056.hp1
HG02071.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03831.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18950.hp1
NA18989.hp2
NA19000.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19074.hp2
NA19079.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+4489dupA
c.578+4489dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660576
chr7:105660576 C
C
 CTT
CTT
 13 a0001c0001t0001g0026
a0001c0001t0002g0239
a0001c0001t0002g0245
others(10): Show 
a0001c0001t0001g0026
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0004g0135
a0001c0001t0007g0202
a0001c0001t0008g0089
a0001c0001t0018g0058
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0022g0224
a0001c0001t0052g0133
a0001c0001t0056g0210
a0001c0001t0060g0192
 13 HG00741.hp2
HG01433.hp1
HG01934.hp1
others(10): Show 
HG00741.hp2
HG01433.hp1
HG01934.hp1
HG02055.hp1
HG02145.hp1
HG02523.hp1
HG02572.hp2
HG02895.hp1
HG03225.hp2
HG03516.hp2
HG03688.hp1
HG04199.hp1
NA20300.hp2
 intron_variant MODIFIER c.578+4488_578+4489d
others(4): Show 
c.578+4488_578+4489dupAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660576
chr7:105660576 CT
CT
 C
C
 41 a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0102
others(38): Show 
a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0005g0126
a0001c0001t0006g0117
a0001c0001t0008g0015
a0001c0001t0009g0020
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0028
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0016g0136
a0001c0001t0024g0077
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0048g0132
a0001c0001t0051g0035
a0001c0004t0010g0154
a0001c0006t0001g0112
a0002c0002t0032g0149
 41 HG00280.hp2
HG00323.hp2
HG00558.hp2
others(38): Show 
HG00280.hp2
HG00323.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp1
HG01081.hp1
HG01169.hp1
HG01175.hp1
HG01257.hp2
HG01346.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02165.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp2
HG02818.hp2
HG02896.hp1
HG03098.hp2
HG03239.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp1
NA18906.hp2
NA18945.hp2
NA18957.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA19003.hp2
NA19005.hp2
NA19030.hp1
NA19085.hp2
NA19091.hp2
 intron_variant MODIFIER c.578+4489delA
c.578+4489delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660576
chr7:105660664 C
C
 T
T
 2 a0001c0001t0004g0084
a0001c0001t0033g0040
a0001c0001t0004g0084
a0001c0001t0033g0040
 2 HG01069.hp2
HG01081.hp2
HG01069.hp2
HG01081.hp2
 intron_variant MODIFIER c.578+4402G>A
c.578+4402G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660664
chr7:105660696 C
C
 T
T
 1 a0001c0001t0002g0167
a0001c0001t0002g0167
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.578+4370G>A
c.578+4370G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660696
chr7:105660727 T
T
 C
C
 13 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(10): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
 13 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(10): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG01891.hp2
HG02015.hp1
HG02055.hp2
HG02300.hp2
HG03209.hp2
HG03579.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+4339A>G
c.578+4339A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660727
chr7:105660741 C
C
 T
T
 3 a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0004g0246
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0004g0246
 3 NA18747.hp2
NA18957.hp2
NA19003.hp1
NA18747.hp2
NA18957.hp2
NA19003.hp1
 intron_variant MODIFIER c.578+4325G>A
c.578+4325G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660741
chr7:105660940 T
T
 C
C
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.578+4126A>G
c.578+4126A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105660940
chr7:105661259 G
G
 T
T
 9 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(6): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 9 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(6): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+3807C>A
c.578+3807C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105661259
chr7:105661265 C
C
 T
T
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.578+3801G>A
c.578+3801G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105661265
chr7:105661289 C
C
 T
T
 1 a0001c0001t0046g0138
a0001c0001t0046g0138
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.578+3777G>A
c.578+3777G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105661289
chr7:105661298 T
T
 C
C
 13 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(10): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
 13 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(10): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG01891.hp2
HG02015.hp1
HG02055.hp2
HG02300.hp2
HG03209.hp2
HG03579.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+3768A>G
c.578+3768A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105661298
chr7:105661397 G
G
 C
C
 2 a0001c0001t0007g0217
a0001c0001t0021g0184
a0001c0001t0007g0217
a0001c0001t0021g0184
 2 HG02965.hp2
NA19240.hp1
HG02965.hp2
NA19240.hp1
 intron_variant MODIFIER c.578+3669C>G
c.578+3669C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105661397
chr7:105661476 C
C
 T
T
 6 a0001c0001t0002g0142
a0001c0001t0003g0090
a0001c0001t0008g0015
others(3): Show 
a0001c0001t0002g0142
a0001c0001t0003g0090
a0001c0001t0008g0015
a0001c0001t0018g0131
a0001c0001t0043g0105
a0001c0001t0051g0035
 6 HG00558.hp1
HG01346.hp2
HG02083.hp2
others(3): Show 
HG00558.hp1
HG01346.hp2
HG02083.hp2
NA18747.hp1
NA18962.hp2
NA19088.hp2
 intron_variant MODIFIER c.578+3590G>A
c.578+3590G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105661476
chr7:105661570 G
G
 A
A
 1 a0001c0001t0029g0072
a0001c0001t0029g0072
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.578+3496C>T
c.578+3496C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105661570
chr7:105661743 C
C
 T
T
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.578+3323G>A
c.578+3323G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105661743
chr7:105661765 G
G
 C
C
 1 a0001c0001t0002g0239
a0001c0001t0002g0239
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.578+3301C>G
c.578+3301C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105661765
chr7:105662010 TTTTC
TTTTC
 T
T
 35 a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0002g0042
others(32): Show 
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0005g0025
a0001c0001t0006g0024
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0216
a0001c0001t0009g0103
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0018g0131
a0001c0001t0022g0224
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0035g0151
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0052g0133
a0002c0002t0030g0208
a0002c0002t0033g0221
a0003c0003t0005g0079
 35 HG01167.hp1
HG01168.hp2
HG01169.hp1
others(32): Show 
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01891.hp2
HG01952.hp1
HG02055.hp1
HG02083.hp2
HG02647.hp1
HG02818.hp1
HG02896.hp2
HG03041.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18943.hp2
NA18950.hp1
NA18962.hp2
NA18989.hp2
NA19067.hp1
NA19079.hp1
NA19087.hp1
NA19088.hp2
NA19091.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+3052_578+3055d
others(6): Show 
c.578+3052_578+3055delGAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662010
chr7:105662010 TTTTCTTT
others(1): Show 
TTTTCTTTC
 T
T
 18 a0001c0001t0001g0026
a0001c0001t0001g0185
a0001c0001t0003g0043
others(15): Show 
a0001c0001t0001g0026
a0001c0001t0001g0185
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0004g0137
a0001c0001t0005g0014
a0001c0001t0006g0116
a0001c0001t0008g0089
a0001c0001t0009g0097
a0001c0001t0012g0064
a0001c0001t0014g0166
a0001c0001t0018g0058
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0023g0247
a0002c0002t0022g0220
a0002c0002t0032g0226
a0004c0013t0036g0107
 18 HG00280.hp1
HG01074.hp2
HG01261.hp2
others(15): Show 
HG00280.hp1
HG01074.hp2
HG01261.hp2
HG01346.hp1
HG01934.hp1
HG01981.hp2
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02523.hp1
HG02572.hp2
HG02602.hp1
HG02723.hp2
HG03471.hp1
HG03579.hp1
HG03688.hp1
NA19009.hp2
NA19043.hp2
 intron_variant MODIFIER c.578+3048_578+3055d
others(10): Show 
c.578+3048_578+3055delGAAAGAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662010
chr7:105662013 T
T
 A
A
 1 a0001c0006t0001g0112
a0001c0006t0001g0112
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.578+3053A>T
c.578+3053A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662013
chr7:105662019 TTTCTTTC
others(5): Show 
TTTCTTTCTTTCC
 T
T
 12 a0001c0001t0001g0225
a0001c0001t0004g0135
a0001c0001t0004g0211
others(9): Show 
a0001c0001t0001g0225
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0006g0197
a0001c0001t0012g0122
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0026g0189
a0001c0001t0039g0180
a0001c0001t0053g0031
a0001c0001t0057g0229
a0007c0009t0007g0096
 12 HG00741.hp2
HG01109.hp1
HG01255.hp2
others(9): Show 
HG00741.hp2
HG01109.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01884.hp2
HG02559.hp2
HG02630.hp2
HG03098.hp1
NA18522.hp1
NA18522.hp2
NA20300.hp2
 intron_variant MODIFIER c.578+3035_578+3046d
others(14): Show 
c.578+3035_578+3046delGGAAAGAAAGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662019
chr7:105662019 TTTCTTTC
others(9): Show 
TTTCTTTCTTTCCTTCC
 T
T
 6 a0001c0001t0002g0245
a0001c0001t0004g0084
a0001c0001t0009g0013
others(3): Show 
a0001c0001t0002g0245
a0001c0001t0004g0084
a0001c0001t0009g0013
a0001c0001t0012g0115
a0001c0001t0016g0139
a0001c0001t0033g0040
 6 HG01069.hp2
HG01081.hp2
HG01943.hp1
others(3): Show 
HG01069.hp2
HG01081.hp2
HG01943.hp1
HG03239.hp2
HG04199.hp1
NA18906.hp1
 intron_variant MODIFIER c.578+3031_578+3046d
others(18): Show 
c.578+3031_578+3046delGGAAGGAAAGAAAGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662019
chr7:105662019 TTTCTTTC
others(13): Show 
TTTCTTTCTTTCCTTCCTTCC
 T
T
 3 a0001c0001t0003g0070
a0001c0001t0008g0075
a0001c0001t0027g0134
a0001c0001t0003g0070
a0001c0001t0008g0075
a0001c0001t0027g0134
 3 HG02559.hp1
HG03130.hp2
HG03139.hp1
HG02559.hp1
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.578+3027_578+3046d
others(22): Show 
c.578+3027_578+3046delGGAAGGAAGGAAAGAAAGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662019
chr7:105662019 TTTCTTTC
others(17): Show 
TTTCTTTCTTTCCTTCCTTCCTTCC
 T
T
 2 a0001c0001t0021g0130
a0001c0001t0055g0252
a0001c0001t0021g0130
a0001c0001t0055g0252
 2 HG01884.hp1
NA19240.hp2
HG01884.hp1
NA19240.hp2
 intron_variant MODIFIER c.578+3023_578+3046d
others(26): Show 
c.578+3023_578+3046delGGAAGGAAGGAAGGAAAGAAAGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662019
chr7:105662019 TTTCTTTC
others(21): Show 
TTTCTTTCTTTCCTTCCTTCCTTCCTTCC
 T
T
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.578+3019_578+3046d
others(30): Show 
c.578+3019_578+3046delGGAAGGAAGGAAGGAAGGAAAGAAAGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662019
chr7:105662019 TTTCTTTC
others(25): Show 
TTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCC
 T
T
 1 a0001c0001t0060g0192
a0001c0001t0060g0192
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.578+3015_578+3046d
others(34): Show 
c.578+3015_578+3046delGGAAGGAAGGAAGGAAGGAAGGAAAGAA
AGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662019
chr7:105662023 T
T
 C
C
 8 a0001c0001t0001g0003
a0001c0001t0001g0119
a0001c0001t0004g0127
others(5): Show 
a0001c0001t0001g0003
a0001c0001t0001g0119
a0001c0001t0004g0127
a0001c0001t0005g0182
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0012g0244
a0002c0002t0059g0200
 8 HG00323.hp1
HG01168.hp1
HG01243.hp2
others(5): Show 
HG00323.hp1
HG01168.hp1
HG01243.hp2
HG02735.hp2
HG03041.hp1
HG03669.hp1
NA19074.hp2
NA20129.hp2
 intron_variant MODIFIER c.578+3043A>G
c.578+3043A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662023
chr7:105662023 TTTCTTTC
others(1): Show 
TTTCTTTCC
 T
T
 15 a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0179
others(12): Show 
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0003g0029
a0001c0001t0003g0090
a0001c0001t0006g0001
a0001c0001t0013g0156
a0001c0001t0018g0046
a0001c0001t0024g0250
a0001c0001t0037g0065
a0001c0001t0054g0087
a0001c0001t0061g0036
a0002c0002t0022g0066
a0003c0003t0020g0199
 15 HG00558.hp1
HG01099.hp2
HG01358.hp1
others(12): Show 
HG00558.hp1
HG01099.hp2
HG01358.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02280.hp1
HG02895.hp2
HG03225.hp1
NA18945.hp1
NA18954.hp2
NA18957.hp1
NA18995.hp2
NA19079.hp2
 intron_variant MODIFIER c.578+3035_578+3042d
others(10): Show 
c.578+3035_578+3042delGGAAAGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662023
chr7:105662023 TTTCTTTC
others(5): Show 
TTTCTTTCCTTCC
 T
T
 20 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0002g0021
others(17): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0002g0021
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0003g0100
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0009g0055
a0001c0001t0009g0141
a0001c0001t0013g0243
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0051g0035
a0006c0010t0031g0204
 20 HG01346.hp2
HG01515.hp1
HG01516.hp2
others(17): Show 
HG01346.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG02027.hp1
HG02155.hp2
HG02572.hp1
HG02630.hp1
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG03209.hp1
HG03579.hp2
NA18948.hp1
NA19066.hp2
NA19074.hp1
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19240.hp1
 intron_variant MODIFIER c.578+3031_578+3042d
others(14): Show 
c.578+3031_578+3042delGGAAGGAAAGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662023
chr7:105662023 TTTCTTTC
others(9): Show 
TTTCTTTCCTTCCTTCC
 T
T
 5 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0223
others(2): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0223
a0001c0001t0021g0227
a0001c0001t0027g0008
 5 HG02280.hp2
HG02451.hp2
HG02622.hp2
others(2): Show 
HG02280.hp2
HG02451.hp2
HG02622.hp2
HG03139.hp2
HG03516.hp1
 intron_variant MODIFIER c.578+3027_578+3042d
others(18): Show 
c.578+3027_578+3042delGGAAGGAAGGAAAGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662023
chr7:105662023 TTTCTTTC
others(17): Show 
TTTCTTTCCTTCCTTCCTTCCTTCC
 T
T
 1 a0001c0001t0004g0203
a0001c0001t0004g0203
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.578+3019_578+3042d
others(26): Show 
c.578+3019_578+3042delGGAAGGAAGGAAGGAAGGAAAGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662023
chr7:105662027 T
T
 C
C
 140 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(137): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0198
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
 140 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(137): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp2
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp2
HG03209.hp2
HG03239.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG06807.hp2
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+3039A>G
c.578+3039A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662027
chr7:105662027 T
T
 TTTCCTTC
others(5): Show 
TTTCCTTCCTTCC
 1 a0001c0001t0047g0121
a0001c0001t0047g0121
 1 HG01358.hp2
HG01358.hp2
 intron_variant MODIFIER c.578+3027_578+3038d
others(14): Show 
c.578+3027_578+3038dupGGAAGGAAGGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662027
chr7:105662027 T
T
 TTTCCTTC
others(9): Show 
TTTCCTTCCTTCCTTCC
 1 a0001c0001t0006g0168
a0001c0001t0006g0168
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.578+3023_578+3038d
others(18): Show 
c.578+3023_578+3038dupGGAAGGAAGGAAGGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662027
chr7:105662027 T
T
 TTTCCTTC
others(13): Show 
TTTCCTTCCTTCCTTCCTTCC
 1 a0001c0001t0001g0108
a0001c0001t0001g0108
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.578+3019_578+3038d
others(22): Show 
c.578+3019_578+3038dupGGAAGGAAGGAAGGAAGGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662027
chr7:105662046 CCTTCCTT
others(34): Show 
CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT
 C
C
 3 a0001c0001t0001g0085
a0001c0001t0002g0010
a0001c0001t0011g0101
a0001c0001t0001g0085
a0001c0001t0002g0010
a0001c0001t0011g0101
 3 HG01496.hp2
NA18945.hp2
NA18950.hp2
HG01496.hp2
NA18945.hp2
NA18950.hp2
 intron_variant MODIFIER c.578+2979_578+3019d
others(43): Show 
c.578+2979_578+3019delAGAAAGAAGGAAGGAAGGAAGGAAGGAA
GGAAGGAAGGAAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662046
chr7:105662047 C
C
 G
G
 9 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(6): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 9 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(6): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+3019G>C
c.578+3019G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662047
chr7:105662050 C
C
 T
T
 9 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(6): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 9 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(6): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+3016G>A
c.578+3016G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662050
chr7:105662050 CCTTCCTT
others(30): Show 
CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT
 C
C
 93 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(90): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0136
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
a0001c0001t0026g0234
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0032g0149
a0005c0011t0008g0092
 93 HG00323.hp2
HG00558.hp2
HG00642.hp2
others(90): Show 
HG00323.hp2
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01257.hp2
HG01433.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG03098.hp2
HG03239.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18948.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19086.hp1
NA19087.hp2
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.578+2979_578+3015d
others(39): Show 
c.578+2979_578+3015delAGAAAGAAGGAAGGAAGGAAGGAAGGAA
GGAAGGAAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662050
chr7:105662053 TCCTTCC
TCCTTCC
 T
T
 5 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
others(2): Show 
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0013g0236
a0001c0001t0014g0083
 5 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(2): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
 intron_variant MODIFIER c.578+3007_578+3012d
others(8): Show 
c.578+3007_578+3012delGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662053
chr7:105662053 TCCTTCCT
others(3): Show 
TCCTTCCTTCC
 T
T
 4 a0001c0001t0001g0082
a0001c0001t0011g0012
a0001c0001t0011g0157
others(1): Show 
a0001c0001t0001g0082
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
 4 HG02300.hp2
NA18970.hp1
NA19003.hp2
others(1): Show 
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+3003_578+3012d
others(12): Show 
c.578+3003_578+3012delGGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662053
chr7:105662054 CCTTCCTT
others(26): Show 
CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT
 C
C
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.578+2979_578+3011d
others(35): Show 
c.578+2979_578+3011delAGAAAGAAGGAAGGAAGGAAGGAAGGAA
GGAAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662054
chr7:105662062 CCTTCCTT
others(18): Show 
CCTTCCTTCCTTCCTTCCTTCTTTCT
 C
C
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.578+2979_578+3003d
others(27): Show 
c.578+2979_578+3003delAGAAAGAAGGAAGGAAGGAAGGAAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662062
chr7:105662063 C
C
 T
T
 5 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
others(2): Show 
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0013g0236
a0001c0001t0014g0083
 5 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(2): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
 intron_variant MODIFIER c.578+3003G>A
c.578+3003G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662063
chr7:105662063 CTTCCTTC
others(18): Show 
CTTCCTTCCTTCCTTCCTTCTTTCTT
 C
C
 1 a0001c0001t0017g0113
a0001c0001t0017g0113
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.578+2978_578+3002d
others(27): Show 
c.578+2978_578+3002delAAGAAAGAAGGAAGGAAGGAAGGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662063
chr7:105662066 C
C
 T
T
 5 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
others(2): Show 
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0013g0236
a0001c0001t0014g0083
 5 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(2): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
 intron_variant MODIFIER c.578+3000G>A
c.578+3000G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662066
chr7:105662067 C
C
 T
T
 4 a0001c0001t0001g0082
a0001c0001t0011g0012
a0001c0001t0011g0157
others(1): Show 
a0001c0001t0001g0082
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
 4 HG02300.hp2
NA18970.hp1
NA19003.hp2
others(1): Show 
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+2999G>A
c.578+2999G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662067
chr7:105662069 TCC
TCC
 T
T
 5 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
others(2): Show 
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0013g0236
a0001c0001t0014g0083
 5 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(2): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
 intron_variant MODIFIER c.578+2995_578+2996d
others(4): Show 
c.578+2995_578+2996delGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662069
chr7:105662070 C
C
 T
T
 4 a0001c0001t0001g0082
a0001c0001t0011g0012
a0001c0001t0011g0157
others(1): Show 
a0001c0001t0001g0082
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
 4 HG02300.hp2
NA18970.hp1
NA19003.hp2
others(1): Show 
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+2996G>A
c.578+2996G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662070
chr7:105662070 CCTTCCTT
others(10): Show 
CCTTCCTTCCTTCTTTCT
 C
C
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.578+2979_578+2995d
others(19): Show 
c.578+2979_578+2995delAGAAAGAAGGAAGGAAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662070
chr7:105662073 TCC
TCC
 T
T
 4 a0001c0001t0001g0082
a0001c0001t0011g0012
a0001c0001t0011g0157
others(1): Show 
a0001c0001t0001g0082
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
 4 HG02300.hp2
NA18970.hp1
NA19003.hp2
others(1): Show 
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+2991_578+2992d
others(4): Show 
c.578+2991_578+2992delGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662073
chr7:105662075 C
C
 T
T
 5 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
others(2): Show 
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0013g0236
a0001c0001t0014g0083
 5 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(2): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
 intron_variant MODIFIER c.578+2991G>A
c.578+2991G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662075
chr7:105662078 C
C
 T
T
 5 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
others(2): Show 
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0013g0236
a0001c0001t0014g0083
 5 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(2): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
 intron_variant MODIFIER c.578+2988G>A
c.578+2988G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662078
chr7:105662078 CCTT
CCTT
 C
C
 4 a0001c0001t0001g0082
a0001c0001t0011g0012
a0001c0001t0011g0157
others(1): Show 
a0001c0001t0001g0082
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
 4 HG02300.hp2
NA18970.hp1
NA19003.hp2
others(1): Show 
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+2985_578+2987d
others(5): Show 
c.578+2985_578+2987delAAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662078
chr7:105662079 C
C
 T
T
 1 a0001c0001t0060g0192
a0001c0001t0060g0192
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.578+2987G>A
c.578+2987G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662079
chr7:105662080 TTC
TTC
 T
T
 5 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
others(2): Show 
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0013g0236
a0001c0001t0014g0083
 5 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(2): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
 intron_variant MODIFIER c.578+2984_578+2985d
others(4): Show 
c.578+2984_578+2985delGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662080
chr7:105662082 C
C
 T
T
 4 a0001c0001t0001g0082
a0001c0001t0011g0012
a0001c0001t0011g0157
others(1): Show 
a0001c0001t0001g0082
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
 4 HG02300.hp2
NA18970.hp1
NA19003.hp2
others(1): Show 
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+2984G>A
c.578+2984G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662082
chr7:105662082 CTTTCT
CTTTCT
 C
C
 5 a0001c0001t0001g0185
a0001c0001t0003g0043
a0001c0001t0005g0182
others(2): Show 
a0001c0001t0001g0185
a0001c0001t0003g0043
a0001c0001t0005g0182
a0001c0001t0008g0089
a0001c0001t0023g0247
 5 HG00323.hp1
HG02132.hp2
HG02135.hp1
others(2): Show 
HG00323.hp1
HG02132.hp2
HG02135.hp1
HG02523.hp1
NA19009.hp2
 intron_variant MODIFIER c.578+2979_578+2983d
others(7): Show 
c.578+2979_578+2983delAGAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662082
chr7:105662083 T
T
 C
C
 5 a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0012g0244
others(2): Show 
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0012g0244
a0001c0001t0045g0190
a0006c0010t0031g0204
 5 HG01243.hp2
HG01891.hp2
HG03579.hp2
others(2): Show 
HG01243.hp2
HG01891.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp2
 intron_variant MODIFIER c.578+2983A>G
c.578+2983A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662083
chr7:105662087 T
T
 G
G
 2 a0001c0001t0045g0190
a0006c0010t0031g0204
a0001c0001t0045g0190
a0006c0010t0031g0204
 2 HG01891.hp2
HG03579.hp2
HG01891.hp2
HG03579.hp2
 intron_variant MODIFIER c.578+2979A>C
c.578+2979A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662087
chr7:105662092 T
T
 G
G
 1 a0001c0001t0017g0113
a0001c0001t0017g0113
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.578+2974A>C
c.578+2974A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662092
chr7:105662106 CT
CT
 C
C
 18 a0001c0001t0001g0119
a0001c0001t0001g0201
a0001c0001t0001g0205
others(15): Show 
a0001c0001t0001g0119
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0177
a0001c0001t0004g0084
a0001c0001t0007g0217
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0015g0193
a0001c0001t0017g0195
a0001c0001t0021g0184
a0001c0001t0025g0104
a0001c0001t0027g0008
a0001c0001t0044g0110
a0001c0001t0052g0133
a0002c0002t0022g0066
a0002c0002t0030g0208
 18 HG01069.hp2
HG01168.hp1
HG01243.hp1
others(15): Show 
HG01069.hp2
HG01168.hp1
HG01243.hp1
HG01515.hp1
HG01516.hp1
HG02280.hp2
HG02451.hp2
HG02647.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
NA18948.hp1
NA19240.hp1
 intron_variant MODIFIER c.578+2959delA
c.578+2959delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662106
chr7:105662111 T
T
 C
C
 12 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(9): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
 12 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(9): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG01891.hp2
HG02015.hp1
HG02300.hp2
HG03209.hp2
HG03579.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+2955A>G
c.578+2955A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662111
chr7:105662187 C
C
 G
G
 12 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(9): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
 12 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(9): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG01891.hp2
HG02015.hp1
HG02300.hp2
HG03209.hp2
HG03579.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+2879G>C
c.578+2879G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662187
chr7:105662259 C
C
 T
T
 1 a0001c0001t0024g0077
a0001c0001t0024g0077
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.578+2807G>A
c.578+2807G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662259
chr7:105662394 G
G
 A
A
 1 a0001c0001t0017g0213
a0001c0001t0017g0213
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.578+2672C>T
c.578+2672C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662394
chr7:105662444 G
G
 A
A
 2 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0205
a0001c0001t0001g0222
 2 HG02280.hp2
HG02451.hp2
HG02280.hp2
HG02451.hp2
 intron_variant MODIFIER c.578+2622C>T
c.578+2622C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662444
chr7:105662542 C
C
 T
T
 31 a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
others(28): Show 
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0008g0073
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0013g0243
a0001c0001t0018g0046
a0001c0001t0023g0183
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0054g0087
a0003c0003t0020g0199
 31 HG01168.hp2
HG01169.hp1
HG01358.hp1
others(28): Show 
HG01168.hp2
HG01169.hp1
HG01358.hp1
HG01515.hp1
HG01934.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02280.hp1
HG03942.hp2
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18989.hp2
NA18995.hp2
NA19010.hp1
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.578+2524G>A
c.578+2524G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105662542
chr7:105663136 C
C
 T
T
 2 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0205
a0001c0001t0001g0222
 2 HG02280.hp2
HG02451.hp2
HG02280.hp2
HG02451.hp2
 intron_variant MODIFIER c.578+1930G>A
c.578+1930G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105663136
chr7:105663147 C
C
 T
T
 9 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(6): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 9 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(6): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+1919G>A
c.578+1919G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105663147
chr7:105663293 G
G
 A
A
 1 a0001c0001t0046g0138
a0001c0001t0046g0138
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.578+1773C>T
c.578+1773C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105663293
chr7:105663323 C
C
 T
T
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.578+1743G>A
c.578+1743G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105663323
chr7:105663548 A
A
 T
T
 3 a0001c0001t0001g0181
a0001c0001t0021g0130
a0001c0001t0055g0252
a0001c0001t0001g0181
a0001c0001t0021g0130
a0001c0001t0055g0252
 3 HG01884.hp1
HG02818.hp1
NA19240.hp2
HG01884.hp1
HG02818.hp1
NA19240.hp2
 intron_variant MODIFIER c.578+1518T>A
c.578+1518T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105663548
chr7:105663743 AAATGAAT
others(12): Show 
AAATGAATTAAAAGCCTCAG
 A
A
 7 a0001c0001t0003g0070
a0001c0001t0007g0144
a0001c0001t0008g0075
others(4): Show 
a0001c0001t0003g0070
a0001c0001t0007g0144
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0027g0134
a0001c0001t0053g0031
a0007c0009t0007g0096
 7 HG01884.hp2
HG02559.hp1
HG02630.hp2
others(4): Show 
HG01884.hp2
HG02559.hp1
HG02630.hp2
HG02647.hp1
HG03130.hp2
HG03139.hp1
NA20129.hp2
 intron_variant MODIFIER c.578+1304_578+1322d
others(21): Show 
c.578+1304_578+1322delCTGAGGCTTTTAATTCATT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105663743
chr7:105663779 T
T
 G
G
 3 a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
 3 HG01891.hp2
HG03209.hp2
HG03579.hp2
HG01891.hp2
HG03209.hp2
HG03579.hp2
 intron_variant MODIFIER c.578+1287A>C
c.578+1287A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105663779
chr7:105663801 C
C
 T
T
 182 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(179): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 182 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(179): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.578+1265G>A
c.578+1265G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105663801
chr7:105663840 G
G
 A
A
 3 a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
 3 HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
 intron_variant MODIFIER c.578+1226C>T
c.578+1226C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105663840
chr7:105663966 C
C
 T
T
 1 a0001c0005t0007g0209
a0001c0005t0007g0209
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.578+1100G>A
c.578+1100G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105663966
chr7:105663967 G
G
 A
A
 2 a0001c0001t0004g0084
a0001c0001t0033g0040
a0001c0001t0004g0084
a0001c0001t0033g0040
 2 HG01069.hp2
HG01081.hp2
HG01069.hp2
HG01081.hp2
 intron_variant MODIFIER c.578+1099C>T
c.578+1099C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105663967
chr7:105664060 A
A
 T
T
 1 a0001c0001t0034g0068
a0001c0001t0034g0068
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.578+1006T>A
c.578+1006T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664060
chr7:105664487 CATATATG
others(4): Show 
CATATATGTATA
 C
C
 61 a0001c0001t0001g0082
a0001c0001t0001g0205
a0001c0001t0001g0214
others(58): Show 
a0001c0001t0001g0082
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0014g0083
a0001c0001t0016g0069
a0001c0001t0017g0113
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0051g0035
a0001c0001t0054g0087
a0002c0002t0030g0212
a0003c0003t0020g0199
a0006c0010t0031g0204
 61 HG00280.hp2
HG00558.hp1
HG00642.hp1
others(58): Show 
HG00280.hp2
HG00558.hp1
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG01168.hp2
HG01169.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01891.hp2
HG01934.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02895.hp1
HG03130.hp1
HG03209.hp2
HG03471.hp2
HG03516.hp1
HG03579.hp2
HG03942.hp2
HG06807.hp1
NA18747.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp2
NA18970.hp1
NA18989.hp2
NA18995.hp2
NA19003.hp2
NA19010.hp1
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
 intron_variant MODIFIER c.578+568_578+578del
others(11): Show 
c.578+568_578+578delTATACATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664487
chr7:105664498 A
A
 AATATATG
others(29): Show 
AATATATGTATAATATATATATACATATGTATAATAT
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.578+532_578+567dup
others(36): Show 
c.578+532_578+567dupATATTATACATATGTATATATATATTATAC
ATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664498
chr7:105664509 A
A
 AAT
AAT
 5 a0001c0001t0001g0145
a0001c0001t0006g0117
a0001c0001t0010g0228
others(2): Show 
a0001c0001t0001g0145
a0001c0001t0006g0117
a0001c0001t0010g0228
a0001c0001t0029g0215
a0002c0002t0032g0149
 5 HG02451.hp1
HG02818.hp2
HG02896.hp1
others(2): Show 
HG02451.hp1
HG02818.hp2
HG02896.hp1
HG03540.hp1
NA19030.hp1
 intron_variant MODIFIER c.578+555_578+556dup
others(2): Show 
c.578+555_578+556dupAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664509
chr7:105664563 A
A
 G
G
 2 a0001c0001t0001g0214
a0001c0001t0005g0206
a0001c0001t0001g0214
a0001c0001t0005g0206
 2 HG02055.hp2
HG06807.hp1
HG02055.hp2
HG06807.hp1
 intron_variant MODIFIER c.578+503T>C
c.578+503T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664563
chr7:105664567 A
A
 G
G
 49 a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
others(46): Show 
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0013g0243
a0001c0001t0016g0069
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0051g0035
a0001c0001t0054g0087
a0002c0002t0030g0212
a0003c0003t0020g0199
 49 HG00558.hp1
HG01168.hp2
HG01169.hp1
others(46): Show 
HG00558.hp1
HG01168.hp2
HG01169.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01934.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02895.hp1
HG03130.hp1
HG03471.hp2
HG03516.hp1
HG03942.hp2
HG06807.hp1
NA18747.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp2
NA18989.hp2
NA18995.hp2
NA19010.hp1
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
 intron_variant MODIFIER c.578+499T>C
c.578+499T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664567
chr7:105664575 G
G
 GTGTATGT
others(47): Show 
GTGTATGTATGTATATGTATATATATATATATATATATATATATATATAT
ATATA
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.578+490_578+491ins
others(54): Show 
c.578+490_578+491insTATATATATATATATATATATATATATATA
TATATATACATATACATACATACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTATGT
others(31): Show 
GTGTATGTGTGTATATATATATATATATATATATATATA
 1 a0001c0001t0001g0214
a0001c0001t0001g0214
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.578+490_578+491ins
others(38): Show 
c.578+490_578+491insTATATATATATATATATATATATATATACA
CACATACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTAT
others(27): Show 
GTGTGTATGTGTATATATATATATATATATATATA
 1 a0001c0001t0034g0068
a0001c0001t0034g0068
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.578+490_578+491ins
others(34): Show 
c.578+490_578+491insTATATATATATATATATATATATACACATA
CACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(5): Show 
GTGTGTGTATATA
 3 a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
 3 HG01891.hp2
HG03209.hp2
HG03579.hp2
HG01891.hp2
HG03209.hp2
HG03579.hp2
 intron_variant MODIFIER c.578+490_578+491ins
others(12): Show 
c.578+490_578+491insTATATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(7): Show 
GTGTGTGTATATATA
 9 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(6): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 9 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(6): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.578+490_578+491ins
others(14): Show 
c.578+490_578+491insTATATATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(9): Show 
GTGTGTGTATATATATA
 4 a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0007g0223
others(1): Show 
a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
 4 HG02622.hp1
HG02622.hp2
HG02895.hp1
others(1): Show 
HG02622.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
 intron_variant MODIFIER c.578+490_578+491ins
others(16): Show 
c.578+490_578+491insTATATATATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(35): Show 
GTGTGTGTATGTGTGTATATATATATATATATATATATATATA
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.578+490_578+491ins
others(42): Show 
c.578+490_578+491insTATATATATATATATATATATATATATACA
CACATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(37): Show 
GTGTGTGTATGTGTGTATATATATATATATATATATATATATATA
 1 a0001c0001t0016g0069
a0001c0001t0016g0069
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.578+490_578+491ins
others(44): Show 
c.578+490_578+491insTATATATATATATATATATATATATATATA
CACACATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(39): Show 
GTGTGTGTATGTGTGTATATATATATATATATATATATATATATATA
 1 a0001c0001t0051g0035
a0001c0001t0051g0035
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.578+490_578+491ins
others(46): Show 
c.578+490_578+491insTATATATATATATATATATATATATATATA
TACACACATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(41): Show 
GTGTGTGTATGTGTGTATATATATATATATATATATATATATATATATA
 4 a0001c0001t0003g0090
a0001c0001t0008g0015
a0001c0001t0043g0105
others(1): Show 
a0001c0001t0003g0090
a0001c0001t0008g0015
a0001c0001t0043g0105
a0002c0002t0030g0212
 4 HG00558.hp1
HG02083.hp2
HG03471.hp2
others(1): Show 
HG00558.hp1
HG02083.hp2
HG03471.hp2
NA18962.hp2
 intron_variant MODIFIER c.578+490_578+491ins
others(48): Show 
c.578+490_578+491insTATATATATATATATATATATATATATATA
TATACACACATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(43): Show 
GTGTGTGTATGTGTGTATATATATATATATATATATATATATATATATAT
A
 1 a0001c0001t0018g0131
a0001c0001t0018g0131
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.578+490_578+491ins
others(50): Show 
c.578+490_578+491insTATATATATATATATATATATATATATATA
TATATACACACATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(45): Show 
GTGTGTGTATGTGTGTATATATATATATATATATATATATATATATATAT
ATA
 1 a0001c0001t0002g0142
a0001c0001t0002g0142
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.578+490_578+491ins
others(52): Show 
c.578+490_578+491insTATATATATATATATATATATATATATATA
TATATATACACACATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(33): Show 
GTGTGTGTATGTGTGTGTATATATATATATATATATATATA
 1 a0001c0001t0011g0170
a0001c0001t0011g0170
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.578+490_578+491ins
others(40): Show 
c.578+490_578+491insTATATATATATATATATATATATACACACA
CATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(35): Show 
GTGTGTGTATGTGTGTGTATATATATATATATATATATATATA
 6 a0001c0001t0002g0177
a0001c0001t0006g0001
a0001c0001t0009g0141
others(3): Show 
a0001c0001t0002g0177
a0001c0001t0006g0001
a0001c0001t0009g0141
a0001c0001t0023g0183
a0001c0001t0037g0065
a0003c0003t0020g0199
 6 HG01358.hp1
HG02027.hp1
HG02056.hp2
others(3): Show 
HG01358.hp1
HG02027.hp1
HG02056.hp2
HG02280.hp1
NA18948.hp1
NA19074.hp1
 intron_variant MODIFIER c.578+490_578+491ins
others(42): Show 
c.578+490_578+491insTATATATATATATATATATATATATACACA
CACATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(37): Show 
GTGTGTGTATGTGTGTGTATATATATATATATATATATATATATA
 14 a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0056
others(11): Show 
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0004g0023
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0018g0046
a0001c0001t0054g0087
 14 HG02027.hp2
HG02071.hp1
HG03942.hp2
others(11): Show 
HG02027.hp2
HG02071.hp1
HG03942.hp2
NA18943.hp2
NA18945.hp1
NA18954.hp2
NA18957.hp1
NA18989.hp2
NA18995.hp2
NA19056.hp1
NA19066.hp2
NA19086.hp2
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.578+490_578+491ins
others(44): Show 
c.578+490_578+491insTATATATATATATATATATATATATATACA
CACACATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(39): Show 
GTGTGTGTATGTGTGTGTATATATATATATATATATATATATATATA
 3 a0001c0001t0002g0049
a0001c0001t0002g0167
a0001c0001t0013g0243
a0001c0001t0002g0049
a0001c0001t0002g0167
a0001c0001t0013g0243
 3 HG01515.hp1
NA19079.hp2
NA19088.hp1
HG01515.hp1
NA19079.hp2
NA19088.hp1
 intron_variant MODIFIER c.578+490_578+491ins
others(46): Show 
c.578+490_578+491insTATATATATATATATATATATATATATATA
CACACACATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(41): Show 
GTGTGTGTATGTGTGTGTATATATATATATATATATATATATATATATA
 1 a0001c0001t0003g0100
a0001c0001t0003g0100
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.578+490_578+491ins
others(48): Show 
c.578+490_578+491insTATATATATATATATATATATATATATATA
TACACACACATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(43): Show 
GTGTGTGTATGTGTGTGTATATATATATATATATATATATATATATATAT
A
 3 a0001c0001t0002g0021
a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0002g0021
a0001c0001t0008g0073
a0001c0001t0012g0028
 3 HG01168.hp2
HG01169.hp1
NA19085.hp1
HG01168.hp2
HG01169.hp1
NA19085.hp1
 intron_variant MODIFIER c.578+490_578+491ins
others(50): Show 
c.578+490_578+491insTATATATATATATATATATATATATATATA
TATACACACACATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(45): Show 
GTGTGTGTATGTGTGTGTATATATATATATATATATATATATATATATAT
ATA
 1 a0001c0001t0005g0025
a0001c0001t0005g0025
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.578+490_578+491ins
others(52): Show 
c.578+490_578+491insTATATATATATATATATATATATATATATA
TATATACACACACATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(47): Show 
GTGTGTGTATGTGTGTGTATATATATATATATATATATATATATATATAT
ATATA
 1 a0001c0001t0005g0027
a0001c0001t0005g0027
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.578+490_578+491ins
others(54): Show 
c.578+490_578+491insTATATATATATATATATATATATATATATA
TATATATACACACACATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(37): Show 
GTGTGTGTATGTGTGTGTGTATATATATATATATATATATATATA
 1 a0001c0001t0042g0161
a0001c0001t0042g0161
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.578+490_578+491ins
others(44): Show 
c.578+490_578+491insTATATATATATATATATATATATATACACA
CACACATACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(35): Show 
GTGTGTGTGTGTATATATATATATATATATATATATATATATA
 1 a0001c0001t0001g0205
a0001c0001t0001g0205
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.578+490_578+491ins
others(42): Show 
c.578+490_578+491insTATATATATATATATATATATATATATATA
TACACACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664575 G
G
 GTGTGTGT
others(39): Show 
GTGTGTGTGTGTATATATATATATATATATATATATATATATATATA
 1 a0001c0001t0001g0222
a0001c0001t0001g0222
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.578+490_578+491ins
others(46): Show 
c.578+490_578+491insTATATATATATATATATATATATATATATA
TATATACACACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664575
chr7:105664604 A
A
 G
G
 61 a0001c0001t0001g0082
a0001c0001t0001g0205
a0001c0001t0001g0214
others(58): Show 
a0001c0001t0001g0082
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0014g0083
a0001c0001t0016g0069
a0001c0001t0017g0113
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0051g0035
a0001c0001t0054g0087
a0002c0002t0030g0212
a0003c0003t0020g0199
a0006c0010t0031g0204
 61 HG00280.hp2
HG00558.hp1
HG00642.hp1
others(58): Show 
HG00280.hp2
HG00558.hp1
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG01168.hp2
HG01169.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01891.hp2
HG01934.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02895.hp1
HG03130.hp1
HG03209.hp2
HG03471.hp2
HG03516.hp1
HG03579.hp2
HG03942.hp2
HG06807.hp1
NA18747.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp2
NA18970.hp1
NA18989.hp2
NA18995.hp2
NA19003.hp2
NA19010.hp1
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
 intron_variant MODIFIER c.578+462T>C
c.578+462T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664604
chr7:105664973 A
A
 G
G
 4 a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0007g0223
others(1): Show 
a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
 4 HG02622.hp1
HG02622.hp2
HG02895.hp1
others(1): Show 
HG02622.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
 intron_variant MODIFIER c.578+93T>C
c.578+93T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664973
chr7:105664999 A
A
 G
G
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.578+67T>C
c.578+67T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 4/11 chr7 105664999
chr7:105665822 T
T
 C
C
 2 a0001c0001t0007g0217
a0001c0001t0021g0184
a0001c0001t0007g0217
a0001c0001t0021g0184
 2 HG02965.hp2
NA19240.hp1
HG02965.hp2
NA19240.hp1
 intron_variant MODIFIER c.356-534A>G
c.356-534A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105665822
chr7:105665989 C
C
 T
T
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.356-701G>A
c.356-701G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105665989
chr7:105666021 G
G
 A
A
 6 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(3): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0006g0197
a0001c0001t0016g0139
a0001c0001t0018g0058
 6 HG02559.hp2
HG02572.hp2
HG03579.hp1
others(3): Show 
HG02559.hp2
HG02572.hp2
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-733C>T
c.356-733C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105666021
chr7:105666073 G
G
 C
C
 216 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(213): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 216 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(213): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-785C>G
c.356-785C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105666073
chr7:105666109 G
G
 A
A
 123 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0082
others(120): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0006c0010t0031g0204
a0007c0009t0007g0096
 123 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(120): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00642.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp2
NA18970.hp1
NA18989.hp2
NA18995.hp2
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-821C>T
c.356-821C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105666109
chr7:105666122 T
T
 C
C
 6 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(3): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0006g0197
a0001c0001t0016g0139
a0001c0001t0018g0058
 6 HG02559.hp2
HG02572.hp2
HG03579.hp1
others(3): Show 
HG02559.hp2
HG02572.hp2
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-834A>G
c.356-834A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105666122
chr7:105666665 G
G
 T
T
 1 a0001c0001t0017g0213
a0001c0001t0017g0213
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.356-1377C>A
c.356-1377C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105666665
chr7:105666674 C
C
 T
T
 227 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(224): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 227 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(224): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-1386G>A
c.356-1386G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105666674
chr7:105666754 C
C
 T
T
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-1466G>A
c.356-1466G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105666754
chr7:105667089 A
A
 T
T
 93 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(90): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0142
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0064g0098
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0006c0010t0031g0204
a0007c0009t0007g0096
 93 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(90): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18957.hp2
NA18962.hp2
NA18994.hp1
NA19003.hp1
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19074.hp2
NA19079.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-1801T>A
c.356-1801T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667089
chr7:105667170 C
C
 G
G
 20 a0001c0001t0001g0185
a0001c0001t0002g0239
a0001c0001t0002g0245
others(17): Show 
a0001c0001t0001g0185
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0004g0084
a0001c0001t0004g0198
a0001c0001t0005g0182
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0014g0166
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0033g0040
a0001c0001t0057g0229
a0003c0003t0005g0079
a0004c0013t0036g0107
 20 HG00280.hp1
HG00323.hp1
HG00735.hp1
others(17): Show 
HG00280.hp1
HG00323.hp1
HG00735.hp1
HG01069.hp2
HG01081.hp2
HG01109.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp1
HG01934.hp1
HG01981.hp2
HG02132.hp2
HG02135.hp1
HG02523.hp1
HG03239.hp2
HG04199.hp1
HG06807.hp2
NA19009.hp2
NA19074.hp2
NA19079.hp1
 intron_variant MODIFIER c.356-1882G>C
c.356-1882G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667170
chr7:105667190 G
G
 T
T
 2 a0001c0001t0002g0160
a0001c0001t0006g0034
a0001c0001t0002g0160
a0001c0001t0006g0034
 2 NA18962.hp1
NA19060.hp2
NA18962.hp1
NA19060.hp2
 intron_variant MODIFIER c.356-1902C>A
c.356-1902C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667190
chr7:105667268 G
G
 A
A
 99 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(96): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0142
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0064g0098
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0006c0010t0031g0204
a0007c0009t0007g0096
 99 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(96): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18957.hp2
NA18962.hp2
NA18994.hp1
NA19003.hp1
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19074.hp2
NA19079.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-1980C>T
c.356-1980C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667268
chr7:105667352 G
G
 A
A
 4 a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0007g0223
others(1): Show 
a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
 4 HG02622.hp1
HG02622.hp2
HG02895.hp1
others(1): Show 
HG02622.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
 intron_variant MODIFIER c.356-2064C>T
c.356-2064C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667352
chr7:105667395 C
C
 G
G
 9 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(6): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0005g0126
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 9 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(6): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02015.hp1
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.356-2107G>C
c.356-2107G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667395
chr7:105667403 TAAAAGTC
others(308): Show 
TAAAAGTCAACTAGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC
ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA
TCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA
GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG
GCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGAT
CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA
AAAAAAAAAAAAAAAA
 T
T
 95 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(92): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0032g0149
a0005c0011t0008g0092
 95 HG00280.hp2
HG00323.hp2
HG00558.hp2
others(92): Show 
HG00280.hp2
HG00323.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01257.hp2
HG01433.hp2
HG01496.hp2
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG03098.hp2
HG03239.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19085.hp2
NA19086.hp1
NA19087.hp2
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.356-2430_356-2116d
others(2): Show 
c.356-2430_356-2116del
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667403
chr7:105667421 C
C
 T
T
 3 a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0009g0055
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0009g0055
 3 NA19066.hp2
NA19079.hp2
NA19086.hp2
NA19066.hp2
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.356-2133G>A
c.356-2133G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667421
chr7:105667453 A
A
 G
G
 1 a0001c0001t0034g0068
a0001c0001t0034g0068
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.356-2165T>C
c.356-2165T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667453
chr7:105667465 C
C
 T
T
 59 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0119
others(56): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0198
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 59 HG00280.hp1
HG00323.hp1
HG00735.hp1
others(56): Show 
HG00280.hp1
HG00323.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01168.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03669.hp1
HG03688.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA19009.hp2
NA19043.hp2
NA19074.hp2
NA19079.hp1
NA19240.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-2177G>A
c.356-2177G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667465
chr7:105667562 A
A
 G
G
 1 a0001c0001t0012g0244
a0001c0001t0012g0244
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.356-2274T>C
c.356-2274T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667562
chr7:105667640 G
G
 A
A
 64 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0119
others(61): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 64 HG00280.hp1
HG00323.hp1
HG00735.hp1
others(61): Show 
HG00280.hp1
HG00323.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01168.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03669.hp1
HG03688.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA19009.hp2
NA19043.hp2
NA19074.hp2
NA19079.hp1
NA19240.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-2352C>T
c.356-2352C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667640
chr7:105667650 G
G
 T
T
 4 a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
others(1): Show 
a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0019g0062
 4 HG00741.hp2
HG01256.hp2
HG01258.hp2
others(1): Show 
HG00741.hp2
HG01256.hp2
HG01258.hp2
HG01496.hp1
 intron_variant MODIFIER c.356-2362C>A
c.356-2362C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667650
chr7:105667656 G
G
 A
A
 20 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0201
others(17): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0201
a0001c0001t0006g0067
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0021g0184
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0061g0036
a0002c0002t0022g0066
a0002c0002t0033g0221
 20 HG01099.hp2
HG01167.hp1
HG01175.hp2
others(17): Show 
HG01099.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp1
HG01516.hp2
HG01517.hp1
HG02056.hp1
HG02630.hp1
HG02647.hp2
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.356-2368C>T
c.356-2368C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667656
chr7:105667677 C
C
 T
T
 1 a0002c0002t0033g0221
a0002c0002t0033g0221
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.356-2389G>A
c.356-2389G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667677
chr7:105667698 CA
CA
 C
C
 63 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0119
others(60): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0177
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0023g0247
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0002c0002t0032g0226
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 63 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(60): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01168.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03669.hp1
HG03688.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18948.hp1
NA18957.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19074.hp2
NA19079.hp1
NA19240.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-2411delT
c.356-2411delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667698
chr7:105667763 T
T
 C
C
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-2475A>G
c.356-2475A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105667763
chr7:105668192 C
C
 T
T
 1 a0001c0001t0013g0243
a0001c0001t0013g0243
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.356-2904G>A
c.356-2904G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105668192
chr7:105668193 G
G
 A
A
 20 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0201
others(17): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0201
a0001c0001t0006g0067
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0021g0184
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0061g0036
a0002c0002t0022g0066
a0002c0002t0033g0221
 20 HG01099.hp2
HG01167.hp1
HG01175.hp2
others(17): Show 
HG01099.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp1
HG01516.hp2
HG01517.hp1
HG02056.hp1
HG02630.hp1
HG02647.hp2
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.356-2905C>T
c.356-2905C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105668193
chr7:105668297 G
G
 A
A
 1 a0001c0001t0017g0213
a0001c0001t0017g0213
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.356-3009C>T
c.356-3009C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105668297
chr7:105668419 A
A
 G
G
 1 a0001c0001t0001g0003
a0001c0001t0001g0003
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.356-3131T>C
c.356-3131T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105668419
chr7:105668578 C
C
 T
T
 197 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(194): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 197 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(194): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-3290G>A
c.356-3290G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105668578
chr7:105668788 T
T
 C
C
 206 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(203): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 206 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(203): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-3500A>G
c.356-3500A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105668788
chr7:105668919 A
A
 T
T
 2 a0001c0001t0014g0083
a0001c0001t0028g0114
a0001c0001t0014g0083
a0001c0001t0028g0114
 2 HG00280.hp2
NA19043.hp1
HG00280.hp2
NA19043.hp1
 intron_variant MODIFIER c.356-3631T>A
c.356-3631T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105668919
chr7:105668920 T
T
 TA
TA
 7 a0001c0001t0003g0235
a0001c0001t0004g0203
a0001c0001t0013g0241
others(4): Show 
a0001c0001t0003g0235
a0001c0001t0004g0203
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0019g0062
a0001c0001t0021g0227
a0001c0001t0025g0240
 7 HG00741.hp2
HG01256.hp2
HG01258.hp2
others(4): Show 
HG00741.hp2
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG02622.hp1
HG02622.hp2
HG03490.hp1
 intron_variant MODIFIER c.356-3633_356-3632i
others(3): Show 
c.356-3633_356-3632insT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105668920
chr7:105668921 T
T
 A
A
 22 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0201
others(19): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0201
a0001c0001t0003g0050
a0001c0001t0005g0206
a0001c0001t0006g0067
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0021g0184
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0061g0036
a0002c0002t0022g0066
a0002c0002t0033g0221
 22 HG01099.hp2
HG01167.hp1
HG01175.hp2
others(19): Show 
HG01099.hp2
HG01167.hp1
HG01175.hp2
HG01243.hp1
HG01516.hp2
HG01517.hp1
HG02055.hp2
HG02056.hp1
HG02630.hp1
HG02647.hp2
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
NA19068.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.356-3633A>T
c.356-3633A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105668921
chr7:105668941 G
G
 A
A
 2 a0001c0001t0029g0072
a0001c0001t0058g0018
a0001c0001t0029g0072
a0001c0001t0058g0018
 2 HG02738.hp2
HG03831.hp1
HG02738.hp2
HG03831.hp1
 intron_variant MODIFIER c.356-3653C>T
c.356-3653C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105668941
chr7:105668950 T
T
 C
C
 1 a0001c0001t0003g0011
a0001c0001t0003g0011
 1 NA18943.hp1
NA18943.hp1
 intron_variant MODIFIER c.356-3662A>G
c.356-3662A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105668950
chr7:105668984 G
G
 C
C
 1 a0001c0001t0004g0039
a0001c0001t0004g0039
 1 NA19086.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-3696C>G
c.356-3696C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105668984
chr7:105669211 A
A
 C
C
 2 a0001c0001t0041g0196
a0001c0005t0007g0209
a0001c0001t0041g0196
a0001c0005t0007g0209
 2 HG01891.hp1
NA19030.hp2
HG01891.hp1
NA19030.hp2
 intron_variant MODIFIER c.356-3923T>G
c.356-3923T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105669211
chr7:105669256 A
A
 G
G
 3 a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
 3 HG01891.hp2
HG03209.hp2
HG03579.hp2
HG01891.hp2
HG03209.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-3968T>C
c.356-3968T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105669256
chr7:105669318 G
G
 A
A
 4 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(1): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0013g0236
 4 HG00642.hp1
HG00738.hp1
HG01081.hp1
others(1): Show 
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02300.hp2
 intron_variant MODIFIER c.356-4030C>T
c.356-4030C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105669318
chr7:105669344 G
G
 A
A
 3 a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
a0001c0001t0017g0113
a0001c0001t0045g0190
a0006c0010t0031g0204
 3 HG01891.hp2
HG03209.hp2
HG03579.hp2
HG01891.hp2
HG03209.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-4056C>T
c.356-4056C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105669344
chr7:105669599 C
C
 G
G
 1 a0001c0001t0012g0232
a0001c0001t0012g0232
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.356-4311G>C
c.356-4311G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105669599
chr7:105669637 T
T
 A
A
 44 a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
others(41): Show 
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0013g0243
a0001c0001t0016g0069
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0023g0183
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0051g0035
a0001c0001t0054g0087
a0002c0002t0030g0212
a0003c0003t0020g0199
 44 HG00558.hp1
HG01168.hp2
HG01169.hp1
others(41): Show 
HG00558.hp1
HG01168.hp2
HG01169.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01934.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02723.hp1
HG03130.hp1
HG03471.hp2
HG03942.hp2
HG06807.hp1
NA18747.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp2
NA18989.hp2
NA18995.hp2
NA19010.hp1
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
 intron_variant MODIFIER c.356-4349A>T
c.356-4349A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105669637
chr7:105669682 G
G
 A
A
 1 a0001c0001t0001g0003
a0001c0001t0001g0003
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.356-4394C>T
c.356-4394C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105669682
chr7:105669832 C
C
 T
T
 203 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(200): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 203 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(200): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-4544G>A
c.356-4544G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105669832
chr7:105669919 C
C
 CA
CA
 11 a0001c0001t0003g0011
a0001c0001t0003g0171
a0001c0001t0005g0206
others(8): Show 
a0001c0001t0003g0011
a0001c0001t0003g0171
a0001c0001t0005g0206
a0001c0001t0017g0194
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0034g0068
a0001c0001t0048g0132
a0001c0001t0063g0041
a0002c0002t0022g0220
a0002c0002t0059g0200
 11 HG01074.hp1
HG01109.hp1
HG02055.hp2
others(8): Show 
HG01074.hp1
HG01109.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp2
HG02300.hp1
HG02523.hp2
HG02572.hp1
HG02723.hp2
HG03041.hp1
NA18943.hp1
 intron_variant MODIFIER c.356-4632dupT
c.356-4632dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105669919
chr7:105669919 CA
CA
 C
C
 64 a0001c0001t0001g0005
a0001c0001t0001g0074
a0001c0001t0001g0078
others(61): Show 
a0001c0001t0001g0005
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0006g0197
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0020g0120
a0001c0001t0023g0183
a0001c0001t0026g0234
a0001c0001t0028g0037
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0064g0098
a0002c0002t0030g0212
a0003c0003t0020g0199
 64 HG00558.hp1
HG01168.hp2
HG01169.hp1
others(61): Show 
HG00558.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG01934.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp2
HG02148.hp2
HG02155.hp2
HG02280.hp1
HG02559.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG02896.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03579.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19010.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-4632delT
c.356-4632delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105669919
chr7:105670038 T
T
 C
C
 6 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(3): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0006g0197
a0001c0001t0016g0139
a0001c0001t0018g0058
 6 HG02559.hp2
HG02572.hp2
HG03579.hp1
others(3): Show 
HG02559.hp2
HG02572.hp2
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-4750A>G
c.356-4750A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105670038
chr7:105670090 T
T
 C
C
 4 a0001c0001t0001g0059
a0001c0001t0003g0150
a0001c0001t0014g0237
others(1): Show 
a0001c0001t0001g0059
a0001c0001t0003g0150
a0001c0001t0014g0237
a0001c0001t0015g0060
 4 HG00323.hp2
HG00642.hp2
HG01069.hp1
others(1): Show 
HG00323.hp2
HG00642.hp2
HG01069.hp1
HG01175.hp1
 intron_variant MODIFIER c.356-4802A>G
c.356-4802A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105670090
chr7:105670133 G
G
 A
A
 1 a0001c0001t0004g0135
a0001c0001t0004g0135
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.356-4845C>T
c.356-4845C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105670133
chr7:105670146 C
C
 T
T
 53 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0119
others(50): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0027g0134
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0059g0200
a0007c0009t0007g0096
 53 HG00323.hp1
HG00741.hp2
HG01069.hp2
others(50): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01168.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03669.hp1
HG03688.hp1
HG04199.hp1
HG04199.hp2
NA19009.hp2
NA19043.hp2
NA19074.hp2
NA19079.hp1
NA19240.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-4858G>A
c.356-4858G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105670146
chr7:105670315 G
G
 T
T
 1 a0001c0001t0031g0172
a0001c0001t0031g0172
 1 HG01257.hp2
HG01257.hp2
 intron_variant MODIFIER c.356-5027C>A
c.356-5027C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105670315
chr7:105670334 C
C
 T
T
 3 a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0009g0055
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0009g0055
 3 NA19066.hp2
NA19079.hp2
NA19086.hp2
NA19066.hp2
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.356-5046G>A
c.356-5046G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105670334
chr7:105670376 T
T
 C
C
 1 a0001c0001t0039g0180
a0001c0001t0039g0180
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.356-5088A>G
c.356-5088A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105670376
chr7:105670661 T
T
 TA
TA
 80 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0082
others(77): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0142
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0006c0010t0031g0204
a0007c0009t0007g0096
 80 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(77): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01168.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18747.hp1
NA18962.hp2
NA18970.hp1
NA19003.hp2
NA19009.hp2
NA19043.hp2
NA19074.hp2
NA19079.hp1
NA19085.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-5374dupT
c.356-5374dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105670661
chr7:105670833 G
G
 A
A
 1 a0001c0001t0009g0141
a0001c0001t0009g0141
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.356-5545C>T
c.356-5545C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105670833
chr7:105670866 G
G
 A
A
 1 a0001c0001t0010g0228
a0001c0001t0010g0228
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.356-5578C>T
c.356-5578C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105670866
chr7:105671052 A
A
 G
G
 1 a0001c0001t0001g0106
a0001c0001t0001g0106
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.356-5764T>C
c.356-5764T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671052
chr7:105671098 A
A
 C
C
 233 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(230): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 233 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(230): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-5810T>G
c.356-5810T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671098
chr7:105671100 G
G
 A
A
 18 a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
others(15): Show 
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0142
a0001c0001t0002g0239
a0001c0001t0003g0090
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0008g0015
a0001c0001t0016g0069
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0034g0068
a0001c0001t0043g0105
a0001c0001t0051g0035
a0001c0001t0056g0210
a0002c0002t0030g0212
a0003c0003t0005g0079
 18 HG00558.hp1
HG00735.hp1
HG01261.hp2
others(15): Show 
HG00558.hp1
HG00735.hp1
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG02083.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02723.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18962.hp2
NA19088.hp2
 intron_variant MODIFIER c.356-5812C>T
c.356-5812C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671100
chr7:105671104 C
C
 CA
CA
 9 a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0021
others(6): Show 
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0005g0025
a0001c0001t0011g0170
a0001c0001t0015g0060
a0001c0001t0026g0189
a0001c0001t0056g0210
 9 HG01109.hp1
HG01175.hp1
HG02280.hp2
others(6): Show 
HG01109.hp1
HG01175.hp1
HG02280.hp2
HG03225.hp2
HG06807.hp1
NA18950.hp1
NA18989.hp2
NA19067.hp1
NA19085.hp1
 intron_variant MODIFIER c.356-5817dupT
c.356-5817dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671104
chr7:105671104 C
C
 CAAAA
CAAAA
 7 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(4): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 7 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(4): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02300.hp2
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.356-5820_356-5817d
others(6): Show 
c.356-5820_356-5817dupTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671104
chr7:105671104 C
C
 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 29 a0001c0001t0001g0044
a0001c0001t0001g0088
a0001c0001t0001g0106
others(26): Show 
a0001c0001t0001g0044
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0003g0004
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0203
a0001c0001t0005g0126
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0143
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0018g0094
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0007t0038g0158
a0002c0002t0032g0149
 29 HG00738.hp2
HG01167.hp2
HG01169.hp2
others(26): Show 
HG00738.hp2
HG01167.hp2
HG01169.hp2
HG01257.hp2
HG01943.hp2
HG01978.hp1
HG02015.hp1
HG02132.hp1
HG02165.hp2
HG02300.hp1
HG02622.hp1
HG02622.hp2
HG02735.hp1
HG02818.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03669.hp2
NA18962.hp1
NA18970.hp2
NA18994.hp2
NA18995.hp1
NA19009.hp1
NA19030.hp1
NA19056.hp2
NA19068.hp2
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-5826_356-5817d
others(12): Show 
c.356-5826_356-5817dupTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671104
chr7:105671104 C
C
 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 34 a0001c0001t0001g0009
a0001c0001t0001g0033
a0001c0001t0001g0085
others(31): Show 
a0001c0001t0001g0009
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0163
a0001c0001t0002g0002
a0001c0001t0002g0162
a0001c0001t0002g0231
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0004g0124
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0117
a0001c0001t0007g0223
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0012g0052
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0016g0136
a0001c0001t0019g0230
a0001c0001t0024g0077
a0001c0001t0040g0207
a0001c0001t0050g0155
a0001c0001t0063g0041
a0001c0008t0014g0165
a0001c0012t0003g0047
a0005c0011t0008g0092
 34 HG00558.hp2
HG00673.hp1
HG00735.hp2
others(31): Show 
HG00558.hp2
HG00673.hp1
HG00735.hp2
HG01109.hp2
HG01433.hp2
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02451.hp1
HG02602.hp2
HG02738.hp1
HG03098.hp2
HG03239.hp1
HG03516.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18971.hp1
NA18971.hp2
NA19010.hp2
NA19054.hp1
NA19054.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA20300.hp1
 intron_variant MODIFIER c.356-5827_356-5817d
others(13): Show 
c.356-5827_356-5817dupTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671104
chr7:105671104 C
C
 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 11 a0001c0001t0001g0017
a0001c0001t0001g0102
a0001c0001t0002g0053
others(8): Show 
a0001c0001t0001g0017
a0001c0001t0001g0102
a0001c0001t0002g0053
a0001c0001t0005g0159
a0001c0001t0007g0057
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0029g0072
a0001c0001t0048g0132
a0001c0001t0058g0018
a0001c0001t0062g0007
 11 HG00673.hp2
HG02071.hp2
HG02523.hp2
others(8): Show 
HG00673.hp2
HG02071.hp2
HG02523.hp2
HG02738.hp2
HG03688.hp2
HG03831.hp1
NA18989.hp1
NA19000.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
 intron_variant MODIFIER c.356-5828_356-5817d
others(14): Show 
c.356-5828_356-5817dupTTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671104
chr7:105671104 C
C
 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 1 a0001c0001t0005g0248
a0001c0001t0005g0248
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.356-5829_356-5817d
others(15): Show 
c.356-5829_356-5817dupTTTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671104
chr7:105671104 C
C
 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 2 a0001c0001t0002g0016
a0001c0001t0014g0038
a0001c0001t0002g0016
a0001c0001t0014g0038
 2 HG02165.hp1
HG03831.hp2
HG02165.hp1
HG03831.hp2
 intron_variant MODIFIER c.356-5830_356-5817d
others(16): Show 
c.356-5830_356-5817dupTTTTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671104
chr7:105671104 C
C
 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 1 a0001c0001t0015g0019
a0001c0001t0015g0019
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.356-5831_356-5817d
others(17): Show 
c.356-5831_356-5817dupTTTTTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671104
chr7:105671104 CA
CA
 C
C
 8 a0001c0001t0001g0078
a0001c0001t0003g0050
a0001c0001t0004g0128
others(5): Show 
a0001c0001t0001g0078
a0001c0001t0003g0050
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0064g0098
a0001c0005t0007g0209
 8 HG01255.hp1
HG01515.hp2
HG01517.hp2
others(5): Show 
HG01255.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG02135.hp2
NA18747.hp2
NA19003.hp1
NA19068.hp1
 intron_variant MODIFIER c.356-5817delT
c.356-5817delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671104
chr7:105671104 CAAAAAAA
others(1): Show 
CAAAAAAAA
 C
C
 12 a0001c0001t0001g0185
a0001c0001t0003g0043
a0001c0001t0004g0127
others(9): Show 
a0001c0001t0001g0185
a0001c0001t0003g0043
a0001c0001t0004g0127
a0001c0001t0006g0067
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0097
a0001c0001t0012g0064
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0052g0133
 12 HG01175.hp2
HG01346.hp1
HG02056.hp1
others(9): Show 
HG01175.hp2
HG01346.hp1
HG02056.hp1
HG02132.hp2
HG02135.hp1
HG02523.hp1
HG02602.hp1
HG03516.hp2
HG03669.hp1
NA19009.hp2
NA19074.hp2
NA19079.hp1
 intron_variant MODIFIER c.356-5824_356-5817d
others(10): Show 
c.356-5824_356-5817delTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671104
chr7:105671104 CAAAAAAA
others(2): Show 
CAAAAAAAAA
 C
C
 64 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0119
others(61): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0002g0245
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0166
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0007c0009t0007g0096
 64 HG00323.hp1
HG00741.hp2
HG01069.hp2
others(61): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp2
HG01168.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02145.hp1
HG02155.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-5825_356-5817d
others(11): Show 
c.356-5825_356-5817delTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671104
chr7:105671104 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 5 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0004g0039
others(2): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0004g0039
a0001c0001t0012g0232
a0001c0001t0061g0036
 5 HG01099.hp2
HG01167.hp1
HG01516.hp2
others(2): Show 
HG01099.hp2
HG01167.hp1
HG01516.hp2
HG01517.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-5826_356-5817d
others(12): Show 
c.356-5826_356-5817delTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671104
chr7:105671104 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 C
C
 1 a0001c0001t0002g0010
a0001c0001t0002g0010
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.356-5828_356-5817d
others(14): Show 
c.356-5828_356-5817delTTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671104
chr7:105671195 A
A
 G
G
 1 a0001c0001t0017g0213
a0001c0001t0017g0213
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.356-5907T>C
c.356-5907T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671195
chr7:105671281 C
C
 CA
CA
 74 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0082
others(71): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0198
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0057g0229
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0006c0010t0031g0204
a0007c0009t0007g0096
 74 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(71): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01168.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02300.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18970.hp1
NA19003.hp2
NA19009.hp2
NA19043.hp2
NA19074.hp2
NA19079.hp1
NA19085.hp2
NA19240.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-5994dupT
c.356-5994dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671281
chr7:105671281 CA
CA
 C
C
 12 a0001c0001t0001g0044
a0001c0001t0001g0174
a0001c0001t0003g0150
others(9): Show 
a0001c0001t0001g0044
a0001c0001t0001g0174
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0006g0197
a0001c0001t0010g0091
a0001c0001t0016g0139
a0001c0001t0018g0058
a0001c0001t0046g0138
 12 HG00673.hp2
HG01069.hp1
HG02083.hp1
others(9): Show 
HG00673.hp2
HG01069.hp1
HG02083.hp1
HG02559.hp2
HG02572.hp2
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA19003.hp1
NA19056.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-5994delT
c.356-5994delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671281
chr7:105671418 A
A
 C
C
 2 a0001c0001t0001g0174
a0001c0001t0010g0091
a0001c0001t0001g0174
a0001c0001t0010g0091
 2 HG00673.hp2
HG02083.hp1
HG00673.hp2
HG02083.hp1
 intron_variant MODIFIER c.356-6130T>G
c.356-6130T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671418
chr7:105671530 C
C
 T
T
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.356-6242G>A
c.356-6242G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671530
chr7:105671531 T
T
 C
C
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.356-6243A>G
c.356-6243A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671531
chr7:105671532 C
C
 A
A
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.356-6244G>T
c.356-6244G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671532
chr7:105671556 C
C
 A
A
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.356-6268G>T
c.356-6268G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671556
chr7:105671571 G
G
 C
C
 205 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(202): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 205 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(202): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-6283C>G
c.356-6283C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671571
chr7:105671600 GT
GT
 G
G
 206 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(203): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 206 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(203): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-6313delA
c.356-6313delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671600
chr7:105671649 C
C
 A
A
 4 a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0007g0223
others(1): Show 
a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
 4 HG02622.hp1
HG02622.hp2
HG02895.hp1
others(1): Show 
HG02622.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
 intron_variant MODIFIER c.356-6361G>T
c.356-6361G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671649
chr7:105671692 T
T
 C
C
 1 a0001c0001t0018g0094
a0001c0001t0018g0094
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.356-6404A>G
c.356-6404A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671692
chr7:105671722 C
C
 T
T
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.356-6434G>A
c.356-6434G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671722
chr7:105671836 G
G
 T
T
 8 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(5): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 8 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(5): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.356-6548C>A
c.356-6548C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671836
chr7:105671859 C
C
 T
T
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.356-6571G>A
c.356-6571G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671859
chr7:105671889 C
C
 CA
CA
 22 a0001c0001t0002g0048
a0001c0001t0002g0056
a0001c0001t0002g0153
others(19): Show 
a0001c0001t0002g0048
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0006g0001
a0001c0001t0007g0218
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0013g0243
a0001c0001t0023g0183
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0054g0087
a0003c0003t0020g0199
 22 HG01169.hp1
HG01358.hp1
HG01515.hp1
others(19): Show 
HG01169.hp1
HG01358.hp1
HG01515.hp1
HG02027.hp1
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02280.hp1
HG03041.hp2
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18995.hp2
NA19010.hp1
NA19056.hp1
NA19066.hp2
NA19074.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.356-6602dupT
c.356-6602dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671889
chr7:105671889 C
C
 CAA
CAA
 10 a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0049
others(7): Show 
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0167
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0008g0073
a0001c0001t0009g0055
a0001c0001t0010g0051
a0001c0001t0018g0046
 10 HG01168.hp2
HG01934.hp2
HG02027.hp2
others(7): Show 
HG01168.hp2
HG01934.hp2
HG02027.hp2
HG03942.hp2
NA18989.hp2
NA19067.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
 intron_variant MODIFIER c.356-6603_356-6602d
others(4): Show 
c.356-6603_356-6602dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671889
chr7:105671889 CA
CA
 C
C
 11 a0001c0001t0001g0005
a0001c0001t0001g0078
a0001c0001t0003g0050
others(8): Show 
a0001c0001t0001g0005
a0001c0001t0001g0078
a0001c0001t0003g0050
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0005g0206
a0001c0001t0006g0067
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0024g0250
a0001c0001t0026g0234
 11 HG01175.hp2
HG01255.hp1
HG01515.hp2
others(8): Show 
HG01175.hp2
HG01255.hp1
HG01515.hp2
HG01517.hp2
HG02055.hp2
HG02056.hp1
HG02148.hp2
NA18747.hp2
NA18994.hp1
NA19003.hp1
NA19068.hp1
 intron_variant MODIFIER c.356-6602delT
c.356-6602delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671889
chr7:105671889 CAA
CAA
 C
C
 43 a0001c0001t0001g0017
a0001c0001t0001g0080
a0001c0001t0001g0081
others(40): Show 
a0001c0001t0001g0017
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0002g0239
a0001c0001t0004g0203
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0010g0095
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0014g0166
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0027g0008
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0040g0207
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0033g0221
a0003c0003t0005g0079
 43 HG00741.hp2
HG01074.hp1
HG01099.hp2
others(40): Show 
HG00741.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp1
HG01243.hp1
HG01346.hp1
HG01433.hp1
HG01516.hp2
HG01517.hp1
HG01981.hp1
HG01981.hp2
HG02055.hp1
HG02071.hp2
HG02135.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03688.hp2
HG06807.hp1
HG06807.hp2
NA18948.hp2
NA19000.hp1
NA19000.hp2
NA19043.hp1
NA19060.hp1
NA19067.hp2
NA19079.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.356-6603_356-6602d
others(4): Show 
c.356-6603_356-6602delTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671889
chr7:105671889 CAAA
CAAA
 C
C
 149 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
others(146): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 149 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(146): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp2
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-6604_356-6602d
others(5): Show 
c.356-6604_356-6602delTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105671889
chr7:105672084 G
G
 A
A
 32 a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
others(29): Show 
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0007g0218
a0001c0001t0008g0073
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0013g0243
a0001c0001t0018g0046
a0001c0001t0023g0183
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0054g0087
a0003c0003t0020g0199
 32 HG01168.hp2
HG01169.hp1
HG01358.hp1
others(29): Show 
HG01168.hp2
HG01169.hp1
HG01358.hp1
HG01515.hp1
HG01934.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp2
HG02280.hp1
HG03041.hp2
HG03942.hp2
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18989.hp2
NA18995.hp2
NA19010.hp1
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.356-6796C>T
c.356-6796C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105672084
chr7:105672150 A
A
 G
G
 215 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(212): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 215 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(212): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-6862T>C
c.356-6862T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105672150
chr7:105672159 G
G
 A
A
 11 a0001c0001t0001g0005
a0001c0001t0001g0074
a0001c0001t0001g0078
others(8): Show 
a0001c0001t0001g0005
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0003g0050
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0020g0120
a0001c0001t0026g0234
a0001c0001t0064g0098
 11 HG01192.hp1
HG01255.hp1
HG01515.hp2
others(8): Show 
HG01192.hp1
HG01255.hp1
HG01515.hp2
HG01517.hp2
HG02135.hp2
HG02148.hp2
NA18747.hp2
NA18957.hp2
NA18994.hp1
NA19003.hp1
NA19068.hp1
 intron_variant MODIFIER c.356-6871C>T
c.356-6871C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105672159
chr7:105672194 G
G
 A
A
 8 a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
others(5): Show 
a0001c0001t0001g0082
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
 8 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(5): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG02300.hp2
NA18970.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.356-6906C>T
c.356-6906C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105672194
chr7:105672266 A
A
 T
T
 1 a0001c0001t0052g0133
a0001c0001t0052g0133
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.356-6978T>A
c.356-6978T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105672266
chr7:105672277 C
C
 G
G
 5 a0001c0001t0002g0016
a0001c0001t0003g0238
a0001c0001t0004g0124
others(2): Show 
a0001c0001t0002g0016
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0048g0132
a0001c0006t0001g0112
 5 HG02165.hp1
HG02523.hp2
HG03239.hp1
others(2): Show 
HG02165.hp1
HG02523.hp2
HG03239.hp1
HG03491.hp1
HG03491.hp2
 intron_variant MODIFIER c.356-6989G>C
c.356-6989G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105672277
chr7:105672495 G
G
 T
T
 215 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(212): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 215 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(212): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-7207C>A
c.356-7207C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105672495
chr7:105672502 C
C
 T
T
 1 a0001c0001t0060g0192
a0001c0001t0060g0192
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.356-7214G>A
c.356-7214G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105672502
chr7:105672507 T
T
 C
C
 2 a0001c0001t0010g0093
a0001c0001t0049g0148
a0001c0001t0010g0093
a0001c0001t0049g0148
 2 HG01099.hp1
HG01978.hp2
HG01099.hp1
HG01978.hp2
 intron_variant MODIFIER c.356-7219A>G
c.356-7219A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105672507
chr7:105672642 T
T
 C
C
 1 a0001c0001t0005g0159
a0001c0001t0005g0159
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.356-7354A>G
c.356-7354A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105672642
chr7:105672809 G
G
 A
A
 1 a0001c0001t0016g0139
a0001c0001t0016g0139
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.356-7521C>T
c.356-7521C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105672809
chr7:105672913 A
A
 G
G
 6 a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
others(3): Show 
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0006g0197
a0001c0001t0016g0139
a0001c0001t0018g0058
 6 HG02559.hp2
HG02572.hp2
HG03579.hp1
others(3): Show 
HG02559.hp2
HG02572.hp2
HG03579.hp1
NA18522.hp1
NA18906.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-7625T>C
c.356-7625T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105672913
chr7:105673061 G
G
 T
T
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.356-7773C>A
c.356-7773C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105673061
chr7:105673073 C
C
 T
T
 16 a0001c0001t0001g0005
a0001c0001t0001g0082
a0001c0001t0003g0050
others(13): Show 
a0001c0001t0001g0005
a0001c0001t0001g0082
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0128
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0020g0120
a0001c0001t0026g0234
a0001c0001t0064g0098
 16 HG00280.hp2
HG00642.hp1
HG00738.hp1
others(13): Show 
HG00280.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG01192.hp1
HG01255.hp1
HG01515.hp2
HG01517.hp2
HG02135.hp2
HG02148.hp2
HG02300.hp2
NA18970.hp1
NA18994.hp1
NA19003.hp2
NA19068.hp1
NA19085.hp2
 intron_variant MODIFIER c.356-7785G>A
c.356-7785G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105673073
chr7:105673074 A
A
 G
G
 4 a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0007g0223
others(1): Show 
a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0021g0227
 4 HG02622.hp1
HG02622.hp2
HG02895.hp1
others(1): Show 
HG02622.hp1
HG02622.hp2
HG02895.hp1
HG03516.hp1
 intron_variant MODIFIER c.356-7786T>C
c.356-7786T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105673074
chr7:105673179 C
C
 T
T
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.356-7891G>A
c.356-7891G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105673179
chr7:105673238 T
T
 C
C
 1 a0001c0004t0010g0154
a0001c0004t0010g0154
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.356-7950A>G
c.356-7950A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105673238
chr7:105673546 G
G
 A
A
 1 a0001c0001t0003g0171
a0001c0001t0003g0171
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.356-8258C>T
c.356-8258C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105673546
chr7:105673568 T
T
 A
A
 90 a0001c0001t0001g0003
a0001c0001t0001g0074
a0001c0001t0001g0078
others(87): Show 
a0001c0001t0001g0003
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0162
a0001c0001t0002g0187
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0058
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
 90 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(87): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
HG03669.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18957.hp2
NA18970.hp1
NA18994.hp2
NA19000.hp1
NA19003.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp1
NA19074.hp2
NA19079.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-8280A>T
c.356-8280A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105673568
chr7:105673726 C
C
 T
T
 1 a0001c0001t0002g0142
a0001c0001t0002g0142
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.356-8438G>A
c.356-8438G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105673726
chr7:105673727 G
G
 A
A
 1 a0001c0001t0024g0250
a0001c0001t0024g0250
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.356-8439C>T
c.356-8439C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105673727
chr7:105673879 A
A
 T
T
 82 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(79): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0201
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0005g0159
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0232
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0043g0105
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0149
a0002c0002t0059g0200
 82 HG00558.hp1
HG00673.hp2
HG00735.hp2
others(79): Show 
HG00558.hp1
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
NA18747.hp1
NA18943.hp1
NA18948.hp2
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp2
NA19060.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
 intron_variant MODIFIER c.356-8591T>A
c.356-8591T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105673879
chr7:105674065 C
C
 G
G
 2 a0001c0001t0028g0114
a0001c0005t0007g0209
a0001c0001t0028g0114
a0001c0005t0007g0209
 2 HG01891.hp1
NA19043.hp1
HG01891.hp1
NA19043.hp1
 intron_variant MODIFIER c.356-8777G>C
c.356-8777G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105674065
chr7:105674104 G
G
 A
A
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.356-8816C>T
c.356-8816C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105674104
chr7:105674124 G
G
 A
A
 103 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
others(100): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0159
a0001c0001t0006g0022
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0013g0156
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
a0007c0009t0007g0096
 103 HG00558.hp1
HG00673.hp2
HG00735.hp2
others(100): Show 
HG00558.hp1
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01943.hp2
HG01952.hp1
HG01978.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp2
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-8836C>T
c.356-8836C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105674124
chr7:105674272 C
C
 T
T
 1 a0001c0001t0060g0192
a0001c0001t0060g0192
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.356-8984G>A
c.356-8984G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105674272
chr7:105674290 G
G
 A
A
 10 a0001c0001t0001g0059
a0001c0001t0003g0150
a0001c0001t0004g0198
others(7): Show 
a0001c0001t0001g0059
a0001c0001t0003g0150
a0001c0001t0004g0198
a0001c0001t0005g0182
a0001c0001t0012g0244
a0001c0001t0015g0060
a0001c0001t0017g0195
a0001c0001t0025g0104
a0001c0001t0025g0240
a0003c0003t0020g0199
 10 HG00323.hp1
HG00642.hp2
HG00735.hp1
others(7): Show 
HG00323.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp1
HG01175.hp1
HG01243.hp2
HG01358.hp1
HG01516.hp1
HG03209.hp1
HG03490.hp1
 intron_variant MODIFIER c.356-9002C>T
c.356-9002C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105674290
chr7:105674359 A
A
 G
G
 60 a0001c0001t0001g0059
a0001c0001t0001g0078
a0001c0001t0001g0085
others(57): Show 
a0001c0001t0001g0059
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0163
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0198
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0067
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0146
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0028
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0014g0083
a0001c0001t0014g0233
a0001c0001t0015g0060
a0001c0001t0017g0195
a0001c0001t0023g0183
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0004t0010g0154
a0002c0002t0032g0226
a0003c0003t0020g0199
 60 HG00280.hp2
HG00323.hp1
HG00558.hp2
others(57): Show 
HG00280.hp2
HG00323.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01069.hp1
HG01069.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01516.hp1
HG01934.hp2
HG01952.hp2
HG01981.hp1
HG02027.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02602.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03669.hp1
NA18747.hp2
NA18943.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18995.hp2
NA19003.hp2
NA19005.hp2
NA19010.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA20129.hp1
 intron_variant MODIFIER c.356-9071T>C
c.356-9071T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105674359
chr7:105674521 T
T
 C
C
 1 a0001c0001t0027g0008
a0001c0001t0027g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.356-9233A>G
c.356-9233A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105674521
chr7:105675134 T
T
 C
C
 1 a0001c0001t0013g0129
a0001c0001t0013g0129
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.356-9846A>G
c.356-9846A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105675134
chr7:105675157 TA
TA
 T
T
 103 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(100): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0015g0060
a0001c0001t0016g0069
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0028g0114
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0006c0010t0031g0204
a0007c0009t0007g0096
 103 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(100): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01358.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02148.hp2
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-9870delT
c.356-9870delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105675157
chr7:105675157 TAA
TAA
 T
T
 44 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(41): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0231
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0039
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0006g0022
a0001c0001t0006g0197
a0001c0001t0008g0175
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0034g0068
a0001c0001t0049g0148
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0005c0011t0008g0092
 44 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(41): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01978.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02559.hp2
HG02572.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19054.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19086.hp1
NA19087.hp2
NA20300.hp2
 intron_variant MODIFIER c.356-9871_356-9870d
others(4): Show 
c.356-9871_356-9870delTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105675157
chr7:105675183 T
T
 C
C
 61 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
others(58): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0061g0036
a0001c0008t0014g0165
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 61 HG00280.hp1
HG00558.hp1
HG00738.hp1
others(58): Show 
HG00280.hp1
HG00558.hp1
HG00738.hp1
HG00741.hp2
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02165.hp2
HG02280.hp1
HG02523.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02735.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp1
HG03688.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA19000.hp1
NA19003.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-9895A>G
c.356-9895A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105675183
chr7:105675248 G
G
 A
A
 3 a0001c0001t0004g0084
a0001c0001t0026g0234
a0001c0001t0033g0040
a0001c0001t0004g0084
a0001c0001t0026g0234
a0001c0001t0033g0040
 3 HG01069.hp2
HG01081.hp2
HG02148.hp2
HG01069.hp2
HG01081.hp2
HG02148.hp2
 intron_variant MODIFIER c.356-9960C>T
c.356-9960C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105675248
chr7:105675519 G
G
 A
A
 2 a0001c0001t0008g0075
a0001c0001t0027g0134
a0001c0001t0008g0075
a0001c0001t0027g0134
 2 HG03130.hp2
HG03139.hp1
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.356-10231C>T
c.356-10231C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105675519
chr7:105675615 C
C
 T
T
 3 a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0019g0178
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0019g0178
 3 HG01934.hp1
HG01943.hp1
HG02602.hp1
HG01934.hp1
HG01943.hp1
HG02602.hp1
 intron_variant MODIFIER c.356-10327G>A
c.356-10327G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105675615
chr7:105675861 G
G
 C
C
 151 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
others(148): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 151 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(148): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-10573C>G
c.356-10573C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105675861
chr7:105675884 CT
CT
 C
C
 9 a0001c0001t0001g0119
a0001c0001t0003g0030
a0001c0001t0008g0089
others(6): Show 
a0001c0001t0001g0119
a0001c0001t0003g0030
a0001c0001t0008g0089
a0001c0001t0016g0069
a0001c0001t0021g0130
a0001c0001t0055g0252
a0002c0002t0030g0212
a0002c0002t0059g0200
a0006c0010t0031g0204
 9 HG01168.hp1
HG01884.hp1
HG02523.hp1
others(6): Show 
HG01168.hp1
HG01884.hp1
HG02523.hp1
HG03041.hp1
HG03130.hp1
HG03471.hp2
HG03579.hp2
NA18971.hp2
NA19240.hp2
 intron_variant MODIFIER c.356-10597delA
c.356-10597delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105675884
chr7:105675884 CTT
CTT
 C
C
 46 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(43): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0231
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0039
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0006g0022
a0001c0001t0006g0197
a0001c0001t0008g0175
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0049g0148
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0005c0011t0008g0092
 46 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(43): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01978.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02559.hp2
HG02572.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02965.hp1
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19043.hp1
NA19054.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19086.hp1
NA19087.hp2
NA20300.hp2
 intron_variant MODIFIER c.356-10598_356-1059
others(6): Show 
c.356-10598_356-10597delAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105675884
chr7:105675921 T
T
 G
G
 11 a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
others(8): Show 
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0005g0159
a0001c0001t0008g0089
a0001c0001t0009g0141
a0001c0001t0011g0170
a0001c0001t0018g0046
a0001c0008t0014g0165
 11 HG00558.hp1
HG02027.hp2
HG02071.hp2
others(8): Show 
HG00558.hp1
HG02027.hp2
HG02071.hp2
HG02132.hp2
HG02165.hp2
HG02523.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA19074.hp1
 intron_variant MODIFIER c.356-10633A>C
c.356-10633A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105675921
chr7:105675991 G
G
 A
A
 2 a0001c0001t0007g0202
a0001c0001t0056g0210
a0001c0001t0007g0202
a0001c0001t0056g0210
 2 HG02895.hp1
HG03225.hp2
HG02895.hp1
HG03225.hp2
 intron_variant MODIFIER c.356-10703C>T
c.356-10703C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105675991
chr7:105676111 G
G
 C
C
 3 a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0051g0035
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0051g0035
 3 HG01255.hp1
HG01346.hp2
HG03669.hp1
HG01255.hp1
HG01346.hp2
HG03669.hp1
 intron_variant MODIFIER c.356-10823C>G
c.356-10823C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105676111
chr7:105676164 G
G
 A
A
 2 a0001c0001t0016g0069
a0002c0002t0030g0212
a0001c0001t0016g0069
a0002c0002t0030g0212
 2 HG03130.hp1
HG03471.hp2
HG03130.hp1
HG03471.hp2
 intron_variant MODIFIER c.356-10876C>T
c.356-10876C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105676164
chr7:105676185 C
C
 A
A
 2 a0001c0001t0001g0174
a0001c0001t0010g0091
a0001c0001t0001g0174
a0001c0001t0010g0091
 2 HG00673.hp2
HG02083.hp1
HG00673.hp2
HG02083.hp1
 intron_variant MODIFIER c.356-10897G>T
c.356-10897G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105676185
chr7:105676324 C
C
 T
T
 1 a0001c0001t0004g0198
a0001c0001t0004g0198
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.356-11036G>A
c.356-11036G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105676324
chr7:105676478 C
C
 T
T
 1 a0001c0001t0053g0031
a0001c0001t0053g0031
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.356-11190G>A
c.356-11190G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105676478
chr7:105676503 T
T
 G
G
 3 a0001c0001t0007g0202
a0001c0001t0056g0210
a0006c0010t0031g0204
a0001c0001t0007g0202
a0001c0001t0056g0210
a0006c0010t0031g0204
 3 HG02895.hp1
HG03225.hp2
HG03579.hp2
HG02895.hp1
HG03225.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-11215A>C
c.356-11215A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105676503
chr7:105676523 C
C
 A
A
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.356-11235G>T
c.356-11235G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105676523
chr7:105676590 G
G
 A
A
 1 a0001c0001t0004g0127
a0001c0001t0004g0127
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.356-11302C>T
c.356-11302C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105676590
chr7:105676632 G
G
 A
A
 3 a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0020g0120
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0020g0120
 3 HG01192.hp1
HG01515.hp2
HG01517.hp2
HG01192.hp1
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.356-11344C>T
c.356-11344C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105676632
chr7:105676789 G
G
 A
A
 1 a0001c0001t0006g0067
a0001c0001t0006g0067
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.356-11501C>T
c.356-11501C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105676789
chr7:105676946 C
C
 T
T
 3 a0001c0001t0007g0202
a0001c0001t0056g0210
a0006c0010t0031g0204
a0001c0001t0007g0202
a0001c0001t0056g0210
a0006c0010t0031g0204
 3 HG02895.hp1
HG03225.hp2
HG03579.hp2
HG02895.hp1
HG03225.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-11658G>A
c.356-11658G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105676946
chr7:105676966 G
G
 A
A
 1 a0001c0001t0008g0175
a0001c0001t0008g0175
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.356-11678C>T
c.356-11678C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105676966
chr7:105677020 C
C
 T
T
 2 a0001c0001t0003g0147
a0001c0001t0009g0146
a0001c0001t0003g0147
a0001c0001t0009g0146
 2 NA19068.hp2
NA19087.hp2
NA19068.hp2
NA19087.hp2
 intron_variant MODIFIER c.356-11732G>A
c.356-11732G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105677020
chr7:105677140 C
C
 T
T
 2 a0001c0001t0008g0075
a0001c0001t0027g0134
a0001c0001t0008g0075
a0001c0001t0027g0134
 2 HG03130.hp2
HG03139.hp1
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.356-11852G>A
c.356-11852G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105677140
chr7:105677241 T
T
 C
C
 2 a0001c0001t0016g0069
a0002c0002t0030g0212
a0001c0001t0016g0069
a0002c0002t0030g0212
 2 HG03130.hp1
HG03471.hp2
HG03130.hp1
HG03471.hp2
 intron_variant MODIFIER c.356-11953A>G
c.356-11953A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105677241
chr7:105677611 G
G
 A
A
 27 a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0201
others(24): Show 
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0003g0070
a0001c0001t0004g0137
a0001c0001t0006g0117
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0010g0228
a0001c0001t0012g0232
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0021g0184
a0001c0001t0024g0250
a0001c0001t0029g0215
a0001c0001t0041g0196
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0033g0221
a0002c0002t0059g0200
 27 HG00323.hp2
HG01167.hp1
HG01168.hp1
others(24): Show 
HG00323.hp2
HG01167.hp1
HG01168.hp1
HG01243.hp1
HG01261.hp2
HG01884.hp2
HG01891.hp1
HG02056.hp1
HG02451.hp1
HG02559.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG06807.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.356-12323C>T
c.356-12323C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105677611
chr7:105677625 T
T
 G
G
 1 a0001c0001t0019g0178
a0001c0001t0019g0178
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.356-12337A>C
c.356-12337A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105677625
chr7:105677669 T
T
 G
G
 1 a0001c0001t0002g0239
a0001c0001t0002g0239
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.356-12381A>C
c.356-12381A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105677669
chr7:105677785 C
C
 T
T
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.356-12497G>A
c.356-12497G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105677785
chr7:105677930 G
G
 A
A
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.356-12642C>T
c.356-12642C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105677930
chr7:105678066 T
T
 C
C
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.356-12778A>G
c.356-12778A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105678066
chr7:105678092 C
C
 CT
CT
 5 a0001c0001t0002g0186
a0001c0001t0005g0027
a0001c0001t0009g0054
others(2): Show 
a0001c0001t0002g0186
a0001c0001t0005g0027
a0001c0001t0009g0054
a0001c0001t0060g0192
a0001c0012t0003g0047
 5 HG01934.hp2
HG02145.hp1
NA18945.hp1
others(2): Show 
HG01934.hp2
HG02145.hp1
NA18945.hp1
NA18995.hp1
NA19054.hp2
 intron_variant MODIFIER c.356-12805dupA
c.356-12805dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105678092
chr7:105678092 CT
CT
 C
C
 7 a0001c0001t0001g0044
a0001c0001t0002g0160
a0001c0001t0003g0118
others(4): Show 
a0001c0001t0001g0044
a0001c0001t0002g0160
a0001c0001t0003g0118
a0001c0001t0012g0232
a0001c0001t0014g0123
a0001c0001t0014g0237
a0001c0001t0019g0063
 7 HG00323.hp2
HG01167.hp1
HG01167.hp2
others(4): Show 
HG00323.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01261.hp2
NA18962.hp1
NA19056.hp2
 intron_variant MODIFIER c.356-12805delA
c.356-12805delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105678092
chr7:105678109 T
T
 C
C
 1 a0001c0001t0012g0052
a0001c0001t0012g0052
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.356-12821A>G
c.356-12821A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105678109
chr7:105678273 C
C
 T
T
 2 a0001c0001t0007g0202
a0001c0001t0056g0210
a0001c0001t0007g0202
a0001c0001t0056g0210
 2 HG02895.hp1
HG03225.hp2
HG02895.hp1
HG03225.hp2
 intron_variant MODIFIER c.356-12985G>A
c.356-12985G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105678273
chr7:105678398 G
G
 A
A
 3 a0001c0001t0010g0111
a0001c0001t0016g0136
a0001c0001t0040g0207
a0001c0001t0010g0111
a0001c0001t0016g0136
a0001c0001t0040g0207
 3 HG00738.hp2
HG03098.hp2
NA18906.hp2
HG00738.hp2
HG03098.hp2
NA18906.hp2
 intron_variant MODIFIER c.356-13110C>T
c.356-13110C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105678398
chr7:105678412 T
T
 C
C
 2 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0205
a0001c0001t0001g0222
 2 HG02280.hp2
HG02451.hp2
HG02280.hp2
HG02451.hp2
 intron_variant MODIFIER c.356-13124A>G
c.356-13124A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105678412
chr7:105678447 C
C
 T
T
 2 a0001c0001t0015g0019
a0001c0001t0029g0072
a0001c0001t0015g0019
a0001c0001t0029g0072
 2 HG02738.hp2
HG03942.hp1
HG02738.hp2
HG03942.hp1
 intron_variant MODIFIER c.356-13159G>A
c.356-13159G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105678447
chr7:105678632 G
G
 A
A
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.356-13344C>T
c.356-13344C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105678632
chr7:105678671 G
G
 A
A
 2 a0001c0001t0017g0113
a0006c0010t0031g0204
a0001c0001t0017g0113
a0006c0010t0031g0204
 2 HG03209.hp2
HG03579.hp2
HG03209.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-13383C>T
c.356-13383C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105678671
chr7:105678908 G
G
 A
A
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.356-13620C>T
c.356-13620C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105678908
chr7:105678953 G
G
 A
A
 57 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
others(54): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0061g0036
a0001c0008t0014g0165
a0003c0003t0005g0079
a0007c0009t0007g0096
 57 HG00558.hp1
HG00738.hp1
HG01074.hp1
others(54): Show 
HG00558.hp1
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02165.hp2
HG02523.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02735.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp1
HG03688.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA19000.hp1
NA19003.hp1
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-13665C>T
c.356-13665C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105678953
chr7:105678999 C
C
 T
T
 3 a0001c0001t0010g0093
a0001c0001t0049g0148
a0001c0007t0038g0158
a0001c0001t0010g0093
a0001c0001t0049g0148
a0001c0007t0038g0158
 3 HG01099.hp1
HG01943.hp2
HG01978.hp2
HG01099.hp1
HG01943.hp2
HG01978.hp2
 intron_variant MODIFIER c.356-13711G>A
c.356-13711G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105678999
chr7:105679035 C
C
 T
T
 1 a0001c0001t0006g0022
a0001c0001t0006g0022
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.356-13747G>A
c.356-13747G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105679035
chr7:105679075 C
C
 T
T
 1 a0001c0001t0049g0148
a0001c0001t0049g0148
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.356-13787G>A
c.356-13787G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105679075
chr7:105679109 C
C
 T
T
 1 a0001c0001t0006g0168
a0001c0001t0006g0168
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.356-13821G>A
c.356-13821G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105679109
chr7:105679202 C
C
 T
T
 42 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(39): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0039
a0001c0001t0006g0022
a0001c0001t0008g0175
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0044g0110
a0001c0001t0049g0148
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0005c0011t0008g0092
 42 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(39): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01978.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp1
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19043.hp1
NA19054.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19086.hp1
NA19087.hp2
 intron_variant MODIFIER c.356-13914G>A
c.356-13914G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105679202
chr7:105679232 C
C
 T
T
 2 a0001c0001t0007g0202
a0001c0001t0056g0210
a0001c0001t0007g0202
a0001c0001t0056g0210
 2 HG02895.hp1
HG03225.hp2
HG02895.hp1
HG03225.hp2
 intron_variant MODIFIER c.356-13944G>A
c.356-13944G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105679232
chr7:105679316 C
C
 T
T
 38 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0102
others(35): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0039
a0001c0001t0006g0022
a0001c0001t0008g0175
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0049g0148
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0005c0011t0008g0092
 38 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(35): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01978.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp1
NA18943.hp1
NA18945.hp1
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19054.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19086.hp1
NA19087.hp2
 intron_variant MODIFIER c.356-14028G>A
c.356-14028G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105679316
chr7:105679616 T
T
 C
C
 20 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(17): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0004c0013t0036g0107
 20 HG00280.hp1
HG00323.hp1
HG00741.hp2
others(17): Show 
HG00280.hp1
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG02055.hp1
HG02135.hp1
HG02280.hp1
HG02523.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-14328A>G
c.356-14328A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105679616
chr7:105679646 G
G
 T
T
 1 a0001c0001t0052g0133
a0001c0001t0052g0133
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.356-14358C>A
c.356-14358C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105679646
chr7:105679665 G
G
 C
C
 2 a0001c0001t0017g0113
a0006c0010t0031g0204
a0001c0001t0017g0113
a0006c0010t0031g0204
 2 HG03209.hp2
HG03579.hp2
HG03209.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-14377C>G
c.356-14377C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105679665
chr7:105679700 C
C
 G
G
 1 a0001c0001t0005g0159
a0001c0001t0005g0159
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.356-14412G>C
c.356-14412G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105679700
chr7:105679818 G
G
 A
A
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.356-14530C>T
c.356-14530C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105679818
chr7:105680074 T
T
 TA
TA
 5 a0001c0001t0008g0175
a0001c0001t0015g0125
a0001c0001t0015g0140
others(2): Show 
a0001c0001t0008g0175
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0017g0213
a0001c0001t0020g0120
 5 HG01192.hp1
HG01515.hp2
HG01517.hp2
others(2): Show 
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02630.hp1
NA19067.hp2
 intron_variant MODIFIER c.356-14787dupT
c.356-14787dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105680074
chr7:105680074 TA
TA
 T
T
 81 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(78): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0119
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0009g0013
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0008t0014g0165
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 81 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(78): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp1
HG01255.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp2
HG02895.hp1
HG03041.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03688.hp1
HG03831.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19079.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-14787delT
c.356-14787delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105680074
chr7:105680446 G
G
 C
C
 67 a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
others(64): Show 
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0137
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0217
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0010g0228
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0232
a0001c0001t0014g0083
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0027g0134
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0046g0138
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0004t0010g0154
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 67 HG00280.hp2
HG00323.hp2
HG00558.hp2
others(64): Show 
HG00280.hp2
HG00323.hp2
HG00558.hp2
HG00642.hp1
HG01074.hp2
HG01081.hp1
HG01167.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp2
HG01346.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01952.hp2
HG01981.hp1
HG02027.hp1
HG02056.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG06807.hp1
NA18747.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18995.hp2
NA19003.hp2
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.356-15158C>G
c.356-15158C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105680446
chr7:105680478 T
T
 C
C
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-15190A>G
c.356-15190A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105680478
chr7:105680883 T
T
 C
C
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.356-15595A>G
c.356-15595A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105680883
chr7:105680928 C
C
 T
T
 2 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0205
a0001c0001t0001g0222
 2 HG02280.hp2
HG02451.hp2
HG02280.hp2
HG02451.hp2
 intron_variant MODIFIER c.356-15640G>A
c.356-15640G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105680928
chr7:105681128 T
T
 C
C
 4 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0202
others(1): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0202
a0001c0001t0056g0210
 4 HG02280.hp2
HG02451.hp2
HG02895.hp1
others(1): Show 
HG02280.hp2
HG02451.hp2
HG02895.hp1
HG03225.hp2
 intron_variant MODIFIER c.356-15840A>G
c.356-15840A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105681128
chr7:105681155 G
G
 A
A
 1 a0001c0001t0016g0139
a0001c0001t0016g0139
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.356-15867C>T
c.356-15867C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105681155
chr7:105681476 T
T
 G
G
 21 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(18): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0002c0002t0022g0220
a0004c0013t0036g0107
 21 HG00280.hp1
HG00323.hp1
HG00741.hp2
others(18): Show 
HG00280.hp1
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG02055.hp1
HG02135.hp1
HG02280.hp1
HG02523.hp2
HG02723.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-16188A>C
c.356-16188A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105681476
chr7:105681576 C
C
 T
T
 209 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
others(206): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 209 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(206): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-16288G>A
c.356-16288G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105681576
chr7:105681656 C
C
 G
G
 63 a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
others(60): Show 
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0137
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0217
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0010g0228
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0012g0232
a0001c0001t0014g0083
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0027g0134
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0046g0138
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0004t0010g0154
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 63 HG00280.hp2
HG00323.hp2
HG00558.hp2
others(60): Show 
HG00280.hp2
HG00323.hp2
HG00558.hp2
HG00642.hp1
HG01074.hp2
HG01081.hp1
HG01167.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp2
HG01346.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01981.hp1
HG02027.hp1
HG02056.hp1
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG06807.hp1
NA18747.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18995.hp2
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.356-16368G>C
c.356-16368G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105681656
chr7:105681677 A
A
 T
T
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.356-16389T>A
c.356-16389T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105681677
chr7:105682174 G
G
 A
A
 2 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0205
a0001c0001t0001g0222
 2 HG02280.hp2
HG02451.hp2
HG02280.hp2
HG02451.hp2
 intron_variant MODIFIER c.356-16886C>T
c.356-16886C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105682174
chr7:105682342 C
C
 T
T
 20 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(17): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0002c0002t0022g0220
 20 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(17): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG02055.hp1
HG02135.hp1
HG02280.hp1
HG02523.hp2
HG02723.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-17054G>A
c.356-17054G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105682342
chr7:105682443 T
T
 C
C
 20 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(17): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0002c0002t0022g0220
 20 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(17): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG02055.hp1
HG02135.hp1
HG02280.hp1
HG02523.hp2
HG02723.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-17155A>G
c.356-17155A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105682443
chr7:105682562 A
A
 G
G
 1 a0001c0001t0009g0054
a0001c0001t0009g0054
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.356-17274T>C
c.356-17274T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105682562
chr7:105682611 G
G
 A
A
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.356-17323C>T
c.356-17323C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105682611
chr7:105682839 A
A
 C
C
 20 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(17): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0002c0002t0022g0220
 20 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(17): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG02055.hp1
HG02135.hp1
HG02280.hp1
HG02523.hp2
HG02723.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-17551T>G
c.356-17551T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105682839
chr7:105682884 G
G
 C
C
 2 a0001c0001t0015g0019
a0001c0001t0029g0072
a0001c0001t0015g0019
a0001c0001t0029g0072
 2 HG02738.hp2
HG03942.hp1
HG02738.hp2
HG03942.hp1
 intron_variant MODIFIER c.356-17596C>G
c.356-17596C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105682884
chr7:105682981 A
A
 G
G
 2 a0001c0001t0016g0069
a0002c0002t0030g0212
a0001c0001t0016g0069
a0002c0002t0030g0212
 2 HG03130.hp1
HG03471.hp2
HG03130.hp1
HG03471.hp2
 intron_variant MODIFIER c.356-17693T>C
c.356-17693T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105682981
chr7:105683041 C
C
 T
T
 45 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(42): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0022
a0001c0001t0008g0175
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0044g0110
a0001c0001t0049g0148
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
 45 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(42): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01978.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03130.hp1
HG03471.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp1
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19043.hp1
NA19054.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19086.hp1
NA19087.hp2
 intron_variant MODIFIER c.356-17753G>A
c.356-17753G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105683041
chr7:105683138 C
C
 T
T
 1 a0001c0001t0057g0229
a0001c0001t0057g0229
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.356-17850G>A
c.356-17850G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105683138
chr7:105683297 A
A
 G
G
 3 a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
 3 HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
 intron_variant MODIFIER c.356-18009T>C
c.356-18009T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105683297
chr7:105683343 G
G
 C
C
 19 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(16): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
 19 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(16): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG02055.hp1
HG02135.hp1
HG02280.hp1
HG02523.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-18055C>G
c.356-18055C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105683343
chr7:105683467 T
T
 C
C
 47 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(44): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0022
a0001c0001t0008g0175
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0044g0110
a0001c0001t0049g0148
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
 47 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(44): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01978.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03130.hp1
HG03471.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp1
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19043.hp1
NA19054.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19086.hp1
NA19087.hp2
 intron_variant MODIFIER c.356-18179A>G
c.356-18179A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105683467
chr7:105683827 C
C
 T
T
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.356-18539G>A
c.356-18539G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105683827
chr7:105684031 T
T
 G
G
 1 a0001c0001t0008g0216
a0001c0001t0008g0216
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.356-18743A>C
c.356-18743A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105684031
chr7:105684187 G
G
 A
A
 6 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(3): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0022g0224
a0001c0001t0037g0065
a0001c0001t0057g0229
 6 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(3): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG02055.hp1
HG02280.hp1
 intron_variant MODIFIER c.356-18899C>T
c.356-18899C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105684187
chr7:105684206 G
G
 T
T
 11 a0001c0001t0004g0246
a0001c0001t0008g0045
a0001c0001t0008g0249
others(8): Show 
a0001c0001t0004g0246
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0018g0094
a0001c0001t0026g0189
a0003c0003t0005g0079
a0004c0013t0036g0107
 11 HG00280.hp1
HG00738.hp1
HG01109.hp1
others(8): Show 
HG00280.hp1
HG00738.hp1
HG01109.hp1
HG01978.hp1
HG06807.hp2
NA18970.hp1
NA19000.hp1
NA19003.hp1
NA19074.hp2
NA19079.hp1
NA20300.hp1
 intron_variant MODIFIER c.356-18918C>A
c.356-18918C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105684206
chr7:105684780 C
C
 T
T
 1 a0001c0001t0003g0100
a0001c0001t0003g0100
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.356-19492G>A
c.356-19492G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105684780
chr7:105684871 C
C
 T
T
 124 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
others(121): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 124 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(121): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-19583G>A
c.356-19583G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105684871
chr7:105684884 T
T
 C
C
 2 a0001c0001t0004g0211
a0001c0001t0016g0139
a0001c0001t0004g0211
a0001c0001t0016g0139
 2 NA18522.hp1
NA18906.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.356-19596A>G
c.356-19596A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105684884
chr7:105685044 G
G
 GATA
GATA
 48 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0205
others(45): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0009g0103
a0001c0001t0011g0143
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0002c0002t0022g0220
a0006c0010t0031g0204
a0007c0009t0007g0096
 48 HG00323.hp2
HG00738.hp1
HG00741.hp2
others(45): Show 
HG00323.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01099.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp2
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02083.hp2
HG02132.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02572.hp2
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02895.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03491.hp1
HG03516.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
NA18943.hp2
NA18962.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19010.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.356-19759_356-1975
others(7): Show 
c.356-19759_356-19757dupTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685044
chr7:105685044 G
G
 GATAATA
GATAATA
 34 a0001c0001t0001g0003
a0001c0001t0001g0074
a0001c0001t0001g0080
others(31): Show 
a0001c0001t0001g0003
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0003g0004
a0001c0001t0003g0090
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0122
a0001c0001t0017g0194
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0008t0014g0165
a0004c0013t0036g0107
 34 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(31): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG01074.hp1
HG01109.hp1
HG01257.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02135.hp1
HG02165.hp2
HG02523.hp2
HG02602.hp1
HG02622.hp1
HG02735.hp2
NA18522.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18970.hp1
NA19000.hp1
NA19003.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19060.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-19762_356-1975
others(10): Show 
c.356-19762_356-19757dupTATTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685044
chr7:105685044 G
G
 GATAATAA
others(2): Show 
GATAATAATA
 4 a0001c0001t0009g0013
a0001c0001t0018g0046
a0001c0001t0044g0110
others(1): Show 
a0001c0001t0009g0013
a0001c0001t0018g0046
a0001c0001t0044g0110
a0003c0003t0005g0079
 4 HG02027.hp2
HG02965.hp1
HG03239.hp2
others(1): Show 
HG02027.hp2
HG02965.hp1
HG03239.hp2
HG06807.hp2
 intron_variant MODIFIER c.356-19765_356-1975
others(13): Show 
c.356-19765_356-19757dupTATTATTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685044
chr7:105685044 GATA
GATA
 G
G
 33 a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0181
others(30): Show 
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0187
a0001c0001t0002g0239
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0139
a0001c0001t0020g0120
a0001c0001t0024g0077
a0001c0001t0026g0234
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0046g0138
 33 HG00673.hp1
HG01069.hp2
HG01081.hp2
others(30): Show 
HG00673.hp1
HG01069.hp2
HG01081.hp2
HG01192.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01934.hp2
HG02015.hp1
HG02015.hp2
HG02129.hp1
HG02148.hp2
HG02572.hp1
HG02818.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18954.hp1
NA18989.hp2
NA18994.hp2
NA19005.hp1
NA19056.hp2
NA19060.hp2
NA19085.hp1
NA19088.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-19759_356-1975
others(7): Show 
c.356-19759_356-19757delTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685044
chr7:105685044 GATAATA
GATAATA
 G
G
 13 a0001c0001t0001g0059
a0001c0001t0001g0119
a0001c0001t0003g0050
others(10): Show 
a0001c0001t0001g0059
a0001c0001t0001g0119
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0004g0198
a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0012g0244
a0001c0001t0015g0060
a0001c0001t0017g0113
a0001c0001t0017g0195
a0003c0003t0020g0199
 13 HG00642.hp2
HG00735.hp1
HG01168.hp1
others(10): Show 
HG00642.hp2
HG00735.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01243.hp2
HG01358.hp1
HG02559.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp1
NA19068.hp1
 intron_variant MODIFIER c.356-19762_356-1975
others(10): Show 
c.356-19762_356-19757delTATTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685044
chr7:105685044 GATAATAA
others(2): Show 
GATAATAATA
 G
G
 37 a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
others(34): Show 
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0003g0029
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0006g0067
a0001c0001t0007g0202
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0083
a0001c0001t0014g0233
a0001c0001t0023g0183
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0004t0010g0154
a0002c0002t0032g0226
 37 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(34): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01346.hp2
HG01516.hp1
HG01952.hp2
HG01981.hp1
HG02027.hp1
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02602.hp2
HG02895.hp1
HG03225.hp2
HG03490.hp1
HG03490.hp2
HG03669.hp1
NA18747.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18995.hp2
NA19003.hp2
NA19005.hp2
NA19066.hp2
NA19067.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
 intron_variant MODIFIER c.356-19765_356-1975
others(13): Show 
c.356-19765_356-19757delTATTATTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685044
chr7:105685044 GATAATAA
others(5): Show 
GATAATAATAATA
 G
G
 3 a0001c0001t0001g0174
a0001c0001t0010g0091
a0001c0001t0022g0224
a0001c0001t0001g0174
a0001c0001t0010g0091
a0001c0001t0022g0224
 3 HG00673.hp2
HG02055.hp1
HG02083.hp1
HG00673.hp2
HG02055.hp1
HG02083.hp1
 intron_variant MODIFIER c.356-19768_356-1975
others(16): Show 
c.356-19768_356-19757delTATTATTATTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685044
chr7:105685044 GATAATAA
others(8): Show 
GATAATAATAATAATA
 G
G
 39 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(36): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0039
a0001c0001t0006g0022
a0001c0001t0008g0175
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0049g0148
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
 39 HG00735.hp2
HG01099.hp1
HG01167.hp2
others(36): Show 
HG00735.hp2
HG01099.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01978.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG03130.hp1
HG03471.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp1
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19054.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19086.hp1
NA19087.hp2
 intron_variant MODIFIER c.356-19771_356-1975
others(19): Show 
c.356-19771_356-19757delTATTATTATTATTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685044
chr7:105685249 C
C
 T
T
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.356-19961G>A
c.356-19961G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685249
chr7:105685252 C
C
 A
A
 3 a0001c0001t0013g0156
a0001c0001t0028g0114
a0001c0001t0044g0110
a0001c0001t0013g0156
a0001c0001t0028g0114
a0001c0001t0044g0110
 3 HG02895.hp2
HG02965.hp1
NA19043.hp1
HG02895.hp2
HG02965.hp1
NA19043.hp1
 intron_variant MODIFIER c.356-19964G>T
c.356-19964G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685252
chr7:105685359 A
A
 C
C
 14 a0001c0001t0001g0059
a0001c0001t0004g0084
a0001c0001t0004g0198
others(11): Show 
a0001c0001t0001g0059
a0001c0001t0004g0084
a0001c0001t0004g0198
a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0012g0244
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0017g0195
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0033g0040
a0003c0003t0020g0199
 14 HG00642.hp2
HG00735.hp1
HG01069.hp2
others(11): Show 
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01081.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01243.hp2
HG01256.hp1
HG01358.hp1
HG01516.hp1
HG02148.hp2
HG03209.hp1
HG03490.hp1
 intron_variant MODIFIER c.356-20071T>G
c.356-20071T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685359
chr7:105685412 G
G
 A
A
 1 a0001c0001t0039g0180
a0001c0001t0039g0180
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.356-20124C>T
c.356-20124C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685412
chr7:105685412 G
G
 C
C
 1 a0001c0001t0026g0234
a0001c0001t0026g0234
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.356-20124C>G
c.356-20124C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685412
chr7:105685592 T
T
 C
C
 145 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
others(142): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 145 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(142): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-20304A>G
c.356-20304A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685592
chr7:105685594 C
C
 A
A
 62 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
others(59): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0061g0036
a0001c0008t0014g0165
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 62 HG00280.hp1
HG00558.hp1
HG00738.hp1
others(59): Show 
HG00280.hp1
HG00558.hp1
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02165.hp2
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02735.hp2
HG02895.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp1
HG03688.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA19000.hp1
NA19003.hp1
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-20306G>T
c.356-20306G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685594
chr7:105685640 C
C
 G
G
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.356-20352G>C
c.356-20352G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685640
chr7:105685684 C
C
 T
T
 54 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
others(51): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0007g0218
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0061g0036
a0001c0008t0014g0165
a0003c0003t0005g0079
a0004c0013t0036g0107
 54 HG00280.hp1
HG00558.hp1
HG00738.hp1
others(51): Show 
HG00280.hp1
HG00558.hp1
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02165.hp2
HG02523.hp1
HG02602.hp1
HG02622.hp1
HG02735.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03688.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA19000.hp1
NA19003.hp1
NA19009.hp2
NA19010.hp1
NA19056.hp1
NA19060.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-20396G>A
c.356-20396G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685684
chr7:105685709 A
A
 G
G
 141 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
others(138): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 141 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(138): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-20421T>C
c.356-20421T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685709
chr7:105685725 C
C
 T
T
 125 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
others(122): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 125 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(122): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-20437G>A
c.356-20437G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685725
chr7:105685816 T
T
 C
C
 145 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
others(142): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 145 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(142): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-20528A>G
c.356-20528A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685816
chr7:105685918 G
G
 A
A
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-20630C>T
c.356-20630C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105685918
chr7:105686093 T
T
 C
C
 3 a0001c0001t0002g0160
a0001c0001t0003g0090
a0001c0001t0018g0046
a0001c0001t0002g0160
a0001c0001t0003g0090
a0001c0001t0018g0046
 3 HG00558.hp1
HG02027.hp2
NA18962.hp1
HG00558.hp1
HG02027.hp2
NA18962.hp1
 intron_variant MODIFIER c.356-20805A>G
c.356-20805A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105686093
chr7:105686132 TA
TA
 T
T
 63 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
others(60): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0084
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0061g0036
a0001c0008t0014g0165
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 63 HG00280.hp1
HG00558.hp1
HG00738.hp1
others(60): Show 
HG00280.hp1
HG00558.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02165.hp2
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02735.hp2
HG02895.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp1
HG03688.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA19000.hp1
NA19003.hp1
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-20845delT
c.356-20845delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105686132
chr7:105686233 G
G
 A
A
 1 a0001c0001t0007g0217
a0001c0001t0007g0217
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.356-20945C>T
c.356-20945C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105686233
chr7:105686626 C
C
 T
T
 3 a0001c0001t0013g0156
a0001c0001t0028g0114
a0001c0001t0044g0110
a0001c0001t0013g0156
a0001c0001t0028g0114
a0001c0001t0044g0110
 3 HG02895.hp2
HG02965.hp1
NA19043.hp1
HG02895.hp2
HG02965.hp1
NA19043.hp1
 intron_variant MODIFIER c.356-21338G>A
c.356-21338G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105686626
chr7:105686627 G
G
 A
A
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.356-21339C>T
c.356-21339C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105686627
chr7:105686636 G
G
 C
C
 61 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
others(58): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0061g0036
a0001c0008t0014g0165
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 61 HG00280.hp1
HG00558.hp1
HG00738.hp1
others(58): Show 
HG00280.hp1
HG00558.hp1
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02165.hp2
HG02523.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02735.hp2
HG02895.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp1
HG03688.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA19000.hp1
NA19003.hp1
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-21348C>G
c.356-21348C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105686636
chr7:105686821 C
C
 T
T
 1 a0001c0001t0001g0163
a0001c0001t0001g0163
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.356-21533G>A
c.356-21533G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105686821
chr7:105686992 C
C
 T
T
 1 a0001c0001t0051g0035
a0001c0001t0051g0035
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.356-21704G>A
c.356-21704G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105686992
chr7:105687083 T
T
 C
C
 59 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
others(56): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0061g0036
a0001c0008t0014g0165
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 59 HG00280.hp1
HG00558.hp1
HG00738.hp1
others(56): Show 
HG00280.hp1
HG00558.hp1
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02165.hp2
HG02523.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02735.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp1
HG03688.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA19000.hp1
NA19003.hp1
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-21795A>G
c.356-21795A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105687083
chr7:105687200 A
A
 G
G
 61 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
others(58): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0061g0036
a0001c0008t0014g0165
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 61 HG00280.hp1
HG00558.hp1
HG00738.hp1
others(58): Show 
HG00280.hp1
HG00558.hp1
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02165.hp2
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02735.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp1
HG03688.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA19000.hp1
NA19003.hp1
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-21912T>C
c.356-21912T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105687200
chr7:105687525 T
T
 C
C
 1 a0001c0001t0008g0045
a0001c0001t0008g0045
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.356-22237A>G
c.356-22237A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105687525
chr7:105687539 G
G
 A
A
 23 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(20): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0004g0219
a0001c0001t0005g0182
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
 23 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(20): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG02055.hp1
HG02135.hp1
HG02280.hp1
HG02523.hp2
HG02572.hp2
HG02723.hp1
HG03239.hp1
HG03491.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-22251C>T
c.356-22251C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105687539
chr7:105687652 A
A
 G
G
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.356-22364T>C
c.356-22364T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105687652
chr7:105687740 C
C
 T
T
 1 a0001c0001t0034g0068
a0001c0001t0034g0068
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.356-22452G>A
c.356-22452G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105687740
chr7:105687745 G
G
 A
A
 22 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(19): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
 22 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(19): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG02055.hp1
HG02135.hp1
HG02280.hp1
HG02523.hp2
HG02572.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-22457C>T
c.356-22457C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105687745
chr7:105687756 A
A
 T
T
 2 a0001c0001t0016g0069
a0002c0002t0030g0212
a0001c0001t0016g0069
a0002c0002t0030g0212
 2 HG03130.hp1
HG03471.hp2
HG03130.hp1
HG03471.hp2
 intron_variant MODIFIER c.356-22468T>A
c.356-22468T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105687756
chr7:105687829 G
G
 A
A
 5 a0001c0001t0008g0075
a0001c0001t0013g0156
a0001c0001t0027g0134
others(2): Show 
a0001c0001t0008g0075
a0001c0001t0013g0156
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0044g0110
 5 HG02895.hp2
HG02965.hp1
HG03130.hp2
others(2): Show 
HG02895.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
NA19043.hp1
 intron_variant MODIFIER c.356-22541C>T
c.356-22541C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105687829
chr7:105687956 G
G
 A
A
 59 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
others(56): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0061g0036
a0001c0008t0014g0165
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 59 HG00280.hp1
HG00558.hp1
HG00738.hp1
others(56): Show 
HG00280.hp1
HG00558.hp1
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02165.hp2
HG02523.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02735.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp1
HG03688.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA19000.hp1
NA19003.hp1
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-22668C>T
c.356-22668C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105687956
chr7:105688101 C
C
 T
T
 1 a0001c0001t0001g0106
a0001c0001t0001g0106
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.356-22813G>A
c.356-22813G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105688101
chr7:105688113 C
C
 G
G
 1 a0001c0001t0013g0236
a0001c0001t0013g0236
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.356-22825G>C
c.356-22825G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105688113
chr7:105688270 G
G
 A
A
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-22982C>T
c.356-22982C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105688270
chr7:105688311 G
G
 A
A
 1 a0001c0001t0016g0061
a0001c0001t0016g0061
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.356-23023C>T
c.356-23023C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105688311
chr7:105688312 C
C
 T
T
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.356-23024G>A
c.356-23024G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105688312
chr7:105688401 G
G
 A
A
 2 a0001c0001t0028g0037
a0001c0006t0001g0112
a0001c0001t0028g0037
a0001c0006t0001g0112
 2 HG02735.hp1
HG03491.hp2
HG02735.hp1
HG03491.hp2
 intron_variant MODIFIER c.356-23113C>T
c.356-23113C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105688401
chr7:105688548 T
T
 TA
TA
 21 a0001c0001t0001g0059
a0001c0001t0001g0102
a0001c0001t0004g0084
others(18): Show 
a0001c0001t0001g0059
a0001c0001t0001g0102
a0001c0001t0004g0084
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0017g0195
a0001c0001t0019g0062
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0028g0114
a0001c0001t0033g0040
a0001c0001t0044g0110
a0003c0003t0020g0199
 21 HG00642.hp2
HG00735.hp1
HG00741.hp2
others(18): Show 
HG00642.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp2
HG01081.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01243.hp2
HG01256.hp1
HG01358.hp1
HG01516.hp1
HG02056.hp1
HG02148.hp2
HG02723.hp1
HG02895.hp2
HG02965.hp1
HG03209.hp1
HG03490.hp1
NA18989.hp1
NA19043.hp1
 intron_variant MODIFIER c.356-23261dupT
c.356-23261dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105688548
chr7:105688667 C
C
 G
G
 212 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
others(209): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 212 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(209): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-23379G>C
c.356-23379G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105688667
chr7:105688685 C
C
 T
T
 1 a0001c0001t0018g0131
a0001c0001t0018g0131
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.356-23397G>A
c.356-23397G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105688685
chr7:105688777 G
G
 A
A
 1 a0003c0003t0005g0079
a0003c0003t0005g0079
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.356-23489C>T
c.356-23489C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105688777
chr7:105688779 C
C
 G
G
 3 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0004g0219
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0004g0219
 3 HG02280.hp2
HG02451.hp2
HG02723.hp1
HG02280.hp2
HG02451.hp2
HG02723.hp1
 intron_variant MODIFIER c.356-23491G>C
c.356-23491G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105688779
chr7:105688846 C
C
 T
T
 4 a0001c0001t0002g0053
a0001c0001t0003g0171
a0001c0001t0009g0020
others(1): Show 
a0001c0001t0002g0053
a0001c0001t0003g0171
a0001c0001t0009g0020
a0001c0001t0014g0233
 4 HG01952.hp2
HG01981.hp1
HG02300.hp1
others(1): Show 
HG01952.hp2
HG01981.hp1
HG02300.hp1
NA19005.hp2
 intron_variant MODIFIER c.356-23558G>A
c.356-23558G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105688846
chr7:105688993 T
T
 C
C
 3 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0144
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0144
 3 HG02280.hp2
HG02451.hp2
NA20129.hp2
HG02280.hp2
HG02451.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-23705A>G
c.356-23705A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105688993
chr7:105688996 A
A
 T
T
 3 a0001c0001t0013g0156
a0001c0001t0028g0114
a0001c0001t0044g0110
a0001c0001t0013g0156
a0001c0001t0028g0114
a0001c0001t0044g0110
 3 HG02895.hp2
HG02965.hp1
NA19043.hp1
HG02895.hp2
HG02965.hp1
NA19043.hp1
 intron_variant MODIFIER c.356-23708T>A
c.356-23708T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105688996
chr7:105689202 G
G
 C
C
 1 a0001c0001t0003g0011
a0001c0001t0003g0011
 1 NA18943.hp1
NA18943.hp1
 intron_variant MODIFIER c.356-23914C>G
c.356-23914C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105689202
chr7:105689222 C
C
 T
T
 2 a0001c0001t0006g0116
a0001c0001t0021g0227
a0001c0001t0006g0116
a0001c0001t0021g0227
 2 HG02622.hp2
NA19043.hp2
HG02622.hp2
NA19043.hp2
 intron_variant MODIFIER c.356-23934G>A
c.356-23934G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105689222
chr7:105689286 G
G
 A
A
 3 a0001c0001t0013g0156
a0001c0001t0028g0114
a0001c0001t0044g0110
a0001c0001t0013g0156
a0001c0001t0028g0114
a0001c0001t0044g0110
 3 HG02895.hp2
HG02965.hp1
NA19043.hp1
HG02895.hp2
HG02965.hp1
NA19043.hp1
 intron_variant MODIFIER c.356-23998C>T
c.356-23998C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105689286
chr7:105689479 A
A
 G
G
 1 a0001c0001t0061g0036
a0001c0001t0061g0036
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.356-24191T>C
c.356-24191T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105689479
chr7:105689525 T
T
 C
C
 1 a0001c0001t0024g0250
a0001c0001t0024g0250
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.356-24237A>G
c.356-24237A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105689525
chr7:105689531 C
C
 T
T
 1 a0001c0001t0002g0173
a0001c0001t0002g0173
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.356-24243G>A
c.356-24243G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105689531
chr7:105689609 G
G
 A
A
 176 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(173): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0135
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 176 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(173): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-24321C>T
c.356-24321C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105689609
chr7:105689620 G
G
 T
T
 179 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(176): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0135
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 179 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(176): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-24332C>A
c.356-24332C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105689620
chr7:105689649 C
C
 G
G
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-24361G>C
c.356-24361G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105689649
chr7:105689736 G
G
 A
A
 1 a0001c0001t0037g0065
a0001c0001t0037g0065
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.356-24448C>T
c.356-24448C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105689736
chr7:105690067 C
C
 T
T
 1 a0001c0001t0050g0155
a0001c0001t0050g0155
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.356-24779G>A
c.356-24779G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105690067
chr7:105690211 G
G
 A
A
 22 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(19): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
 22 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(19): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG02055.hp1
HG02135.hp1
HG02280.hp1
HG02523.hp2
HG02572.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-24923C>T
c.356-24923C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105690211
chr7:105690233 G
G
 A
A
 1 a0001c0001t0017g0213
a0001c0001t0017g0213
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.356-24945C>T
c.356-24945C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105690233
chr7:105690354 C
C
 A
A
 2 a0001c0001t0021g0130
a0001c0001t0055g0252
a0001c0001t0021g0130
a0001c0001t0055g0252
 2 HG01884.hp1
NA19240.hp2
HG01884.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-25066G>T
c.356-25066G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105690354
chr7:105690421 T
T
 C
C
 3 a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0019g0178
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0019g0178
 3 HG01934.hp1
HG01943.hp1
HG02602.hp1
HG01934.hp1
HG01943.hp1
HG02602.hp1
 intron_variant MODIFIER c.356-25133A>G
c.356-25133A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105690421
chr7:105690444 C
C
 T
T
 1 a0001c0001t0002g0162
a0001c0001t0002g0162
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.356-25156G>A
c.356-25156G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105690444
chr7:105690927 T
T
 C
C
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.356-25639A>G
c.356-25639A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105690927
chr7:105690933 C
C
 T
T
 5 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(2): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0062g0007
 5 NA18971.hp2
NA18994.hp1
NA19000.hp2
others(2): Show 
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
 intron_variant MODIFIER c.356-25645G>A
c.356-25645G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105690933
chr7:105691293 G
G
 T
T
 5 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(2): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0062g0007
 5 NA18971.hp2
NA18994.hp1
NA19000.hp2
others(2): Show 
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
 intron_variant MODIFIER c.356-26005C>A
c.356-26005C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105691293
chr7:105691372 A
A
 C
C
 113 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(110): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0212
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
 113 HG00280.hp1
HG00558.hp1
HG00642.hp2
others(110): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02523.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02735.hp1
HG02735.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19000.hp1
NA19003.hp1
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-26084T>G
c.356-26084T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105691372
chr7:105691658 TA
TA
 T
T
 198 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(195): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 198 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(195): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-26371delT
c.356-26371delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105691658
chr7:105691672 A
A
 G
G
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.356-26384T>C
c.356-26384T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105691672
chr7:105691673 G
G
 A
A
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.356-26385C>T
c.356-26385C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105691673
chr7:105691746 C
C
 G
G
 70 a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
others(67): Show 
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0137
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0010g0228
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0232
a0001c0001t0014g0083
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0027g0134
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0004t0010g0154
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0007c0009t0007g0096
 70 HG00280.hp2
HG00323.hp2
HG00558.hp2
others(67): Show 
HG00280.hp2
HG00323.hp2
HG00558.hp2
HG00642.hp1
HG01074.hp2
HG01081.hp1
HG01167.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp2
HG01346.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01981.hp1
HG02027.hp1
HG02056.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03942.hp1
HG06807.hp1
NA18747.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18995.hp2
NA19003.hp2
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19240.hp1
 intron_variant MODIFIER c.356-26458G>C
c.356-26458G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105691746
chr7:105691786 G
G
 A
A
 1 a0002c0002t0032g0226
a0002c0002t0032g0226
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.356-26498C>T
c.356-26498C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105691786
chr7:105691832 C
C
 T
T
 16 a0001c0001t0001g0059
a0001c0001t0002g0239
a0001c0001t0004g0084
others(13): Show 
a0001c0001t0001g0059
a0001c0001t0002g0239
a0001c0001t0004g0084
a0001c0001t0004g0198
a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0017g0195
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0033g0040
a0003c0003t0020g0199
 16 HG00642.hp2
HG00735.hp1
HG01069.hp2
others(13): Show 
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01081.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01243.hp2
HG01256.hp1
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG02148.hp2
HG03209.hp1
HG03490.hp1
 intron_variant MODIFIER c.356-26544G>A
c.356-26544G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105691832
chr7:105692009 A
A
 G
G
 36 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(33): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0039
a0001c0001t0008g0175
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0049g0148
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0005c0011t0008g0092
 36 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(33): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01978.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02735.hp1
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG04199.hp1
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19054.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19086.hp1
NA19087.hp2
 intron_variant MODIFIER c.356-26721T>C
c.356-26721T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692009
chr7:105692265 G
G
 A
A
 3 a0001c0001t0001g0003
a0001c0001t0009g0013
a0001c0001t0061g0036
a0001c0001t0001g0003
a0001c0001t0009g0013
a0001c0001t0061g0036
 3 HG01099.hp2
HG02735.hp2
HG03239.hp2
HG01099.hp2
HG02735.hp2
HG03239.hp2
 intron_variant MODIFIER c.356-26977C>T
c.356-26977C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692265
chr7:105692288 G
G
 T
T
 155 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(152): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
 155 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(152): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-27000C>A
c.356-27000C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692288
chr7:105692362 T
T
 TTTTTCTT
others(3): Show 
TTTTTCTTTCC
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.356-27075_356-2707
others(14): Show 
c.356-27075_356-27074insGGAAAGAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692362
chr7:105692366 T
T
 C
C
 2 a0001c0001t0007g0202
a0001c0001t0056g0210
a0001c0001t0007g0202
a0001c0001t0056g0210
 2 HG02895.hp1
HG03225.hp2
HG02895.hp1
HG03225.hp2
 intron_variant MODIFIER c.356-27078A>G
c.356-27078A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692366
chr7:105692370 T
T
 C
C
 2 a0001c0001t0007g0202
a0001c0001t0056g0210
a0001c0001t0007g0202
a0001c0001t0056g0210
 2 HG02895.hp1
HG03225.hp2
HG02895.hp1
HG03225.hp2
 intron_variant MODIFIER c.356-27082A>G
c.356-27082A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692370
chr7:105692370 T
T
 TTTCC
TTTCC
 26 a0001c0001t0001g0059
a0001c0001t0001g0145
a0001c0001t0001g0201
others(23): Show 
a0001c0001t0001g0059
a0001c0001t0001g0145
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0049
a0001c0001t0003g0070
a0001c0001t0005g0126
a0001c0001t0006g0022
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0016g0136
a0001c0001t0017g0195
a0001c0001t0020g0120
a0001c0001t0024g0250
a0001c0001t0026g0234
a0001c0001t0050g0155
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0004t0010g0154
a0001c0005t0007g0209
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0033g0221
a0003c0003t0020g0199
 26 HG00642.hp2
HG01192.hp1
HG01358.hp1
others(23): Show 
HG00642.hp2
HG01192.hp1
HG01358.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02015.hp2
HG02056.hp1
HG02148.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02647.hp2
HG02738.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG03209.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp2
NA18995.hp2
NA19003.hp2
NA19079.hp2
NA19085.hp2
 intron_variant MODIFIER c.356-27086_356-2708
others(8): Show 
c.356-27086_356-27083dupGGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692370
chr7:105692370 T
T
 TTTCCTTC
others(1): Show 
TTTCCTTCC
 8 a0001c0001t0002g0162
a0001c0001t0003g0171
a0001c0001t0004g0084
others(5): Show 
a0001c0001t0002g0162
a0001c0001t0003g0171
a0001c0001t0004g0084
a0001c0001t0004g0137
a0001c0001t0014g0233
a0001c0001t0033g0040
a0001c0001t0052g0133
a0006c0010t0031g0204
 8 HG01069.hp2
HG01081.hp2
HG01952.hp2
others(5): Show 
HG01069.hp2
HG01081.hp2
HG01952.hp2
HG02300.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
NA19054.hp1
 intron_variant MODIFIER c.356-27090_356-2708
others(12): Show 
c.356-27090_356-27083dupGGAAGGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692370
chr7:105692370 T
T
 TTTCCTTC
others(5): Show 
TTTCCTTCCTTCC
 6 a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0075
others(3): Show 
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0009g0020
a0001c0001t0015g0019
a0002c0002t0059g0200
 6 HG01981.hp1
HG02965.hp2
HG03041.hp1
others(3): Show 
HG01981.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03942.hp1
 intron_variant MODIFIER c.356-27094_356-2708
others(16): Show 
c.356-27094_356-27083dupGGAAGGAAGGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692370
chr7:105692370 T
T
 TTTCCTTC
others(9): Show 
TTTCCTTCCTTCCTTCC
 1 a0001c0001t0021g0184
a0001c0001t0021g0184
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.356-27098_356-2708
others(20): Show 
c.356-27098_356-27083dupGGAAGGAAGGAAGGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692370
chr7:105692370 T
T
 TTTCTTTC
others(9): Show 
TTTCTTTCCTTCCTTCC
 1 a0001c0001t0002g0053
a0001c0001t0002g0053
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.356-27083_356-2708
others(20): Show 
c.356-27083_356-27082insGGAAGGAAGGAAAGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692370
chr7:105692370 TTTCC
TTTCC
 T
T
 32 a0001c0001t0001g0082
a0001c0001t0001g0106
a0001c0001t0002g0021
others(29): Show 
a0001c0001t0001g0082
a0001c0001t0001g0106
a0001c0001t0002g0021
a0001c0001t0002g0142
a0001c0001t0002g0167
a0001c0001t0002g0239
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0005g0025
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0010g0051
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0019g0063
a0001c0001t0019g0230
a0001c0001t0024g0077
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0040g0207
a0001c0001t0051g0035
a0007c0009t0007g0096
 32 HG00642.hp1
HG00673.hp1
HG00741.hp1
others(29): Show 
HG00642.hp1
HG00673.hp1
HG00741.hp1
HG01081.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG02132.hp1
HG02155.hp2
HG02300.hp2
HG02451.hp1
HG02630.hp2
HG02738.hp2
HG03098.hp2
HG03139.hp1
HG03942.hp2
NA19005.hp1
NA19030.hp1
NA19043.hp1
NA19067.hp1
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
 intron_variant MODIFIER c.356-27086_356-2708
others(8): Show 
c.356-27086_356-27083delGGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692370
chr7:105692370 TTTCCTTC
others(1): Show 
TTTCCTTCC
 T
T
 9 a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
others(6): Show 
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0003g0050
a0001c0001t0005g0014
a0001c0001t0006g0034
a0001c0001t0013g0243
 9 HG01515.hp1
HG02071.hp1
HG02129.hp1
others(6): Show 
HG01515.hp1
HG02071.hp1
HG02129.hp1
HG02155.hp1
NA18954.hp2
NA18989.hp2
NA18994.hp2
NA19060.hp2
NA19068.hp1
 intron_variant MODIFIER c.356-27090_356-2708
others(12): Show 
c.356-27090_356-27083delGGAAGGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692370
chr7:105692403 T
T
 TTCCCTCC
others(1): Show 
TTCCCTCCC
 3 a0001c0001t0001g0174
a0001c0001t0006g0116
a0001c0001t0010g0091
a0001c0001t0001g0174
a0001c0001t0006g0116
a0001c0001t0010g0091
 3 HG00673.hp2
HG02083.hp1
NA19043.hp2
HG00673.hp2
HG02083.hp1
NA19043.hp2
 intron_variant MODIFIER c.356-27116_356-2711
others(12): Show 
c.356-27116_356-27115insGGGAGGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692403
chr7:105692403 T
T
 TTCCTTCC
others(13): Show 
TTCCTTCCTTCCTTCCCTCCC
 1 a0001c0001t0021g0227
a0001c0001t0021g0227
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.356-27116_356-2711
others(24): Show 
c.356-27116_356-27115insGGGAGGGAAGGAAGGAAGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692403
chr7:105692403 T
T
 TTCCTTCC
others(17): Show 
TTCCTTCCTTCCTTCCTTCCCTCCC
 3 a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0017g0194
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0017g0194
 3 HG01074.hp1
HG02055.hp2
NA19060.hp1
HG01074.hp1
HG02055.hp2
NA19060.hp1
 intron_variant MODIFIER c.356-27116_356-2711
others(28): Show 
c.356-27116_356-27115insGGGAGGGAAGGAAGGAAGGAAGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692403
chr7:105692407 T
T
 C
C
 2 a0001c0001t0001g0174
a0001c0001t0010g0091
a0001c0001t0001g0174
a0001c0001t0010g0091
 2 HG00673.hp2
HG02083.hp1
HG00673.hp2
HG02083.hp1
 intron_variant MODIFIER c.356-27119A>G
c.356-27119A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692407
chr7:105692407 T
T
 TTCCTTCC
others(9): Show 
TTCCTTCCCTCCCTCCC
 2 a0001c0001t0008g0175
a0001c0001t0016g0176
a0001c0001t0008g0175
a0001c0001t0016g0176
 2 HG01192.hp2
NA19067.hp2
HG01192.hp2
NA19067.hp2
 intron_variant MODIFIER c.356-27120_356-2711
others(20): Show 
c.356-27120_356-27119insGGGAGGGAGGGAAGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692407
chr7:105692407 T
T
 TTCCTTCC
others(13): Show 
TTCCTTCCTTCCCTCCCTCCC
 19 a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
others(16): Show 
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0016g0061
a0001c0001t0049g0148
a0001c0001t0064g0098
a0005c0011t0008g0092
 19 HG00735.hp2
HG01099.hp1
HG01346.hp1
others(16): Show 
HG00735.hp2
HG01099.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01952.hp1
HG01978.hp2
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG03669.hp2
HG03831.hp2
HG04199.hp1
NA18943.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19066.hp1
 intron_variant MODIFIER c.356-27120_356-2711
others(24): Show 
c.356-27120_356-27119insGGGAGGGAGGGAAGGAAGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692407
chr7:105692407 T
T
 TTCCTTCC
others(17): Show 
TTCCTTCCTTCCTTCCCTCCCTCCC
 8 a0001c0001t0003g0071
a0001c0001t0003g0118
a0001c0001t0004g0039
others(5): Show 
a0001c0001t0003g0071
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0009g0146
a0001c0001t0014g0123
a0001c0001t0019g0062
a0001c0001t0063g0041
a0001c0007t0038g0158
 8 HG00741.hp2
HG01167.hp2
HG01169.hp2
others(5): Show 
HG00741.hp2
HG01167.hp2
HG01169.hp2
HG01943.hp2
HG02145.hp2
HG03471.hp1
NA19086.hp1
NA19087.hp2
 intron_variant MODIFIER c.356-27120_356-2711
others(28): Show 
c.356-27120_356-27119insGGGAGGGAGGGAAGGAAGGAAGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692407
chr7:105692407 T
T
 TTCCTTCC
others(17): Show 
TTCCTTCCTTCCTTCCTTCCCTCCC
 2 a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0009
a0001c0001t0001g0044
 2 NA18954.hp1
NA19056.hp2
NA18954.hp1
NA19056.hp2
 intron_variant MODIFIER c.356-27120_356-2711
others(28): Show 
c.356-27120_356-27119insGGGAGGGAAGGAAGGAAGGAAGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692407
chr7:105692407 T
T
 TTCCTTCC
others(21): Show 
TTCCTTCCTTCCTTCCTTCCTTCCCTCCC
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.356-27120_356-2711
others(32): Show 
c.356-27120_356-27119insGGGAGGGAAGGAAGGAAGGAAGGAAG
GA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692407
chr7:105692411 T
T
 TTCCTTCC
others(17): Show 
TTCCTTCCTTCCCTCCCTCCCTCCC
 2 a0001c0001t0002g0186
a0001c0012t0003g0047
a0001c0001t0002g0186
a0001c0012t0003g0047
 2 NA18945.hp1
NA19054.hp2
NA18945.hp1
NA19054.hp2
 intron_variant MODIFIER c.356-27124_356-2712
others(28): Show 
c.356-27124_356-27123insGGGAGGGAGGGAGGGAAGGAAGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692411
chr7:105692411 T
T
 TTCCTTCC
others(17): Show 
TTCCTTCCTTCCTTCCCTCCCTCCC
 2 a0001c0001t0003g0150
a0001c0001t0037g0065
a0001c0001t0003g0150
a0001c0001t0037g0065
 2 HG01069.hp1
HG02280.hp1
HG01069.hp1
HG02280.hp1
 intron_variant MODIFIER c.356-27124_356-2712
others(28): Show 
c.356-27124_356-27123insGGGAGGGAGGGAAGGAAGGAAGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692411
chr7:105692411 T
T
 TTCCTTCC
others(25): Show 
TTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC
 1 a0001c0001t0005g0182
a0001c0001t0005g0182
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.356-27124_356-2712
others(36): Show 
c.356-27124_356-27123insGGGAGGGAGGGAAGGAAGGAAGGAAG
GAAGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692411
chr7:105692416 TCCTTCCT
others(5): Show 
TCCTTCCTTCCTC
 T
T
 5 a0001c0001t0001g0181
a0001c0001t0004g0135
a0001c0001t0034g0068
others(2): Show 
a0001c0001t0001g0181
a0001c0001t0004g0135
a0001c0001t0034g0068
a0001c0001t0046g0138
a0002c0002t0022g0220
 5 HG02572.hp1
HG02723.hp2
HG02818.hp1
others(2): Show 
HG02572.hp1
HG02723.hp2
HG02818.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-27140_356-2712
others(16): Show 
c.356-27140_356-27129delGAGGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692416
chr7:105692420 T
T
 TCCCTCCC
others(21): Show 
TCCCTCCCTCCCTCCTTCCTTCCTTCCTC
 1 a0001c0001t0013g0251
a0001c0001t0013g0251
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.356-27133_356-2713
others(32): Show 
c.356-27133_356-27132insGAGGAAGGAAGGAAGGAGGGAGGGAG
GG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692420
chr7:105692420 TCCTTCCT
others(1): Show 
TCCTTCCTC
 T
T
 3 a0001c0001t0017g0213
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0017g0213
a0001c0001t0025g0104
a0001c0001t0025g0240
 3 HG01516.hp1
HG02630.hp1
HG03490.hp1
HG01516.hp1
HG02630.hp1
HG03490.hp1
 intron_variant MODIFIER c.356-27140_356-2713
others(12): Show 
c.356-27140_356-27133delGAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692420
chr7:105692424 T
T
 C
C
 39 a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
others(36): Show 
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0071
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0116
a0001c0001t0008g0175
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0019g0062
a0001c0001t0021g0227
a0001c0001t0049g0148
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0007t0038g0158
a0001c0012t0003g0047
a0005c0011t0008g0092
 39 HG00673.hp2
HG00735.hp2
HG00741.hp2
others(36): Show 
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01099.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01978.hp2
HG02055.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02622.hp2
HG03471.hp1
HG03669.hp2
HG03831.hp2
HG04199.hp1
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19086.hp1
NA19087.hp2
NA20300.hp1
 intron_variant MODIFIER c.356-27136A>G
c.356-27136A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCCTCCC
others(21): Show 
TCCCTCCCTCCCTCCTTCCTTCCTTCCTC
 6 a0001c0001t0001g0017
a0001c0001t0003g0147
a0001c0001t0028g0037
others(3): Show 
a0001c0001t0001g0017
a0001c0001t0003g0147
a0001c0001t0028g0037
a0001c0001t0057g0229
a0001c0001t0061g0036
a0001c0006t0001g0112
 6 HG01099.hp2
HG01255.hp2
HG02735.hp1
others(3): Show 
HG01099.hp2
HG01255.hp2
HG02735.hp1
HG03491.hp2
HG03688.hp2
NA19068.hp2
 intron_variant MODIFIER c.356-27137_356-2713
others(32): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGGAG
GG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCCTCCC
others(17): Show 
TCCCTCCCTCCTTCCTTCCTTCCTC
 1 a0002c0002t0030g0212
a0002c0002t0030g0212
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.356-27137_356-2713
others(28): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCCTCCC
others(21): Show 
TCCCTCCCTCCTTCCTTCCTTCCTTCCTC
 7 a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0007g0223
others(4): Show 
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0007g0223
a0001c0001t0017g0113
a0001c0001t0018g0131
a0001c0001t0027g0008
a0001c0001t0048g0132
 7 HG02523.hp2
HG03139.hp2
HG03209.hp2
others(4): Show 
HG02523.hp2
HG03139.hp2
HG03209.hp2
HG03516.hp1
HG03688.hp1
NA18747.hp1
NA18957.hp2
 intron_variant MODIFIER c.356-27137_356-2713
others(32): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAAGGAGGGAG
GG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTC
TCCTC
 3 a0001c0001t0001g0085
a0001c0001t0011g0101
a0001c0001t0044g0110
a0001c0001t0001g0085
a0001c0001t0011g0101
a0001c0001t0044g0110
 3 HG02965.hp1
NA18945.hp2
NA18950.hp2
HG02965.hp1
NA18945.hp2
NA18950.hp2
 intron_variant MODIFIER c.356-27140_356-2713
others(8): Show 
c.356-27140_356-27137dupGAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCC
others(25): Show 
TCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTC
 1 a0001c0001t0055g0252
a0001c0001t0055g0252
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(36): Show 
c.356-27137_356-27136insGAGGAAGGAGGGAGGGAGGGAGGGAG
GGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCC
others(29): Show 
TCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTC
 1 a0001c0001t0016g0139
a0001c0001t0016g0139
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(40): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGGAG
GGAGGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCC
others(25): Show 
TCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTC
 6 a0001c0001t0001g0003
a0001c0001t0004g0211
a0001c0001t0018g0058
others(3): Show 
a0001c0001t0001g0003
a0001c0001t0004g0211
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0031g0172
 6 HG01257.hp2
HG01258.hp1
HG02055.hp1
others(3): Show 
HG01257.hp2
HG01258.hp1
HG02055.hp1
HG02572.hp2
HG02735.hp2
NA18522.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(36): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGGAG
GGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCC
others(29): Show 
TCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTCCCTC
 2 a0001c0001t0005g0027
a0001c0001t0011g0012
a0001c0001t0005g0027
a0001c0001t0011g0012
 2 HG01934.hp2
NA18970.hp1
HG01934.hp2
NA18970.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(40): Show 
c.356-27137_356-27136insGAGGGAGGAAGGAAGGAAGGAGGGAG
GGAGGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCC
others(29): Show 
TCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTC
 2 a0001c0001t0045g0190
a0001c0001t0058g0018
a0001c0001t0045g0190
a0001c0001t0058g0018
 2 HG01891.hp2
HG03831.hp1
HG01891.hp2
HG03831.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(40): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAAGGAGGGAG
GGAGGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCC
others(21): Show 
TCCTTCCCTCCCTCCTTCCTTCCTTCCTC
 1 a0001c0001t0009g0013
a0001c0001t0009g0013
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.356-27137_356-2713
others(32): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGGAA
GG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCC
others(25): Show 
TCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTC
 14 a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
others(11): Show 
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0006g0024
a0001c0001t0008g0015
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0019g0178
a0001c0001t0043g0105
a0001c0008t0014g0165
 14 HG01934.hp1
HG02083.hp2
HG02165.hp2
others(11): Show 
HG01934.hp1
HG02083.hp2
HG02165.hp2
HG02602.hp1
HG03239.hp1
HG03491.hp1
HG04199.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp2
NA19074.hp1
NA19091.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(36): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAAGGAGGGAG
GGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCC
others(29): Show 
TCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTCCCTC
 3 a0001c0001t0010g0095
a0001c0001t0013g0236
a0004c0013t0036g0107
a0001c0001t0010g0095
a0001c0001t0013g0236
a0004c0013t0036g0107
 3 HG00280.hp1
HG00738.hp1
NA19000.hp1
HG00280.hp1
HG00738.hp1
NA19000.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(40): Show 
c.356-27137_356-27136insGAGGGAGGAAGGAAGGAAGGAAGGAG
GGAGGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(5): Show 
TCCTTCCTCCCTC
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(16): Show 
c.356-27137_356-27136insGAGGGAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(29): Show 
TCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTC
 1 a0001c0001t0021g0130
a0001c0001t0021g0130
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.356-27137_356-2713
others(40): Show 
c.356-27137_356-27136insGAGGAAGGAGGGAGGGAGGGAGGGAG
GGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(29): Show 
TCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTC
 6 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(3): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0090
a0001c0001t0062g0007
 6 HG00558.hp1
NA18971.hp2
NA18994.hp1
others(3): Show 
HG00558.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
 intron_variant MODIFIER c.356-27137_356-2713
others(40): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGGAG
GGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(33): Show 
TCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTCCCTC
 1 a0001c0001t0018g0094
a0001c0001t0018g0094
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(44): Show 
c.356-27137_356-27136insGAGGGAGGAAGGAAGGAAGGAGGGAG
GGAGGGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(33): Show 
TCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTC
 2 a0001c0001t0011g0143
a0001c0001t0023g0247
a0001c0001t0011g0143
a0001c0001t0023g0247
 2 HG02135.hp1
NA19091.hp2
HG02135.hp1
NA19091.hp2
 intron_variant MODIFIER c.356-27137_356-2713
others(44): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAAGGAGGGAG
GGAGGGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(29): Show 
TCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTC
 7 a0001c0001t0002g0153
a0001c0001t0004g0203
a0001c0001t0006g0001
others(4): Show 
a0001c0001t0002g0153
a0001c0001t0004g0203
a0001c0001t0006g0001
a0001c0001t0008g0089
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0035g0151
 7 HG01943.hp1
HG01981.hp2
HG02056.hp2
others(4): Show 
HG01943.hp1
HG01981.hp2
HG02056.hp2
HG02523.hp1
HG02622.hp1
NA19056.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(40): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAAGGAGGGAG
GGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(33): Show 
TCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTCCCTC
 2 a0001c0001t0026g0189
a0003c0003t0005g0079
a0001c0001t0026g0189
a0003c0003t0005g0079
 2 HG01109.hp1
HG06807.hp2
HG01109.hp1
HG06807.hp2
 intron_variant MODIFIER c.356-27137_356-2713
others(44): Show 
c.356-27137_356-27136insGAGGGAGGAAGGAAGGAAGGAAGGAG
GGAGGGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(5): Show 
TCCTTCCTTCCTC
 1 a0002c0002t0022g0066
a0002c0002t0022g0066
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(16): Show 
c.356-27137_356-27136insGAGGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(33): Show 
TCCTTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTC
 3 a0001c0001t0001g0185
a0001c0001t0042g0161
a0001c0001t0060g0192
a0001c0001t0001g0185
a0001c0001t0042g0161
a0001c0001t0060g0192
 3 HG02145.hp1
NA19009.hp2
NA19010.hp1
HG02145.hp1
NA19009.hp2
NA19010.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(44): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGGAG
GGAAGGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(37): Show 
TCCTTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTCCCTC
 2 a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0008g0045
a0001c0001t0008g0249
 2 NA19074.hp2
NA19079.hp1
NA19074.hp2
NA19079.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(48): Show 
c.356-27137_356-27136insGAGGGAGGAAGGAAGGAAGGAGGGAG
GGAGGGAAGGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(29): Show 
TCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTC
 1 a0001c0001t0016g0069
a0001c0001t0016g0069
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(40): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAGGGAGGGAA
GGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(33): Show 
TCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTCCCTC
 1 a0001c0001t0002g0160
a0001c0001t0002g0160
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(44): Show 
c.356-27137_356-27136insGAGGGAGGAAGGAAGGAAGGAGGGAG
GGAAGGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(33): Show 
TCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTC
 4 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0003g0043
others(1): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0003g0043
a0001c0001t0005g0159
 4 HG01516.hp2
HG01517.hp1
HG02071.hp2
others(1): Show 
HG01516.hp2
HG01517.hp1
HG02071.hp2
HG02132.hp2
 intron_variant MODIFIER c.356-27137_356-2713
others(44): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAAGGAGGGAG
GGAAGGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(33): Show 
TCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTC
 1 a0001c0001t0018g0046
a0001c0001t0018g0046
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.356-27137_356-2713
others(44): Show 
c.356-27137_356-27136insGAGGAAGGAAGGAAGGAAGGAAGGAG
GGAAGGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692424 T
T
 TCCTTCCT
others(45): Show 
TCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTCC
CTC
 1 a0001c0001t0004g0246
a0001c0001t0004g0246
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.356-27137_356-2713
others(56): Show 
c.356-27137_356-27136insGAGGGAGGAAGGAAGGAAGGAGGGAG
GGAGGGAAGGAAGGAAGGAAGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692424
chr7:105692428 C
C
 T
T
 4 a0001c0001t0004g0127
a0001c0001t0008g0073
a0001c0001t0012g0028
others(1): Show 
a0001c0001t0004g0127
a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0013g0156
 4 HG01168.hp2
HG01169.hp1
HG02895.hp2
others(1): Show 
HG01168.hp2
HG01169.hp1
HG02895.hp2
HG03669.hp1
 intron_variant MODIFIER c.356-27140G>A
c.356-27140G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692428
chr7:105692448 T
T
 C
C
 1 a0001c0001t0017g0213
a0001c0001t0017g0213
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.356-27160A>G
c.356-27160A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692448
chr7:105692469 T
T
 G
G
 1 a0001c0001t0004g0128
a0001c0001t0004g0128
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.356-27181A>C
c.356-27181A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692469
chr7:105692507 C
C
 T
T
 37 a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
others(34): Show 
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0163
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0083
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0023g0183
a0001c0001t0029g0072
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0004t0010g0154
 37 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(34): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01346.hp2
HG01952.hp2
HG01981.hp1
HG02027.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02602.hp2
HG02738.hp1
HG02738.hp2
HG03490.hp2
HG03669.hp1
HG03942.hp1
NA18747.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18995.hp2
NA19003.hp2
NA19005.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
 intron_variant MODIFIER c.356-27219G>A
c.356-27219G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692507
chr7:105692603 C
C
 T
T
 30 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0181
others(27): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0004g0135
a0001c0001t0005g0126
a0001c0001t0006g0034
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
a0001c0001t0034g0068
a0001c0001t0046g0138
 30 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(27): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02015.hp2
HG02071.hp1
HG02129.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02818.hp1
HG03942.hp2
NA18989.hp2
NA18994.hp2
NA19005.hp1
NA19060.hp2
NA19085.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.356-27315G>A
c.356-27315G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692603
chr7:105692667 G
G
 A
A
 154 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(151): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
 154 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(151): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-27379C>T
c.356-27379C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692667
chr7:105692991 T
T
 A
A
 1 a0001c0001t0051g0035
a0001c0001t0051g0035
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.356-27703A>T
c.356-27703A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105692991
chr7:105693166 G
G
 A
A
 1 a0001c0001t0002g0016
a0001c0001t0002g0016
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.356-27878C>T
c.356-27878C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693166
chr7:105693265 C
C
 T
T
 1 a0001c0001t0003g0238
a0001c0001t0003g0238
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.356-27977G>A
c.356-27977G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693265
chr7:105693268 T
T
 C
C
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.356-27980A>G
c.356-27980A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693268
chr7:105693275 T
T
 A
A
 43 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(40): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0039
a0001c0001t0004g0135
a0001c0001t0008g0175
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0034g0068
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0005c0011t0008g0092
 43 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(40): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp2
HG01952.hp1
HG01978.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02572.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG03130.hp1
HG03471.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG04199.hp1
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19054.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19086.hp1
NA19087.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-27987A>T
c.356-27987A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693275
chr7:105693322 G
G
 T
T
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.356-28034C>A
c.356-28034C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693322
chr7:105693439 G
G
 A
A
 11 a0001c0001t0004g0246
a0001c0001t0008g0045
a0001c0001t0008g0249
others(8): Show 
a0001c0001t0004g0246
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0018g0094
a0001c0001t0026g0189
a0003c0003t0005g0079
a0004c0013t0036g0107
 11 HG00280.hp1
HG00738.hp1
HG01109.hp1
others(8): Show 
HG00280.hp1
HG00738.hp1
HG01109.hp1
HG01978.hp1
HG06807.hp2
NA18970.hp1
NA19000.hp1
NA19003.hp1
NA19074.hp2
NA19079.hp1
NA20300.hp1
 intron_variant MODIFIER c.356-28151C>T
c.356-28151C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693439
chr7:105693534 CCCAT
CCCAT
 C
C
 60 a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
others(57): Show 
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0001g0214
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0137
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0013g0156
a0001c0001t0014g0083
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0044g0110
a0001c0001t0047g0121
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0054g0087
a0001c0004t0010g0154
a0002c0002t0022g0066
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0007c0009t0007g0096
 60 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(57): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00741.hp1
HG01074.hp2
HG01081.hp1
HG01168.hp2
HG01169.hp1
HG01255.hp1
HG01261.hp1
HG01358.hp2
HG01934.hp2
HG01952.hp2
HG01981.hp1
HG02027.hp1
HG02056.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02300.hp1
HG02559.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03490.hp2
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03942.hp1
HG06807.hp1
NA18747.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18995.hp2
NA19005.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19240.hp1
 intron_variant MODIFIER c.356-28250_356-2824
others(8): Show 
c.356-28250_356-28247delATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693534
chr7:105693534 CCCATCCA
others(1): Show 
CCCATCCAT
 C
C
 17 a0001c0001t0001g0059
a0001c0001t0002g0239
a0001c0001t0004g0084
others(14): Show 
a0001c0001t0001g0059
a0001c0001t0002g0239
a0001c0001t0004g0084
a0001c0001t0004g0198
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0017g0195
a0001c0001t0019g0063
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0033g0040
a0003c0003t0020g0199
 17 HG00642.hp2
HG00735.hp1
HG01069.hp2
others(14): Show 
HG00642.hp2
HG00735.hp1
HG01069.hp2
HG01081.hp2
HG01175.hp1
HG01243.hp2
HG01256.hp1
HG01261.hp2
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG02148.hp2
HG03209.hp1
HG03490.hp1
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.356-28254_356-2824
others(12): Show 
c.356-28254_356-28247delATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693534
chr7:105693569 ATCCATCC
others(8): Show 
ATCCATCCATCCATCT
 A
A
 2 a0001c0001t0007g0202
a0001c0001t0056g0210
a0001c0001t0007g0202
a0001c0001t0056g0210
 2 HG02895.hp1
HG03225.hp2
HG02895.hp1
HG03225.hp2
 intron_variant MODIFIER c.356-28296_356-2828
others(19): Show 
c.356-28296_356-28282delAGATGGATGGATGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693569
chr7:105693577 ATCCATCT
ATCCATCT
 A
A
 78 a0001c0001t0001g0026
a0001c0001t0001g0080
a0001c0001t0001g0081
others(75): Show 
a0001c0001t0001g0026
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0003g0011
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0235
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0223
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0045g0190
a0001c0001t0063g0041
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0004c0013t0036g0107
a0006c0010t0031g0204
 78 HG00280.hp1
HG00558.hp1
HG00673.hp1
others(75): Show 
HG00280.hp1
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp2
HG01074.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp2
HG03688.hp1
HG03942.hp2
HG04199.hp2
NA18522.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19060.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-28296_356-2829
others(11): Show 
c.356-28296_356-28290delAGATGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693577
chr7:105693580 C
C
 T
T
 1 a0001c0001t0024g0250
a0001c0001t0024g0250
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.356-28292G>A
c.356-28292G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693580
chr7:105693581 ATCT
ATCT
 A
A
 66 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(63): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0016
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0028g0037
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0003c0003t0005g0079
a0005c0011t0008g0092
 66 HG00323.hp1
HG00735.hp2
HG01069.hp1
others(63): Show 
HG00323.hp1
HG00735.hp2
HG01069.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01346.hp1
HG01433.hp2
HG01884.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp2
HG01981.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG03239.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18954.hp1
NA18962.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19087.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-28296_356-2829
others(7): Show 
c.356-28296_356-28294delAGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693581
chr7:105693582 T
T
 TC
TC
 8 a0001c0001t0001g0074
a0001c0001t0004g0039
a0001c0001t0004g0124
others(5): Show 
a0001c0001t0001g0074
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0018g0131
a0001c0001t0023g0247
a0001c0001t0048g0132
 8 HG02135.hp1
HG02523.hp2
HG03239.hp1
others(5): Show 
HG02135.hp1
HG02523.hp2
HG03239.hp1
NA18747.hp1
NA18950.hp1
NA18957.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.356-28295dupG
c.356-28295dupG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693582
chr7:105693584 T
T
 A
A
 9 a0001c0001t0001g0074
a0001c0001t0003g0238
a0001c0001t0004g0039
others(6): Show 
a0001c0001t0001g0074
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0018g0131
a0001c0001t0023g0247
a0001c0001t0048g0132
 9 HG02135.hp1
HG02523.hp2
HG03239.hp1
others(6): Show 
HG02135.hp1
HG02523.hp2
HG03239.hp1
HG03491.hp1
NA18747.hp1
NA18950.hp1
NA18957.hp2
NA19086.hp1
NA19091.hp2
 intron_variant MODIFIER c.356-28296A>T
c.356-28296A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693584
chr7:105693733 A
A
 T
T
 155 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(152): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
 155 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(152): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-28445T>A
c.356-28445T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693733
chr7:105693763 G
G
 T
T
 2 a0001c0001t0013g0156
a0001c0001t0028g0114
a0001c0001t0013g0156
a0001c0001t0028g0114
 2 HG02895.hp2
NA19043.hp1
HG02895.hp2
NA19043.hp1
 intron_variant MODIFIER c.356-28475C>A
c.356-28475C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693763
chr7:105693941 A
A
 AGGAGCAG
others(15): Show 
AGGAGCAGGGGAGGAAGAAGTCG
 3 a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0009g0055
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0009g0055
 3 NA19066.hp2
NA19079.hp2
NA19086.hp2
NA19066.hp2
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.356-28675_356-2865
others(26): Show 
c.356-28675_356-28654dupCGACTTCTTCCTCCCCTGCTCC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693941
chr7:105693996 G
G
 T
T
 59 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0059
others(56): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0059
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0135
a0001c0001t0007g0202
a0001c0001t0008g0073
a0001c0001t0008g0175
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0030g0212
a0003c0003t0020g0199
a0005c0011t0008g0092
 59 HG00642.hp2
HG00673.hp2
HG00735.hp2
others(56): Show 
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG01069.hp2
HG01081.hp2
HG01099.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02572.hp1
HG02735.hp1
HG02818.hp1
HG02895.hp1
HG03130.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG04199.hp1
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19054.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19086.hp1
NA19087.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-28708C>A
c.356-28708C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105693996
chr7:105694050 C
C
 CTT
CTT
 39 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0239
others(36): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0002g0239
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0219
a0001c0001t0005g0182
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0011g0143
a0001c0001t0012g0028
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0017g0195
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0002c0002t0022g0220
a0003c0003t0020g0199
 39 HG00323.hp1
HG00642.hp2
HG00741.hp2
others(36): Show 
HG00323.hp1
HG00642.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG02055.hp1
HG02135.hp1
HG02148.hp2
HG02280.hp1
HG02523.hp2
HG02572.hp2
HG02723.hp1
HG02723.hp2
HG03209.hp1
HG03239.hp1
HG03490.hp1
HG03491.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-28764_356-2876
others(6): Show 
c.356-28764_356-28763dupAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105694050
chr7:105694050 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-28775_356-2876
others(17): Show 
c.356-28775_356-28763dupAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105694050
chr7:105694140 C
C
 T
T
 1 a0001c0001t0028g0037
a0001c0001t0028g0037
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.356-28852G>A
c.356-28852G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105694140
chr7:105694166 G
G
 A
A
 3 a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0031g0172
 3 HG01257.hp2
HG01258.hp1
HG02572.hp2
HG01257.hp2
HG01258.hp1
HG02572.hp2
 intron_variant MODIFIER c.356-28878C>T
c.356-28878C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105694166
chr7:105694220 A
A
 G
G
 171 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(168): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
 171 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(168): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-28932T>C
c.356-28932T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105694220
chr7:105694486 G
G
 A
A
 31 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0181
others(28): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0004g0135
a0001c0001t0005g0126
a0001c0001t0006g0034
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0152
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0018g0058
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0024g0077
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0046g0138
 31 HG00558.hp2
HG00673.hp1
HG01109.hp2
others(28): Show 
HG00558.hp2
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02015.hp2
HG02071.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02818.hp1
HG03942.hp2
NA18989.hp2
NA18994.hp2
NA19005.hp1
NA19060.hp2
NA19085.hp1
NA19088.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-29198C>T
c.356-29198C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105694486
chr7:105694696 T
T
 C
C
 2 a0001c0001t0001g0059
a0001c0001t0015g0060
a0001c0001t0001g0059
a0001c0001t0015g0060
 2 HG00642.hp2
HG01175.hp1
HG00642.hp2
HG01175.hp1
 intron_variant MODIFIER c.356-29408A>G
c.356-29408A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105694696
chr7:105694841 G
G
 A
A
 20 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(17): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
 20 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(17): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG02055.hp1
HG02135.hp1
HG02280.hp1
HG02572.hp2
HG03239.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-29553C>T
c.356-29553C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105694841
chr7:105694913 A
A
 G
G
 158 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(155): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
 158 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(155): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-29625T>C
c.356-29625T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105694913
chr7:105695004 A
A
 T
T
 129 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(126): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
 129 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(126): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02895.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-29716T>A
c.356-29716T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105695004
chr7:105695011 C
C
 T
T
 11 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(8): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0004g0124
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0131
a0001c0001t0023g0247
a0001c0001t0058g0018
a0001c0001t0062g0007
 11 HG02135.hp1
HG03239.hp1
HG03831.hp1
others(8): Show 
HG02135.hp1
HG03239.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-29723G>A
c.356-29723G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105695011
chr7:105695251 C
C
 A
A
 28 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0181
others(25): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0005g0126
a0001c0001t0006g0034
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
a0001c0001t0028g0114
a0001c0001t0034g0068
a0001c0001t0046g0138
a0002c0002t0022g0220
 28 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(25): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02015.hp2
HG02129.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02723.hp2
HG02818.hp1
HG03942.hp2
NA18994.hp2
NA19043.hp1
NA19060.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.356-29963G>T
c.356-29963G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105695251
chr7:105695377 T
T
 C
C
 1 a0001c0001t0024g0077
a0001c0001t0024g0077
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.356-30089A>G
c.356-30089A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105695377
chr7:105695381 GA
GA
 G
G
 20 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(17): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
 20 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(17): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG02055.hp1
HG02135.hp1
HG02280.hp1
HG02572.hp2
HG03239.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-30094delT
c.356-30094delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105695381
chr7:105695684 C
C
 A
A
 3 a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0047g0121
a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0047g0121
 3 HG00741.hp1
HG01261.hp1
HG01358.hp2
HG00741.hp1
HG01261.hp1
HG01358.hp2
 intron_variant MODIFIER c.356-30396G>T
c.356-30396G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105695684
chr7:105695805 C
C
 T
T
 4 a0001c0001t0001g0181
a0001c0001t0004g0135
a0001c0001t0034g0068
others(1): Show 
a0001c0001t0001g0181
a0001c0001t0004g0135
a0001c0001t0034g0068
a0001c0001t0046g0138
 4 HG02572.hp1
HG02818.hp1
NA20129.hp1
others(1): Show 
HG02572.hp1
HG02818.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-30517G>A
c.356-30517G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105695805
chr7:105695826 A
A
 G
G
 1 a0001c0001t0060g0192
a0001c0001t0060g0192
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.356-30538T>C
c.356-30538T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105695826
chr7:105696169 A
A
 T
T
 28 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0181
others(25): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0005g0126
a0001c0001t0006g0034
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
a0001c0001t0028g0114
a0001c0001t0034g0068
a0001c0001t0046g0138
a0002c0002t0022g0220
 28 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(25): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02015.hp2
HG02129.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02723.hp2
HG02818.hp1
HG03942.hp2
NA18994.hp2
NA19043.hp1
NA19060.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.356-30881T>A
c.356-30881T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105696169
chr7:105696240 C
C
 T
T
 1 a0001c0001t0050g0155
a0001c0001t0050g0155
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.356-30952G>A
c.356-30952G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105696240
chr7:105696346 A
A
 G
G
 1 a0001c0001t0002g0016
a0001c0001t0002g0016
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.356-31058T>C
c.356-31058T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105696346
chr7:105696356 G
G
 C
C
 1 a0001c0001t0051g0035
a0001c0001t0051g0035
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.356-31068C>G
c.356-31068C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105696356
chr7:105696475 C
C
 T
T
 21 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(18): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
 21 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(18): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG02055.hp1
HG02135.hp1
HG02280.hp1
HG02572.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-31187G>A
c.356-31187G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105696475
chr7:105696542 T
T
 C
C
 115 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(112): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0039
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
 115 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(112): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18995.hp1
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-31254A>G
c.356-31254A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105696542
chr7:105696854 C
C
 T
T
 1 a0001c0001t0050g0155
a0001c0001t0050g0155
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.356-31566G>A
c.356-31566G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105696854
chr7:105697314 G
G
 A
A
 1 a0001c0001t0010g0093
a0001c0001t0010g0093
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.356-32026C>T
c.356-32026C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105697314
chr7:105697733 C
C
 A
A
 5 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(2): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0037g0065
a0001c0001t0057g0229
 5 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(2): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG02280.hp1
 intron_variant MODIFIER c.356-32445G>T
c.356-32445G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105697733
chr7:105697794 A
A
 T
T
 1 a0001c0001t0001g0163
a0001c0001t0001g0163
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.356-32506T>A
c.356-32506T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105697794
chr7:105697812 G
G
 A
A
 1 a0001c0001t0008g0216
a0001c0001t0008g0216
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.356-32524C>T
c.356-32524C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105697812
chr7:105697926 T
T
 C
C
 235 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(232): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 235 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(232): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-32638A>G
c.356-32638A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105697926
chr7:105697966 G
G
 A
A
 4 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0144
others(1): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0144
a0001c0001t0028g0114
 4 HG02280.hp2
HG02451.hp2
NA19043.hp1
others(1): Show 
HG02280.hp2
HG02451.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-32678C>T
c.356-32678C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105697966
chr7:105698030 A
A
 G
G
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-32742T>C
c.356-32742T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105698030
chr7:105698404 A
A
 T
T
 2 a0001c0001t0007g0202
a0001c0001t0056g0210
a0001c0001t0007g0202
a0001c0001t0056g0210
 2 HG02895.hp1
HG03225.hp2
HG02895.hp1
HG03225.hp2
 intron_variant MODIFIER c.356-33116T>A
c.356-33116T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105698404
chr7:105698527 G
G
 C
C
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-33239C>G
c.356-33239C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105698527
chr7:105698690 A
A
 G
G
 78 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
others(75): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0181
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0008t0014g0165
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
 78 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(75): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp1
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp2
HG02647.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03688.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp2
NA18994.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-33402T>C
c.356-33402T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105698690
chr7:105698796 C
C
 G
G
 17 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(14): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0034
a0001c0001t0006g0197
a0001c0001t0011g0099
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 17 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(14): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02015.hp2
HG02129.hp1
HG02300.hp2
HG02559.hp2
NA18994.hp2
NA19060.hp2
 intron_variant MODIFIER c.356-33508G>C
c.356-33508G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105698796
chr7:105698862 T
T
 G
G
 1 a0001c0001t0003g0071
a0001c0001t0003g0071
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.356-33574A>C
c.356-33574A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105698862
chr7:105698920 GAT
GAT
 G
G
 172 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
others(169): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0006c0010t0031g0204
a0007c0009t0007g0096
 172 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(169): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-33634_356-3363
others(6): Show 
c.356-33634_356-33633delAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105698920
chr7:105699078 A
A
 G
G
 2 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0003g0150
a0001c0001t0005g0182
 2 HG00323.hp1
HG01069.hp1
HG00323.hp1
HG01069.hp1
 intron_variant MODIFIER c.356-33790T>C
c.356-33790T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105699078
chr7:105699091 A
A
 C
C
 2 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0080
a0001c0001t0001g0081
 2 HG01516.hp2
HG01517.hp1
HG01516.hp2
HG01517.hp1
 intron_variant MODIFIER c.356-33803T>G
c.356-33803T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105699091
chr7:105699217 C
C
 G
G
 76 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
others(73): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0181
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0008t0014g0165
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
 76 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(73): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp1
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02622.hp2
HG02647.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03688.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-33929G>C
c.356-33929G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105699217
chr7:105699332 G
G
 A
A
 94 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
others(91): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0235
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0008t0014g0165
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
 94 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(91): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp1
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02165.hp2
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp2
HG02647.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03688.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp2
NA18994.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-34044C>T
c.356-34044C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105699332
chr7:105699462 A
A
 G
G
 17 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(14): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0034
a0001c0001t0006g0197
a0001c0001t0011g0099
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 17 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(14): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02015.hp2
HG02129.hp1
HG02300.hp2
HG02559.hp2
NA18994.hp2
NA19060.hp2
 intron_variant MODIFIER c.356-34174T>C
c.356-34174T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105699462
chr7:105699522 T
T
 C
C
 1 a0001c0001t0004g0039
a0001c0001t0004g0039
 1 NA19086.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-34234A>G
c.356-34234A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105699522
chr7:105699600 T
T
 C
C
 17 a0001c0001t0001g0085
a0001c0001t0001g0163
a0001c0001t0002g0053
others(14): Show 
a0001c0001t0001g0085
a0001c0001t0001g0163
a0001c0001t0002g0053
a0001c0001t0003g0171
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0009g0020
a0001c0001t0011g0101
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0019g0178
a0001c0001t0023g0183
a0001c0001t0050g0155
a0001c0007t0038g0158
a0002c0002t0032g0226
 17 HG01074.hp2
HG01934.hp1
HG01943.hp2
others(14): Show 
HG01074.hp2
HG01934.hp1
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02027.hp1
HG02129.hp2
HG02155.hp1
HG02300.hp1
HG02602.hp2
HG02738.hp1
HG03942.hp1
NA18945.hp2
NA18950.hp2
NA19003.hp2
NA19005.hp2
NA19085.hp2
 intron_variant MODIFIER c.356-34312A>G
c.356-34312A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105699600
chr7:105699904 T
T
 A
A
 2 a0001c0001t0001g0003
a0001c0001t0009g0013
a0001c0001t0001g0003
a0001c0001t0009g0013
 2 HG02735.hp2
HG03239.hp2
HG02735.hp2
HG03239.hp2
 intron_variant MODIFIER c.356-34616A>T
c.356-34616A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105699904
chr7:105700050 C
C
 T
T
 17 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(14): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0034
a0001c0001t0006g0197
a0001c0001t0011g0099
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 17 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(14): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02015.hp2
HG02129.hp1
HG02300.hp2
HG02559.hp2
NA18994.hp2
NA19060.hp2
 intron_variant MODIFIER c.356-34762G>A
c.356-34762G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700050
chr7:105700319 G
G
 A
A
 1 a0001c0001t0011g0152
a0001c0001t0011g0152
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.356-35031C>T
c.356-35031C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700319
chr7:105700333 C
C
 A
A
 77 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
others(74): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0181
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0008t0014g0165
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
 77 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(74): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp1
HG02165.hp2
HG02451.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp2
HG02647.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03688.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-35045G>T
c.356-35045G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700333
chr7:105700334 C
C
 T
T
 77 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
others(74): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0181
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0008t0014g0165
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
 77 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(74): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp1
HG02165.hp2
HG02451.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp2
HG02647.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03688.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-35046G>A
c.356-35046G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700334
chr7:105700335 A
A
 G
G
 77 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
others(74): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0181
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0008t0014g0165
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
 77 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(74): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp1
HG02165.hp2
HG02451.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp2
HG02647.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03688.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-35047T>C
c.356-35047T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700335
chr7:105700336 T
T
 A
A
 77 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
others(74): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0181
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0008t0014g0165
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
 77 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(74): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp1
HG02165.hp2
HG02451.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp2
HG02647.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03688.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-35048A>T
c.356-35048A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700336
chr7:105700378 G
G
 C
C
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.356-35090C>G
c.356-35090C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700378
chr7:105700455 T
T
 C
C
 1 a0001c0001t0004g0128
a0001c0001t0004g0128
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.356-35167A>G
c.356-35167A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700455
chr7:105700468 CCA
CCA
 C
C
 94 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
others(91): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0235
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0008t0014g0165
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
 94 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(91): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp1
HG00738.hp1
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp1
HG02165.hp2
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp2
HG02647.hp1
HG02735.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03688.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp2
NA18994.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-35182_356-3518
others(6): Show 
c.356-35182_356-35181delTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700468
chr7:105700508 C
C
 CA
CA
 9 a0001c0001t0001g0174
a0001c0001t0003g0004
a0001c0001t0010g0093
others(6): Show 
a0001c0001t0001g0174
a0001c0001t0003g0004
a0001c0001t0010g0093
a0001c0001t0023g0247
a0001c0001t0042g0161
a0001c0001t0048g0132
a0001c0001t0058g0018
a0001c0001t0063g0041
a0005c0011t0008g0092
 9 HG01978.hp2
HG02083.hp1
HG02135.hp1
others(6): Show 
HG01978.hp2
HG02083.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02523.hp2
HG03831.hp1
NA19009.hp1
NA19010.hp1
 intron_variant MODIFIER c.356-35221dupT
c.356-35221dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700508
chr7:105700508 CA
CA
 C
C
 154 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
others(151): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 154 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(151): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG03942.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-35221delT
c.356-35221delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700508
chr7:105700552 C
C
 G
G
 1 a0001c0001t0002g0188
a0001c0001t0002g0188
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.356-35264G>C
c.356-35264G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700552
chr7:105700621 T
T
 G
G
 1 a0001c0001t0002g0160
a0001c0001t0002g0160
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.356-35333A>C
c.356-35333A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700621
chr7:105700802 C
C
 T
T
 34 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(31): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0039
a0001c0001t0008g0175
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
 34 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(31): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01978.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02523.hp2
HG02735.hp1
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG04199.hp1
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19054.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19086.hp1
NA19087.hp2
 intron_variant MODIFIER c.356-35514G>A
c.356-35514G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700802
chr7:105700922 T
T
 A
A
 2 a0001c0001t0004g0219
a0006c0010t0031g0204
a0001c0001t0004g0219
a0006c0010t0031g0204
 2 HG02723.hp1
HG03579.hp2
HG02723.hp1
HG03579.hp2
 intron_variant MODIFIER c.356-35634A>T
c.356-35634A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105700922
chr7:105701161 A
A
 G
G
 210 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(207): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 210 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(207): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-35873T>C
c.356-35873T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105701161
chr7:105701324 C
C
 T
T
 1 a0001c0001t0011g0099
a0001c0001t0011g0099
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.356-36036G>A
c.356-36036G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105701324
chr7:105701374 C
C
 T
T
 1 a0001c0001t0002g0056
a0001c0001t0002g0056
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.356-36086G>A
c.356-36086G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105701374
chr7:105701375 A
A
 T
T
 1 a0001c0001t0006g0022
a0001c0001t0006g0022
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.356-36087T>A
c.356-36087T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105701375
chr7:105701466 T
T
 G
G
 231 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(228): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 231 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(228): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-36178A>C
c.356-36178A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105701466
chr7:105701622 C
C
 G
G
 1 a0001c0001t0002g0142
a0001c0001t0002g0142
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.356-36334G>C
c.356-36334G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105701622
chr7:105701759 C
C
 T
T
 1 a0001c0001t0027g0008
a0001c0001t0027g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.356-36471G>A
c.356-36471G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105701759
chr7:105701780 T
T
 C
C
 3 a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
 3 HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
 intron_variant MODIFIER c.356-36492A>G
c.356-36492A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105701780
chr7:105701815 C
C
 T
T
 1 a0001c0001t0015g0019
a0001c0001t0015g0019
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.356-36527G>A
c.356-36527G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105701815
chr7:105701858 C
C
 T
T
 6 a0001c0001t0001g0088
a0001c0001t0003g0147
a0001c0001t0009g0097
others(3): Show 
a0001c0001t0001g0088
a0001c0001t0003g0147
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0016g0176
a0005c0011t0008g0092
 6 HG01192.hp2
HG01346.hp1
HG02148.hp1
others(3): Show 
HG01192.hp2
HG01346.hp1
HG02148.hp1
NA18970.hp2
NA19068.hp2
NA19087.hp2
 intron_variant MODIFIER c.356-36570G>A
c.356-36570G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105701858
chr7:105702021 T
T
 C
C
 1 a0001c0001t0006g0022
a0001c0001t0006g0022
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.356-36733A>G
c.356-36733A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702021
chr7:105702063 T
T
 G
G
 1 a0001c0001t0007g0218
a0001c0001t0007g0218
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.356-36775A>C
c.356-36775A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702063
chr7:105702102 C
C
 T
T
 4 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0144
others(1): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0144
a0001c0001t0028g0114
 4 HG02280.hp2
HG02451.hp2
NA19043.hp1
others(1): Show 
HG02280.hp2
HG02451.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-36814G>A
c.356-36814G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702102
chr7:105702309 C
C
 T
T
 2 a0001c0001t0007g0202
a0001c0001t0056g0210
a0001c0001t0007g0202
a0001c0001t0056g0210
 2 HG02895.hp1
HG03225.hp2
HG02895.hp1
HG03225.hp2
 intron_variant MODIFIER c.356-37021G>A
c.356-37021G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702309
chr7:105702341 C
C
 T
T
 14 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(11): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 14 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(11): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
 intron_variant MODIFIER c.356-37053G>A
c.356-37053G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702341
chr7:105702431 G
G
 C
C
 2 a0001c0001t0007g0202
a0001c0001t0056g0210
a0001c0001t0007g0202
a0001c0001t0056g0210
 2 HG02895.hp1
HG03225.hp2
HG02895.hp1
HG03225.hp2
 intron_variant MODIFIER c.356-37143C>G
c.356-37143C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702431
chr7:105702545 AAC
AAC
 A
A
 119 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(116): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0006c0010t0031g0204
 119 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(116): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00673.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18962.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.356-37259_356-3725
others(6): Show 
c.356-37259_356-37258delGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702545
chr7:105702545 AACAC
AACAC
 A
A
 3 a0001c0001t0016g0069
a0002c0002t0030g0212
a0007c0009t0007g0096
a0001c0001t0016g0069
a0002c0002t0030g0212
a0007c0009t0007g0096
 3 HG02630.hp2
HG03130.hp1
HG03471.hp2
HG02630.hp2
HG03130.hp1
HG03471.hp2
 intron_variant MODIFIER c.356-37261_356-3725
others(8): Show 
c.356-37261_356-37258delGTGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702545
chr7:105702556 A
A
 G
G
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.356-37268T>C
c.356-37268T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702556
chr7:105702563 C
C
 G
G
 24 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(21): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0005c0011t0008g0092
 24 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(21): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02735.hp1
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-37275G>C
c.356-37275G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702563
chr7:105702565 G
G
 C
C
 24 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(21): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0005c0011t0008g0092
 24 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(21): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02735.hp1
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-37277C>G
c.356-37277C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702565
chr7:105702565 G
G
 GAC
GAC
 17 a0001c0001t0001g0181
a0001c0001t0001g0205
a0001c0001t0001g0222
others(14): Show 
a0001c0001t0001g0181
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0046g0138
a0002c0002t0022g0220
 17 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(14): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
NA19043.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-37279_356-3727
others(6): Show 
c.356-37279_356-37278dupGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702565
chr7:105702573 T
T
 C
C
 41 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(38): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0022g0220
a0005c0011t0008g0092
 41 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(38): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-37285A>G
c.356-37285A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702573
chr7:105702615 G
G
 C
C
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.356-37327C>G
c.356-37327C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702615
chr7:105702721 T
T
 C
C
 1 a0001c0001t0011g0012
a0001c0001t0011g0012
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.356-37433A>G
c.356-37433A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702721
chr7:105702825 C
C
 T
T
 3 a0001c0001t0016g0069
a0002c0002t0030g0212
a0007c0009t0007g0096
a0001c0001t0016g0069
a0002c0002t0030g0212
a0007c0009t0007g0096
 3 HG02630.hp2
HG03130.hp1
HG03471.hp2
HG02630.hp2
HG03130.hp1
HG03471.hp2
 intron_variant MODIFIER c.356-37537G>A
c.356-37537G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702825
chr7:105702917 G
G
 A
A
 45 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(42): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0049g0148
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
 45 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(42): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01099.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02735.hp2
HG03239.hp2
HG03831.hp2
HG04199.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18989.hp1
NA18994.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp1
NA19088.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-37629C>T
c.356-37629C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702917
chr7:105702968 T
T
 C
C
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.356-37680A>G
c.356-37680A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702968
chr7:105702976 C
C
 A
A
 3 a0001c0001t0016g0069
a0002c0002t0030g0212
a0007c0009t0007g0096
a0001c0001t0016g0069
a0002c0002t0030g0212
a0007c0009t0007g0096
 3 HG02630.hp2
HG03130.hp1
HG03471.hp2
HG02630.hp2
HG03130.hp1
HG03471.hp2
 intron_variant MODIFIER c.356-37688G>T
c.356-37688G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702976
chr7:105702999 C
C
 T
T
 1 a0001c0001t0008g0249
a0001c0001t0008g0249
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.356-37711G>A
c.356-37711G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105702999
chr7:105703004 C
C
 T
T
 2 a0001c0001t0007g0202
a0001c0001t0056g0210
a0001c0001t0007g0202
a0001c0001t0056g0210
 2 HG02895.hp1
HG03225.hp2
HG02895.hp1
HG03225.hp2
 intron_variant MODIFIER c.356-37716G>A
c.356-37716G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105703004
chr7:105703305 C
C
 CA
CA
 130 a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
others(127): Show 
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0217
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 130 HG00323.hp1
HG00642.hp1
HG00673.hp1
others(127): Show 
HG00323.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18970.hp2
NA18971.hp1
NA18989.hp2
NA18995.hp1
NA18995.hp2
NA19003.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.356-38018dupT
c.356-38018dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105703305
chr7:105703305 C
C
 CAA
CAA
 30 a0001c0001t0001g0005
a0001c0001t0001g0181
a0001c0001t0001g0205
others(27): Show 
a0001c0001t0001g0005
a0001c0001t0001g0181
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0075
a0001c0001t0011g0143
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0020g0169
a0001c0001t0023g0247
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0050g0155
a0001c0001t0058g0018
a0002c0002t0022g0220
a0002c0002t0059g0200
 30 HG01257.hp2
HG01258.hp1
HG02135.hp1
others(27): Show 
HG01257.hp2
HG01258.hp1
HG02135.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp1
HG03579.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19009.hp1
NA19010.hp2
NA19043.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-38019_356-3801
others(6): Show 
c.356-38019_356-38018dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105703305
chr7:105703330 T
T
 C
C
 20 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(17): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0005g0182
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0050g0155
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
 20 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(17): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG02055.hp1
HG02135.hp1
HG02602.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.356-38042A>G
c.356-38042A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105703330
chr7:105703444 G
G
 T
T
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.356-38156C>A
c.356-38156C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105703444
chr7:105703472 T
T
 C
C
 2 a0002c0002t0030g0208
a0002c0002t0033g0221
a0002c0002t0030g0208
a0002c0002t0033g0221
 2 HG02896.hp2
HG03540.hp2
HG02896.hp2
HG03540.hp2
 intron_variant MODIFIER c.356-38184A>G
c.356-38184A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105703472
chr7:105703699 C
C
 G
G
 3 a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0020g0120
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0020g0120
 3 HG01192.hp1
HG01515.hp2
HG01517.hp2
HG01192.hp1
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.356-38411G>C
c.356-38411G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105703699
chr7:105703733 T
T
 C
C
 1 a0001c0001t0002g0162
a0001c0001t0002g0162
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.356-38445A>G
c.356-38445A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105703733
chr7:105704031 T
T
 TCA
TCA
 85 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0033
others(82): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0143
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 85 HG00323.hp1
HG00673.hp1
HG00673.hp2
others(82): Show 
HG00323.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG02015.hp1
HG02055.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03239.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18962.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-38745_356-3874
others(6): Show 
c.356-38745_356-38744dupTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704031
chr7:105704064 G
G
 A
A
 1 a0001c0001t0015g0019
a0001c0001t0015g0019
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.356-38776C>T
c.356-38776C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704064
chr7:105704329 A
A
 T
T
 1 a0001c0001t0018g0046
a0001c0001t0018g0046
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.356-39041T>A
c.356-39041T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704329
chr7:105704348 TG
TG
 T
T
 6 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0003g0100
others(3): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0005g0025
a0001c0001t0011g0099
 6 HG02015.hp2
HG02132.hp1
HG02155.hp2
others(3): Show 
HG02015.hp2
HG02132.hp1
HG02155.hp2
NA18747.hp2
NA19067.hp1
NA19087.hp1
 intron_variant MODIFIER c.356-39061delC
c.356-39061delC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704348
chr7:105704505 T
T
 C
C
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0055g0252
a0001c0001t0057g0229
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG02055.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-39217A>G
c.356-39217A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704505
chr7:105704580 A
A
 ATC
ATC
 16 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0187
others(13): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0187
a0001c0001t0004g0203
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0012g0122
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0018g0046
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
a0002c0002t0030g0212
a0007c0009t0007g0096
 16 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(13): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01257.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02027.hp2
HG02300.hp2
HG02559.hp2
HG02622.hp1
HG02630.hp2
HG03130.hp1
HG03471.hp2
NA18994.hp2
 intron_variant MODIFIER c.356-39294_356-3929
others(6): Show 
c.356-39294_356-39293dupGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704580
chr7:105704584 C
C
 CT
CT
 17 a0001c0001t0001g0108
a0001c0001t0003g0086
a0001c0001t0004g0084
others(14): Show 
a0001c0001t0001g0108
a0001c0001t0003g0086
a0001c0001t0004g0084
a0001c0001t0004g0198
a0001c0001t0005g0025
a0001c0001t0006g0168
a0001c0001t0009g0055
a0001c0001t0011g0157
a0001c0001t0014g0083
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0040g0207
a0001c0001t0052g0133
a0003c0003t0020g0199
 17 HG00280.hp2
HG00642.hp1
HG00735.hp1
others(14): Show 
HG00280.hp2
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01069.hp2
HG01109.hp1
HG01261.hp1
HG01358.hp1
HG01978.hp1
HG02148.hp2
HG02630.hp1
HG03098.hp2
HG03209.hp1
HG03516.hp2
NA19003.hp2
NA19067.hp1
NA19086.hp2
 intron_variant MODIFIER c.356-39297dupA
c.356-39297dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704584
chr7:105704584 CT
CT
 C
C
 72 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0044
others(69): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0103
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0016g0139
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0008t0014g0165
 72 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(69): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01099.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01884.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp1
HG02723.hp1
HG02735.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03239.hp2
HG03491.hp1
HG03516.hp1
HG03831.hp1
HG04199.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19043.hp1
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-39297delA
c.356-39297delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704584
chr7:105704584 CTT
CTT
 C
C
 23 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(20): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0021
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0246
a0001c0001t0009g0097
a0001c0001t0010g0091
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0050g0155
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0005c0011t0008g0092
 23 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(20): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02148.hp1
HG02602.hp2
HG02735.hp1
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18954.hp1
NA18970.hp2
NA18971.hp1
NA19003.hp1
NA19054.hp2
NA19085.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-39298_356-3929
others(6): Show 
c.356-39298_356-39297delAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704584
chr7:105704584 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 6 a0001c0001t0006g0116
a0001c0001t0013g0156
a0001c0001t0021g0227
others(3): Show 
a0001c0001t0006g0116
a0001c0001t0013g0156
a0001c0001t0021g0227
a0001c0001t0045g0190
a0001c0001t0060g0192
a0006c0010t0031g0204
 6 HG01891.hp2
HG02145.hp1
HG02622.hp2
others(3): Show 
HG01891.hp2
HG02145.hp1
HG02622.hp2
HG02895.hp2
HG03579.hp2
NA19043.hp2
 intron_variant MODIFIER c.356-39306_356-3929
others(14): Show 
c.356-39306_356-39297delAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704584
chr7:105704585 T
T
 TCTC
TCTC
 4 a0001c0001t0002g0002
a0001c0001t0003g0235
a0001c0001t0013g0241
others(1): Show 
a0001c0001t0002g0002
a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
 4 HG01256.hp2
HG01258.hp2
HG01496.hp1
others(1): Show 
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG02129.hp1
 intron_variant MODIFIER c.356-39298_356-3929
others(7): Show 
c.356-39298_356-39297insGAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704585
chr7:105704586 T
T
 C
C
 15 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0187
others(12): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0187
a0001c0001t0004g0203
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0012g0122
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
a0002c0002t0030g0212
a0007c0009t0007g0096
 15 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(12): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01257.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02300.hp2
HG02559.hp2
HG02622.hp1
HG02630.hp2
HG03130.hp1
HG03471.hp2
NA18994.hp2
 intron_variant MODIFIER c.356-39298A>G
c.356-39298A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704586
chr7:105704587 T
T
 C
C
 11 a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0003g0235
others(8): Show 
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0003g0235
a0001c0001t0007g0202
a0001c0001t0009g0054
a0001c0001t0010g0032
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0064g0098
 11 HG01256.hp2
HG01258.hp2
HG01496.hp1
others(8): Show 
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02523.hp2
HG02895.hp1
HG03225.hp2
NA18995.hp1
NA19066.hp1
 intron_variant MODIFIER c.356-39299A>G
c.356-39299A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704587
chr7:105704588 T
T
 C
C
 34 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
others(31): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0203
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0009g0097
a0001c0001t0010g0091
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 34 HG00673.hp1
HG00673.hp2
HG00735.hp2
others(31): Show 
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02083.hp1
HG02148.hp1
HG02300.hp2
HG02559.hp2
HG02622.hp1
HG02630.hp2
HG02735.hp1
HG03130.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19054.hp2
NA19086.hp1
 intron_variant MODIFIER c.356-39300A>G
c.356-39300A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704588
chr7:105704589 T
T
 C
C
 2 a0001c0001t0007g0202
a0001c0001t0056g0210
a0001c0001t0007g0202
a0001c0001t0056g0210
 2 HG02895.hp1
HG03225.hp2
HG02895.hp1
HG03225.hp2
 intron_variant MODIFIER c.356-39301A>G
c.356-39301A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704589
chr7:105704856 C
C
 T
T
 4 a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0027g0134
others(1): Show 
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0027g0134
a0001c0001t0044g0110
 4 HG02965.hp1
HG03041.hp2
HG03130.hp2
others(1): Show 
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.356-39568G>A
c.356-39568G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704856
chr7:105704952 A
A
 G
G
 232 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(229): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 232 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(229): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-39664T>C
c.356-39664T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105704952
chr7:105705014 T
T
 TTTTA
TTTTA
 25 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(22): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0008g0015
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0091
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0016g0176
a0001c0001t0018g0131
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0005c0011t0008g0092
 25 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(22): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02735.hp1
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18962.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19054.hp2
NA19086.hp1
 intron_variant MODIFIER c.356-39730_356-3972
others(8): Show 
c.356-39730_356-39727dupTAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105705014
chr7:105705098 C
C
 T
T
 15 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(12): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 15 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(12): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
NA18994.hp2
 intron_variant MODIFIER c.356-39810G>A
c.356-39810G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105705098
chr7:105705330 A
A
 AT
AT
 66 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0033
others(63): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0182
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0143
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0023g0247
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0022g0220
a0005c0011t0008g0092
a0006c0010t0031g0204
 66 HG00323.hp1
HG00673.hp2
HG00735.hp2
others(63): Show 
HG00323.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01884.hp1
HG01891.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03239.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp1
NA18747.hp1
NA18943.hp1
NA18945.hp1
NA18962.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-40043dupA
c.356-40043dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105705330
chr7:105705470 G
G
 A
A
 1 a0001c0001t0007g0223
a0001c0001t0007g0223
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.356-40182C>T
c.356-40182C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105705470
chr7:105705501 A
A
 G
G
 20 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(17): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
a0001c0001t0056g0210
a0002c0002t0030g0212
a0007c0009t0007g0096
 20 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(17): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp2
NA18994.hp2
 intron_variant MODIFIER c.356-40213T>C
c.356-40213T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105705501
chr7:105705619 C
C
 G
G
 1 a0001c0001t0006g0168
a0001c0001t0006g0168
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.356-40331G>C
c.356-40331G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105705619
chr7:105705671 G
G
 A
A
 73 a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0085
others(70): Show 
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 73 HG00323.hp2
HG00642.hp1
HG00738.hp2
others(70): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03688.hp1
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18989.hp2
NA18995.hp2
NA19003.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-40383C>T
c.356-40383C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105705671
chr7:105705684 G
G
 C
C
 1 a0001c0001t0012g0244
a0001c0001t0012g0244
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.356-40396C>G
c.356-40396C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105705684
chr7:105705732 C
C
 T
T
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.356-40444G>A
c.356-40444G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105705732
chr7:105705738 G
G
 A
A
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.356-40450C>T
c.356-40450C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105705738
chr7:105705792 C
C
 T
T
 136 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
others(133): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0182
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0075
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
 136 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(133): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18962.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.356-40504G>A
c.356-40504G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105705792
chr7:105705801 G
G
 A
A
 1 a0002c0002t0032g0149
a0002c0002t0032g0149
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.356-40513C>T
c.356-40513C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105705801
chr7:105705948 G
G
 C
C
 2 a0001c0001t0007g0202
a0001c0001t0056g0210
a0001c0001t0007g0202
a0001c0001t0056g0210
 2 HG02895.hp1
HG03225.hp2
HG02895.hp1
HG03225.hp2
 intron_variant MODIFIER c.356-40660C>G
c.356-40660C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105705948
chr7:105706093 C
C
 G
G
 2 a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0125
a0001c0001t0015g0140
 2 HG01515.hp2
HG01517.hp2
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.356-40805G>C
c.356-40805G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105706093
chr7:105706145 A
A
 G
G
 34 a0001c0001t0001g0005
a0001c0001t0001g0082
a0001c0001t0001g0119
others(31): Show 
a0001c0001t0001g0005
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0197
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0050g0155
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
 34 HG00323.hp1
HG00673.hp1
HG00741.hp2
others(31): Show 
HG00323.hp1
HG00673.hp1
HG00741.hp2
HG01069.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG02015.hp1
HG02129.hp1
HG02135.hp1
HG02300.hp2
HG02559.hp2
HG02602.hp2
HG03239.hp1
HG03491.hp1
HG03831.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.356-40857T>C
c.356-40857T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105706145
chr7:105706283 TC
TC
 T
T
 74 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(71): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0003c0003t0005g0079
a0004c0013t0036g0107
 74 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(71): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00738.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02280.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03831.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-40996delG
c.356-40996delG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105706283
chr7:105706471 C
C
 T
T
 1 a0001c0001t0001g0088
a0001c0001t0001g0088
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.356-41183G>A
c.356-41183G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105706471
chr7:105706640 G
G
 A
A
 1 a0001c0001t0009g0054
a0001c0001t0009g0054
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.356-41352C>T
c.356-41352C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105706640
chr7:105706643 A
A
 G
G
 15 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(12): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 15 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(12): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
NA18994.hp2
 intron_variant MODIFIER c.356-41355T>C
c.356-41355T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105706643
chr7:105706731 C
C
 T
T
 1 a0001c0001t0013g0129
a0001c0001t0013g0129
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.356-41443G>A
c.356-41443G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105706731
chr7:105706770 C
C
 T
T
 1 a0001c0001t0004g0135
a0001c0001t0004g0135
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.356-41482G>A
c.356-41482G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105706770
chr7:105706904 T
T
 A
A
 1 a0001c0001t0001g0102
a0001c0001t0001g0102
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.356-41616A>T
c.356-41616A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105706904
chr7:105707041 C
C
 T
T
 15 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(12): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 15 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(12): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
NA18994.hp2
 intron_variant MODIFIER c.356-41753G>A
c.356-41753G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105707041
chr7:105707277 G
G
 A
A
 1 a0001c0001t0061g0036
a0001c0001t0061g0036
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.356-41989C>T
c.356-41989C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105707277
chr7:105707364 A
A
 C
C
 5 a0001c0001t0001g0108
a0001c0001t0010g0111
a0001c0001t0016g0136
others(2): Show 
a0001c0001t0001g0108
a0001c0001t0010g0111
a0001c0001t0016g0136
a0001c0001t0040g0207
a0001c0001t0047g0121
 5 HG00738.hp2
HG01261.hp1
HG01358.hp2
others(2): Show 
HG00738.hp2
HG01261.hp1
HG01358.hp2
HG03098.hp2
NA18906.hp2
 intron_variant MODIFIER c.356-42076T>G
c.356-42076T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105707364
chr7:105707488 G
G
 A
A
 5 a0001c0001t0006g0116
a0001c0001t0013g0156
a0001c0001t0021g0227
others(2): Show 
a0001c0001t0006g0116
a0001c0001t0013g0156
a0001c0001t0021g0227
a0001c0001t0056g0210
a0001c0001t0060g0192
 5 HG02145.hp1
HG02622.hp2
HG02895.hp2
others(2): Show 
HG02145.hp1
HG02622.hp2
HG02895.hp2
HG03225.hp2
NA19043.hp2
 intron_variant MODIFIER c.356-42200C>T
c.356-42200C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105707488
chr7:105707646 A
A
 G
G
 1 a0001c0001t0005g0027
a0001c0001t0005g0027
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.356-42358T>C
c.356-42358T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105707646
chr7:105707748 G
G
 C
C
 102 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(99): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0075
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0047g0121
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0006c0010t0031g0204
 102 HG00323.hp2
HG00642.hp1
HG00738.hp2
others(99): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18962.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.356-42460C>G
c.356-42460C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105707748
chr7:105708155 A
A
 G
G
 6 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(3): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0055g0252
a0001c0001t0057g0229
 6 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(3): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-42867T>C
c.356-42867T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105708155
chr7:105708284 A
A
 G
G
 60 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
others(57): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0044g0110
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 60 HG00673.hp1
HG00673.hp2
HG00735.hp2
others(57): Show 
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-42996T>C
c.356-42996T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105708284
chr7:105708374 C
C
 T
T
 1 a0003c0003t0020g0199
a0003c0003t0020g0199
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.356-43086G>A
c.356-43086G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105708374
chr7:105708405 G
G
 C
C
 47 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
others(44): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 47 HG00673.hp1
HG00673.hp2
HG00735.hp2
others(44): Show 
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-43117C>G
c.356-43117C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105708405
chr7:105708406 A
A
 T
T
 82 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(79): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 82 HG00642.hp1
HG00738.hp2
HG00741.hp1
others(79): Show 
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp2
HG02647.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18962.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-43118T>A
c.356-43118T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105708406
chr7:105708448 G
G
 A
A
 14 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(11): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 14 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(11): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
 intron_variant MODIFIER c.356-43160C>T
c.356-43160C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105708448
chr7:105708695 CT
CT
 C
C
 56 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
others(53): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 56 HG00323.hp1
HG00673.hp1
HG00673.hp2
others(53): Show 
HG00323.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG02015.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-43408delA
c.356-43408delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105708695
chr7:105708698 A
A
 C
C
 1 a0001c0001t0012g0064
a0001c0001t0012g0064
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.356-43410T>G
c.356-43410T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105708698
chr7:105708810 A
A
 G
G
 1 a0001c0001t0011g0170
a0001c0001t0011g0170
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.356-43522T>C
c.356-43522T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105708810
chr7:105708858 C
C
 T
T
 1 a0001c0001t0001g0119
a0001c0001t0001g0119
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.356-43570G>A
c.356-43570G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105708858
chr7:105709011 A
A
 G
G
 6 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(3): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0055g0252
a0001c0001t0057g0229
 6 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(3): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-43723T>C
c.356-43723T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709011
chr7:105709097 G
G
 GC
GC
 156 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
others(153): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0075
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 156 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(153): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18962.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.356-43810dupG
c.356-43810dupG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709097
chr7:105709207 G
G
 A
A
 3 a0001c0001t0001g0033
a0001c0001t0004g0039
a0001c0001t0010g0032
a0001c0001t0001g0033
a0001c0001t0004g0039
a0001c0001t0010g0032
 3 NA18971.hp1
NA19066.hp1
NA19086.hp1
NA18971.hp1
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-43919C>T
c.356-43919C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709207
chr7:105709247 T
T
 C
C
 28 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(25): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0005c0011t0008g0092
 28 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(25): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02622.hp2
HG02735.hp1
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-43959A>G
c.356-43959A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709247
chr7:105709266 G
G
 A
A
 2 a0001c0001t0008g0015
a0001c0001t0018g0131
a0001c0001t0008g0015
a0001c0001t0018g0131
 2 NA18747.hp1
NA18962.hp2
NA18747.hp1
NA18962.hp2
 intron_variant MODIFIER c.356-43978C>T
c.356-43978C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709266
chr7:105709344 AG
AG
 A
A
 34 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(31): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0007c0009t0007g0096
 34 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(31): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02165.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-44057delC
c.356-44057delC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709344
chr7:105709345 G
G
 A
A
 1 a0005c0011t0008g0092
a0005c0011t0008g0092
 1 HG02148.hp1
HG02148.hp1
 intron_variant MODIFIER c.356-44057C>T
c.356-44057C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709345
chr7:105709348 T
T
 A
A
 35 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(32): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 35 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(32): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-44060A>T
c.356-44060A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709348
chr7:105709349 T
T
 A
A
 33 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(30): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 33 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(30): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG03130.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-44061A>T
c.356-44061A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709349
chr7:105709350 T
T
 A
A
 32 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(29): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 32 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(29): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG03130.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-44062A>T
c.356-44062A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709350
chr7:105709380 G
G
 A
A
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.356-44092C>T
c.356-44092C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709380
chr7:105709489 C
C
 T
T
 1 a0001c0001t0015g0019
a0001c0001t0015g0019
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.356-44201G>A
c.356-44201G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709489
chr7:105709584 C
C
 G
G
 53 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
others(50): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0217
a0001c0001t0009g0055
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0021g0184
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0032g0149
a0002c0002t0059g0200
 53 HG00323.hp2
HG00642.hp1
HG00738.hp2
others(50): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG01074.hp1
HG01081.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG02015.hp2
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp2
HG02451.hp1
HG02559.hp1
HG02630.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18954.hp2
NA18995.hp2
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-44296G>C
c.356-44296G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709584
chr7:105709692 G
G
 A
A
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.356-44404C>T
c.356-44404C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709692
chr7:105709780 C
C
 T
T
 14 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(11): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 14 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(11): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
 intron_variant MODIFIER c.356-44492G>A
c.356-44492G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709780
chr7:105709836 T
T
 C
C
 48 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(45): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0021g0227
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0044g0110
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 48 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(45): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-44548A>G
c.356-44548A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709836
chr7:105709853 C
C
 G
G
 1 a0001c0001t0005g0027
a0001c0001t0005g0027
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.356-44565G>C
c.356-44565G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709853
chr7:105709877 C
C
 CT
CT
 6 a0001c0001t0004g0219
a0001c0001t0013g0156
a0001c0001t0016g0069
others(3): Show 
a0001c0001t0004g0219
a0001c0001t0013g0156
a0001c0001t0016g0069
a0001c0001t0045g0190
a0002c0002t0030g0212
a0007c0009t0007g0096
 6 HG01891.hp2
HG02630.hp2
HG02723.hp1
others(3): Show 
HG01891.hp2
HG02630.hp2
HG02723.hp1
HG02895.hp2
HG03130.hp1
HG03471.hp2
 intron_variant MODIFIER c.356-44590dupA
c.356-44590dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709877
chr7:105709877 C
C
 CTT
CTT
 42 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(39): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0039
a0001c0001t0005g0182
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0016g0176
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0044g0110
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0005c0011t0008g0092
 42 HG00323.hp1
HG00673.hp2
HG00735.hp2
others(39): Show 
HG00323.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01346.hp1
HG01884.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp2
HG02622.hp2
HG02735.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-44591_356-4459
others(6): Show 
c.356-44591_356-44590dupAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709877
chr7:105709877 C
C
 CTTT
CTTT
 5 a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0018g0058
others(2): Show 
a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0031g0172
 5 HG01257.hp2
HG01258.hp1
HG02572.hp2
others(2): Show 
HG01257.hp2
HG01258.hp1
HG02572.hp2
HG02622.hp1
HG02895.hp1
 intron_variant MODIFIER c.356-44592_356-4459
others(7): Show 
c.356-44592_356-44590dupAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709877
chr7:105709877 C
C
 CTTTTTTT
others(65): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTTTTT
 1 a0002c0002t0059g0200
a0002c0002t0059g0200
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.356-44590_356-4458
others(76): Show 
c.356-44590_356-44589insAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709877
chr7:105709889 T
T
 G
G
 85 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(82): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0047g0121
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
 85 HG00323.hp2
HG00642.hp1
HG00738.hp2
others(82): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18954.hp2
NA18962.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-44601A>C
c.356-44601A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709889
chr7:105709893 T
T
 G
G
 1 a0002c0002t0059g0200
a0002c0002t0059g0200
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.356-44605A>C
c.356-44605A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709893
chr7:105709896 A
A
 G
G
 1 a0002c0002t0059g0200
a0002c0002t0059g0200
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.356-44608T>C
c.356-44608T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709896
chr7:105709899 G
G
 A
A
 35 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(32): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 35 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(32): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-44611C>T
c.356-44611C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709899
chr7:105709904 A
A
 G
G
 1 a0002c0002t0059g0200
a0002c0002t0059g0200
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.356-44616T>C
c.356-44616T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709904
chr7:105709905 T
T
 C
C
 1 a0002c0002t0059g0200
a0002c0002t0059g0200
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.356-44617A>G
c.356-44617A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709905
chr7:105709911 T
T
 C
C
 1 a0002c0002t0059g0200
a0002c0002t0059g0200
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.356-44623A>G
c.356-44623A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709911
chr7:105709914 A
A
 C
C
 1 a0002c0002t0059g0200
a0002c0002t0059g0200
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.356-44626T>G
c.356-44626T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709914
chr7:105709918 A
A
 G
G
 1 a0002c0002t0059g0200
a0002c0002t0059g0200
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.356-44630T>C
c.356-44630T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105709918
chr7:105710325 A
A
 G
G
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.356-45037T>C
c.356-45037T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105710325
chr7:105710354 T
T
 C
C
 2 a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0004g0203
a0001c0001t0007g0202
 2 HG02622.hp1
HG02895.hp1
HG02622.hp1
HG02895.hp1
 intron_variant MODIFIER c.356-45066A>G
c.356-45066A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105710354
chr7:105710401 C
C
 CT
CT
 5 a0001c0001t0003g0150
a0001c0001t0010g0051
a0001c0001t0012g0232
others(2): Show 
a0001c0001t0003g0150
a0001c0001t0010g0051
a0001c0001t0012g0232
a0001c0001t0015g0060
a0001c0001t0026g0234
 5 HG01069.hp1
HG01167.hp1
HG01175.hp1
others(2): Show 
HG01069.hp1
HG01167.hp1
HG01175.hp1
HG02148.hp2
HG03942.hp2
 intron_variant MODIFIER c.356-45114dupA
c.356-45114dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105710401
chr7:105710401 CT
CT
 C
C
 147 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(144): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
 147 HG00280.hp1
HG00323.hp1
HG00642.hp1
others(144): Show 
HG00280.hp1
HG00323.hp1
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-45114delA
c.356-45114delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105710401
chr7:105710401 CTTTT
CTTTT
 C
C
 12 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(9): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0024g0077
 12 HG00673.hp1
HG01168.hp1
HG01256.hp2
others(9): Show 
HG00673.hp1
HG01168.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
 intron_variant MODIFIER c.356-45117_356-4511
others(8): Show 
c.356-45117_356-45114delAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105710401
chr7:105710401 CTTTTTT
CTTTTTT
 C
C
 34 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(31): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 34 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(31): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-45119_356-4511
others(10): Show 
c.356-45119_356-45114delAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105710401
chr7:105710401 CTTTTTTT
CTTTTTTT
 C
C
 13 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0004g0203
others(10): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0004g0203
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0044g0110
 13 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(10): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02622.hp1
HG02895.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-45120_356-4511
others(11): Show 
c.356-45120_356-45114delAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105710401
chr7:105710457 C
C
 G
G
 69 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
others(66): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 69 HG00323.hp1
HG00673.hp1
HG00673.hp2
others(66): Show 
HG00323.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG02015.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-45169G>C
c.356-45169G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105710457
chr7:105710632 C
C
 T
T
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.356-45344G>A
c.356-45344G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105710632
chr7:105710633 G
G
 A
A
 3 a0001c0001t0016g0069
a0002c0002t0030g0212
a0007c0009t0007g0096
a0001c0001t0016g0069
a0002c0002t0030g0212
a0007c0009t0007g0096
 3 HG02630.hp2
HG03130.hp1
HG03471.hp2
HG02630.hp2
HG03130.hp1
HG03471.hp2
 intron_variant MODIFIER c.356-45345C>T
c.356-45345C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105710633
chr7:105710657 CA
CA
 C
C
 6 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(3): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0055g0252
a0001c0001t0057g0229
 6 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(3): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-45370delT
c.356-45370delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105710657
chr7:105710739 A
A
 G
G
 1 a0001c0001t0023g0183
a0001c0001t0023g0183
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.356-45451T>C
c.356-45451T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105710739
chr7:105710756 A
A
 G
G
 48 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(45): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0021g0227
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0044g0110
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 48 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(45): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-45468T>C
c.356-45468T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105710756
chr7:105710769 G
G
 C
C
 35 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(32): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 35 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(32): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-45481C>G
c.356-45481C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105710769
chr7:105711222 T
T
 A
A
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.356-45934A>T
c.356-45934A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105711222
chr7:105711259 CAT
CAT
 C
C
 35 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(32): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 35 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(32): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-45973_356-4597
others(6): Show 
c.356-45973_356-45972delAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105711259
chr7:105711441 A
A
 G
G
 1 a0001c0001t0060g0192
a0001c0001t0060g0192
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.356-46153T>C
c.356-46153T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105711441
chr7:105711499 G
G
 C
C
 2 a0001c0001t0003g0118
a0001c0001t0014g0123
a0001c0001t0003g0118
a0001c0001t0014g0123
 2 HG01167.hp2
HG01169.hp2
HG01167.hp2
HG01169.hp2
 intron_variant MODIFIER c.356-46211C>G
c.356-46211C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105711499
chr7:105711546 T
T
 C
C
 3 a0001c0001t0001g0033
a0001c0001t0004g0039
a0001c0001t0010g0032
a0001c0001t0001g0033
a0001c0001t0004g0039
a0001c0001t0010g0032
 3 NA18971.hp1
NA19066.hp1
NA19086.hp1
NA18971.hp1
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-46258A>G
c.356-46258A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105711546
chr7:105711634 C
C
 G
G
 69 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
others(66): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0044g0110
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 69 HG00323.hp1
HG00673.hp1
HG00673.hp2
others(66): Show 
HG00323.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG02015.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03579.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-46346G>C
c.356-46346G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105711634
chr7:105711746 C
C
 T
T
 1 a0001c0001t0008g0216
a0001c0001t0008g0216
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.356-46458G>A
c.356-46458G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105711746
chr7:105711747 G
G
 A
A
 35 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(32): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 35 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(32): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-46459C>T
c.356-46459C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105711747
chr7:105711763 T
T
 G
G
 48 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(45): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0021g0227
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0044g0110
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 48 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(45): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-46475A>C
c.356-46475A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105711763
chr7:105711767 C
C
 G
G
 48 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(45): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0021g0227
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0044g0110
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 48 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(45): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-46479G>C
c.356-46479G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105711767
chr7:105711832 G
G
 T
T
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.356-46544C>A
c.356-46544C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105711832
chr7:105711909 C
C
 T
T
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.356-46621G>A
c.356-46621G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105711909
chr7:105712150 A
A
 T
T
 35 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(32): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 35 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(32): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-46862T>A
c.356-46862T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105712150
chr7:105712162 G
G
 A
A
 35 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(32): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 35 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(32): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-46874C>T
c.356-46874C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105712162
chr7:105712207 C
C
 G
G
 1 a0001c0001t0001g0163
a0001c0001t0001g0163
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.356-46919G>C
c.356-46919G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105712207
chr7:105712208 A
A
 T
T
 2 a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0125
a0001c0001t0015g0140
 2 HG01515.hp2
HG01517.hp2
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.356-46920T>A
c.356-46920T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105712208
chr7:105712609 G
G
 A
A
 3 a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0033g0221
 3 HG01074.hp2
HG02896.hp2
HG03540.hp2
HG01074.hp2
HG02896.hp2
HG03540.hp2
 intron_variant MODIFIER c.356-47321C>T
c.356-47321C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105712609
chr7:105712800 C
C
 T
T
 1 a0001c0001t0003g0011
a0001c0001t0003g0011
 1 NA18943.hp1
NA18943.hp1
 intron_variant MODIFIER c.356-47512G>A
c.356-47512G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105712800
chr7:105712831 G
G
 T
T
 1 a0001c0001t0006g0022
a0001c0001t0006g0022
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.356-47543C>A
c.356-47543C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105712831
chr7:105712902 C
C
 T
T
 75 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(72): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0003c0003t0005g0079
a0004c0013t0036g0107
 75 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(72): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00738.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02280.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03831.hp1
HG03831.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp1
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19088.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-47614G>A
c.356-47614G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105712902
chr7:105712943 C
C
 G
G
 50 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
others(47): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 50 HG00673.hp1
HG00673.hp2
HG00735.hp2
others(47): Show 
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-47655G>C
c.356-47655G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105712943
chr7:105712968 A
A
 T
T
 1 a0001c0001t0002g0177
a0001c0001t0002g0177
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.356-47680T>A
c.356-47680T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105712968
chr7:105713167 C
C
 T
T
 2 a0001c0001t0013g0156
a0001c0001t0015g0019
a0001c0001t0013g0156
a0001c0001t0015g0019
 2 HG02895.hp2
HG03942.hp1
HG02895.hp2
HG03942.hp1
 intron_variant MODIFIER c.356-47879G>A
c.356-47879G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105713167
chr7:105713262 T
T
 C
C
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-47974A>G
c.356-47974A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105713262
chr7:105713456 G
G
 A
A
 14 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(11): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 14 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(11): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
 intron_variant MODIFIER c.356-48168C>T
c.356-48168C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105713456
chr7:105713480 G
G
 A
A
 35 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(32): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 35 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(32): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-48192C>T
c.356-48192C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105713480
chr7:105713605 A
A
 T
T
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-48317T>A
c.356-48317T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105713605
chr7:105713668 G
G
 A
A
 84 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(81): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0047g0121
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 84 HG00323.hp2
HG00642.hp1
HG00738.hp2
others(81): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18954.hp2
NA18962.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-48380C>T
c.356-48380C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105713668
chr7:105713692 C
C
 T
T
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.356-48404G>A
c.356-48404G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105713692
chr7:105713789 C
C
 T
T
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.356-48501G>A
c.356-48501G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105713789
chr7:105713792 G
G
 A
A
 1 a0003c0003t0005g0079
a0003c0003t0005g0079
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.356-48504C>T
c.356-48504C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105713792
chr7:105713801 TA
TA
 T
T
 56 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
others(53): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 56 HG00323.hp1
HG00673.hp1
HG00673.hp2
others(53): Show 
HG00323.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG02015.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-48514delT
c.356-48514delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105713801
chr7:105713872 G
G
 C
C
 1 a0001c0001t0010g0095
a0001c0001t0010g0095
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.356-48584C>G
c.356-48584C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105713872
chr7:105713904 C
C
 G
G
 13 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0004g0203
others(10): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0004g0203
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0044g0110
 13 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(10): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02622.hp1
HG02895.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-48616G>C
c.356-48616G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105713904
chr7:105713921 G
G
 T
T
 1 a0001c0006t0001g0112
a0001c0006t0001g0112
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.356-48633C>A
c.356-48633C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105713921
chr7:105713964 C
C
 T
T
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.356-48676G>A
c.356-48676G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105713964
chr7:105714019 T
T
 C
C
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-48731A>G
c.356-48731A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714019
chr7:105714130 A
A
 G
G
 5 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(2): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0062g0007
 5 NA18971.hp2
NA18994.hp1
NA19000.hp2
others(2): Show 
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
 intron_variant MODIFIER c.356-48842T>C
c.356-48842T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714130
chr7:105714153 C
C
 G
G
 1 a0001c0001t0003g0050
a0001c0001t0003g0050
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.356-48865G>C
c.356-48865G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714153
chr7:105714216 C
C
 T
T
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.356-48928G>A
c.356-48928G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714216
chr7:105714234 C
C
 T
T
 85 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(82): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0047g0121
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 85 HG00323.hp2
HG00642.hp1
HG00738.hp2
others(82): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18954.hp2
NA18962.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-48946G>A
c.356-48946G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714234
chr7:105714466 G
G
 C
C
 2 a0001c0001t0001g0108
a0001c0001t0047g0121
a0001c0001t0001g0108
a0001c0001t0047g0121
 2 HG01261.hp1
HG01358.hp2
HG01261.hp1
HG01358.hp2
 intron_variant MODIFIER c.356-49178C>G
c.356-49178C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714466
chr7:105714489 C
C
 A
A
 1 a0001c0001t0001g0102
a0001c0001t0001g0102
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.356-49201G>T
c.356-49201G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714489
chr7:105714664 TG
TG
 T
T
 16 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(13): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 16 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(13): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
 intron_variant MODIFIER c.356-49377delC
c.356-49377delC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714664
chr7:105714665 G
G
 GT
GT
 10 a0001c0001t0004g0211
a0001c0001t0006g0022
a0001c0001t0006g0024
others(7): Show 
a0001c0001t0004g0211
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0012g0064
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0022g0224
a0001c0001t0034g0068
a0001c0001t0058g0018
 10 HG02055.hp1
HG02572.hp1
HG02602.hp1
others(7): Show 
HG02055.hp1
HG02572.hp1
HG02602.hp1
HG02738.hp1
HG03209.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.356-49378dupA
c.356-49378dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714665
chr7:105714683 G
G
 A
A
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.356-49395C>T
c.356-49395C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714683
chr7:105714699 G
G
 C
C
 1 a0001c0001t0002g0177
a0001c0001t0002g0177
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.356-49411C>G
c.356-49411C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714699
chr7:105714701 C
C
 T
T
 15 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(12): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0020g0120
a0001c0001t0024g0077
 15 HG00673.hp1
HG01168.hp1
HG01168.hp2
others(12): Show 
HG00673.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
 intron_variant MODIFIER c.356-49413G>A
c.356-49413G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714701
chr7:105714753 C
C
 T
T
 11 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0202
others(8): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0044g0110
 11 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(8): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02895.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
NA19043.hp1
 intron_variant MODIFIER c.356-49465G>A
c.356-49465G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714753
chr7:105714816 G
G
 A
A
 3 a0001c0001t0014g0237
a0001c0001t0017g0213
a0001c0001t0041g0196
a0001c0001t0014g0237
a0001c0001t0017g0213
a0001c0001t0041g0196
 3 HG00323.hp2
HG02630.hp1
NA19030.hp2
HG00323.hp2
HG02630.hp1
NA19030.hp2
 intron_variant MODIFIER c.356-49528C>T
c.356-49528C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714816
chr7:105714829 C
C
 A
A
 59 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
others(56): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0008g0073
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 59 HG00323.hp1
HG00673.hp1
HG00673.hp2
others(56): Show 
HG00323.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG02015.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-49541G>T
c.356-49541G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714829
chr7:105714852 G
G
 A
A
 1 a0001c0001t0018g0046
a0001c0001t0018g0046
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.356-49564C>T
c.356-49564C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714852
chr7:105714853 G
G
 T
T
 6 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(3): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0055g0252
a0001c0001t0057g0229
 6 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(3): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-49565C>A
c.356-49565C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714853
chr7:105714856 G
G
 T
T
 3 a0001c0001t0026g0189
a0001c0001t0037g0065
a0003c0003t0005g0079
a0001c0001t0026g0189
a0001c0001t0037g0065
a0003c0003t0005g0079
 3 HG01109.hp1
HG02280.hp1
HG06807.hp2
HG01109.hp1
HG02280.hp1
HG06807.hp2
 intron_variant MODIFIER c.356-49568C>A
c.356-49568C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714856
chr7:105714890 C
C
 A
A
 2 a0001c0001t0001g0108
a0001c0001t0047g0121
a0001c0001t0001g0108
a0001c0001t0047g0121
 2 HG01261.hp1
HG01358.hp2
HG01261.hp1
HG01358.hp2
 intron_variant MODIFIER c.356-49602G>T
c.356-49602G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714890
chr7:105714908 G
G
 A
A
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.356-49620C>T
c.356-49620C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714908
chr7:105714922 C
C
 T
T
 17 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(14): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0197
a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 17 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(14): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
HG03831.hp2
 intron_variant MODIFIER c.356-49634G>A
c.356-49634G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105714922
chr7:105715063 A
A
 G
G
 2 a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0056g0210
a0001c0001t0060g0192
 2 HG02145.hp1
HG03225.hp2
HG02145.hp1
HG03225.hp2
 intron_variant MODIFIER c.356-49775T>C
c.356-49775T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105715063
chr7:105715322 C
C
 T
T
 233 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(230): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 233 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(230): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-50034G>A
c.356-50034G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105715322
chr7:105715326 G
G
 A
A
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.356-50038C>T
c.356-50038C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105715326
chr7:105715408 C
C
 T
T
 1 a0001c0001t0014g0237
a0001c0001t0014g0237
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.356-50120G>A
c.356-50120G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105715408
chr7:105715495 C
C
 T
T
 28 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(25): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0005c0011t0008g0092
 28 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(25): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02622.hp2
HG02735.hp1
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-50207G>A
c.356-50207G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105715495
chr7:105715612 T
T
 A
A
 10 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0202
others(7): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0044g0110
 10 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(7): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02895.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.356-50324A>T
c.356-50324A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105715612
chr7:105715786 G
G
 A
A
 1 a0001c0001t0014g0237
a0001c0001t0014g0237
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.356-50498C>T
c.356-50498C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105715786
chr7:105715891 T
T
 C
C
 2 a0001c0001t0001g0082
a0001c0001t0012g0122
a0001c0001t0001g0082
a0001c0001t0012g0122
 2 HG01257.hp1
HG02300.hp2
HG01257.hp1
HG02300.hp2
 intron_variant MODIFIER c.356-50603A>G
c.356-50603A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105715891
chr7:105715937 T
T
 C
C
 1 a0001c0001t0014g0237
a0001c0001t0014g0237
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.356-50649A>G
c.356-50649A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105715937
chr7:105715941 A
A
 C
C
 2 a0001c0001t0004g0211
a0001c0001t0016g0139
a0001c0001t0004g0211
a0001c0001t0016g0139
 2 NA18522.hp1
NA18906.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.356-50653T>G
c.356-50653T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105715941
chr7:105715953 C
C
 A
A
 61 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
others(58): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0008g0073
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 61 HG00323.hp1
HG00673.hp1
HG00673.hp2
others(58): Show 
HG00323.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG02015.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG04199.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-50665G>T
c.356-50665G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105715953
chr7:105716009 G
G
 A
A
 76 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(73): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0187
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0022g0224
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0003c0003t0005g0079
a0004c0013t0036g0107
 76 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(73): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00738.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02280.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18989.hp1
NA18994.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19088.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-50721C>T
c.356-50721C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716009
chr7:105716151 T
T
 C
C
 10 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0202
others(7): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0044g0110
 10 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(7): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02895.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.356-50863A>G
c.356-50863A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716151
chr7:105716348 C
C
 G
G
 83 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(80): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0047g0121
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 83 HG00323.hp2
HG00642.hp1
HG00738.hp2
others(80): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18954.hp2
NA18962.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-51060G>C
c.356-51060G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716348
chr7:105716403 A
A
 G
G
 1 a0001c0001t0017g0113
a0001c0001t0017g0113
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.356-51115T>C
c.356-51115T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716403
chr7:105716451 G
G
 T
T
 155 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
others(152): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 155 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(152): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18962.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.356-51163C>A
c.356-51163C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716451
chr7:105716467 A
A
 C
C
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-51179T>G
c.356-51179T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716467
chr7:105716650 C
C
 T
T
 119 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
others(116): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
a0007c0009t0007g0096
 119 HG00323.hp2
HG00642.hp1
HG00673.hp2
others(116): Show 
HG00323.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02300.hp1
HG02451.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18962.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-51362G>A
c.356-51362G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716650
chr7:105716665 G
G
 GCA
GCA
 4 a0001c0001t0001g0088
a0001c0001t0010g0091
a0001c0001t0014g0123
others(1): Show 
a0001c0001t0001g0088
a0001c0001t0010g0091
a0001c0001t0014g0123
a0001c0001t0028g0037
 4 HG00673.hp2
HG01167.hp2
HG02735.hp1
others(1): Show 
HG00673.hp2
HG01167.hp2
HG02735.hp1
NA18970.hp2
 intron_variant MODIFIER c.356-51379_356-5137
others(6): Show 
c.356-51379_356-51378dupTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716665
chr7:105716665 G
G
 GCACA
GCACA
 6 a0001c0001t0001g0085
a0001c0001t0002g0186
a0001c0001t0003g0118
others(3): Show 
a0001c0001t0001g0085
a0001c0001t0002g0186
a0001c0001t0003g0118
a0001c0001t0009g0054
a0001c0001t0011g0101
a0001c0001t0048g0132
 6 HG01169.hp2
HG02523.hp2
NA18945.hp1
others(3): Show 
HG01169.hp2
HG02523.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18995.hp1
 intron_variant MODIFIER c.356-51381_356-5137
others(8): Show 
c.356-51381_356-51378dupTGTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716665
chr7:105716665 G
G
 GCACACAC
others(5): Show 
GCACACACACACA
 1 a0001c0001t0010g0032
a0001c0001t0010g0032
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.356-51389_356-5137
others(16): Show 
c.356-51389_356-51378dupTGTGTGTGTGTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716665
chr7:105716665 GCA
GCA
 G
G
 17 a0001c0001t0002g0239
a0001c0001t0003g0011
a0001c0001t0004g0127
others(14): Show 
a0001c0001t0002g0239
a0001c0001t0003g0011
a0001c0001t0004g0127
a0001c0001t0004g0219
a0001c0001t0007g0223
a0001c0001t0009g0097
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0019g0063
a0001c0001t0026g0234
a0001c0001t0029g0215
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0022g0220
a0003c0003t0020g0199
 17 HG00738.hp1
HG01192.hp2
HG01243.hp2
others(14): Show 
HG00738.hp1
HG01192.hp2
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG02148.hp2
HG02723.hp1
HG02723.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp1
NA18906.hp1
NA18943.hp1
NA19030.hp1
NA19054.hp2
 intron_variant MODIFIER c.356-51379_356-5137
others(6): Show 
c.356-51379_356-51378delTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716665
chr7:105716665 GCACA
GCACA
 G
G
 24 a0001c0001t0001g0074
a0001c0001t0001g0181
a0001c0001t0002g0002
others(21): Show 
a0001c0001t0001g0074
a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0004g0084
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0073
a0001c0001t0010g0051
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0122
a0001c0001t0014g0038
a0001c0001t0015g0109
a0001c0001t0016g0069
a0001c0001t0017g0195
a0001c0001t0022g0224
a0001c0001t0026g0189
a0001c0001t0033g0040
a0001c0001t0046g0138
a0001c0001t0058g0018
a0002c0002t0030g0212
a0004c0013t0036g0107
 24 HG00280.hp1
HG01069.hp2
HG01081.hp2
others(21): Show 
HG00280.hp1
HG01069.hp2
HG01081.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01256.hp1
HG01257.hp1
HG02015.hp1
HG02055.hp1
HG02129.hp1
HG02602.hp1
HG02818.hp1
HG03130.hp1
HG03209.hp1
HG03471.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp2
HG04199.hp2
NA18957.hp2
NA19060.hp2
NA19067.hp1
NA20129.hp1
 intron_variant MODIFIER c.356-51381_356-5137
others(8): Show 
c.356-51381_356-51378delTGTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716665
chr7:105716665 GCACACA
GCACACA
 G
G
 32 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
others(29): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0177
a0001c0001t0002g0187
a0001c0001t0004g0211
a0001c0001t0005g0206
a0001c0001t0007g0144
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0011g0012
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0017g0113
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0024g0077
a0001c0001t0028g0114
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0055g0252
 32 HG00280.hp2
HG00673.hp1
HG01099.hp1
others(29): Show 
HG00280.hp2
HG00673.hp1
HG01099.hp1
HG01109.hp2
HG01168.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01952.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02572.hp1
HG03209.hp2
HG03239.hp2
HG03942.hp1
NA18522.hp1
NA18948.hp1
NA18970.hp1
NA18989.hp1
NA18994.hp2
NA19043.hp1
NA19074.hp2
NA19079.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-51383_356-5137
others(10): Show 
c.356-51383_356-51378delTGTGTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716665
chr7:105716665 GCACACAC
others(1): Show 
GCACACACA
 G
G
 40 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0044
others(37): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0044
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0235
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0013g0129
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0020g0120
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0027g0008
a0001c0001t0042g0161
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0008t0014g0165
a0003c0003t0005g0079
 40 HG00558.hp1
HG00558.hp2
HG01192.hp1
others(37): Show 
HG00558.hp1
HG00558.hp2
HG01192.hp1
HG01256.hp2
HG01258.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01978.hp2
HG02071.hp2
HG02132.hp2
HG02145.hp1
HG02165.hp2
HG02523.hp1
HG02647.hp1
HG02738.hp1
HG03139.hp2
HG03225.hp2
HG03490.hp1
HG03669.hp2
HG03688.hp2
HG04199.hp1
HG06807.hp2
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18962.hp1
NA19003.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19074.hp1
NA19088.hp1
 intron_variant MODIFIER c.356-51385_356-5137
others(12): Show 
c.356-51385_356-51378delTGTGTGTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716665
chr7:105716665 GCACACAC
others(3): Show 
GCACACACACA
 G
G
 20 a0001c0001t0001g0003
a0001c0001t0003g0150
a0001c0001t0005g0182
others(17): Show 
a0001c0001t0001g0003
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0006g0001
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0012g0115
a0001c0001t0013g0251
a0001c0001t0018g0058
a0001c0001t0019g0062
a0001c0001t0027g0134
a0001c0001t0035g0151
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0057g0229
a0001c0001t0061g0036
a0001c0001t0063g0041
a0005c0011t0008g0092
a0007c0009t0007g0096
 20 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(17): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01099.hp2
HG01255.hp2
HG01943.hp1
HG02056.hp2
HG02083.hp2
HG02145.hp2
HG02148.hp1
HG02572.hp2
HG02630.hp2
HG02735.hp2
HG02895.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-51387_356-5137
others(14): Show 
c.356-51387_356-51378delTGTGTGTGTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716665
chr7:105716665 GCACACAC
others(5): Show 
GCACACACACACA
 G
G
 6 a0001c0001t0002g0053
a0001c0001t0003g0029
a0001c0001t0006g0197
others(3): Show 
a0001c0001t0002g0053
a0001c0001t0003g0029
a0001c0001t0006g0197
a0001c0001t0013g0156
a0001c0001t0020g0169
a0001c0001t0031g0172
 6 HG01257.hp2
HG01258.hp1
HG02559.hp2
others(3): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp2
HG02895.hp2
NA18957.hp1
NA19005.hp2
 intron_variant MODIFIER c.356-51389_356-5137
others(16): Show 
c.356-51389_356-51378delTGTGTGTGTGTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716665
chr7:105716665 GCACACAC
others(25): Show 
GCACACACACACACACACACACACACACACACA
 G
G
 2 a0001c0001t0010g0111
a0001c0001t0040g0207
a0001c0001t0010g0111
a0001c0001t0040g0207
 2 HG00738.hp2
HG03098.hp2
HG00738.hp2
HG03098.hp2
 intron_variant MODIFIER c.356-51409_356-5137
others(36): Show 
c.356-51409_356-51378delTGTGTGTGTGTGTGTGTGTGTGTGTG
TGTGTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716665
chr7:105716665 GCACACAC
others(27): Show 
GCACACACACACACACACACACACACACACACACA
 G
G
 81 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(78): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0047g0121
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 81 HG00323.hp2
HG00642.hp1
HG00741.hp1
others(78): Show 
HG00323.hp2
HG00642.hp1
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18954.hp2
NA18962.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-51411_356-5137
others(38): Show 
c.356-51411_356-51378delTGTGTGTGTGTGTGTGTGTGTGTGTG
TGTGTGTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716665
chr7:105716808 A
A
 G
G
 1 a0001c0001t0004g0198
a0001c0001t0004g0198
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.356-51520T>C
c.356-51520T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105716808
chr7:105717171 A
A
 C
C
 43 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(40): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0049g0148
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
 43 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(40): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01099.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02735.hp2
HG03239.hp2
HG04199.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18989.hp1
NA18994.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-51883T>G
c.356-51883T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105717171
chr7:105717213 C
C
 T
T
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-51925G>A
c.356-51925G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105717213
chr7:105717276 C
C
 T
T
 138 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(135): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 138 HG00280.hp1
HG00323.hp1
HG00558.hp1
others(135): Show 
HG00280.hp1
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-51988G>A
c.356-51988G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105717276
chr7:105717316 C
C
 T
T
 130 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(127): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 130 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(127): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02895.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-52028G>A
c.356-52028G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105717316
chr7:105717394 G
G
 A
A
 2 a0001c0001t0002g0053
a0001c0001t0011g0152
a0001c0001t0002g0053
a0001c0001t0011g0152
 2 HG00558.hp2
NA19005.hp2
HG00558.hp2
NA19005.hp2
 intron_variant MODIFIER c.356-52106C>T
c.356-52106C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105717394
chr7:105717436 T
T
 G
G
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-52148A>C
c.356-52148A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105717436
chr7:105717544 G
G
 T
T
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.356-52256C>A
c.356-52256C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105717544
chr7:105717634 T
T
 C
C
 4 a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0027g0134
others(1): Show 
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0027g0134
a0001c0001t0044g0110
 4 HG02965.hp1
HG03041.hp2
HG03130.hp2
others(1): Show 
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.356-52346A>G
c.356-52346A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105717634
chr7:105717649 G
G
 A
A
 17 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0003g0150
others(14): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
 17 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(14): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG01891.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02895.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-52361C>T
c.356-52361C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105717649
chr7:105717921 T
T
 A
A
 17 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0003g0150
others(14): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
 17 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(14): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG01891.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02895.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-52633A>T
c.356-52633A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105717921
chr7:105718053 A
A
 G
G
 2 a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0025g0104
a0001c0001t0025g0240
 2 HG01516.hp1
HG03490.hp1
HG01516.hp1
HG03490.hp1
 intron_variant MODIFIER c.356-52765T>C
c.356-52765T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105718053
chr7:105718253 G
G
 A
A
 227 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(224): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 227 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(224): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-52965C>T
c.356-52965C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105718253
chr7:105718340 T
T
 G
G
 2 a0001c0001t0001g0185
a0001c0001t0042g0161
a0001c0001t0001g0185
a0001c0001t0042g0161
 2 NA19009.hp2
NA19010.hp1
NA19009.hp2
NA19010.hp1
 intron_variant MODIFIER c.356-53052A>C
c.356-53052A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105718340
chr7:105718342 C
C
 T
T
 3 a0001c0001t0013g0156
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0013g0156
a0001c0001t0056g0210
a0001c0001t0060g0192
 3 HG02145.hp1
HG02895.hp2
HG03225.hp2
HG02145.hp1
HG02895.hp2
HG03225.hp2
 intron_variant MODIFIER c.356-53054G>A
c.356-53054G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105718342
chr7:105718554 C
C
 T
T
 1 a0001c0001t0003g0071
a0001c0001t0003g0071
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.356-53266G>A
c.356-53266G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105718554
chr7:105718708 C
C
 T
T
 1 a0001c0001t0064g0098
a0001c0001t0064g0098
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.356-53420G>A
c.356-53420G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105718708
chr7:105718760 C
C
 T
T
 3 a0001c0001t0013g0156
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0013g0156
a0001c0001t0056g0210
a0001c0001t0060g0192
 3 HG02145.hp1
HG02895.hp2
HG03225.hp2
HG02145.hp1
HG02895.hp2
HG03225.hp2
 intron_variant MODIFIER c.356-53472G>A
c.356-53472G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105718760
chr7:105718785 G
G
 A
A
 3 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0029g0072
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0029g0072
 3 HG00642.hp1
HG01081.hp1
HG02738.hp2
HG00642.hp1
HG01081.hp1
HG02738.hp2
 intron_variant MODIFIER c.356-53497C>T
c.356-53497C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105718785
chr7:105719107 C
C
 T
T
 1 a0001c0001t0004g0203
a0001c0001t0004g0203
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.356-53819G>A
c.356-53819G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105719107
chr7:105719249 C
C
 G
G
 126 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(123): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 126 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(123): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-53961G>C
c.356-53961G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105719249
chr7:105719272 C
C
 T
T
 93 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(90): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0075
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0134
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0047g0121
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 93 HG00323.hp2
HG00642.hp1
HG00738.hp2
others(90): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18954.hp2
NA18962.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-53984G>A
c.356-53984G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105719272
chr7:105719321 T
T
 C
C
 10 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0202
others(7): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0044g0110
 10 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(7): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02895.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.356-54033A>G
c.356-54033A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105719321
chr7:105719327 G
G
 T
T
 4 a0001c0001t0007g0144
a0001c0001t0013g0156
a0001c0001t0056g0210
others(1): Show 
a0001c0001t0007g0144
a0001c0001t0013g0156
a0001c0001t0056g0210
a0001c0001t0060g0192
 4 HG02145.hp1
HG02895.hp2
HG03225.hp2
others(1): Show 
HG02145.hp1
HG02895.hp2
HG03225.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-54039C>A
c.356-54039C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105719327
chr7:105719447 T
T
 C
C
 231 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(228): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 231 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(228): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-54159A>G
c.356-54159A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105719447
chr7:105719491 C
C
 T
T
 1 a0001c0001t0026g0234
a0001c0001t0026g0234
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.356-54203G>A
c.356-54203G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105719491
chr7:105719575 C
C
 A
A
 213 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(210): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 213 HG00280.hp1
HG00323.hp2
HG00558.hp1
others(210): Show 
HG00280.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-54287G>T
c.356-54287G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105719575
chr7:105719582 C
C
 A
A
 1 a0001c0001t0004g0198
a0001c0001t0004g0198
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.356-54294G>T
c.356-54294G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105719582
chr7:105719692 A
A
 C
C
 2 a0001c0001t0021g0130
a0001c0001t0055g0252
a0001c0001t0021g0130
a0001c0001t0055g0252
 2 HG01884.hp1
NA19240.hp2
HG01884.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-54404T>G
c.356-54404T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105719692
chr7:105719735 T
T
 G
G
 76 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(73): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0022g0224
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0003c0003t0005g0079
a0004c0013t0036g0107
 76 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(73): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00738.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02280.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18989.hp1
NA18994.hp2
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-54447A>C
c.356-54447A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105719735
chr7:105719896 A
A
 G
G
 3 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
 3 HG00323.hp1
HG00741.hp2
HG01069.hp1
HG00323.hp1
HG00741.hp2
HG01069.hp1
 intron_variant MODIFIER c.356-54608T>C
c.356-54608T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105719896
chr7:105719910 A
A
 C
C
 231 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(228): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 231 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(228): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-54622T>G
c.356-54622T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105719910
chr7:105719928 G
G
 A
A
 3 a0001c0001t0007g0144
a0001c0001t0013g0156
a0001c0001t0056g0210
a0001c0001t0007g0144
a0001c0001t0013g0156
a0001c0001t0056g0210
 3 HG02895.hp2
HG03225.hp2
NA20129.hp2
HG02895.hp2
HG03225.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-54640C>T
c.356-54640C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105719928
chr7:105720054 T
T
 G
G
 2 a0001c0001t0006g0022
a0001c0001t0015g0019
a0001c0001t0006g0022
a0001c0001t0015g0019
 2 HG02738.hp1
HG03942.hp1
HG02738.hp1
HG03942.hp1
 intron_variant MODIFIER c.356-54766A>C
c.356-54766A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105720054
chr7:105720065 T
T
 C
C
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.356-54777A>G
c.356-54777A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105720065
chr7:105720151 C
C
 G
G
 1 a0001c0001t0003g0100
a0001c0001t0003g0100
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.356-54863G>C
c.356-54863G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105720151
chr7:105720242 T
T
 C
C
 126 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(123): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 126 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(123): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19086.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-54954A>G
c.356-54954A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105720242
chr7:105720317 T
T
 A
A
 1 a0001c0001t0060g0192
a0001c0001t0060g0192
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.356-55029A>T
c.356-55029A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105720317
chr7:105720468 C
C
 G
G
 231 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(228): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 231 HG00280.hp1
HG00323.hp1
HG00323.hp2
others(228): Show 
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-55180G>C
c.356-55180G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105720468
chr7:105720492 C
C
 T
T
 1 a0001c0001t0005g0014
a0001c0001t0005g0014
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.356-55204G>A
c.356-55204G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105720492
chr7:105720525 C
C
 T
T
 3 a0001c0001t0007g0144
a0001c0001t0013g0156
a0001c0001t0056g0210
a0001c0001t0007g0144
a0001c0001t0013g0156
a0001c0001t0056g0210
 3 HG02895.hp2
HG03225.hp2
NA20129.hp2
HG02895.hp2
HG03225.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-55237G>A
c.356-55237G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105720525
chr7:105720630 C
C
 A
A
 3 a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0031g0172
 3 HG01257.hp2
HG01258.hp1
HG02572.hp2
HG01257.hp2
HG01258.hp1
HG02572.hp2
 intron_variant MODIFIER c.356-55342G>T
c.356-55342G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105720630
chr7:105720872 C
C
 T
T
 11 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0007g0144
others(8): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0007g0144
a0001c0001t0013g0156
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
 11 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(8): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
HG02145.hp1
HG02895.hp2
HG03225.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-55584G>A
c.356-55584G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105720872
chr7:105721078 C
C
 T
T
 36 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0163
others(33): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0163
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0179
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0027
a0001c0001t0006g0067
a0001c0001t0007g0217
a0001c0001t0009g0055
a0001c0001t0011g0099
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0021g0184
a0001c0001t0029g0072
a0001c0001t0051g0035
a0001c0001t0054g0087
a0002c0002t0022g0066
a0002c0002t0059g0200
 36 HG00642.hp1
HG01074.hp1
HG01081.hp1
others(33): Show 
HG00642.hp1
HG01074.hp1
HG01081.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp2
HG02559.hp1
HG02622.hp1
HG02738.hp2
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03471.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18954.hp2
NA18995.hp2
NA19056.hp1
NA19066.hp2
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-55790G>A
c.356-55790G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105721078
chr7:105721122 G
G
 A
A
 1 a0001c0001t0009g0054
a0001c0001t0009g0054
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.356-55834C>T
c.356-55834C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105721122
chr7:105721334 T
T
 C
C
 1 a0001c0001t0003g0100
a0001c0001t0003g0100
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.356-56046A>G
c.356-56046A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105721334
chr7:105721389 T
T
 C
C
 48 a0001c0001t0001g0005
a0001c0001t0001g0033
a0001c0001t0001g0074
others(45): Show 
a0001c0001t0001g0005
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0227
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0028g0114
a0001c0001t0045g0190
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0002c0002t0030g0212
a0006c0010t0031g0204
a0007c0009t0007g0096
 48 HG00323.hp1
HG00673.hp1
HG00741.hp2
others(45): Show 
HG00323.hp1
HG00673.hp1
HG00741.hp2
HG01069.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG02015.hp1
HG02015.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02818.hp1
HG02895.hp2
HG03130.hp1
HG03239.hp1
HG03471.hp2
HG03491.hp1
HG03579.hp2
HG03831.hp2
HG04199.hp2
NA18747.hp1
NA18957.hp2
NA18962.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-56101A>G
c.356-56101A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105721389
chr7:105721815 T
T
 C
C
 1 a0001c0001t0012g0052
a0001c0001t0012g0052
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.356-56527A>G
c.356-56527A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105721815
chr7:105721941 A
A
 G
G
 5 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(2): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0057g0229
a0001c0001t0060g0192
 5 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(2): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG02145.hp1
 intron_variant MODIFIER c.356-56653T>C
c.356-56653T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105721941
chr7:105721993 TGTGA
TGTGA
 T
T
 5 a0001c0001t0001g0033
a0001c0001t0002g0002
a0001c0001t0004g0039
others(2): Show 
a0001c0001t0001g0033
a0001c0001t0002g0002
a0001c0001t0004g0039
a0001c0001t0010g0032
a0001c0006t0001g0112
 5 HG02129.hp1
HG03491.hp2
NA18971.hp1
others(2): Show 
HG02129.hp1
HG03491.hp2
NA18971.hp1
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-56709_356-5670
others(8): Show 
c.356-56709_356-56706delTCAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105721993
chr7:105722222 C
C
 T
T
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.356-56934G>A
c.356-56934G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722222
chr7:105722223 G
G
 A
A
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.356-56935C>T
c.356-56935C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722223
chr7:105722256 G
G
 T
T
 168 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(165): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0006c0010t0031g0204
 168 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(165): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-56968C>A
c.356-56968C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722256
chr7:105722285 G
G
 A
A
 36 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(33): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0109
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0056g0210
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 36 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(33): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-56997C>T
c.356-56997C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722285
chr7:105722345 T
T
 C
C
 60 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(57): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
 60 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(57): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01099.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-57057A>G
c.356-57057A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722345
chr7:105722417 T
T
 C
C
 9 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
others(6): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0044g0110
 9 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.356-57129A>G
c.356-57129A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722417
chr7:105722508 C
C
 G
G
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.356-57220G>C
c.356-57220G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722508
chr7:105722511 A
A
 G
G
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.356-57223T>C
c.356-57223T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722511
chr7:105722514 T
T
 C
C
 1 a0001c0001t0014g0237
a0001c0001t0014g0237
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.356-57226A>G
c.356-57226A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722514
chr7:105722560 T
T
 TA
TA
 7 a0001c0001t0001g0017
a0001c0001t0003g0150
a0001c0001t0004g0127
others(4): Show 
a0001c0001t0001g0017
a0001c0001t0003g0150
a0001c0001t0004g0127
a0001c0001t0010g0032
a0001c0001t0025g0240
a0001c0001t0045g0190
a0005c0011t0008g0092
 7 HG01069.hp1
HG01891.hp2
HG02148.hp1
others(4): Show 
HG01069.hp1
HG01891.hp2
HG02148.hp1
HG03490.hp1
HG03669.hp1
HG03688.hp2
NA19066.hp1
 intron_variant MODIFIER c.356-57273dupT
c.356-57273dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 T
T
 TAA
TAA
 5 a0001c0001t0001g0181
a0001c0001t0005g0182
a0001c0001t0006g0116
others(2): Show 
a0001c0001t0001g0181
a0001c0001t0005g0182
a0001c0001t0006g0116
a0001c0001t0019g0062
a0001c0001t0057g0229
 5 HG00323.hp1
HG00741.hp2
HG01255.hp2
others(2): Show 
HG00323.hp1
HG00741.hp2
HG01255.hp2
HG02818.hp1
NA19043.hp2
 intron_variant MODIFIER c.356-57274_356-5727
others(6): Show 
c.356-57274_356-57273dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 T
T
 TAAAA
TAAAA
 35 a0001c0001t0001g0078
a0001c0001t0001g0145
a0001c0001t0001g0214
others(32): Show 
a0001c0001t0001g0078
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0003g0070
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0203
a0001c0001t0006g0034
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0008g0249
a0001c0001t0009g0146
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0016g0061
a0001c0001t0017g0194
a0001c0001t0021g0184
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0007t0038g0158
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
 35 HG00642.hp1
HG00738.hp1
HG00741.hp1
others(32): Show 
HG00642.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01346.hp2
HG01358.hp2
HG01943.hp2
HG01952.hp1
HG02015.hp2
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03540.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18948.hp1
NA18970.hp1
NA19003.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
 intron_variant MODIFIER c.356-57276_356-5727
others(8): Show 
c.356-57276_356-57273dupTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 T
T
 TAAAAA
TAAAAA
 31 a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0002g0021
others(28): Show 
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0002g0021
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0142
a0001c0001t0002g0179
a0001c0001t0003g0071
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0008g0045
a0001c0001t0009g0020
a0001c0001t0010g0111
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0016g0136
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0021g0130
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0052g0133
a0001c0001t0055g0252
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0033g0221
 31 HG00738.hp2
HG01109.hp1
HG01261.hp1
others(28): Show 
HG00738.hp2
HG01109.hp1
HG01261.hp1
HG01884.hp1
HG01891.hp1
HG01934.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02280.hp1
HG02738.hp2
HG03098.hp2
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA18954.hp2
NA19067.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-57277_356-5727
others(9): Show 
c.356-57277_356-57273dupTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 T
T
 TAAAAAA
TAAAAAA
 10 a0001c0001t0001g0026
a0001c0001t0001g0106
a0001c0001t0002g0042
others(7): Show 
a0001c0001t0001g0026
a0001c0001t0001g0106
a0001c0001t0002g0042
a0001c0001t0002g0056
a0001c0001t0009g0055
a0001c0001t0010g0095
a0001c0001t0015g0193
a0001c0001t0023g0183
a0001c0001t0053g0031
a0001c0001t0054g0087
 10 HG01243.hp1
HG01884.hp2
HG02027.hp1
others(7): Show 
HG01243.hp1
HG01884.hp2
HG02027.hp1
HG02132.hp1
HG03688.hp1
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19066.hp2
NA19086.hp2
 intron_variant MODIFIER c.356-57278_356-5727
others(10): Show 
c.356-57278_356-57273dupTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 T
T
 TAAAAAAA
others(4): Show 
TAAAAAAAAAAA
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.356-57283_356-5727
others(15): Show 
c.356-57283_356-57273dupTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 TA
TA
 T
T
 31 a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0002g0016
others(28): Show 
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0003g0118
a0001c0001t0003g0235
a0001c0001t0004g0084
a0001c0001t0004g0198
a0001c0001t0008g0073
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0013g0241
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0017g0195
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0050g0155
a0001c0006t0001g0112
a0003c0003t0020g0199
a0004c0013t0036g0107
 31 HG00280.hp1
HG00673.hp2
HG00735.hp1
others(28): Show 
HG00280.hp1
HG00673.hp2
HG00735.hp1
HG01069.hp2
HG01081.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01358.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG02165.hp1
HG02602.hp2
HG02622.hp2
HG02735.hp1
HG03209.hp1
HG03491.hp2
HG03831.hp2
NA18945.hp1
NA18945.hp2
NA18957.hp2
NA18971.hp1
NA18994.hp2
 intron_variant MODIFIER c.356-57273delT
c.356-57273delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 TAA
TAA
 T
T
 12 a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
others(9): Show 
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0239
a0001c0001t0005g0126
a0001c0001t0010g0051
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0242
a0001c0001t0014g0083
a0001c0001t0024g0077
a0001c0001t0056g0210
 12 HG00280.hp2
HG00673.hp1
HG01168.hp1
others(9): Show 
HG00280.hp2
HG00673.hp1
HG01168.hp1
HG01243.hp2
HG01257.hp1
HG01433.hp1
HG01496.hp1
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG03225.hp2
HG03942.hp2
 intron_variant MODIFIER c.356-57274_356-5727
others(6): Show 
c.356-57274_356-57273delTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 TAAA
TAAA
 T
T
 5 a0001c0001t0006g0197
a0001c0001t0007g0218
a0001c0001t0012g0232
others(2): Show 
a0001c0001t0006g0197
a0001c0001t0007g0218
a0001c0001t0012g0232
a0001c0001t0020g0169
a0001c0001t0031g0172
 5 HG01167.hp1
HG01257.hp2
HG01258.hp1
others(2): Show 
HG01167.hp1
HG01257.hp2
HG01258.hp1
HG02559.hp2
HG03041.hp2
 intron_variant MODIFIER c.356-57275_356-5727
others(7): Show 
c.356-57275_356-57273delTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 TAAAA
TAAAA
 T
T
 7 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0008g0075
others(4): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0008g0075
a0001c0001t0022g0224
a0001c0001t0027g0134
a0001c0001t0044g0110
a0001c0001t0058g0018
 7 HG02055.hp1
HG02280.hp2
HG02451.hp2
others(4): Show 
HG02055.hp1
HG02280.hp2
HG02451.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03831.hp1
 intron_variant MODIFIER c.356-57276_356-5727
others(8): Show 
c.356-57276_356-57273delTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 TAAAAA
TAAAAA
 T
T
 22 a0001c0001t0001g0003
a0001c0001t0001g0044
a0001c0001t0001g0185
others(19): Show 
a0001c0001t0001g0003
a0001c0001t0001g0044
a0001c0001t0001g0185
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0004g0246
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0012g0064
a0001c0001t0014g0166
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0027g0008
a0001c0001t0034g0068
a0001c0001t0063g0041
 22 HG00558.hp1
HG01261.hp2
HG01981.hp2
others(19): Show 
HG00558.hp1
HG01261.hp2
HG01981.hp2
HG02056.hp2
HG02132.hp2
HG02145.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02735.hp2
HG02738.hp1
HG03139.hp2
HG03239.hp2
NA18943.hp2
NA18962.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19056.hp2
NA19067.hp2
 intron_variant MODIFIER c.356-57277_356-5727
others(9): Show 
c.356-57277_356-57273delTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 TAAAAAA
TAAAAAA
 T
T
 35 a0001c0001t0001g0009
a0001c0001t0001g0080
a0001c0001t0001g0081
others(32): Show 
a0001c0001t0001g0009
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0002g0010
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0004g0211
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0008t0014g0165
a0002c0002t0022g0220
 35 HG00558.hp2
HG01099.hp1
HG01433.hp2
others(32): Show 
HG00558.hp2
HG01099.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG02055.hp2
HG02071.hp2
HG02083.hp2
HG02165.hp2
HG02647.hp1
HG02723.hp2
HG03209.hp2
HG03516.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18989.hp1
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19060.hp1
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-57278_356-5727
others(10): Show 
c.356-57278_356-57273delTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 TAAAAAAA
others(4): Show 
TAAAAAAAAAAA
 T
T
 1 a0001c0001t0006g0067
a0001c0001t0006g0067
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.356-57283_356-5727
others(15): Show 
c.356-57283_356-57273delTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 TAAAAAAA
others(5): Show 
TAAAAAAAAAAAA
 T
T
 1 a0001c0001t0004g0128
a0001c0001t0004g0128
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.356-57284_356-5727
others(16): Show 
c.356-57284_356-57273delTTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 TAAAAAAA
others(6): Show 
TAAAAAAAAAAAAA
 T
T
 2 a0001c0001t0001g0225
a0001c0001t0007g0144
a0001c0001t0001g0225
a0001c0001t0007g0144
 2 NA18522.hp2
NA20129.hp2
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-57285_356-5727
others(17): Show 
c.356-57285_356-57273delTTTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 TAAAAAAA
others(7): Show 
TAAAAAAAAAAAAAA
 T
T
 2 a0001c0001t0013g0156
a0001c0001t0039g0180
a0001c0001t0013g0156
a0001c0001t0039g0180
 2 HG02895.hp2
HG03098.hp1
HG02895.hp2
HG03098.hp1
 intron_variant MODIFIER c.356-57286_356-5727
others(18): Show 
c.356-57286_356-57273delTTTTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 TAAAAAAA
others(8): Show 
TAAAAAAAAAAAAAAA
 T
T
 6 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(3): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0008g0015
a0001c0001t0062g0007
 6 NA18962.hp2
NA18971.hp2
NA18994.hp1
others(3): Show 
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
 intron_variant MODIFIER c.356-57287_356-5727
others(19): Show 
c.356-57287_356-57273delTTTTTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 TAAAAAAA
others(9): Show 
TAAAAAAAAAAAAAAAA
 T
T
 3 a0001c0001t0004g0124
a0001c0001t0018g0131
a0001c0001t0023g0247
a0001c0001t0004g0124
a0001c0001t0018g0131
a0001c0001t0023g0247
 3 HG02135.hp1
HG03239.hp1
NA18747.hp1
HG02135.hp1
HG03239.hp1
NA18747.hp1
 intron_variant MODIFIER c.356-57288_356-5727
others(20): Show 
c.356-57288_356-57273delTTTTTTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 TAAAAAAA
others(10): Show 
TAAAAAAAAAAAAAAAAA
 T
T
 8 a0001c0001t0003g0238
a0001c0001t0004g0219
a0001c0001t0005g0014
others(5): Show 
a0001c0001t0003g0238
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0011g0143
a0001c0001t0016g0069
a0001c0001t0028g0114
a0002c0002t0030g0212
a0007c0009t0007g0096
 8 HG02155.hp1
HG02630.hp2
HG02723.hp1
others(5): Show 
HG02155.hp1
HG02630.hp2
HG02723.hp1
HG03130.hp1
HG03471.hp2
HG03491.hp1
NA19043.hp1
NA19091.hp2
 intron_variant MODIFIER c.356-57289_356-5727
others(21): Show 
c.356-57289_356-57273delTTTTTTTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722560 TAAAAAAA
others(17): Show 
TAAAAAAAAAAAAAAAAAAAAAAAA
 T
T
 1 a0001c0001t0060g0192
a0001c0001t0060g0192
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.356-57296_356-5727
others(28): Show 
c.356-57296_356-57273delTTTTTTTTTTTTTTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722560
chr7:105722616 C
C
 T
T
 2 a0001c0001t0006g0116
a0001c0001t0021g0227
a0001c0001t0006g0116
a0001c0001t0021g0227
 2 HG02622.hp2
NA19043.hp2
HG02622.hp2
NA19043.hp2
 intron_variant MODIFIER c.356-57328G>A
c.356-57328G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722616
chr7:105722628 C
C
 T
T
 2 a0001c0001t0005g0206
a0001c0001t0027g0008
a0001c0001t0005g0206
a0001c0001t0027g0008
 2 HG02055.hp2
HG03139.hp2
HG02055.hp2
HG03139.hp2
 intron_variant MODIFIER c.356-57340G>A
c.356-57340G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722628
chr7:105722630 G
G
 A
A
 2 a0001c0001t0013g0129
a0001c0001t0015g0109
a0001c0001t0013g0129
a0001c0001t0015g0109
 2 HG01256.hp1
HG03669.hp2
HG01256.hp1
HG03669.hp2
 intron_variant MODIFIER c.356-57342C>T
c.356-57342C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722630
chr7:105722654 G
G
 A
A
 2 a0001c0001t0010g0111
a0001c0001t0040g0207
a0001c0001t0010g0111
a0001c0001t0040g0207
 2 HG00738.hp2
HG03098.hp2
HG00738.hp2
HG03098.hp2
 intron_variant MODIFIER c.356-57366C>T
c.356-57366C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722654
chr7:105722851 T
T
 C
C
 168 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(165): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0006c0010t0031g0204
 168 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(165): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-57563A>G
c.356-57563A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722851
chr7:105722880 G
G
 A
A
 8 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(5): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
 8 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(5): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
HG02145.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-57592C>T
c.356-57592C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722880
chr7:105722888 G
G
 GAAATA
GAAATA
 3 a0001c0001t0002g0239
a0001c0001t0012g0232
a0001c0001t0013g0243
a0001c0001t0002g0239
a0001c0001t0012g0232
a0001c0001t0013g0243
 3 HG01167.hp1
HG01433.hp1
HG01515.hp1
HG01167.hp1
HG01433.hp1
HG01515.hp1
 intron_variant MODIFIER c.356-57605_356-5760
others(9): Show 
c.356-57605_356-57601dupTATTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722888
chr7:105722888 GAAATAAA
others(3): Show 
GAAATAAAATA
 G
G
 9 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
others(6): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0044g0110
 9 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.356-57610_356-5760
others(14): Show 
c.356-57610_356-57601delTATTTTATTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722888
chr7:105722899 A
A
 C
C
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.356-57611T>G
c.356-57611T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105722899
chr7:105723108 T
T
 C
C
 1 a0001c0001t0049g0148
a0001c0001t0049g0148
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.356-57820A>G
c.356-57820A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105723108
chr7:105723126 G
G
 T
T
 17 a0001c0001t0001g0074
a0001c0001t0001g0119
a0001c0001t0002g0002
others(14): Show 
a0001c0001t0001g0074
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0024
a0001c0001t0006g0197
a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 17 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(14): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02559.hp2
HG03831.hp2
HG04199.hp2
NA18957.hp2
 intron_variant MODIFIER c.356-57838C>A
c.356-57838C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105723126
chr7:105723224 C
C
 T
T
 36 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(33): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0109
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0056g0210
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 36 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(33): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-57936G>A
c.356-57936G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105723224
chr7:105723347 T
T
 C
C
 2 a0001c0001t0001g0059
a0001c0001t0015g0060
a0001c0001t0001g0059
a0001c0001t0015g0060
 2 HG00642.hp2
HG01175.hp1
HG00642.hp2
HG01175.hp1
 intron_variant MODIFIER c.356-58059A>G
c.356-58059A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105723347
chr7:105723354 C
C
 T
T
 1 a0001c0001t0006g0117
a0001c0001t0006g0117
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.356-58066G>A
c.356-58066G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105723354
chr7:105723355 G
G
 A
A
 1 a0001c0001t0012g0244
a0001c0001t0012g0244
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.356-58067C>T
c.356-58067C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105723355
chr7:105723453 G
G
 A
A
 1 a0001c0001t0014g0237
a0001c0001t0014g0237
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.356-58165C>T
c.356-58165C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105723453
chr7:105723775 T
T
 C
C
 229 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(226): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 229 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(226): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-58487A>G
c.356-58487A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105723775
chr7:105723812 A
A
 G
G
 107 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(104): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0006c0010t0031g0204
 107 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(104): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-58524T>C
c.356-58524T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105723812
chr7:105723857 G
G
 A
A
 8 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(5): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
 8 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(5): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
HG02145.hp1
NA19240.hp2
 intron_variant MODIFIER c.356-58569C>T
c.356-58569C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105723857
chr7:105724067 C
C
 T
T
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.356-58779G>A
c.356-58779G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724067
chr7:105724296 G
G
 A
A
 1 a0001c0001t0004g0137
a0001c0001t0004g0137
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.356-59008C>T
c.356-59008C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724296
chr7:105724443 G
G
 A
A
 1 a0001c0001t0002g0016
a0001c0001t0002g0016
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.356-59155C>T
c.356-59155C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724443
chr7:105724569 G
G
 C
C
 9 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
others(6): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0044g0110
 9 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.356-59281C>G
c.356-59281C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724569
chr7:105724573 C
C
 CA
CA
 43 a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0059
others(40): Show 
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0080
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0167
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0235
a0001c0001t0004g0127
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0013g0241
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0026g0234
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0063g0041
a0003c0003t0020g0199
 43 HG00642.hp2
HG00673.hp1
HG01081.hp2
others(40): Show 
HG00642.hp2
HG00673.hp1
HG01081.hp2
HG01099.hp1
HG01175.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp2
HG02055.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02148.hp2
HG02559.hp2
HG02630.hp1
HG02738.hp1
HG03209.hp2
HG03239.hp2
HG03669.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18943.hp2
NA18954.hp1
NA18957.hp1
NA18989.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19088.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.356-59286dupT
c.356-59286dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724573
chr7:105724573 C
C
 CAA
CAA
 6 a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0007g0223
others(3): Show 
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0007g0223
a0001c0001t0010g0093
a0001c0001t0017g0195
a0001c0008t0014g0165
 6 HG01978.hp2
HG02055.hp2
HG02056.hp2
others(3): Show 
HG01978.hp2
HG02055.hp2
HG02056.hp2
HG03209.hp1
HG03516.hp1
NA18948.hp2
 intron_variant MODIFIER c.356-59287_356-5928
others(6): Show 
c.356-59287_356-59286dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724573
chr7:105724573 CAAAAAA
CAAAAAA
 C
C
 7 a0001c0001t0004g0039
a0001c0001t0006g0116
a0001c0001t0010g0032
others(4): Show 
a0001c0001t0004g0039
a0001c0001t0006g0116
a0001c0001t0010g0032
a0001c0001t0012g0052
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0064g0098
 7 HG00735.hp2
HG02135.hp2
HG02523.hp2
others(4): Show 
HG00735.hp2
HG02135.hp2
HG02523.hp2
HG02602.hp2
NA19043.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-59291_356-5928
others(10): Show 
c.356-59291_356-59286delTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724573
chr7:105724573 CAAAAAAA
CAAAAAAA
 C
C
 22 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(19): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0005c0011t0008g0092
 22 HG00673.hp2
HG01167.hp2
HG01169.hp2
others(19): Show 
HG00673.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01346.hp1
HG02083.hp1
HG02148.hp1
HG02165.hp1
HG02735.hp1
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19054.hp2
 intron_variant MODIFIER c.356-59292_356-5928
others(11): Show 
c.356-59292_356-59286delTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724573
chr7:105724573 CAAAAAAA
others(2): Show 
CAAAAAAAAA
 C
C
 8 a0001c0001t0001g0205
a0001c0001t0007g0218
a0001c0001t0008g0075
others(5): Show 
a0001c0001t0001g0205
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0044g0110
 8 HG01257.hp2
HG01258.hp1
HG02451.hp2
others(5): Show 
HG01257.hp2
HG01258.hp1
HG02451.hp2
HG02572.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.356-59294_356-5928
others(13): Show 
c.356-59294_356-59286delTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724573
chr7:105724573 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.356-59295_356-5928
others(14): Show 
c.356-59295_356-59286delTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724573
chr7:105724573 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 C
C
 4 a0001c0001t0001g0108
a0001c0001t0011g0143
a0001c0001t0023g0247
others(1): Show 
a0001c0001t0001g0108
a0001c0001t0011g0143
a0001c0001t0023g0247
a0001c0001t0054g0087
 4 HG01261.hp1
HG02135.hp1
NA18995.hp2
others(1): Show 
HG01261.hp1
HG02135.hp1
NA18995.hp2
NA19091.hp2
 intron_variant MODIFIER c.356-59297_356-5928
others(16): Show 
c.356-59297_356-59286delTTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724573
chr7:105724573 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 C
C
 102 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(99): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0006c0010t0031g0204
 102 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(99): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-59298_356-5928
others(17): Show 
c.356-59298_356-59286delTTTTTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724573
chr7:105724610 C
C
 T
T
 2 a0001c0001t0001g0003
a0001c0001t0009g0013
a0001c0001t0001g0003
a0001c0001t0009g0013
 2 HG02735.hp2
HG03239.hp2
HG02735.hp2
HG03239.hp2
 intron_variant MODIFIER c.356-59322G>A
c.356-59322G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724610
chr7:105724709 T
T
 C
C
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.356-59421A>G
c.356-59421A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724709
chr7:105724791 C
C
 G
G
 35 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(32): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0109
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 35 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(32): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG03130.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-59503G>C
c.356-59503G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724791
chr7:105724807 T
T
 TCTCTTAT
others(306): Show 
TCTCTTATTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT
GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCC
GCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG
GACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTA
GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC
GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC
CACCGCGCCCGGCC
 28 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
others(25): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0097
a0001c0001t0010g0091
a0001c0001t0012g0052
a0001c0001t0014g0123
a0001c0001t0015g0109
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 28 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(25): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG03130.hp1
HG03471.hp2
HG03491.hp2
HG03688.hp2
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19086.hp1
 intron_variant MODIFIER c.356-59520_356-5951
others(317): Show 
c.356-59520_356-59519insGGCCGGGCGCGGTGGCTCACGCCTGT
AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA
TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC
AAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG
GAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGT
GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAAGAGAATAAGAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724807
chr7:105724807 T
T
 TCTCTTAT
others(306): Show 
TCTCTTATTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT
GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCC
GCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG
GACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTA
GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC
GTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC
CACCGCGCCCGGCC
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.356-59520_356-5951
others(317): Show 
c.356-59520_356-59519insGGCCGGGCGCGGTGGCTCACGCCTGT
AATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGA
TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC
AAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG
GAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGT
GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAAGAGAATAAGAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724807
chr7:105724807 T
T
 TCTCTTAT
others(307): Show 
TCTCTTATTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC
TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC
CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG
GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT
AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT
CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG
CCACCGCGCCCGGCC
 7 a0001c0001t0001g0085
a0001c0001t0003g0011
a0001c0001t0009g0054
others(4): Show 
a0001c0001t0001g0085
a0001c0001t0003g0011
a0001c0001t0009g0054
a0001c0001t0010g0032
a0001c0001t0011g0101
a0001c0001t0013g0129
a0001c0004t0010g0154
 7 HG03490.hp2
HG03669.hp2
NA18943.hp1
others(4): Show 
HG03490.hp2
HG03669.hp2
NA18943.hp1
NA18945.hp2
NA18950.hp2
NA18995.hp1
NA19066.hp1
 intron_variant MODIFIER c.356-59520_356-5951
others(318): Show 
c.356-59520_356-59519insGGCCGGGCGCGGTGGCTCACGCCTGT
AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA
TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC
AAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG
GAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGT
GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAAAGAGAATAAGAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724807
chr7:105724814 T
T
 C
C
 105 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(102): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0006c0010t0031g0204
 105 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(102): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-59526A>G
c.356-59526A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724814
chr7:105724895 T
T
 C
C
 4 a0001c0001t0001g0181
a0002c0002t0030g0208
a0002c0002t0032g0226
others(1): Show 
a0001c0001t0001g0181
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0033g0221
 4 HG01074.hp2
HG02818.hp1
HG02896.hp2
others(1): Show 
HG01074.hp2
HG02818.hp1
HG02896.hp2
HG03540.hp2
 intron_variant MODIFIER c.356-59607A>G
c.356-59607A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105724895
chr7:105725032 T
T
 C
C
 1 a0001c0001t0019g0062
a0001c0001t0019g0062
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.356-59744A>G
c.356-59744A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725032
chr7:105725141 G
G
 A
A
 6 a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0010g0111
others(3): Show 
a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0010g0111
a0001c0001t0016g0136
a0001c0001t0040g0207
a0001c0001t0047g0121
 6 HG00738.hp2
HG00741.hp1
HG01261.hp1
others(3): Show 
HG00738.hp2
HG00741.hp1
HG01261.hp1
HG01358.hp2
HG03098.hp2
NA18906.hp2
 intron_variant MODIFIER c.356-59853C>T
c.356-59853C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725141
chr7:105725183 A
A
 G
G
 28 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(25): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0005c0011t0008g0092
 28 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(25): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02602.hp2
HG02735.hp1
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-59895T>C
c.356-59895T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725183
chr7:105725244 G
G
 T
T
 1 a0001c0001t0025g0240
a0001c0001t0025g0240
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.356-59956C>A
c.356-59956C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725244
chr7:105725299 G
G
 C
C
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.356-60011C>G
c.356-60011C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725299
chr7:105725542 T
T
 C
C
 1 a0001c0001t0001g0102
a0001c0001t0001g0102
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.356-60254A>G
c.356-60254A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725542
chr7:105725556 A
A
 C
C
 1 a0001c0001t0012g0052
a0001c0001t0012g0052
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.356-60268T>G
c.356-60268T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725556
chr7:105725583 C
C
 CT
CT
 95 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(92): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
 95 HG00323.hp2
HG00738.hp1
HG00738.hp2
others(92): Show 
HG00323.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-60296dupA
c.356-60296dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725583
chr7:105725589 T
T
 C
C
 2 a0001c0001t0007g0144
a0001c0001t0013g0156
a0001c0001t0007g0144
a0001c0001t0013g0156
 2 HG02895.hp2
NA20129.hp2
HG02895.hp2
NA20129.hp2
 intron_variant MODIFIER c.356-60301A>G
c.356-60301A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725589
chr7:105725691 G
G
 A
A
 35 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(32): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0109
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 35 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(32): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG03130.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.356-60403C>T
c.356-60403C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725691
chr7:105725903 CT
CT
 C
C
 104 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(101): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
 104 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(101): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-60616delA
c.356-60616delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725903
chr7:105725907 T
T
 C
C
 16 a0001c0001t0001g0181
a0001c0001t0004g0211
a0001c0001t0006g0022
others(13): Show 
a0001c0001t0001g0181
a0001c0001t0004g0211
a0001c0001t0006g0022
a0001c0001t0012g0064
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0028g0114
a0001c0001t0034g0068
a0001c0001t0041g0196
a0001c0001t0046g0138
a0001c0001t0058g0018
a0002c0002t0022g0220
 16 HG01261.hp2
HG02055.hp1
HG02572.hp1
others(13): Show 
HG01261.hp2
HG02055.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp2
HG03831.hp1
HG03942.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp1
 intron_variant MODIFIER c.356-60619A>G
c.356-60619A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725907
chr7:105725939 G
G
 A
A
 4 a0001c0001t0003g0171
a0001c0001t0009g0020
a0001c0001t0014g0233
others(1): Show 
a0001c0001t0003g0171
a0001c0001t0009g0020
a0001c0001t0014g0233
a0001c0007t0038g0158
 4 HG01943.hp2
HG01952.hp2
HG01981.hp1
others(1): Show 
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02300.hp1
 intron_variant MODIFIER c.356-60651C>T
c.356-60651C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725939
chr7:105725941 C
C
 T
T
 1 a0001c0001t0005g0248
a0001c0001t0005g0248
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.356-60653G>A
c.356-60653G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725941
chr7:105725987 C
C
 T
T
 103 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(100): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
 103 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(100): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-60699G>A
c.356-60699G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105725987
chr7:105726166 T
T
 A
A
 9 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
others(6): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0044g0110
 9 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.356-60878A>T
c.356-60878A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105726166
chr7:105726191 T
T
 A
A
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.356-60903A>T
c.356-60903A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105726191
chr7:105726193 C
C
 T
T
 2 a0001c0001t0009g0141
a0001c0008t0014g0165
a0001c0001t0009g0141
a0001c0008t0014g0165
 2 NA18948.hp2
NA19074.hp1
NA18948.hp2
NA19074.hp1
 intron_variant MODIFIER c.356-60905G>A
c.356-60905G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105726193
chr7:105726194 G
G
 A
A
 1 a0001c0001t0006g0168
a0001c0001t0006g0168
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.356-60906C>T
c.356-60906C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105726194
chr7:105726235 T
T
 C
C
 229 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(226): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 229 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(226): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-60947A>G
c.356-60947A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105726235
chr7:105726243 A
A
 C
C
 1 a0002c0002t0032g0149
a0002c0002t0032g0149
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.356-60955T>G
c.356-60955T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105726243
chr7:105726328 C
C
 A
A
 1 a0001c0001t0010g0095
a0001c0001t0010g0095
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.356-61040G>T
c.356-61040G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105726328
chr7:105726381 C
C
 A
A
 1 a0001c0001t0025g0104
a0001c0001t0025g0104
 1 HG01516.hp1
HG01516.hp1
 intron_variant MODIFIER c.356-61093G>T
c.356-61093G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105726381
chr7:105726406 G
G
 T
T
 1 a0001c0001t0006g0168
a0001c0001t0006g0168
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.356-61118C>A
c.356-61118C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105726406
chr7:105726603 G
G
 A
A
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.356-61315C>T
c.356-61315C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105726603
chr7:105726755 C
C
 G
G
 5 a0001c0001t0001g0145
a0001c0001t0006g0117
a0001c0001t0010g0228
others(2): Show 
a0001c0001t0001g0145
a0001c0001t0006g0117
a0001c0001t0010g0228
a0001c0001t0039g0180
a0002c0002t0032g0149
 5 HG02451.hp1
HG02818.hp2
HG02896.hp1
others(2): Show 
HG02451.hp1
HG02818.hp2
HG02896.hp1
HG03098.hp1
HG03540.hp1
 intron_variant MODIFIER c.356-61467G>C
c.356-61467G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105726755
chr7:105726846 G
G
 A
A
 2 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0205
a0001c0001t0001g0222
 2 HG02280.hp2
HG02451.hp2
HG02280.hp2
HG02451.hp2
 intron_variant MODIFIER c.356-61558C>T
c.356-61558C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105726846
chr7:105727052 G
G
 A
A
 165 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(162): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0006c0010t0031g0204
 165 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(162): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+61552C>T
c.355+61552C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727052
chr7:105727067 C
C
 A
A
 95 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(92): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
 95 HG00323.hp2
HG00642.hp1
HG00738.hp1
others(92): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+61537G>T
c.355+61537G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727067
chr7:105727196 A
A
 G
G
 1 a0001c0001t0017g0195
a0001c0001t0017g0195
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.355+61408T>C
c.355+61408T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727196
chr7:105727441 C
C
 T
T
 1 a0001c0001t0014g0038
a0001c0001t0014g0038
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.355+61163G>A
c.355+61163G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727441
chr7:105727564 G
G
 A
A
 95 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(92): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
 95 HG00323.hp2
HG00642.hp1
HG00738.hp1
others(92): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+61040C>T
c.355+61040C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727564
chr7:105727669 C
C
 CA
CA
 112 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(109): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
 112 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(109): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+60934dupT
c.355+60934dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727669
chr7:105727723 TA
TA
 T
T
 16 a0001c0001t0001g0074
a0001c0001t0001g0119
a0001c0001t0002g0002
others(13): Show 
a0001c0001t0001g0074
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0024
a0001c0001t0006g0197
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 16 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(13): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02559.hp2
HG03831.hp2
HG04199.hp2
NA18957.hp2
NA18994.hp2
 intron_variant MODIFIER c.355+60880delT
c.355+60880delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727723
chr7:105727738 G
G
 A
A
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.355+60866C>T
c.355+60866C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727738
chr7:105727740 A
A
 G
G
 3 a0001c0001t0002g0179
a0001c0001t0007g0144
a0001c0001t0013g0156
a0001c0001t0002g0179
a0001c0001t0007g0144
a0001c0001t0013g0156
 3 HG02895.hp2
NA18954.hp2
NA20129.hp2
HG02895.hp2
NA18954.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+60864T>C
c.355+60864T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727740
chr7:105727742 G
G
 GTGTATAT
others(11): Show 
GTGTATATATATATATATA
 2 a0001c0001t0021g0130
a0001c0001t0055g0252
a0001c0001t0021g0130
a0001c0001t0055g0252
 2 HG01884.hp1
NA19240.hp2
HG01884.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+60861_355+6086
others(22): Show 
c.355+60861_355+60862insTATATATATATATATACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727742
chr7:105727744 G
G
 GTATATAT
others(3): Show 
GTATATATATA
 1 a0001c0001t0001g0009
a0001c0001t0001g0009
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.355+60859_355+6086
others(14): Show 
c.355+60859_355+60860insTATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727744
chr7:105727744 G
G
 GTATATAT
others(49): Show 
GTATATATATATATATATATATATATATATATATACATATATATATATAT
ATATGTA
 1 a0001c0001t0019g0062
a0001c0001t0019g0062
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.355+60859_355+6086
others(60): Show 
c.355+60859_355+60860insTACATATATATATATATATATGTATA
TATATATATATATATATATATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727744
chr7:105727746 G
G
 A
A
 68 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(65): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 68 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(65): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01099.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02895.hp2
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+60858C>T
c.355+60858C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTATATAT
others(5): Show 
GTATATATATATA
 1 a0001c0001t0018g0058
a0001c0001t0018g0058
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.355+60846_355+6085
others(16): Show 
c.355+60846_355+60857dupTATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTATATAT
others(7): Show 
GTATATATATATATA
 4 a0001c0001t0006g0116
a0001c0001t0020g0169
a0001c0001t0021g0227
others(1): Show 
a0001c0001t0006g0116
a0001c0001t0020g0169
a0001c0001t0021g0227
a0001c0001t0031g0172
 4 HG01257.hp2
HG01258.hp1
HG02622.hp2
others(1): Show 
HG01257.hp2
HG01258.hp1
HG02622.hp2
NA19043.hp2
 intron_variant MODIFIER c.355+60844_355+6085
others(18): Show 
c.355+60844_355+60857dupTATATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTATATAT
others(9): Show 
GTATATATATATATATA
 3 a0001c0001t0028g0114
a0002c0002t0030g0212
a0007c0009t0007g0096
a0001c0001t0028g0114
a0002c0002t0030g0212
a0007c0009t0007g0096
 3 HG02630.hp2
HG03471.hp2
NA19043.hp1
HG02630.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.355+60842_355+6085
others(20): Show 
c.355+60842_355+60857dupTATATATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTATATGT
others(9): Show 
GTATATGTATATATATA
 1 a0001c0001t0001g0088
a0001c0001t0001g0088
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.355+60857_355+6085
others(20): Show 
c.355+60857_355+60858insTATATATATACATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTGTATA
GTGTATA
 3 a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0018g0046
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0018g0046
 3 HG02027.hp2
NA19003.hp2
NA19085.hp2
HG02027.hp2
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.355+60857_355+6085
others(10): Show 
c.355+60857_355+60858insTATACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTGTATAT
others(1): Show 
GTGTATATA
 4 a0001c0001t0002g0142
a0001c0001t0002g0177
a0001c0001t0021g0184
others(1): Show 
a0001c0001t0002g0142
a0001c0001t0002g0177
a0001c0001t0021g0184
a0002c0002t0032g0149
 4 HG02818.hp2
NA18948.hp1
NA19088.hp2
others(1): Show 
HG02818.hp2
NA18948.hp1
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.355+60857_355+6085
others(12): Show 
c.355+60857_355+60858insTATATACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTGTATAT
others(3): Show 
GTGTATATATA
 11 a0001c0001t0001g0078
a0001c0001t0003g0100
a0001c0001t0005g0025
others(8): Show 
a0001c0001t0001g0078
a0001c0001t0003g0100
a0001c0001t0005g0025
a0001c0001t0006g0034
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0017g0194
a0001c0001t0026g0189
a0001c0001t0037g0065
a0002c0002t0022g0066
a0003c0003t0005g0079
 11 HG01074.hp1
HG01109.hp1
HG02015.hp2
others(8): Show 
HG01074.hp1
HG01109.hp1
HG02015.hp2
HG02155.hp2
HG02280.hp1
HG03225.hp1
HG06807.hp2
NA18747.hp2
NA18970.hp1
NA19060.hp2
NA19067.hp1
 intron_variant MODIFIER c.355+60857_355+6085
others(14): Show 
c.355+60857_355+60858insTATATATACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTGTATAT
others(5): Show 
GTGTATATATATA
 19 a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0214
others(16): Show 
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0147
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0006g0117
a0001c0001t0007g0217
a0001c0001t0009g0055
a0001c0001t0010g0228
a0001c0001t0016g0061
a0001c0001t0019g0178
 19 HG01934.hp1
HG01952.hp1
HG02071.hp1
others(16): Show 
HG01934.hp1
HG01952.hp1
HG02071.hp1
HG02132.hp1
HG02451.hp1
HG02559.hp1
HG02896.hp1
HG02965.hp2
HG03471.hp1
HG03491.hp1
HG03540.hp1
HG06807.hp1
NA18522.hp2
NA19056.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19086.hp2
NA19087.hp1
 intron_variant MODIFIER c.355+60857_355+6085
others(16): Show 
c.355+60857_355+60858insTATATATATACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTGTATAT
others(7): Show 
GTGTATATATATATA
 16 a0001c0001t0001g0163
a0001c0001t0002g0021
a0001c0001t0002g0162
others(13): Show 
a0001c0001t0001g0163
a0001c0001t0002g0021
a0001c0001t0002g0162
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0171
a0001c0001t0004g0137
a0001c0001t0008g0045
a0001c0001t0009g0020
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0007t0038g0158
 16 HG00642.hp1
HG00738.hp1
HG01081.hp1
others(13): Show 
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG01346.hp2
HG01358.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02129.hp2
HG02300.hp1
HG03579.hp1
NA18995.hp2
NA19054.hp1
NA19079.hp1
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.355+60857_355+6085
others(18): Show 
c.355+60857_355+60858insTATATATATATACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTGTATAT
others(9): Show 
GTGTATATATATATATA
 22 a0001c0001t0001g0026
a0001c0001t0001g0108
a0001c0001t0002g0042
others(19): Show 
a0001c0001t0001g0026
a0001c0001t0001g0108
a0001c0001t0002g0042
a0001c0001t0003g0030
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0008g0015
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0016g0069
a0001c0001t0018g0131
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0005t0007g0209
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 22 HG01074.hp2
HG01261.hp1
HG01891.hp1
others(19): Show 
HG01074.hp2
HG01261.hp1
HG01891.hp1
HG02027.hp1
HG02056.hp1
HG02135.hp1
HG02155.hp1
HG02622.hp1
HG02738.hp2
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03540.hp2
HG03688.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18989.hp2
NA19000.hp1
NA19087.hp2
NA20300.hp2
 intron_variant MODIFIER c.355+60857_355+6085
others(20): Show 
c.355+60857_355+60858insTATATATATATATACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTGTATAT
others(11): Show 
GTGTATATATATATATATA
 8 a0001c0001t0001g0005
a0001c0001t0001g0201
a0001c0001t0006g0168
others(5): Show 
a0001c0001t0001g0005
a0001c0001t0001g0201
a0001c0001t0006g0168
a0001c0001t0010g0111
a0001c0001t0016g0136
a0001c0001t0040g0207
a0001c0001t0052g0133
a0001c0001t0053g0031
 8 HG00738.hp2
HG00741.hp1
HG01884.hp2
others(5): Show 
HG00738.hp2
HG00741.hp1
HG01884.hp2
HG02647.hp2
HG03098.hp2
HG03516.hp2
NA18906.hp2
NA18994.hp1
 intron_variant MODIFIER c.355+60857_355+6085
others(22): Show 
c.355+60857_355+60858insTATATATATATATATACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTGTATAT
others(13): Show 
GTGTATATATATATATATATA
 2 a0001c0001t0011g0143
a0001c0001t0062g0007
a0001c0001t0011g0143
a0001c0001t0062g0007
 2 NA19000.hp2
NA19091.hp2
NA19000.hp2
NA19091.hp2
 intron_variant MODIFIER c.355+60857_355+6085
others(24): Show 
c.355+60857_355+60858insTATATATATATATATATACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTGTATAT
others(15): Show 
GTGTATATATATATATATATATA
 2 a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0004
a0001c0001t0003g0006
 2 NA19009.hp1
NA19010.hp2
NA19009.hp1
NA19010.hp2
 intron_variant MODIFIER c.355+60857_355+6085
others(26): Show 
c.355+60857_355+60858insTATATATATATATATATATACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTGTGTAT
others(5): Show 
GTGTGTATATATA
 2 a0001c0001t0005g0027
a0001c0001t0018g0094
a0001c0001t0005g0027
a0001c0001t0018g0094
 2 HG01934.hp2
HG01978.hp1
HG01934.hp2
HG01978.hp1
 intron_variant MODIFIER c.355+60857_355+6085
others(16): Show 
c.355+60857_355+60858insTATATATACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTGTGTAT
others(9): Show 
GTGTGTATATATATATA
 1 a0001c0001t0014g0237
a0001c0001t0014g0237
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.355+60857_355+6085
others(20): Show 
c.355+60857_355+60858insTATATATATATACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTGTGTAT
others(11): Show 
GTGTGTATATATATATATA
 1 a0001c0001t0015g0193
a0001c0001t0015g0193
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.355+60857_355+6085
others(22): Show 
c.355+60857_355+60858insTATATATATATATACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 G
G
 GTGTGTAT
others(15): Show 
GTGTGTATATATATATATATATA
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.355+60857_355+6085
others(26): Show 
c.355+60857_355+60858insTATATATATATATATATACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 GTA
GTA
 G
G
 11 a0001c0001t0001g0082
a0001c0001t0004g0084
a0001c0001t0007g0202
others(8): Show 
a0001c0001t0001g0082
a0001c0001t0004g0084
a0001c0001t0007g0202
a0001c0001t0012g0122
a0001c0001t0017g0195
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0033g0040
a0003c0003t0020g0199
a0004c0013t0036g0107
 11 HG00280.hp1
HG01069.hp2
HG01081.hp2
others(8): Show 
HG00280.hp1
HG01069.hp2
HG01081.hp2
HG01257.hp1
HG01358.hp1
HG01516.hp1
HG02148.hp2
HG02300.hp2
HG02895.hp1
HG03209.hp1
HG03490.hp1
 intron_variant MODIFIER c.355+60856_355+6085
others(6): Show 
c.355+60856_355+60857delTA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727746 GTATATAT
others(3): Show 
GTATATATATA
 G
G
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.355+60848_355+6085
others(14): Show 
c.355+60848_355+60857delTATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727746
chr7:105727748 A
A
 ATATATAT
others(45): Show 
ATATATATATATATATATATATATATATATATACATATATATATATATAT
ATG
 1 a0001c0001t0003g0150
a0001c0001t0003g0150
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.355+60855_355+6085
others(56): Show 
c.355+60855_355+60856insCATATATATATATATATATGTATATA
TATATATATATATATATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727748
chr7:105727748 A
A
 ATATATAT
others(33): Show 
ATATATATATATATATATATATATATATATATATATATATG
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.355+60855_355+6085
others(44): Show 
c.355+60855_355+60856insCATATATATATATATATATATATATA
TATATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727748
chr7:105727748 A
A
 G
G
 2 a0001c0001t0008g0249
a0001c0001t0060g0192
a0001c0001t0008g0249
a0001c0001t0060g0192
 2 HG02145.hp1
NA19074.hp2
HG02145.hp1
NA19074.hp2
 intron_variant MODIFIER c.355+60856T>C
c.355+60856T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727748
chr7:105727750 A
A
 ATATATAT
others(41): Show 
ATATATATATATATATATATATATATACACATATATATATATATATATG
 1 a0001c0001t0057g0229
a0001c0001t0057g0229
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.355+60853_355+6085
others(52): Show 
c.355+60853_355+60854insCATATATATATATATATATGTGTATA
TATATATATATATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727750
chr7:105727750 A
A
 ATATATAT
others(43): Show 
ATATATATATATATATATATATATATATATACATATATATATATATATAT
G
 1 a0001c0001t0005g0182
a0001c0001t0005g0182
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.355+60853_355+6085
others(54): Show 
c.355+60853_355+60854insCATATATATATATATATATGTATATA
TATATATATATATATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727750
chr7:105727751 T
T
 TATATACA
others(3): Show 
TATATACATAC
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.355+60852_355+6085
others(14): Show 
c.355+60852_355+60853insGTATGTATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727751
chr7:105727756 A
A
 G
G
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+60848T>C
c.355+60848T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727756
chr7:105727758 A
A
 G
G
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+60846T>C
c.355+60846T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727758
chr7:105727764 A
A
 G
G
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.355+60840T>C
c.355+60840T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727764
chr7:105727767 T
T
 TATATATA
TATATATA
 3 a0001c0001t0005g0206
a0001c0001t0014g0166
a0001c0001t0027g0008
a0001c0001t0005g0206
a0001c0001t0014g0166
a0001c0001t0027g0008
 3 HG01981.hp2
HG02055.hp2
HG03139.hp2
HG01981.hp2
HG02055.hp2
HG03139.hp2
 intron_variant MODIFIER c.355+60830_355+6083
others(11): Show 
c.355+60830_355+60836dupTATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727767
chr7:105727767 T
T
 TATATATA
others(2): Show 
TATATATATA
 4 a0001c0001t0001g0181
a0001c0001t0015g0019
a0001c0001t0046g0138
others(1): Show 
a0001c0001t0001g0181
a0001c0001t0015g0019
a0001c0001t0046g0138
a0002c0002t0022g0220
 4 HG02723.hp2
HG02818.hp1
HG03942.hp1
others(1): Show 
HG02723.hp2
HG02818.hp1
HG03942.hp1
NA20129.hp1
 intron_variant MODIFIER c.355+60828_355+6083
others(13): Show 
c.355+60828_355+60836dupTATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727767
chr7:105727767 T
T
 TATATATA
others(4): Show 
TATATATATATA
 33 a0001c0001t0001g0003
a0001c0001t0001g0044
a0001c0001t0001g0102
others(30): Show 
a0001c0001t0001g0003
a0001c0001t0001g0044
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0012g0115
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0049g0148
a0001c0001t0063g0041
 33 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(30): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01433.hp2
HG01496.hp2
HG01943.hp1
HG01978.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02145.hp2
HG02165.hp2
HG02630.hp1
HG02647.hp1
HG02735.hp2
HG03209.hp2
HG03239.hp2
HG03516.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18962.hp1
NA18989.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19088.hp1
NA19091.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+60826_355+6083
others(15): Show 
c.355+60826_355+60836dupTATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727767
chr7:105727767 T
T
 TATATATA
others(6): Show 
TATATATATATATA
 4 a0001c0001t0003g0043
a0001c0001t0008g0089
a0001c0001t0011g0170
others(1): Show 
a0001c0001t0003g0043
a0001c0001t0008g0089
a0001c0001t0011g0170
a0001c0001t0022g0224
 4 HG02055.hp1
HG02132.hp2
HG02523.hp1
others(1): Show 
HG02055.hp1
HG02132.hp2
HG02523.hp1
NA18950.hp1
 intron_variant MODIFIER c.355+60836_355+6083
others(17): Show 
c.355+60836_355+60837insTATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727767
chr7:105727767 T
T
 TATATATA
others(62): Show 
TATATATATATATAATATATATATATATATATATATATATATATAATATA
TATATATATATATATATATA
 1 a0001c0001t0034g0068
a0001c0001t0034g0068
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.355+60836_355+6083
others(73): Show 
c.355+60836_355+60837insTATATATATATATATATATATATATT
ATATATATATATATATATATATATATATATTATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727767
chr7:105727767 T
T
 TATATATA
others(8): Show 
TATATATATATATATA
 9 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0002g0053
others(6): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0002g0053
a0001c0001t0002g0245
a0001c0001t0009g0141
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0008t0014g0165
a0006c0010t0031g0204
 9 HG01099.hp2
HG01516.hp2
HG01517.hp1
others(6): Show 
HG01099.hp2
HG01516.hp2
HG01517.hp1
HG03579.hp2
HG03831.hp1
HG04199.hp1
NA18948.hp2
NA19005.hp2
NA19074.hp1
 intron_variant MODIFIER c.355+60836_355+6083
others(19): Show 
c.355+60836_355+60837insTATATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727767
chr7:105727767 T
T
 TATATATA
others(10): Show 
TATATATATATATATATA
 1 a0001c0001t0008g0175
a0001c0001t0008g0175
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.355+60836_355+6083
others(21): Show 
c.355+60836_355+60837insTATATATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727767
chr7:105727767 T
T
 TATATATA
others(12): Show 
TATATATATATATATATATA
 2 a0001c0001t0004g0246
a0001c0001t0007g0057
a0001c0001t0004g0246
a0001c0001t0007g0057
 2 NA19003.hp1
NA19005.hp1
NA19003.hp1
NA19005.hp1
 intron_variant MODIFIER c.355+60836_355+6083
others(23): Show 
c.355+60836_355+60837insTATATATATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727767
chr7:105727767 T
T
 TATATATA
others(26): Show 
TATATATATATATATATATATATATATATATATA
 1 a0001c0001t0006g0022
a0001c0001t0006g0022
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.355+60836_355+6083
others(37): Show 
c.355+60836_355+60837insTATATATATATATATATATATATATA
TATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727767
chr7:105727769 T
T
 TATATATA
others(4): Show 
TATATATATATA
 1 a0001c0001t0019g0063
a0001c0001t0019g0063
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.355+60834_355+6083
others(15): Show 
c.355+60834_355+60835insTATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727769
chr7:105727773 TATATAC
TATATAC
 T
T
 4 a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0027g0134
others(1): Show 
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0027g0134
a0001c0001t0044g0110
 4 HG02965.hp1
HG03041.hp2
HG03130.hp2
others(1): Show 
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.355+60825_355+6083
others(10): Show 
c.355+60825_355+60830delGTATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727773
chr7:105727777 T
T
 C
C
 32 a0001c0001t0001g0033
a0001c0001t0001g0059
a0001c0001t0001g0088
others(29): Show 
a0001c0001t0001g0033
a0001c0001t0001g0059
a0001c0001t0001g0088
a0001c0001t0001g0145
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0006g0117
a0001c0001t0007g0217
a0001c0001t0010g0032
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0131
a0001c0001t0021g0184
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0032g0149
a0002c0002t0059g0200
 32 HG00642.hp2
HG00738.hp2
HG01074.hp1
others(29): Show 
HG00642.hp2
HG00738.hp2
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG01891.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp2
NA18970.hp2
NA18971.hp1
NA19066.hp1
NA19086.hp1
NA19087.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+60827A>G
c.355+60827A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727777
chr7:105727777 T
T
 TATACACA
others(3): Show 
TATACACACAC
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.355+60826_355+6082
others(14): Show 
c.355+60826_355+60827insGTGTGTGTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727777
chr7:105727777 T
T
 TATATATA
others(5): Show 
TATATATATACAC
 1 a0001c0001t0005g0126
a0001c0001t0005g0126
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.355+60826_355+6082
others(16): Show 
c.355+60826_355+60827insGTGTATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727777
chr7:105727777 T
T
 TATATATA
others(5): Show 
TATATATATATAC
 2 a0001c0001t0004g0219
a0001c0001t0010g0091
a0001c0001t0004g0219
a0001c0001t0010g0091
 2 HG00673.hp2
HG02723.hp1
HG00673.hp2
HG02723.hp1
 intron_variant MODIFIER c.355+60826_355+6082
others(16): Show 
c.355+60826_355+60827insGTATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727777
chr7:105727777 T
T
 TATATATA
others(7): Show 
TATATATATATACAC
 4 a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0006g0024
others(1): Show 
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0006g0024
a0001c0001t0024g0077
 4 HG00673.hp1
HG01168.hp1
HG02129.hp1
others(1): Show 
HG00673.hp1
HG01168.hp1
HG02129.hp1
HG04199.hp2
 intron_variant MODIFIER c.355+60826_355+6082
others(18): Show 
c.355+60826_355+60827insGTGTATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727777
chr7:105727777 T
T
 TATATATA
others(7): Show 
TATATATATATATAC
 10 a0001c0001t0002g0016
a0001c0001t0009g0097
a0001c0001t0012g0052
others(7): Show 
a0001c0001t0002g0016
a0001c0001t0009g0097
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0064g0098
a0001c0012t0003g0047
a0005c0011t0008g0092
 10 HG00735.hp2
HG01192.hp2
HG01256.hp1
others(7): Show 
HG00735.hp2
HG01192.hp2
HG01256.hp1
HG01346.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02735.hp1
HG03669.hp2
NA19054.hp2
 intron_variant MODIFIER c.355+60826_355+6082
others(18): Show 
c.355+60826_355+60827insGTATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727777
chr7:105727777 T
T
 TATATATA
others(9): Show 
TATATATATATATACAC
 3 a0001c0001t0002g0187
a0001c0001t0006g0197
a0001c0001t0008g0249
a0001c0001t0002g0187
a0001c0001t0006g0197
a0001c0001t0008g0249
 3 HG02559.hp2
NA18994.hp2
NA19074.hp2
HG02559.hp2
NA18994.hp2
NA19074.hp2
 intron_variant MODIFIER c.355+60826_355+6082
others(20): Show 
c.355+60826_355+60827insGTGTATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727777
chr7:105727777 T
T
 TATATATA
others(9): Show 
TATATATATATATATAC
 9 a0001c0001t0001g0174
a0001c0001t0003g0011
a0001c0001t0003g0235
others(6): Show 
a0001c0001t0001g0174
a0001c0001t0003g0011
a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0048g0132
a0001c0004t0010g0154
a0001c0006t0001g0112
 9 HG01167.hp2
HG01256.hp2
HG01258.hp2
others(6): Show 
HG01167.hp2
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG02083.hp1
HG02523.hp2
HG03490.hp2
HG03491.hp2
NA18943.hp1
 intron_variant MODIFIER c.355+60826_355+6082
others(20): Show 
c.355+60826_355+60827insGTATATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727777
chr7:105727777 T
T
 TATATATA
others(11): Show 
TATATATATATATATACAC
 4 a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0020g0120
others(1): Show 
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0020g0120
a0001c0001t0050g0155
 4 HG01192.hp1
HG01515.hp2
HG01517.hp2
others(1): Show 
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02602.hp2
 intron_variant MODIFIER c.355+60826_355+6082
others(22): Show 
c.355+60826_355+60827insGTGTATATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727777
chr7:105727777 T
T
 TATATATA
others(11): Show 
TATATATATATATATATAC
 4 a0001c0001t0001g0017
a0001c0001t0002g0186
a0001c0001t0003g0118
others(1): Show 
a0001c0001t0001g0017
a0001c0001t0002g0186
a0001c0001t0003g0118
a0001c0001t0009g0054
 4 HG01169.hp2
HG03688.hp2
NA18945.hp1
others(1): Show 
HG01169.hp2
HG03688.hp2
NA18945.hp1
NA18995.hp1
 intron_variant MODIFIER c.355+60826_355+6082
others(22): Show 
c.355+60826_355+60827insGTATATATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727777
chr7:105727777 T
T
 TATATATA
others(13): Show 
TATATATATATATATATACAC
 2 a0001c0001t0001g0074
a0001c0001t0014g0038
a0001c0001t0001g0074
a0001c0001t0014g0038
 2 HG03831.hp2
NA18957.hp2
HG03831.hp2
NA18957.hp2
 intron_variant MODIFIER c.355+60826_355+6082
others(24): Show 
c.355+60826_355+60827insGTGTATATATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727777
chr7:105727777 T
T
 TATATATA
others(65): Show 
TATATATATATATATATGTATATATATATATATATATATGTATATATATA
CATATATATATATATATATATAC
 1 a0001c0001t0060g0192
a0001c0001t0060g0192
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.355+60826_355+6082
others(76): Show 
c.355+60826_355+60827insGTATATATATATATATATATATGTAT
ATATATACATATATATATATATATATATACATATATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727777
chr7:105727779 C
C
 T
T
 66 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(63): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0019g0063
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 66 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(63): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01099.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+60825G>A
c.355+60825G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727779
chr7:105727781 C
C
 T
T
 2 a0001c0001t0001g0085
a0001c0001t0011g0101
a0001c0001t0001g0085
a0001c0001t0011g0101
 2 NA18945.hp2
NA18950.hp2
NA18945.hp2
NA18950.hp2
 intron_variant MODIFIER c.355+60823G>A
c.355+60823G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727781
chr7:105727787 T
T
 C
C
 3 a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0013g0156
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0013g0156
 3 HG02895.hp1
HG02895.hp2
NA20129.hp2
HG02895.hp1
HG02895.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+60817A>G
c.355+60817A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727787
chr7:105727882 T
T
 C
C
 1 a0001c0001t0034g0068
a0001c0001t0034g0068
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.355+60722A>G
c.355+60722A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105727882
chr7:105728117 G
G
 A
A
 1 a0001c0001t0017g0113
a0001c0001t0017g0113
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.355+60487C>T
c.355+60487C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105728117
chr7:105728291 C
C
 T
T
 2 a0001c0001t0003g0118
a0001c0001t0014g0123
a0001c0001t0003g0118
a0001c0001t0014g0123
 2 HG01167.hp2
HG01169.hp2
HG01167.hp2
HG01169.hp2
 intron_variant MODIFIER c.355+60313G>A
c.355+60313G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105728291
chr7:105728505 A
A
 G
G
 229 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(226): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 229 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(226): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+60099T>C
c.355+60099T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105728505
chr7:105728610 A
A
 G
G
 1 a0001c0001t0009g0054
a0001c0001t0009g0054
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.355+59994T>C
c.355+59994T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105728610
chr7:105728620 A
A
 C
C
 95 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(92): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
 95 HG00323.hp2
HG00642.hp1
HG00738.hp1
others(92): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+59984T>G
c.355+59984T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105728620
chr7:105728688 G
G
 A
A
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.355+59916C>T
c.355+59916C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105728688
chr7:105728689 T
T
 A
A
 168 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(165): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0006c0010t0031g0204
 168 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(165): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+59915A>T
c.355+59915A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105728689
chr7:105728961 G
G
 T
T
 30 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(27): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0005c0011t0008g0092
 30 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(27): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02735.hp1
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.355+59643C>A
c.355+59643C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105728961
chr7:105729073 G
G
 A
A
 1 a0001c0001t0002g0002
a0001c0001t0002g0002
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.355+59531C>T
c.355+59531C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729073
chr7:105729083 G
G
 A
A
 2 a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0008g0045
a0001c0001t0008g0249
 2 NA19074.hp2
NA19079.hp1
NA19074.hp2
NA19079.hp1
 intron_variant MODIFIER c.355+59521C>T
c.355+59521C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729083
chr7:105729277 A
A
 AAATG
AAATG
 54 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(51): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0014g0166
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
a0006c0010t0031g0204
 54 HG00558.hp1
HG01099.hp1
HG01099.hp2
others(51): Show 
HG00558.hp1
HG01099.hp1
HG01099.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03579.hp2
HG03831.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+59323_355+5932
others(8): Show 
c.355+59323_355+59326dupCATT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729277
chr7:105729301 G
G
 A
A
 2 a0001c0001t0007g0202
a0001c0001t0048g0132
a0001c0001t0007g0202
a0001c0001t0048g0132
 2 HG02523.hp2
HG02895.hp1
HG02523.hp2
HG02895.hp1
 intron_variant MODIFIER c.355+59303C>T
c.355+59303C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729301
chr7:105729301 G
G
 GAATA
GAATA
 14 a0001c0001t0001g0017
a0001c0001t0001g0085
a0001c0001t0001g0205
others(11): Show 
a0001c0001t0001g0017
a0001c0001t0001g0085
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0003g0118
a0001c0001t0005g0248
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0014g0123
a0001c0001t0027g0134
a0001c0001t0044g0110
 14 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(11): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG02280.hp2
HG02451.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03688.hp2
NA18945.hp2
NA18950.hp2
NA19060.hp1
 intron_variant MODIFIER c.355+59299_355+5930
others(8): Show 
c.355+59299_355+59302dupTATT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729301
chr7:105729301 G
G
 GAATAAAT
others(1): Show 
GAATAAATA
 12 a0001c0001t0001g0088
a0001c0001t0002g0016
a0001c0001t0002g0186
others(9): Show 
a0001c0001t0001g0088
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0013g0129
a0001c0001t0015g0109
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0050g0155
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0012t0003g0047
 12 HG01256.hp1
HG02135.hp2
HG02165.hp1
others(9): Show 
HG01256.hp1
HG02135.hp2
HG02165.hp1
HG02602.hp2
HG02622.hp2
HG02735.hp1
HG03490.hp2
HG03669.hp2
NA18943.hp1
NA18945.hp1
NA18970.hp2
NA19054.hp2
 intron_variant MODIFIER c.355+59295_355+5930
others(12): Show 
c.355+59295_355+59302dupTATTTATT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729301
chr7:105729301 G
G
 GAATAAAT
others(5): Show 
GAATAAATAAATA
 3 a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0006t0001g0112
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0006t0001g0112
 3 HG03491.hp2
NA18995.hp1
NA19043.hp2
HG03491.hp2
NA18995.hp1
NA19043.hp2
 intron_variant MODIFIER c.355+59291_355+5930
others(16): Show 
c.355+59291_355+59302dupTATTTATTTATT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729301
chr7:105729301 G
G
 GAATGAAT
others(1): Show 
GAATGAATA
 6 a0001c0001t0001g0033
a0001c0001t0002g0053
a0001c0001t0004g0039
others(3): Show 
a0001c0001t0001g0033
a0001c0001t0002g0053
a0001c0001t0004g0039
a0001c0001t0010g0032
a0001c0001t0011g0152
a0001c0001t0012g0115
 6 HG00558.hp2
HG01943.hp1
NA18971.hp1
others(3): Show 
HG00558.hp2
HG01943.hp1
NA18971.hp1
NA19005.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.355+59302_355+5930
others(12): Show 
c.355+59302_355+59303insTATTCATT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729301
chr7:105729301 G
G
 GAATGAAT
others(5): Show 
GAATGAATAAATA
 3 a0001c0001t0009g0097
a0001c0001t0016g0176
a0005c0011t0008g0092
a0001c0001t0009g0097
a0001c0001t0016g0176
a0005c0011t0008g0092
 3 HG01192.hp2
HG01346.hp1
HG02148.hp1
HG01192.hp2
HG01346.hp1
HG02148.hp1
 intron_variant MODIFIER c.355+59302_355+5930
others(16): Show 
c.355+59302_355+59303insTATTTATTCATT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729301
chr7:105729301 GAATA
GAATA
 G
G
 20 a0001c0001t0001g0074
a0001c0001t0001g0119
a0001c0001t0002g0002
others(17): Show 
a0001c0001t0001g0074
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0002g0239
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0024
a0001c0001t0006g0197
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 20 HG00673.hp1
HG01109.hp2
HG01167.hp1
others(17): Show 
HG00673.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02559.hp2
HG02895.hp2
HG03831.hp2
HG04199.hp2
NA18957.hp2
NA18994.hp2
 intron_variant MODIFIER c.355+59299_355+5930
others(8): Show 
c.355+59299_355+59302delTATT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729301
chr7:105729301 GAATAAAT
others(1): Show 
GAATAAATA
 G
G
 103 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(100): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
 103 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(100): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+59295_355+5930
others(12): Show 
c.355+59295_355+59302delTATTTATT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729301
chr7:105729301 GAATAAAT
others(5): Show 
GAATAAATAAATA
 G
G
 5 a0001c0001t0004g0219
a0001c0001t0016g0069
a0001c0001t0028g0114
others(2): Show 
a0001c0001t0004g0219
a0001c0001t0016g0069
a0001c0001t0028g0114
a0002c0002t0030g0212
a0007c0009t0007g0096
 5 HG02630.hp2
HG02723.hp1
HG03130.hp1
others(2): Show 
HG02630.hp2
HG02723.hp1
HG03130.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.355+59291_355+5930
others(16): Show 
c.355+59291_355+59302delTATTTATTTATT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729301
chr7:105729305 A
A
 G
G
 5 a0001c0001t0002g0173
a0001c0001t0006g0022
a0001c0001t0035g0151
others(2): Show 
a0001c0001t0002g0173
a0001c0001t0006g0022
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0063g0041
 5 HG02145.hp2
HG02165.hp2
HG02738.hp1
others(2): Show 
HG02145.hp2
HG02165.hp2
HG02738.hp1
NA19030.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+59299T>C
c.355+59299T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729305
chr7:105729309 A
A
 G
G
 15 a0001c0001t0001g0074
a0001c0001t0001g0119
a0001c0001t0002g0002
others(12): Show 
a0001c0001t0001g0074
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0024
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 15 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(12): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG03831.hp2
HG04199.hp2
NA18957.hp2
NA18994.hp2
 intron_variant MODIFIER c.355+59295T>C
c.355+59295T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729309
chr7:105729334 A
A
 C
C
 1 a0001c0001t0004g0198
a0001c0001t0004g0198
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.355+59270T>G
c.355+59270T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729334
chr7:105729430 CT
CT
 C
C
 151 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
others(148): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 151 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(148): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+59173delA
c.355+59173delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729430
chr7:105729430 CTT
CTT
 C
C
 61 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(58): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
 61 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(58): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+59172_355+5917
others(6): Show 
c.355+59172_355+59173delAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729430
chr7:105729458 C
C
 G
G
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+59146G>C
c.355+59146G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729458
chr7:105729545 C
C
 T
T
 60 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(57): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
 60 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(57): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01099.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+59059G>A
c.355+59059G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729545
chr7:105729575 C
C
 G
G
 229 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(226): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 229 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(226): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+59029G>C
c.355+59029G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729575
chr7:105729664 A
A
 C
C
 2 a0001c0001t0010g0093
a0001c0001t0049g0148
a0001c0001t0010g0093
a0001c0001t0049g0148
 2 HG01099.hp1
HG01978.hp2
HG01099.hp1
HG01978.hp2
 intron_variant MODIFIER c.355+58940T>G
c.355+58940T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729664
chr7:105729698 G
G
 T
T
 43 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(40): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0109
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0021g0227
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0044g0110
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0056g0210
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 43 HG00735.hp2
HG01167.hp2
HG01169.hp2
others(40): Show 
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.355+58906C>A
c.355+58906C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729698
chr7:105729699 G
G
 C
C
 1 a0001c0001t0006g0197
a0001c0001t0006g0197
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.355+58905C>G
c.355+58905C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729699
chr7:105729736 C
C
 CT
CT
 11 a0001c0001t0001g0082
a0001c0001t0001g0205
a0001c0001t0001g0222
others(8): Show 
a0001c0001t0001g0082
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0008g0175
a0001c0001t0012g0122
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0044g0110
a0001c0001t0064g0098
 11 HG01257.hp1
HG01258.hp1
HG02135.hp2
others(8): Show 
HG01257.hp1
HG01258.hp1
HG02135.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
NA19067.hp2
 intron_variant MODIFIER c.355+58867dupA
c.355+58867dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729736
chr7:105729736 CT
CT
 C
C
 100 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(97): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
 100 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(97): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01167.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+58867delA
c.355+58867delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729736
chr7:105729831 G
G
 A
A
 16 a0001c0001t0001g0074
a0001c0001t0001g0119
a0001c0001t0002g0002
others(13): Show 
a0001c0001t0001g0074
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0005g0126
a0001c0001t0006g0024
a0001c0001t0006g0197
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0024g0077
 16 HG00673.hp1
HG01109.hp2
HG01168.hp1
others(13): Show 
HG00673.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02559.hp2
HG03831.hp2
HG04199.hp2
NA18957.hp2
NA18994.hp2
 intron_variant MODIFIER c.355+58773C>T
c.355+58773C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729831
chr7:105729860 C
C
 T
T
 2 a0001c0001t0001g0003
a0001c0001t0009g0013
a0001c0001t0001g0003
a0001c0001t0009g0013
 2 HG02735.hp2
HG03239.hp2
HG02735.hp2
HG03239.hp2
 intron_variant MODIFIER c.355+58744G>A
c.355+58744G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105729860
chr7:105730057 G
G
 A
A
 1 a0001c0001t0001g0003
a0001c0001t0001g0003
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.355+58547C>T
c.355+58547C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105730057
chr7:105730088 T
T
 C
C
 103 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(100): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
 103 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(100): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+58516A>G
c.355+58516A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105730088
chr7:105730263 C
C
 T
T
 1 a0001c0001t0016g0136
a0001c0001t0016g0136
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.355+58341G>A
c.355+58341G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105730263
chr7:105730498 C
C
 T
T
 2 a0001c0001t0004g0246
a0001c0001t0007g0057
a0001c0001t0004g0246
a0001c0001t0007g0057
 2 NA19003.hp1
NA19005.hp1
NA19003.hp1
NA19005.hp1
 intron_variant MODIFIER c.355+58106G>A
c.355+58106G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105730498
chr7:105730499 G
G
 A
A
 2 a0001c0001t0007g0144
a0001c0001t0013g0156
a0001c0001t0007g0144
a0001c0001t0013g0156
 2 HG02895.hp2
NA20129.hp2
HG02895.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+58105C>T
c.355+58105C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105730499
chr7:105730769 C
C
 T
T
 1 a0001c0001t0061g0036
a0001c0001t0061g0036
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.355+57835G>A
c.355+57835G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105730769
chr7:105731096 G
G
 A
A
 9 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
others(6): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0044g0110
 9 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.355+57508C>T
c.355+57508C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731096
chr7:105731434 C
C
 CT
CT
 62 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(59): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0004c0013t0036g0107
a0006c0010t0031g0204
 62 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(59): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01099.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03579.hp2
HG03831.hp1
HG03942.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+57169dupA
c.355+57169dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731434
chr7:105731434 CT
CT
 C
C
 35 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(32): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0109
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 35 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(32): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01346.hp1
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG03130.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.355+57169delA
c.355+57169delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731434
chr7:105731615 T
T
 A
A
 9 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
others(6): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0044g0110
 9 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.355+56989A>T
c.355+56989A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731615
chr7:105731626 G
G
 A
A
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+56978C>T
c.355+56978C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731626
chr7:105731632 T
T
 C
C
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.355+56972A>G
c.355+56972A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731632
chr7:105731748 A
A
 AAAAAG
AAAAAG
 6 a0001c0001t0001g0059
a0001c0001t0001g0205
a0001c0001t0001g0222
others(3): Show 
a0001c0001t0001g0059
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0144
a0001c0001t0012g0122
a0001c0001t0018g0058
 6 HG00642.hp2
HG01257.hp1
HG02280.hp2
others(3): Show 
HG00642.hp2
HG01257.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+56851_355+5685
others(9): Show 
c.355+56851_355+56855dupCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(3): Show 
AAAAAGAAAAG
 7 a0001c0001t0008g0075
a0001c0001t0020g0169
a0001c0001t0027g0134
others(4): Show 
a0001c0001t0008g0075
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0044g0110
a0001c0004t0010g0154
a0005c0011t0008g0092
 7 HG01257.hp2
HG01258.hp1
HG02148.hp1
others(4): Show 
HG01257.hp2
HG01258.hp1
HG02148.hp1
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp2
 intron_variant MODIFIER c.355+56846_355+5685
others(14): Show 
c.355+56846_355+56855dupCTTTTCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(8): Show 
AAAAAGAAAAGAAAAG
 22 a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0174
others(19): Show 
a0001c0001t0001g0033
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0002
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0003g0118
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0007g0218
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0016g0176
a0001c0001t0024g0077
a0001c0006t0001g0112
 22 HG00673.hp1
HG00673.hp2
HG01167.hp2
others(19): Show 
HG00673.hp1
HG00673.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG02015.hp1
HG02083.hp1
HG02129.hp1
HG02723.hp1
HG03041.hp2
HG03491.hp2
NA18945.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA18995.hp1
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.355+56841_355+5685
others(19): Show 
c.355+56841_355+56855dupCTTTTCTTTTCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(13): Show 
AAAAAGAAAAGAAAAGAAAAG
 14 a0001c0001t0001g0017
a0001c0001t0003g0011
a0001c0001t0006g0024
others(11): Show 
a0001c0001t0001g0017
a0001c0001t0003g0011
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0015g0109
a0001c0001t0021g0227
a0001c0001t0056g0210
a0001c0001t0064g0098
a0001c0012t0003g0047
 14 HG00735.hp2
HG01256.hp1
HG02135.hp2
others(11): Show 
HG00735.hp2
HG01256.hp1
HG02135.hp2
HG02559.hp2
HG02622.hp2
HG02895.hp2
HG03225.hp2
HG03669.hp2
HG03688.hp2
HG04199.hp2
NA18943.hp1
NA18945.hp2
NA19043.hp2
NA19054.hp2
 intron_variant MODIFIER c.355+56836_355+5685
others(24): Show 
c.355+56836_355+56855dupCTTTTCTTTTCTTTTCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(18): Show 
AAAAAGAAAAGAAAAGAAAAGAAAAG
 7 a0001c0001t0001g0074
a0001c0001t0001g0085
a0001c0001t0002g0016
others(4): Show 
a0001c0001t0001g0074
a0001c0001t0001g0085
a0001c0001t0002g0016
a0001c0001t0019g0230
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0048g0132
 7 HG01109.hp2
HG02165.hp1
HG02523.hp2
others(4): Show 
HG01109.hp2
HG02165.hp1
HG02523.hp2
HG02735.hp1
NA18950.hp2
NA18957.hp2
NA19043.hp1
 intron_variant MODIFIER c.355+56831_355+5685
others(29): Show 
c.355+56831_355+56855dupCTTTTCTTTTCTTTTCTTTTCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(23): Show 
AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG
 1 a0001c0001t0050g0155
a0001c0001t0050g0155
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.355+56826_355+5685
others(34): Show 
c.355+56826_355+56855dupCTTTTCTTTTCTTTTCTTTTCTTTTC
TTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(28): Show 
AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG
 4 a0001c0001t0001g0119
a0001c0001t0016g0069
a0002c0002t0030g0212
others(1): Show 
a0001c0001t0001g0119
a0001c0001t0016g0069
a0002c0002t0030g0212
a0007c0009t0007g0096
 4 HG01168.hp1
HG02630.hp2
HG03130.hp1
others(1): Show 
HG01168.hp1
HG02630.hp2
HG03130.hp1
HG03471.hp2
 intron_variant MODIFIER c.355+56821_355+5685
others(39): Show 
c.355+56821_355+56855dupCTTTTCTTTTCTTTTCTTTTCTTTTC
TTTTCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(33): Show 
AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG
 3 a0001c0001t0004g0127
a0001c0001t0014g0038
a0001c0001t0020g0120
a0001c0001t0004g0127
a0001c0001t0014g0038
a0001c0001t0020g0120
 3 HG01192.hp1
HG03669.hp1
HG03831.hp2
HG01192.hp1
HG03669.hp1
HG03831.hp2
 intron_variant MODIFIER c.355+56816_355+5685
others(44): Show 
c.355+56816_355+56855dupCTTTTCTTTTCTTTTCTTTTCTTTTC
TTTTCTTTTCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(43): Show 
AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA
G
 2 a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0125
a0001c0001t0015g0140
 2 HG01515.hp2
HG01517.hp2
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.355+56806_355+5685
others(54): Show 
c.355+56806_355+56855dupCTTTTCTTTTCTTTTCTTTTCTTTTC
TTTTCTTTTCTTTTCTTTTCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(39): Show 
AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAGAAAGAAAAG
 1 a0001c0001t0006g0034
a0001c0001t0006g0034
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.355+56855_355+5685
others(50): Show 
c.355+56855_355+56856insCTTTTCTTTCTTTTCTCTTTTCTTTT
CTTTTCTTTTCTTTTCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(20): Show 
AAAAAGAAAAGAAAAGAAAAGAAAAGAG
 40 a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0181
others(37): Show 
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0181
a0001c0001t0002g0010
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0171
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0010g0111
a0001c0001t0014g0166
a0001c0001t0016g0136
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0034g0068
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0055g0252
a0002c0002t0022g0066
a0002c0002t0022g0220
 40 HG00558.hp1
HG00738.hp2
HG00741.hp2
others(37): Show 
HG00558.hp1
HG00738.hp2
HG00741.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01981.hp2
HG02027.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02132.hp2
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp2
NA18906.hp2
NA18943.hp2
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19030.hp2
NA19054.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.355+56855_355+5685
others(31): Show 
c.355+56855_355+56856insCTCTTTTCTTTTCTTTTCTTTTCTTT
T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(25): Show 
AAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAG
 36 a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
others(33): Show 
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0004g0128
a0001c0001t0004g0137
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0067
a0001c0001t0007g0217
a0001c0001t0009g0020
a0001c0001t0009g0146
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0019g0063
a0001c0001t0021g0184
a0001c0001t0045g0190
a0001c0001t0052g0133
a0001c0001t0057g0229
a0001c0007t0038g0158
a0002c0002t0030g0208
a0002c0002t0033g0221
a0002c0002t0059g0200
 36 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(33): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01891.hp2
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02071.hp1
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02559.hp1
HG02647.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18747.hp2
NA18989.hp2
NA19068.hp2
NA19087.hp2
NA19240.hp1
 intron_variant MODIFIER c.355+56855_355+5685
others(36): Show 
c.355+56855_355+56856insCTTTTCTCTTTTCTTTTCTTTTCTTT
TCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(30): Show 
AAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAGAAAAG
 20 a0001c0001t0001g0005
a0001c0001t0001g0145
a0001c0001t0001g0185
others(17): Show 
a0001c0001t0001g0005
a0001c0001t0001g0145
a0001c0001t0001g0185
a0001c0001t0002g0021
a0001c0001t0002g0056
a0001c0001t0002g0179
a0001c0001t0004g0203
a0001c0001t0006g0117
a0001c0001t0008g0015
a0001c0001t0009g0055
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0018g0131
a0001c0001t0042g0161
a0001c0001t0053g0031
a0001c0005t0007g0209
a0002c0002t0032g0226
a0006c0010t0031g0204
 20 HG01074.hp2
HG01884.hp2
HG01891.hp1
others(17): Show 
HG01074.hp2
HG01884.hp2
HG01891.hp1
HG02015.hp2
HG02451.hp1
HG02622.hp1
HG02896.hp1
HG03579.hp2
NA18747.hp1
NA18954.hp2
NA18962.hp2
NA18994.hp1
NA19000.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19066.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
 intron_variant MODIFIER c.355+56855_355+5685
others(41): Show 
c.355+56855_355+56856insCTTTTCTTTTCTCTTTTCTTTTCTTT
TCTTTTCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(35): Show 
AAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAGAAAAGAAAAG
 16 a0001c0001t0001g0163
a0001c0001t0001g0225
a0001c0001t0002g0049
others(13): Show 
a0001c0001t0001g0163
a0001c0001t0001g0225
a0001c0001t0002g0049
a0001c0001t0002g0153
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0135
a0001c0001t0011g0143
a0001c0001t0018g0046
a0001c0001t0039g0180
a0001c0001t0054g0087
a0001c0001t0062g0007
a0002c0002t0032g0149
 16 HG02027.hp2
HG02129.hp2
HG02818.hp2
others(13): Show 
HG02027.hp2
HG02129.hp2
HG02818.hp2
HG03098.hp1
HG03491.hp1
NA18522.hp2
NA18971.hp2
NA18995.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19056.hp1
NA19079.hp2
NA19087.hp1
NA19091.hp2
NA20300.hp2
 intron_variant MODIFIER c.355+56855_355+5685
others(46): Show 
c.355+56855_355+56856insCTTTTCTTTTCTTTTCTCTTTTCTTT
TCTTTTCTTTTCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(40): Show 
AAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAGAAAAGAAAAGAAAAG
 4 a0001c0001t0002g0142
a0001c0001t0004g0124
a0001c0001t0010g0228
others(1): Show 
a0001c0001t0002g0142
a0001c0001t0004g0124
a0001c0001t0010g0228
a0001c0001t0023g0247
 4 HG02135.hp1
HG03239.hp1
HG03540.hp1
others(1): Show 
HG02135.hp1
HG03239.hp1
HG03540.hp1
NA19088.hp2
 intron_variant MODIFIER c.355+56855_355+5685
others(51): Show 
c.355+56855_355+56856insCTTTTCTTTTCTTTTCTTTTCTCTTT
TCTTTTCTTTTCTTTTCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(29): Show 
AAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAGAAAG
 2 a0001c0001t0008g0249
a0001c0001t0026g0189
a0001c0001t0008g0249
a0001c0001t0026g0189
 2 HG01109.hp1
NA19074.hp2
HG01109.hp1
NA19074.hp2
 intron_variant MODIFIER c.355+56855_355+5685
others(40): Show 
c.355+56855_355+56856insCTTTCTTTTCTCTTTTCTTTTCTTTT
CTTTTCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAAAGAA
others(34): Show 
AAAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAGAAAGAAAAG
 1 a0001c0001t0008g0045
a0001c0001t0008g0045
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.355+56855_355+5685
others(45): Show 
c.355+56855_355+56856insCTTTTCTTTCTTTTCTCTTTTCTTTT
CTTTTCTTTTCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 A
A
 AAAGAGAA
others(30): Show 
AAAGAGAAAAGAAAAGAAAAGAAAAGAGAAAAGAAAAG
 1 a0001c0001t0006g0168
a0001c0001t0006g0168
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.355+56855_355+5685
others(41): Show 
c.355+56855_355+56856insCTTTTCTTTTCTCTTTTCTTTTCTTT
TCTTTTCTCTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731748 AAAAAG
AAAAAG
 A
A
 12 a0001c0001t0001g0082
a0001c0001t0004g0084
a0001c0001t0004g0198
others(9): Show 
a0001c0001t0001g0082
a0001c0001t0004g0084
a0001c0001t0004g0198
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0014g0083
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0033g0040
a0004c0013t0036g0107
 12 HG00280.hp1
HG00280.hp2
HG00735.hp1
others(9): Show 
HG00280.hp1
HG00280.hp2
HG00735.hp1
HG01069.hp2
HG01081.hp2
HG01167.hp1
HG01243.hp2
HG01515.hp1
HG01516.hp1
HG02148.hp2
HG02300.hp2
HG03490.hp1
 intron_variant MODIFIER c.355+56851_355+5685
others(9): Show 
c.355+56851_355+56855delCTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731748
chr7:105731749 A
A
 AAAAGAAA
others(24): Show 
AAAAGAAAAGAAAAGAAAAGAAAAGAGAAAAG
 9 a0001c0001t0005g0025
a0001c0001t0011g0012
a0001c0001t0013g0236
others(6): Show 
a0001c0001t0005g0025
a0001c0001t0011g0012
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0016g0061
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0037g0065
a0003c0003t0005g0079
 9 HG00738.hp1
HG01934.hp1
HG01952.hp1
others(6): Show 
HG00738.hp1
HG01934.hp1
HG01952.hp1
HG01978.hp1
HG02280.hp1
HG06807.hp2
NA18970.hp1
NA19067.hp1
NA20300.hp1
 intron_variant MODIFIER c.355+56854_355+5685
others(35): Show 
c.355+56854_355+56855insCTTTTCTCTTTTCTTTTCTTTTCTTT
TCTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731749
chr7:105731751 A
A
 AAGAAAAG
others(15): Show 
AAGAAAAGAAAAGAAAAGAAAAG
 31 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(28): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0002g0053
a0001c0001t0002g0245
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0001t0049g0148
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
 31 HG00558.hp2
HG01099.hp1
HG01099.hp2
others(28): Show 
HG00558.hp2
HG01099.hp1
HG01099.hp2
HG01516.hp2
HG01517.hp1
HG01978.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02145.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02735.hp2
HG03139.hp2
HG03209.hp2
HG03516.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19030.hp1
NA19056.hp2
NA19074.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+56831_355+5685
others(26): Show 
c.355+56831_355+56852dupCTTTTCTTTTCTTTTCTTTTCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731751
chr7:105731754 A
A
 AAAAGAAA
others(19): Show 
AAAAGAAAAGAAAAGAAAAGAGAAAAG
 1 a0001c0001t0002g0177
a0001c0001t0002g0177
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.355+56849_355+5685
others(30): Show 
c.355+56849_355+56850insCTTTTCTCTTTTCTTTTCTTTTCTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731754
chr7:105731756 A
A
 AAGAAAAG
others(10): Show 
AAGAAAAGAAAAGAAAAG
 2 a0001c0001t0012g0115
a0001c0001t0060g0192
a0001c0001t0012g0115
a0001c0001t0060g0192
 2 HG01943.hp1
HG02145.hp1
HG01943.hp1
HG02145.hp1
 intron_variant MODIFIER c.355+56831_355+5684
others(21): Show 
c.355+56831_355+56847dupCTTTTCTTTTCTTTTCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731756
chr7:105731761 A
A
 AAGAAAAG
others(5): Show 
AAGAAAAGAAAAG
 1 a0001c0001t0058g0018
a0001c0001t0058g0018
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.355+56831_355+5684
others(16): Show 
c.355+56831_355+56842dupCTTTTCTTTTCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731761
chr7:105731919 T
T
 C
C
 165 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(162): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0006c0010t0031g0204
 165 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(162): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+56685A>G
c.355+56685A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105731919
chr7:105732163 A
A
 G
G
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+56441T>C
c.355+56441T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105732163
chr7:105732526 T
T
 A
A
 1 a0001c0001t0005g0159
a0001c0001t0005g0159
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.355+56078A>T
c.355+56078A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105732526
chr7:105732600 T
T
 C
C
 98 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(95): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 98 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(95): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+56004A>G
c.355+56004A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105732600
chr7:105732653 T
T
 C
C
 230 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(227): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 230 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(227): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+55951A>G
c.355+55951A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105732653
chr7:105732752 T
T
 G
G
 1 a0001c0001t0011g0012
a0001c0001t0011g0012
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.355+55852A>C
c.355+55852A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105732752
chr7:105732847 A
A
 C
C
 2 a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0157
a0001c0001t0011g0164
 2 NA19003.hp2
NA19085.hp2
NA19003.hp2
NA19085.hp2
 intron_variant MODIFIER c.355+55757T>G
c.355+55757T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105732847
chr7:105732959 T
T
 C
C
 99 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(96): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 99 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(96): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+55645A>G
c.355+55645A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105732959
chr7:105732983 G
G
 T
T
 2 a0001c0001t0027g0134
a0001c0001t0044g0110
a0001c0001t0027g0134
a0001c0001t0044g0110
 2 HG02965.hp1
HG03139.hp1
HG02965.hp1
HG03139.hp1
 intron_variant MODIFIER c.355+55621C>A
c.355+55621C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105732983
chr7:105733120 A
A
 T
T
 1 a0001c0001t0003g0090
a0001c0001t0003g0090
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.355+55484T>A
c.355+55484T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733120
chr7:105733343 T
T
 A
A
 1 a0001c0001t0054g0087
a0001c0001t0054g0087
 1 NA18995.hp2
NA18995.hp2
 intron_variant MODIFIER c.355+55261A>T
c.355+55261A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733343
chr7:105733406 C
C
 T
T
 91 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(88): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 91 HG00323.hp2
HG00642.hp1
HG00738.hp2
others(88): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+55198G>A
c.355+55198G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733406
chr7:105733482 C
C
 CCATCCAT
others(113): Show 
CCATCCATCCACCCATCCATCCTTCCATCCATCCACCCATCCATCCATTC
ATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCATCCATTCAT
CCATCCACCCATCCATCCATT
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+55121_355+5512
others(124): Show 
c.355+55121_355+55122insAATGGATGGATGGGTGGATGGATGAA
TGGATGGATGGGTGGATGGATGAATGGATGGATGGGTGGATGGATGAATG
GATGGATGGGTGGATGGATGGAAGGATGGATGGGTGGATGGATG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733482
chr7:105733482 C
C
 CCATCCAT
others(137): Show 
CCATCCATCCACCCATCCATCCTTCCATCCATCCACCCATCCATCCATTC
ATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCATCCATTCAT
CCATCCACCCATCCATCCATTCATCCATCCACCCATCCATCCATT
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.355+55121_355+5512
others(148): Show 
c.355+55121_355+55122insAATGGATGGATGGGTGGATGGATGAA
TGGATGGATGGGTGGATGGATGAATGGATGGATGGGTGGATGGATGAATG
GATGGATGGGTGGATGGATGAATGGATGGATGGGTGGATGGATGGAAGGA
TGGATGGGTGGATGGATG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733482
chr7:105733491 C
C
 T
T
 8 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(5): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
 8 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(5): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
HG02145.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+55113G>A
c.355+55113G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733491
chr7:105733493 C
C
 CCCATCCA
others(9): Show 
CCCATCCATCCATCCAT
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.355+55110_355+5511
others(20): Show 
c.355+55110_355+55111insATGGATGGATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733493
chr7:105733504 T
T
 A
A
 159 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(156): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0006c0010t0031g0204
 159 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(156): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+55100A>T
c.355+55100A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733504
chr7:105733506 C
C
 T
T
 100 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(97): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 100 HG00323.hp1
HG00323.hp2
HG00642.hp1
others(97): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+55098G>A
c.355+55098G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733506
chr7:105733513 T
T
 TCCATCCA
others(13): Show 
TCCATCCATTCATCCATCCAC
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+55090_355+5509
others(24): Show 
c.355+55090_355+55091insGTGGATGGATGAATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733513
chr7:105733517 C
C
 CCCATCCA
others(33): Show 
CCCATCCATCCATTCATCCATCCACCCATCCATCCATCCTT
 83 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(80): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0032g0226
a0002c0002t0059g0200
 83 HG00323.hp2
HG00642.hp1
HG00738.hp2
others(80): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+55086_355+5508
others(44): Show 
c.355+55086_355+55087insAAGGATGGATGGATGGGTGGATGGAT
GAATGGATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733517
chr7:105733517 C
C
 T
T
 59 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(56): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 59 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(56): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02895.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+55087G>A
c.355+55087G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733517
chr7:105733521 T
T
 C
C
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+55083A>G
c.355+55083A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733521
chr7:105733521 T
T
 TCCATTCA
others(9): Show 
TCCATTCATCCATCCAC
 1 a0001c0001t0014g0166
a0001c0001t0014g0166
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.355+55082_355+5508
others(20): Show 
c.355+55082_355+55083insGTGGATGGATGAATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733521
chr7:105733525 T
T
 A
A
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+55079A>T
c.355+55079A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733525
chr7:105733529 T
T
 C
C
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+55075A>G
c.355+55075A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733529
chr7:105733530 C
C
 T
T
 62 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(59): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0167
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0150
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0010g0093
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0063g0041
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0033g0221
 62 HG00323.hp1
HG00558.hp2
HG00741.hp2
others(59): Show 
HG00323.hp1
HG00558.hp2
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03831.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18954.hp1
NA18957.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19087.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+55074G>A
c.355+55074G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733530
chr7:105733533 T
T
 C
C
 84 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(81): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0032g0226
a0002c0002t0059g0200
 84 HG00323.hp2
HG00642.hp1
HG00738.hp2
others(81): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+55071A>G
c.355+55071A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733533
chr7:105733534 C
C
 T
T
 10 a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0003g0043
others(7): Show 
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0008g0089
a0001c0001t0009g0141
a0001c0001t0011g0170
a0001c0001t0015g0019
a0001c0008t0014g0165
a0002c0002t0022g0220
 10 HG00558.hp1
HG02132.hp2
HG02165.hp2
others(7): Show 
HG00558.hp1
HG02132.hp2
HG02165.hp2
HG02523.hp1
HG02723.hp2
HG03942.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA19074.hp1
 intron_variant MODIFIER c.355+55070G>A
c.355+55070G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733534
chr7:105733541 C
C
 CCCATCCA
others(9): Show 
CCCATCCATCCATCCTT
 2 a0002c0002t0030g0208
a0002c0002t0033g0221
a0002c0002t0030g0208
a0002c0002t0033g0221
 2 HG02896.hp2
HG03540.hp2
HG02896.hp2
HG03540.hp2
 intron_variant MODIFIER c.355+55062_355+5506
others(20): Show 
c.355+55062_355+55063insAAGGATGGATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733541
chr7:105733541 C
C
 T
T
 14 a0001c0001t0001g0181
a0001c0001t0002g0160
a0001c0001t0002g0173
others(11): Show 
a0001c0001t0001g0181
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0008g0089
a0001c0001t0009g0141
a0001c0001t0011g0170
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 14 HG00558.hp1
HG01515.hp1
HG01981.hp2
others(11): Show 
HG00558.hp1
HG01515.hp1
HG01981.hp2
HG02132.hp2
HG02165.hp2
HG02523.hp1
HG02723.hp2
HG02818.hp1
HG03579.hp2
HG03942.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA19074.hp1
 intron_variant MODIFIER c.355+55063G>A
c.355+55063G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733541
chr7:105733545 T
T
 C
C
 10 a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0003g0043
others(7): Show 
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0008g0089
a0001c0001t0009g0141
a0001c0001t0011g0170
a0001c0001t0015g0019
a0001c0008t0014g0165
a0002c0002t0022g0220
 10 HG00558.hp1
HG02132.hp2
HG02165.hp2
others(7): Show 
HG00558.hp1
HG02132.hp2
HG02165.hp2
HG02523.hp1
HG02723.hp2
HG03942.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA19074.hp1
 intron_variant MODIFIER c.355+55059A>G
c.355+55059A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733545
chr7:105733545 T
T
 TCCATCCA
others(81): Show 
TCCATCCATCCATCCATCCACCCATCCACCCATCCATCCATTCATCCATC
CACCCATCCATCCATCCACCCATCCATCCACCCAACCAC
 1 a0001c0001t0013g0243
a0001c0001t0013g0243
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.355+55058_355+5505
others(92): Show 
c.355+55058_355+55059insGTGGTTGGGTGGATGGATGGGTGGAT
GGATGGATGGGTGGATGGATGAATGGATGGATGGGTGGATGGGTGGATGG
ATGGATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733545
chr7:105733546 C
C
 CCATCCAT
others(1): Show 
CCATCCATT
 8 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(5): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
 8 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(5): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
HG02145.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+55057_355+5505
others(12): Show 
c.355+55057_355+55058insAATGGATG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733546
chr7:105733553 T
T
 TCCATCCA
others(121): Show 
TCCATCCATCCATCCATCCACCCATCCATCCATCCATCCATCCACCCATC
CATCCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCA
ACCACCCATCCTTCCATCCATCCACCCAA
 2 a0001c0001t0010g0093
a0001c0001t0049g0148
a0001c0001t0010g0093
a0001c0001t0049g0148
 2 HG01099.hp1
HG01978.hp2
HG01099.hp1
HG01978.hp2
 intron_variant MODIFIER c.355+55050_355+5505
others(132): Show 
c.355+55050_355+55051insTTGGGTGGATGGATGGAAGGATGGGT
GGTTGGGTGGATGGATGGAAGGATGGATGGATGGGTGGATGGATGAATGG
ATGGATGGGTGGATGGATGGATGGATGGATGGGTGGATGGATGGATGGAT
GG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733553
chr7:105733553 TCCAC
TCCAC
 T
T
 42 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0080
others(39): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0167
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0011g0152
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0058g0018
a0001c0001t0063g0041
 42 HG00558.hp2
HG01261.hp2
HG01433.hp2
others(39): Show 
HG00558.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02145.hp2
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02735.hp2
HG02738.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03831.hp1
HG04199.hp1
NA18906.hp1
NA18943.hp2
NA18954.hp1
NA18957.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+55047_355+5505
others(8): Show 
c.355+55047_355+55050delGTGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733553
chr7:105733556 A
A
 T
T
 6 a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0004g0124
others(3): Show 
a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0006g0117
a0001c0001t0010g0228
a0002c0002t0032g0149
 6 HG02451.hp1
HG02818.hp2
HG02896.hp1
others(3): Show 
HG02451.hp1
HG02818.hp2
HG02896.hp1
HG03239.hp1
HG03540.hp1
NA19087.hp1
 intron_variant MODIFIER c.355+55048T>A
c.355+55048T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733556
chr7:105733557 C
C
 T
T
 18 a0001c0001t0001g0044
a0001c0001t0001g0145
a0001c0001t0002g0160
others(15): Show 
a0001c0001t0001g0044
a0001c0001t0001g0145
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0211
a0001c0001t0006g0117
a0001c0001t0008g0089
a0001c0001t0009g0141
a0001c0001t0010g0228
a0001c0001t0011g0170
a0001c0001t0015g0019
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0032g0149
 18 HG00558.hp1
HG02132.hp2
HG02165.hp2
others(15): Show 
HG00558.hp1
HG02132.hp2
HG02165.hp2
HG02451.hp1
HG02523.hp1
HG02723.hp2
HG02818.hp2
HG02896.hp1
HG03239.hp1
HG03540.hp1
HG03942.hp1
NA18522.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA19056.hp2
NA19074.hp1
NA19087.hp1
 intron_variant MODIFIER c.355+55047G>A
c.355+55047G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733557
chr7:105733560 A
A
 C
C
 1 a0001c0001t0013g0243
a0001c0001t0013g0243
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.355+55044T>G
c.355+55044T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733560
chr7:105733565 T
T
 C
C
 2 a0002c0002t0030g0208
a0002c0002t0033g0221
a0002c0002t0030g0208
a0002c0002t0033g0221
 2 HG02896.hp2
HG03540.hp2
HG02896.hp2
HG03540.hp2
 intron_variant MODIFIER c.355+55039A>G
c.355+55039A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733565
chr7:105733568 T
T
 A
A
 76 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(73): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0033g0221
a0006c0010t0031g0204
 76 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(73): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02451.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+55036A>T
c.355+55036A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733568
chr7:105733568 T
T
 G
G
 1 a0001c0001t0013g0243
a0001c0001t0013g0243
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.355+55036A>C
c.355+55036A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733568
chr7:105733570 C
C
 T
T
 9 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0007g0202
others(6): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0007g0202
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
 9 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(6): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
HG02145.hp1
HG02895.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+55034G>A
c.355+55034G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733570
chr7:105733573 T
T
 C
C
 6 a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0004g0124
others(3): Show 
a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0006g0117
a0001c0001t0010g0228
a0002c0002t0032g0149
 6 HG02451.hp1
HG02818.hp2
HG02896.hp1
others(3): Show 
HG02451.hp1
HG02818.hp2
HG02896.hp1
HG03239.hp1
HG03540.hp1
NA19087.hp1
 intron_variant MODIFIER c.355+55031A>G
c.355+55031A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733573
chr7:105733577 T
T
 C
C
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 NA19056.hp2
NA19056.hp2
 intron_variant MODIFIER c.355+55027A>G
c.355+55027A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733577
chr7:105733581 C
C
 CCCAT
CCCAT
 6 a0001c0001t0003g0118
a0001c0001t0014g0123
a0001c0001t0016g0069
others(3): Show 
a0001c0001t0003g0118
a0001c0001t0014g0123
a0001c0001t0016g0069
a0001c0001t0028g0114
a0002c0002t0030g0212
a0007c0009t0007g0096
 6 HG01167.hp2
HG01169.hp2
HG02630.hp2
others(3): Show 
HG01167.hp2
HG01169.hp2
HG02630.hp2
HG03130.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.355+55019_355+5502
others(8): Show 
c.355+55019_355+55022dupATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733581
chr7:105733581 C
C
 T
T
 4 a0001c0001t0001g0044
a0001c0001t0010g0093
a0001c0001t0019g0062
others(1): Show 
a0001c0001t0001g0044
a0001c0001t0010g0093
a0001c0001t0019g0062
a0001c0001t0049g0148
 4 HG00741.hp2
HG01099.hp1
HG01978.hp2
others(1): Show 
HG00741.hp2
HG01099.hp1
HG01978.hp2
NA19056.hp2
 intron_variant MODIFIER c.355+55023G>A
c.355+55023G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733581
chr7:105733592 A
A
 T
T
 2 a0002c0002t0030g0208
a0002c0002t0033g0221
a0002c0002t0030g0208
a0002c0002t0033g0221
 2 HG02896.hp2
HG03540.hp2
HG02896.hp2
HG03540.hp2
 intron_variant MODIFIER c.355+55012T>A
c.355+55012T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733592
chr7:105733594 C
C
 T
T
 11 a0001c0001t0001g0181
a0001c0001t0003g0150
a0001c0001t0005g0182
others(8): Show 
a0001c0001t0001g0181
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0014g0166
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0006c0010t0031g0204
 11 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(8): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
HG01981.hp2
HG02145.hp1
HG02818.hp1
HG03579.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+55010G>A
c.355+55010G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733594
chr7:105733596 A
A
 ACCCATCC
others(5): Show 
ACCCATCCATCCT
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.355+55007_355+5500
others(16): Show 
c.355+55007_355+55008insAGGATGGATGGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733596
chr7:105733596 A
A
 T
T
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+55008T>A
c.355+55008T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733596
chr7:105733597 T
T
 C
C
 6 a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0006g0117
others(3): Show 
a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0006g0117
a0001c0001t0010g0228
a0001c0001t0013g0243
a0002c0002t0032g0149
 6 HG01515.hp1
HG02451.hp1
HG02818.hp2
others(3): Show 
HG01515.hp1
HG02451.hp1
HG02818.hp2
HG02896.hp1
HG03540.hp1
NA19087.hp1
 intron_variant MODIFIER c.355+55007A>G
c.355+55007A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733597
chr7:105733601 T
T
 TCCATCCA
others(5): Show 
TCCATCCACCCAA
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+55002_355+5500
others(16): Show 
c.355+55002_355+55003insTTGGGTGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733601
chr7:105733605 C
C
 CCCAT
CCCAT
 20 a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
others(17): Show 
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0002
a0001c0001t0003g0011
a0001c0001t0004g0039
a0001c0001t0007g0144
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0016g0176
a0001c0001t0027g0008
a0001c0001t0048g0132
a0001c0001t0064g0098
a0001c0006t0001g0112
a0005c0011t0008g0092
 20 HG00673.hp2
HG00735.hp2
HG01192.hp2
others(17): Show 
HG00673.hp2
HG00735.hp2
HG01192.hp2
HG01346.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp2
HG02148.hp1
HG02523.hp2
HG03139.hp2
HG03491.hp2
HG03669.hp2
NA18943.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA19066.hp1
NA19086.hp1
NA20129.hp2
 intron_variant MODIFIER c.355+54995_355+5499
others(8): Show 
c.355+54995_355+54998dupATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733605
chr7:105733605 C
C
 T
T
 7 a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0004g0124
others(4): Show 
a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0219
a0001c0001t0006g0117
a0001c0001t0010g0228
a0002c0002t0032g0149
 7 HG02451.hp1
HG02723.hp1
HG02818.hp2
others(4): Show 
HG02451.hp1
HG02723.hp1
HG02818.hp2
HG02896.hp1
HG03239.hp1
HG03540.hp1
NA19087.hp1
 intron_variant MODIFIER c.355+54999G>A
c.355+54999G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733605
chr7:105733608 A
A
 T
T
 5 a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0006g0117
others(2): Show 
a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0006g0117
a0001c0001t0010g0228
a0002c0002t0032g0149
 5 HG02451.hp1
HG02818.hp2
HG02896.hp1
others(2): Show 
HG02451.hp1
HG02818.hp2
HG02896.hp1
HG03540.hp1
NA19087.hp1
 intron_variant MODIFIER c.355+54996T>A
c.355+54996T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733608
chr7:105733609 T
T
 C
C
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.355+54995A>G
c.355+54995A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733609
chr7:105733609 T
T
 TCCATCCA
others(149): Show 
TCCATCCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACC
CAACCACCCATCCTTCCATCCATCCACCCAACCACCCATCCATCCATCCA
TCCATCCATCCATCCATCCATCCATCCACCCATCCATTCATCCATCCACC
CATCCAC
 1 a0001c0001t0012g0064
a0001c0001t0012g0064
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.355+54994_355+5499
others(160): Show 
c.355+54994_355+54995insGTGGATGGGTGGATGGATGAATGGAT
GGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGTGG
TTGGGTGGATGGATGGAAGGATGGGTGGTTGGGTGGATGGATGGAAGGAT
GGATGGATGGGTGGATGGATGAATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733609
chr7:105733610 C
C
 T
T
 1 a0001c0001t0013g0243
a0001c0001t0013g0243
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.355+54994G>A
c.355+54994G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733610
chr7:105733612 A
A
 ATTCATCC
others(49): Show 
ATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACCAC
CCATCCT
 8 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(5): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
 8 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(5): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
HG02145.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+54991_355+5499
others(60): Show 
c.355+54991_355+54992insAGGATGGGTGGTTGGGTGGATGGATG
GAAGGATGGATGGATGGGTGGATGGATGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733612
chr7:105733612 A
A
 T
T
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+54992T>A
c.355+54992T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733612
chr7:105733617 T
T
 TCCTTCCA
others(113): Show 
TCCTTCCATCCATCCACCCAACCACCCATCCTTCCATCCATCCACCCAAC
CACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCA
TCCATCCATTCATCCATCCAC
 1 a0001c0001t0014g0166
a0001c0001t0014g0166
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.355+54986_355+5498
others(124): Show 
c.355+54986_355+54987insGTGGATGGATGAATGGATGGATGGGT
GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGTGGTTGG
GTGGATGGATGGAAGGATGGGTGGTTGGGTGGATGGATGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733617
chr7:105733617 T
T
 TCCTTCCA
others(113): Show 
TCCTTCCATCCATCCACCCAACCACCCATCCTTCCATCCATCCACCCAAC
CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCA
TCCATCCATTCATCCATCCAC
 2 a0001c0001t0001g0181
a0006c0010t0031g0204
a0001c0001t0001g0181
a0006c0010t0031g0204
 2 HG02818.hp1
HG03579.hp2
HG02818.hp1
HG03579.hp2
 intron_variant MODIFIER c.355+54986_355+5498
others(124): Show 
c.355+54986_355+54987insGTGGATGGATGAATGGATGGATGGGT
GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGG
GTGGATGGATGGAAGGATGGGTGGTTGGGTGGATGGATGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733617
chr7:105733617 T
T
 TTCATCCA
others(5): Show 
TTCATCCATCCAC
 2 a0001c0001t0010g0093
a0001c0001t0049g0148
a0001c0001t0010g0093
a0001c0001t0049g0148
 2 HG01099.hp1
HG01978.hp2
HG01099.hp1
HG01978.hp2
 intron_variant MODIFIER c.355+54986_355+5498
others(16): Show 
c.355+54986_355+54987insGTGGATGGATGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733617
chr7:105733617 T
T
 TTCATCCA
others(137): Show 
TTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACCACC
CATCCTTCCATCCATCCACCCAACCACCCATCCATCCATCCATCCATCCA
TCCATCCATCCATCCATCCACCCATCCATCCATTCATCCATCCAC
 48 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(45): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0141
a0001c0001t0011g0152
a0001c0001t0012g0115
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
 48 HG00558.hp1
HG00558.hp2
HG01261.hp2
others(45): Show 
HG00558.hp1
HG00558.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG02055.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18948.hp2
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+54986_355+5498
others(148): Show 
c.355+54986_355+54987insGTGGATGGATGAATGGATGGATGGGT
GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGTGGTTGG
GTGGATGGATGGAAGGATGGGTGGTTGGGTGGATGGATGGAAGGATGGAT
GGATGGGTGGATGGATGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733617
chr7:105733617 T
T
 TTCATCCA
others(141): Show 
TTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACCACC
CATCCTTCCATCCATCCACCCAACCACCCATCCATCCATCCATCCATCCA
TCCATCCATCCATCCATCCATCCACCCATCCATCCATTCATCCATCCAC
 4 a0001c0001t0006g0001
a0001c0001t0009g0103
a0001c0001t0029g0215
others(1): Show 
a0001c0001t0006g0001
a0001c0001t0009g0103
a0001c0001t0029g0215
a0001c0001t0034g0068
 4 HG02056.hp2
HG02572.hp1
NA18943.hp2
others(1): Show 
HG02056.hp2
HG02572.hp1
NA18943.hp2
NA19030.hp1
 intron_variant MODIFIER c.355+54986_355+5498
others(152): Show 
c.355+54986_355+54987insGTGGATGGATGAATGGATGGATGGGT
GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGTGG
TTGGGTGGATGGATGGAAGGATGGGTGGTTGGGTGGATGGATGGAAGGAT
GGATGGATGGGTGGATGGATGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733617
chr7:105733617 T
T
 TTCATCCA
others(145): Show 
TTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACCACC
CATCCTTCCATCCATCCACCCAACCACCCATCCATCCATCCATCCATCCA
TCCATCCATCCATCCATCCATCCATCCACCCATCCATCCATTCATCCATC
CAC
 1 a0001c0001t0011g0170
a0001c0001t0011g0170
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.355+54986_355+5498
others(156): Show 
c.355+54986_355+54987insGTGGATGGATGAATGGATGGATGGGT
GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG
GTGGTTGGGTGGATGGATGGAAGGATGGGTGGTTGGGTGGATGGATGGAA
GGATGGATGGATGGGTGGATGGATGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733617
chr7:105733621 T
T
 C
C
 6 a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0006g0117
others(3): Show 
a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0006g0117
a0001c0001t0010g0228
a0001c0001t0013g0243
a0002c0002t0032g0149
 6 HG01515.hp1
HG02451.hp1
HG02818.hp2
others(3): Show 
HG01515.hp1
HG02451.hp1
HG02818.hp2
HG02896.hp1
HG03540.hp1
NA19087.hp1
 intron_variant MODIFIER c.355+54983A>G
c.355+54983A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733621
chr7:105733622 C
C
 T
T
 1 a0001c0001t0012g0064
a0001c0001t0012g0064
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.355+54982G>A
c.355+54982G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733622
chr7:105733625 T
T
 C
C
 9 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0007g0202
others(6): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0007g0202
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
 9 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(6): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
HG02145.hp1
HG02895.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+54979A>G
c.355+54979A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733625
chr7:105733625 T
T
 TCCATCCA
others(153): Show 
TCCATCCATCCATCCATCCATCCACCCATCCATCCATTCATCCATCCACC
CATCCATCCATCCACCCATCCATCCACCCAACCACCCATCCATCCACCCC
TCCATCCGTCCATCCATCCACCCATCCATCCATCCACCCATCCACCCATT
CATCCATCCAC
 1 a0001c0001t0002g0186
a0001c0001t0002g0186
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.355+54978_355+5497
others(164): Show 
c.355+54978_355+54979insGTGGATGGATGAATGGGTGGATGGGT
GGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGATGG
GTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGAAT
GGATGGATGGGTGGATGGATGGATGGATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733625
chr7:105733629 T
T
 A
A
 9 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0007g0202
others(6): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0007g0202
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
 9 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(6): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
HG02145.hp1
HG02895.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+54975A>T
c.355+54975A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733629
chr7:105733629 T
T
 TCCATCCA
others(157): Show 
TCCATCCACCCATCCATCCATCCACCCATCCACCCATCCATCCATTCATC
CATCCACCCATCCATCCACCCATCCATCCACCCAACCACCCATCCATCCA
CCCCTCCATCCGTCCATCCATCCACCCATCCATCCATCCACCCATCCACC
CATTCATCCATCCAC
 3 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0029g0072
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0029g0072
 3 HG00642.hp1
HG01081.hp1
HG02738.hp2
HG00642.hp1
HG01081.hp1
HG02738.hp2
 intron_variant MODIFIER c.355+54974_355+5497
others(168): Show 
c.355+54974_355+54975insGTGGATGGATGAATGGGTGGATGGGT
GGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGATGG
GTGGTTGGGTGGATGGATGGGTGGATGGATGGGTGGATGGATGAATGGAT
GGATGGGTGGATGGGTGGATGGATGGATGGGTGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733629
chr7:105733629 T
T
 TCCATCCA
others(161): Show 
TCCATCCACCCATCCATCCATCCACCCATCCACCCATCCATCCATTCATC
CATCCACCCATCCATCCATCCACCCATCCATCCACCCAACCACCCATCCA
TCCACCCCTCCATCCGTCCATCCATCCACCCATCCATCCATCCACCCATC
CACCCATTCATCCATCCAC
 70 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(67): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0109
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0032g0226
a0002c0002t0059g0200
 70 HG00323.hp2
HG00738.hp2
HG00741.hp1
others(67): Show 
HG00323.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18954.hp2
NA18962.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+54974_355+5497
others(172): Show 
c.355+54974_355+54975insGTGGATGGATGAATGGGTGGATGGGT
GGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGATGG
GTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGAAT
GGATGGATGGGTGGATGGGTGGATGGATGGATGGGTGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733629
chr7:105733629 T
T
 TCCATCCA
others(161): Show 
TCCATCCACCCATCCATCCATCCACCCATCCACCCATCCATCCATTCATC
CATCCACCCATCCATCCATCCACCCATCCATCCACCCAACCACCCGTCCA
TCCACCCCTCCATCCGTCCATCCATCCACCCATCCATCCATCCACCCATC
CACCCATTCATCCATCCAC
 10 a0001c0001t0002g0177
a0001c0001t0005g0025
a0001c0001t0006g0034
others(7): Show 
a0001c0001t0002g0177
a0001c0001t0005g0025
a0001c0001t0006g0034
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0011g0012
a0001c0001t0013g0251
a0001c0001t0016g0061
a0001c0001t0018g0094
a0001c0001t0019g0178
 10 HG01934.hp1
HG01952.hp1
HG01978.hp1
others(7): Show 
HG01934.hp1
HG01952.hp1
HG01978.hp1
NA18948.hp1
NA18970.hp1
NA19060.hp2
NA19067.hp1
NA19074.hp2
NA19079.hp1
NA20300.hp1
 intron_variant MODIFIER c.355+54974_355+5497
others(172): Show 
c.355+54974_355+54975insGTGGATGGATGAATGGGTGGATGGGT
GGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGACGG
GTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGAAT
GGATGGATGGGTGGATGGGTGGATGGATGGATGGGTGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733629
chr7:105733633 C
C
 T
T
 135 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
others(132): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0044g0110
a0001c0001t0047g0121
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0062g0007
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0007c0009t0007g0096
 135 HG00323.hp2
HG00642.hp1
HG00673.hp1
others(132): Show 
HG00323.hp2
HG00642.hp1
HG00673.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+54971G>A
c.355+54971G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733633
chr7:105733637 T
T
 C
C
 38 a0001c0001t0001g0017
a0001c0001t0001g0074
a0001c0001t0001g0082
others(35): Show 
a0001c0001t0001g0017
a0001c0001t0001g0074
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0016
a0001c0001t0002g0187
a0001c0001t0003g0118
a0001c0001t0003g0235
a0001c0001t0004g0127
a0001c0001t0005g0126
a0001c0001t0006g0024
a0001c0001t0006g0197
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0018g0058
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0050g0155
a0001c0001t0056g0210
a0001c0004t0010g0154
a0002c0002t0030g0212
a0003c0003t0005g0079
a0007c0009t0007g0096
 38 HG00673.hp1
HG00738.hp1
HG01109.hp1
others(35): Show 
HG00673.hp1
HG00738.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02165.hp1
HG02280.hp1
HG02300.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02735.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp2
HG04199.hp2
HG06807.hp2
NA18957.hp2
NA18994.hp2
NA19043.hp1
 intron_variant MODIFIER c.355+54967A>G
c.355+54967A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733637
chr7:105733645 T
T
 C
C
 5 a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0006g0117
others(2): Show 
a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0006g0117
a0001c0001t0010g0228
a0002c0002t0032g0149
 5 HG02451.hp1
HG02818.hp2
HG02896.hp1
others(2): Show 
HG02451.hp1
HG02818.hp2
HG02896.hp1
HG03540.hp1
NA19087.hp1
 intron_variant MODIFIER c.355+54959A>G
c.355+54959A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733645
chr7:105733646 C
C
 T
T
 59 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(56): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 59 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(56): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+54958G>A
c.355+54958G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733646
chr7:105733649 T
T
 C
C
 4 a0001c0001t0008g0075
a0001c0001t0016g0069
a0001c0001t0027g0134
others(1): Show 
a0001c0001t0008g0075
a0001c0001t0016g0069
a0001c0001t0027g0134
a0001c0001t0044g0110
 4 HG02965.hp1
HG03130.hp1
HG03130.hp2
others(1): Show 
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.355+54955A>G
c.355+54955A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733649
chr7:105733653 T
T
 C
C
 1 a0001c0001t0007g0218
a0001c0001t0007g0218
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.355+54951A>G
c.355+54951A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733653
chr7:105733654 C
C
 CCACCCAT
others(169): Show 
CCACCCATCCACCCATCCATCCATTCATCCATCCACCCATCCATCCATCC
ACCCATCCATCCACCCAACCACCCATCCATCCACCCCTCCATCCGTCCAT
CCATCCACCCATCCATCCATCCACCCATCCACCCATTCATCCATCCACCC
ATCCATCCATCCATCCATCCATCCATT
 2 a0001c0001t0009g0054
a0001c0012t0003g0047
a0001c0001t0009g0054
a0001c0012t0003g0047
 2 NA18995.hp1
NA19054.hp2
NA18995.hp1
NA19054.hp2
 intron_variant MODIFIER c.355+54949_355+5495
others(180): Show 
c.355+54949_355+54950insAATGGATGGATGGATGGATGGATGGA
TGGGTGGATGGATGAATGGGTGGATGGGTGGATGGATGGATGGGTGGATG
GATGGACGGATGGAGGGGTGGATGGATGGGTGGTTGGGTGGATGGATGGG
TGGATGGATGGATGGGTGGATGGATGAATGGATGGATGGGTGGATGGGTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733654
chr7:105733654 C
C
 CCATCCAT
others(177): Show 
CCATCCATCCACCCATCCACCCATCCATCCATTCATCCATCCACCCATCC
ATCCATCCACCCATCCATCCACCCAACCACCCATCCATCCACCCCTCCAT
CCGTCCATCCATCCACCCATCCATCCATCCACCCATCCACCCATTCATCC
ATCCACCCATCCATCCATCCATCCATCCATCCATT
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.355+54949_355+5495
others(188): Show 
c.355+54949_355+54950insAATGGATGGATGGATGGATGGATGGA
TGGGTGGATGGATGAATGGGTGGATGGGTGGATGGATGGATGGGTGGATG
GATGGACGGATGGAGGGGTGGATGGATGGGTGGTTGGGTGGATGGATGGG
TGGATGGATGGATGGGTGGATGGATGAATGGATGGATGGGTGGATGGGTG
GATGGATG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733654
chr7:105733654 C
C
 T
T
 85 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(82): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0032g0226
a0002c0002t0059g0200
 85 HG00323.hp2
HG00642.hp1
HG00738.hp2
others(82): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+54950G>A
c.355+54950G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733654
chr7:105733657 T
T
 C
C
 59 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(56): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 59 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(56): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+54947A>G
c.355+54947A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733657
chr7:105733665 T
T
 C
C
 150 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(147): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0006c0010t0031g0204
 150 HG00323.hp2
HG00558.hp1
HG00558.hp2
others(147): Show 
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+54939A>G
c.355+54939A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733665
chr7:105733665 T
T
 TCCATCCA
others(189): Show 
TCCATCCATCCACCCATCCACCCATCCATCCATTCATCCATCCACCCATC
CATCCATCCACCCATCCATCCACCCAACCACCCATCCATCCACCCCTCCA
TCCGTCCATCCATCCACCCATCCATCCATCCACCCATCCACCCATTCATC
CATCCACCCATCCATCCATCCATCCATCCATCCATTCATCCATCCAC
 7 a0001c0001t0002g0239
a0001c0001t0004g0084
a0001c0001t0004g0198
others(4): Show 
a0001c0001t0002g0239
a0001c0001t0004g0084
a0001c0001t0004g0198
a0001c0001t0012g0244
a0001c0001t0017g0195
a0001c0001t0026g0234
a0001c0001t0033g0040
 7 HG00735.hp1
HG01069.hp2
HG01081.hp2
others(4): Show 
HG00735.hp1
HG01069.hp2
HG01081.hp2
HG01243.hp2
HG01433.hp1
HG02148.hp2
HG03209.hp1
 intron_variant MODIFIER c.355+54938_355+5493
others(200): Show 
c.355+54938_355+54939insGTGGATGGATGAATGGATGGATGGAT
GGATGGATGGATGGGTGGATGGATGAATGGGTGGATGGGTGGATGGATGG
ATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGATGGGTGGTTGGGT
GGATGGATGGGTGGATGGATGGATGGGTGGATGGATGAATGGATGGATGG
GTGGATGGGTGGATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733665
chr7:105733673 T
T
 C
C
 2 a0001c0001t0007g0144
a0005c0011t0008g0092
a0001c0001t0007g0144
a0005c0011t0008g0092
 2 HG02148.hp1
NA20129.hp2
HG02148.hp1
NA20129.hp2
 intron_variant MODIFIER c.355+54931A>G
c.355+54931A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733673
chr7:105733674 C
C
 CTATG
CTATG
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0060g0192
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01884.hp1
HG01891.hp2
HG02145.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+54929_355+5493
others(8): Show 
c.355+54929_355+54930insCATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733674
chr7:105733676 A
A
 T
T
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0060g0192
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01884.hp1
HG01891.hp2
HG02145.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+54928T>A
c.355+54928T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733676
chr7:105733678 C
C
 CCATCCAC
others(195): Show 
CCATCCACATCCACCCATCCATCCATTCATCCATCCACCCATCCATCCAT
CCACCCATCCATCCACCCAACCACCCATCCATCCACCCCTCCATCCGTCC
ATCCATCCACCCATCCATCCATCCACCCATCCACCCATTCATCCATCCAC
CCATCCATCCATCCATCCATCCATCCATTCATCCATCCACCCATCCATCC
ATT
 1 a0001c0001t0014g0083
a0001c0001t0014g0083
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.355+54925_355+5492
others(206): Show 
c.355+54925_355+54926insAATGGATGGATGGGTGGATGGATGAA
TGGATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGGATG
GGTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGA
TGGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATG
AATGGATGGATGGGTGGATGTGGATG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733678
chr7:105733678 C
C
 CCATCCAC
others(197): Show 
CCATCCACCCATCCACCCATCCATCCATTCATCCATCCACCCATCCATCC
ATCCACCCATCCATCCACCCAACCACCCATCCATCCACCCCTCCATCCGT
CCATCCATCCACCCATCCATCCATCCACCCATCCACCCATTCATCCATCC
ACCCATCCATCCATCCATCCATCCATCCATTCATCCATCCACCCATCCAT
CCATT
 4 a0001c0001t0001g0085
a0001c0001t0010g0051
a0001c0001t0015g0060
others(1): Show 
a0001c0001t0001g0085
a0001c0001t0010g0051
a0001c0001t0015g0060
a0003c0003t0020g0199
 4 HG01175.hp1
HG01358.hp1
HG03942.hp2
others(1): Show 
HG01175.hp1
HG01358.hp1
HG03942.hp2
NA18950.hp2
 intron_variant MODIFIER c.355+54925_355+5492
others(208): Show 
c.355+54925_355+54926insAATGGATGGATGGGTGGATGGATGAA
TGGATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGGATG
GGTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGA
TGGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATG
AATGGATGGATGGGTGGATGGGTGGATG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733678
chr7:105733678 C
C
 CCATCCAT
others(205): Show 
CCATCCATCCATCCACCCATCCACCCATCCATCCATTCATCCATCCACCC
ATCCATCCATCCACCCATCCATCCACCCAACCACCCATCCATCCACCCCT
CCATCCGTCCATCCATCCACCCATCCATCCATCCACCCATCCACCCATTC
ATCCATCCACCCATCCATCCATCCATCCATCCATCCATTCATCCATCCAC
CCATCCATCCATT
 3 a0001c0001t0008g0075
a0001c0001t0027g0134
a0001c0001t0044g0110
a0001c0001t0008g0075
a0001c0001t0027g0134
a0001c0001t0044g0110
 3 HG02965.hp1
HG03130.hp2
HG03139.hp1
HG02965.hp1
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.355+54925_355+5492
others(216): Show 
c.355+54925_355+54926insAATGGATGGATGGGTGGATGGATGAA
TGGATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGGATG
GGTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGA
TGGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATG
AATGGATGGATGGGTGGATGGGTGGATGGATGGATG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733678
chr7:105733678 C
C
 CCATCCAT
others(209): Show 
CCATCCATCCATCCATCCACCCATCCACCCATCCATCCATTCATCCATCC
ACCCATCCATCCATCCACCCATCCATCCACCCAACCACCCATCCATCCAC
CCCTCCATCCGTCCATCCATCCACCCATCCATCCATCCACCCATCCACCC
ATTCATCCATCCACCCATCCATCCATCCATCCATCCATCCATTCATCCAT
CCACCCATCCATCCATT
 1 a0001c0001t0007g0218
a0001c0001t0007g0218
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.355+54925_355+5492
others(220): Show 
c.355+54925_355+54926insAATGGATGGATGGGTGGATGGATGAA
TGGATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGGATG
GGTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGA
TGGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATG
AATGGATGGATGGGTGGATGGGTGGATGGATGGATGGATG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733678
chr7:105733678 C
C
 T
T
 154 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(151): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0234
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0226
a0002c0002t0059g0200
a0006c0010t0031g0204
 154 HG00323.hp2
HG00558.hp1
HG00558.hp2
others(151): Show 
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+54926G>A
c.355+54926G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733678
chr7:105733681 C
C
 CCCATCCA
others(193): Show 
CCCATCCACCCATCCATCCATTCATCCATCCACCCATCCATCCATCCACC
CATCCATCCACCCAACCACCCATCCATCCACCCCTCCATCCGTCCATCCA
TCCACCCATCCATCCATCCACCCATCCACCCATTCATCCATCCACCCATC
CATCCATCCATCCATCCATCCATTCATCCATCCACCCATCCATCCATTCA
T
 67 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0059
others(64): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0187
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0127
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0008g0073
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0227
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0056g0210
a0001c0001t0061g0036
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0002c0002t0030g0212
a0003c0003t0005g0079
a0004c0013t0036g0107
a0007c0009t0007g0096
 67 HG00280.hp1
HG00642.hp2
HG00673.hp2
others(64): Show 
HG00280.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG02015.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG03130.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG04199.hp2
HG06807.hp2
NA18943.hp1
NA18945.hp2
NA18957.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19043.hp1
NA19043.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.355+54922_355+5492
others(204): Show 
c.355+54922_355+54923insATGAATGGATGGATGGGTGGATGGAT
GAATGGATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGG
ATGGGTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGAT
GGATGGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGG
ATGAATGGATGGATGGGTGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733681
chr7:105733681 C
C
 CCCATCCA
others(189): Show 
CCCATCCACCCATCCATCCATTCATCCATCCACCCATCCATCCATCCACC
CATCCATCCACCCAACCACCCATCCATCCACCCCTCCATCCGTCCATCCA
TCCACCCATCCATCCATCCACCCATCCACCCATTCATCCATCCACCCATC
CATCCATCCATCCATCCATTCATCCATCCACCCATCCATCCATTCAT
 2 a0002c0002t0030g0208
a0002c0002t0033g0221
a0002c0002t0030g0208
a0002c0002t0033g0221
 2 HG02896.hp2
HG03540.hp2
HG02896.hp2
HG03540.hp2
 intron_variant MODIFIER c.355+54922_355+5492
others(200): Show 
c.355+54922_355+54923insATGAATGGATGGATGGGTGGATGGAT
GAATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGGATGG
GTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGAT
GGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGA
ATGGATGGATGGGTGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733681
chr7:105733681 C
C
 CCCATCCA
others(205): Show 
CCCATCCATCCATCCACCCATCCACCCATCCATCCATTCATCCATCCACC
CATCCATCCATCCACCCATCCATCCACCCAACCACCCATCCATCCACCCC
TCCATCCGTCCATCCATCCACCCATCCATCCATCCACCCATCCACCCATT
CATCCATCCACCCATCCATCCATCCATCCATCCATTCATCCATCCACCCA
TCCATCCATTCAT
 5 a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0006g0117
others(2): Show 
a0001c0001t0001g0145
a0001c0001t0004g0023
a0001c0001t0006g0117
a0001c0001t0010g0228
a0002c0002t0032g0149
 5 HG02451.hp1
HG02818.hp2
HG02896.hp1
others(2): Show 
HG02451.hp1
HG02818.hp2
HG02896.hp1
HG03540.hp1
NA19087.hp1
 intron_variant MODIFIER c.355+54922_355+5492
others(216): Show 
c.355+54922_355+54923insATGAATGGATGGATGGGTGGATGGAT
GAATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGGATGG
GTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGAT
GGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATGA
ATGGATGGATGGGTGGATGGGTGGATGGATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733681
chr7:105733681 C
C
 CCCATCCA
others(185): Show 
CCCATCCATCCATTCATCCATCCACCCATCCATCCATCCACCCATCCATC
CACCCAACCACCCATCCATCCACCCCTCCATCCGTCCATCCATCCACCCA
TCCATCCATCCACCCATCCACCCATTCATCCATCCACCCATCCATCCATC
CATCCATCCATCCATTCATCCATCCACCCATCCATCCATTCAT
 3 a0001c0001t0007g0144
a0001c0001t0024g0077
a0005c0011t0008g0092
a0001c0001t0007g0144
a0001c0001t0024g0077
a0005c0011t0008g0092
 3 HG00673.hp1
HG02148.hp1
NA20129.hp2
HG00673.hp1
HG02148.hp1
NA20129.hp2
 intron_variant MODIFIER c.355+54922_355+5492
others(196): Show 
c.355+54922_355+54923insATGAATGGATGGATGGGTGGATGGAT
GAATGGATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGG
ATGGGTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGAT
GGATGGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGG
ATGAATGGATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733681
chr7:105733681 C
C
 T
T
 172 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(169): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0020g0199
a0006c0010t0031g0204
 172 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(169): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+54923G>A
c.355+54923G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733681
chr7:105733708 A
A
 ATCCACCC
others(257): Show 
ATCCACCCATCCATCCATCCACCCATCCATCCACCCAACCACCCATCCAT
CCACCCCTCCATCCGTCCATCCATCCACCCATCCATCCATCCACCCATCC
ACCCATTCATCCATCCACCCATCCATCCATCCATCCATCCATCCATTCAT
CCATCCACCCATCCATCCATTCATCCATCCACCCATCCATCCATTCATCC
ATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACCACCCATCCAT
CCACCCCTCCATCCG
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.355+54895_355+5489
others(268): Show 
c.355+54895_355+54896insCGGATGGAGGGGTGGATGGATGGGTG
GTTGGGTGGATGGATGGAAGGATGGATGGATGGGTGGATGGATGAATGGA
TGGATGGGTGGATGGATGAATGGATGGATGGGTGGATGGATGAATGGATG
GATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGGATGGGTGGA
TGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGATGGGTG
GTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733708
chr7:105733728 T
T
 A
A
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.355+54876A>T
c.355+54876A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733728
chr7:105733729 T
T
 C
C
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.355+54875A>G
c.355+54875A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733729
chr7:105733753 T
T
 TCCTTCCA
others(41): Show 
TCCTTCCATCCATCCACCCAACCACCCATCCATCCATCCATCCATCCAC
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+54850_355+5485
others(52): Show 
c.355+54850_355+54851insGTGGATGGATGGATGGATGGATGGGT
GGTTGGGTGGATGGATGGAAGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733753
chr7:105733761 C
C
 T
T
 60 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(57): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 60 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(57): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+54843G>A
c.355+54843G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733761
chr7:105733764 C
C
 A
A
 60 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(57): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 60 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(57): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+54840G>T
c.355+54840G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733764
chr7:105733766 C
C
 CCACCCAA
others(147): Show 
CCACCCAACCACCCATCCACCCATCCATCCATCCATCTATGCTTCCATCC
ATCCACCCATCCACCCACCCATCCATCCATCCATCATCCATCATCCATCC
ATCCATCATCCATCATCCATCCATCCATCATCCATCATCCATCCATCCAT
CCATT
 59 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(56): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 59 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(56): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+54837_355+5483
others(158): Show 
c.355+54837_355+54838insAATGGATGGATGGATGGATGATGGAT
GATGGATGGATGGATGATGGATGATGGATGGATGGATGATGGATGATGGA
TGGATGGATGGGTGGGTGGATGGGTGGATGGATGGAAGCATAGATGGATG
GATGGATGGGTGGATGGGTGGTTGGGTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733766
chr7:105733766 C
C
 T
T
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+54838G>A
c.355+54838G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733766
chr7:105733772 G
G
 A
A
 60 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(57): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 60 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(57): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+54832C>T
c.355+54832C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733772
chr7:105733772 G
G
 GTCCACCC
others(201): Show 
GTCCACCCATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCAT
CCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACC
ACCCATCCTTCCATCCATCCACCCAACCACCCACCCATCCATCCATCCAT
CCATCCATCCATCCATCCATCTATGCTTCCATCCATCCACCCATCCATCC
ATTCATCCA
 2 a0001c0001t0021g0130
a0001c0001t0055g0252
a0001c0001t0021g0130
a0001c0001t0055g0252
 2 HG01884.hp1
NA19240.hp2
HG01884.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+54831_355+5483
others(212): Show 
c.355+54831_355+54832insTGGATGAATGGATGGATGGGTGGATG
GATGGAAGCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGG
TGGGTGGTTGGGTGGATGGATGGAAGGATGGGTGGTTGGGTGGATGGATG
GAAGGATGGATGGATGGGTGGATGGATGAATGGATGGATGGGTGGATGGA
TGAATGGATGGATGGGTGGATGGATGGGTGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733772
chr7:105733772 G
G
 GTCCACCC
others(217): Show 
GTCCACCCATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCAT
CCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACC
ACCCATCCTTCCATCCATCCACCCAACCACCCATCCATCCATCCATCCAT
CCATCCATCCATCCATCCATCCATCCATCCATCCATCTATGCTTCCATCC
ATCCACCCATCCATCCATTCATCCA
 2 a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0005g0182
a0001c0001t0019g0062
 2 HG00323.hp1
HG00741.hp2
HG00323.hp1
HG00741.hp2
 intron_variant MODIFIER c.355+54831_355+5483
others(228): Show 
c.355+54831_355+54832insTGGATGAATGGATGGATGGGTGGATG
GATGGAAGCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGA
TGGATGGATGGATGGATGGGTGGTTGGGTGGATGGATGGAAGGATGGGTG
GTTGGGTGGATGGATGGAAGGATGGATGGATGGGTGGATGGATGAATGGA
TGGATGGGTGGATGGATGAATGGATGGATGGGTGGATGGATGGGTGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733772
chr7:105733772 G
G
 GTCCACCC
others(213): Show 
GTCCACCCATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCAT
CCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACC
ACCCATCCTTCCATCCATCCACCCAACCACCCATCCATCCATCCATCCAT
CCATCCATCCATCCATCCATCCATCCATCCATCTATGCTTCCATCCATCC
ACCCATCCATCCATTCATCCA
 1 a0001c0001t0003g0150
a0001c0001t0003g0150
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.355+54831_355+5483
others(224): Show 
c.355+54831_355+54832insTGGATGAATGGATGGATGGGTGGATG
GATGGAAGCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGA
TGGATGGATGGATGGGTGGTTGGGTGGATGGATGGAAGGATGGGTGGTTG
GGTGGATGGATGGAAGGATGGATGGATGGGTGGATGGATGAATGGATGGA
TGGGTGGATGGATGAATGGATGGATGGGTGGATGGATGGGTGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733772
chr7:105733772 G
G
 GTCCACCC
others(209): Show 
GTCCACCCATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCAT
CCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACC
ACCCATCCTTCCATCCATCCACCCAACCACCCATCCATCCATCCATCCAT
CCATCCATCCATCCATCCATCCATCCATCTATGCTTCCATCCATCCACCC
ATCCATCCATTCATCCA
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.355+54831_355+5483
others(220): Show 
c.355+54831_355+54832insTGGATGAATGGATGGATGGGTGGATG
GATGGAAGCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGA
TGGATGGATGGGTGGTTGGGTGGATGGATGGAAGGATGGGTGGTTGGGTG
GATGGATGGAAGGATGGATGGATGGGTGGATGGATGAATGGATGGATGGG
TGGATGGATGAATGGATGGATGGGTGGATGGATGGGTGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733772
chr7:105733772 G
G
 GTCCACCC
others(205): Show 
GTCCACCCATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCAT
CCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACC
ACCCATCCTTCCATCCATCCACCCAACCACCCATCCATCCATCCATCCAT
CCATCCATCCATCCATCCATCCATCTATGCTTCCATCCATCCACCCATCC
ATCCATTCATCCA
 1 a0001c0001t0060g0192
a0001c0001t0060g0192
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.355+54831_355+5483
others(216): Show 
c.355+54831_355+54832insTGGATGAATGGATGGATGGGTGGATG
GATGGAAGCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGA
TGGATGGGTGGTTGGGTGGATGGATGGAAGGATGGGTGGTTGGGTGGATG
GATGGAAGGATGGATGGATGGGTGGATGGATGAATGGATGGATGGGTGGA
TGGATGAATGGATGGATGGGTGGATGGATGGGTGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733772
chr7:105733772 G
G
 GTCCACCC
others(209): Show 
GTCCACCCATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCAT
CCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACC
ACCCATCCTTCCATCCATCCACCCAACCATCCATCCATCCATCCATCCAT
CCATCCATCCATCCATCCATCCATCCATCTATGCTTCCATCCATCCACCC
ATCCATCCATTCATCCA
 1 a0001c0001t0057g0229
a0001c0001t0057g0229
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.355+54831_355+5483
others(220): Show 
c.355+54831_355+54832insTGGATGAATGGATGGATGGGTGGATG
GATGGAAGCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGA
TGGATGGATGGATGGTTGGGTGGATGGATGGAAGGATGGGTGGTTGGGTG
GATGGATGGAAGGATGGATGGATGGGTGGATGGATGAATGGATGGATGGG
TGGATGGATGAATGGATGGATGGGTGGATGGATGGGTGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733772
chr7:105733772 G
G
 GTCCATCC
others(125): Show 
GTCCATCCATCCACCCATCCATCCATCCACCCATCCACCCATTCATCCAT
CCACCCATCCATCCATCCATCCATCCATTCATCCATCCACCCATCCATCC
ATTCATCCATCCACCCATCCATCCATTCATCCA
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.355+54831_355+5483
others(136): Show 
c.355+54831_355+54832insTGGATGAATGGATGGATGGGTGGATG
GATGAATGGATGGATGGGTGGATGGATGAATGGATGGATGGATGGATGGA
TGGGTGGATGGATGAATGGGTGGATGGGTGGATGGATGGATGGGTGGATG
GATGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733772
chr7:105733777 C
C
 T
T
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.355+54827G>A
c.355+54827G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733777
chr7:105733841 C
C
 CCCAT
CCCAT
 21 a0001c0001t0001g0205
a0001c0001t0002g0239
a0001c0001t0004g0084
others(18): Show 
a0001c0001t0001g0205
a0001c0001t0002g0239
a0001c0001t0004g0084
a0001c0001t0004g0198
a0001c0001t0007g0144
a0001c0001t0010g0051
a0001c0001t0012g0232
a0001c0001t0013g0243
a0001c0001t0014g0083
a0001c0001t0015g0060
a0001c0001t0015g0193
a0001c0001t0017g0195
a0001c0001t0018g0058
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0033g0040
a0001c0001t0056g0210
a0001c0001t0061g0036
a0003c0003t0020g0199
a0004c0013t0036g0107
 21 HG00280.hp1
HG00280.hp2
HG00735.hp1
others(18): Show 
HG00280.hp1
HG00280.hp2
HG00735.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01358.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG02148.hp2
HG02451.hp2
HG02572.hp2
HG03209.hp1
HG03225.hp2
HG03490.hp1
HG03942.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+54759_355+5476
others(8): Show 
c.355+54759_355+54762dupATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733841
chr7:105733841 C
C
 CCCATCCA
others(72): Show 
CCCATCCATCCATCCATCCATCCATCCATCCATCATCCATCATCCATCCA
TCCATCATCCATCATCCATCCATCCATCAT
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.355+54762_355+5476
others(83): Show 
c.355+54762_355+54763insATGATGGATGGATGGATGATGGATGA
TGGATGGATGGATGATGGATGATGGATGGATGGATGGATGGATGGATGGA
TGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733841
chr7:105733841 C
C
 CCCATCCA
others(76): Show 
CCCATCCATCCATCCATCCATCCATCCATCCATCATCCATCATCCATCCA
TCCATCATCCATCATCCATCCATCCATCATCCAT
 1 a0001c0001t0010g0091
a0001c0001t0010g0091
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.355+54762_355+5476
others(87): Show 
c.355+54762_355+54763insATGGATGATGGATGGATGGATGATGG
ATGATGGATGGATGGATGATGGATGATGGATGGATGGATGGATGGATGGA
TGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733841
chr7:105733841 C
C
 CCCATCCA
others(76): Show 
CCCATCCATCCATCCATCCATCCATCCATCCATCCATCATCCATCATCCA
TCCATCCATCATCCATCATCCATCCATCCATCAT
 21 a0001c0001t0001g0017
a0001c0001t0001g0085
a0001c0001t0002g0016
others(18): Show 
a0001c0001t0001g0017
a0001c0001t0001g0085
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0010g0032
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0021g0227
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
 21 HG00735.hp2
HG01167.hp2
HG01169.hp2
others(18): Show 
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG02135.hp2
HG02165.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02735.hp1
HG03139.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.355+54762_355+5476
others(87): Show 
c.355+54762_355+54763insATGATGGATGGATGGATGATGGATGA
TGGATGGATGGATGATGGATGATGGATGGATGGATGGATGGATGGATGGA
TGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733841
chr7:105733841 C
C
 CCCATCCA
others(80): Show 
CCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCATCCATCA
TCCATCCATCCATCATCCATCATCCATCCATCCATCAT
 6 a0001c0001t0001g0088
a0001c0001t0006g0116
a0001c0001t0009g0054
others(3): Show 
a0001c0001t0001g0088
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0016g0176
a0005c0011t0008g0092
 6 HG01192.hp2
HG01346.hp1
HG02148.hp1
others(3): Show 
HG01192.hp2
HG01346.hp1
HG02148.hp1
NA18970.hp2
NA18995.hp1
NA19043.hp2
 intron_variant MODIFIER c.355+54676_355+5476
others(91): Show 
c.355+54676_355+54762dupATGATGGATGGATGGATGATGGATGA
TGGATGGATGGATGATGGATGATGGATGGATGGATGGATGGATGGATGGA
TGGATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733841
chr7:105733841 C
C
 T
T
 5 a0001c0001t0004g0219
a0001c0001t0016g0069
a0001c0001t0028g0114
others(2): Show 
a0001c0001t0004g0219
a0001c0001t0016g0069
a0001c0001t0028g0114
a0002c0002t0030g0212
a0007c0009t0007g0096
 5 HG02630.hp2
HG02723.hp1
HG03130.hp1
others(2): Show 
HG02630.hp2
HG02723.hp1
HG03130.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.355+54763G>A
c.355+54763G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733841
chr7:105733841 CCCAT
CCCAT
 C
C
 86 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(83): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0032g0149
a0002c0002t0059g0200
 86 HG00323.hp2
HG00642.hp1
HG00738.hp2
others(83): Show 
HG00323.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+54759_355+5476
others(8): Show 
c.355+54759_355+54762delATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733841
chr7:105733842 C
C
 CCATCCAT
others(72): Show 
CCATCCATCCATCCATCCATCCATCCATCCATCCATCATCCATCATCCAT
CCATCCATCATCCATCATCCATCCATCCAT
 5 a0001c0001t0001g0033
a0001c0001t0016g0069
a0001c0001t0028g0114
others(2): Show 
a0001c0001t0001g0033
a0001c0001t0016g0069
a0001c0001t0028g0114
a0002c0002t0030g0212
a0007c0009t0007g0096
 5 HG02630.hp2
HG03130.hp1
HG03471.hp2
others(2): Show 
HG02630.hp2
HG03130.hp1
HG03471.hp2
NA18971.hp1
NA19043.hp1
 intron_variant MODIFIER c.355+54761_355+5476
others(83): Show 
c.355+54761_355+54762insATGGATGGATGGATGATGGATGATGG
ATGGATGGATGATGGATGATGGATGGATGGATGGATGGATGGATGGATGG
ATG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733842
chr7:105733842 C
C
 CCATCCAT
others(76): Show 
CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCATCCATCAT
CCATCCATCCATCATCCATCATCCATCCATCCAT
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.355+54679_355+5476
others(87): Show 
c.355+54679_355+54761dupATGGATGGATGGATGATGGATGATGG
ATGGATGGATGATGGATGATGGATGGATGGATGGATGGATGGATGGATGG
ATGGATG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733842
chr7:105733846 C
C
 CCATCCAT
others(68): Show 
CCATCCATCCATCCATCCATCCATCCATCCATCATCCATCATCCATCCAT
CCATCATCCATCATCCATCCATCCAT
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.355+54757_355+5475
others(79): Show 
c.355+54757_355+54758insATGGATGGATGGATGATGGATGATGG
ATGGATGGATGATGGATGATGGATGGATGGATGGATGGATGGATGGATG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733846
chr7:105733856 A
A
 T
T
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.355+54748T>A
c.355+54748T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733856
chr7:105733861 T
T
 TCCATCCA
others(49): Show 
TCCATCCATCCATCCATCCATCCATCTATGCTTCCATCCATCCACCCATC
CACCCAC
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.355+54742_355+5474
others(60): Show 
c.355+54742_355+54743insGTGGGTGGATGGGTGGATGGATGGAA
GCATAGATGGATGGATGGATGGATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733861
chr7:105733861 T
T
 TCCATCCA
others(45): Show 
TCCATCCATCCATCCATCCATCTATGCTTCCATCCATCCACCCATCCACC
CAC
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG02145.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+54742_355+5474
others(56): Show 
c.355+54742_355+54743insGTGGGTGGATGGGTGGATGGATGGAA
GCATAGATGGATGGATGGATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733861
chr7:105733864 A
A
 ATCCACCC
others(29): Show 
ATCCACCCAACCACCCATCCATCCACCCCTCCATCCG
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.355+54739_355+5474
others(40): Show 
c.355+54739_355+54740insCGGATGGAGGGGTGGATGGATGGGTG
GTTGGGTGGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733864
chr7:105733865 T
T
 TCCATCCA
others(41): Show 
TCCATCCATCCATCCATCCATGCTTCCATCCATCCACCCATCCACCCAC
 1 a0001c0001t0007g0223
a0001c0001t0007g0223
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.355+54738_355+5473
others(52): Show 
c.355+54738_355+54739insGTGGGTGGATGGGTGGATGGATGGAA
GCATGGATGGATGGATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733865
chr7:105733865 T
T
 TCCATCCA
others(41): Show 
TCCATCCATCCATCCATCTATGCTTCCATCCATCCACCCATCCACCCAC
 6 a0001c0001t0001g0185
a0001c0001t0003g0050
a0001c0001t0009g0103
others(3): Show 
a0001c0001t0001g0185
a0001c0001t0003g0050
a0001c0001t0009g0103
a0001c0001t0017g0113
a0001c0001t0034g0068
a0001c0001t0042g0161
 6 HG02572.hp1
HG03209.hp2
NA18943.hp2
others(3): Show 
HG02572.hp1
HG03209.hp2
NA18943.hp2
NA19009.hp2
NA19010.hp1
NA19068.hp1
 intron_variant MODIFIER c.355+54738_355+5473
others(52): Show 
c.355+54738_355+54739insGTGGGTGGATGGGTGGATGGATGGAA
GCATAGATGGATGGATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733865
chr7:105733865 T
T
 TCCATCCA
others(37): Show 
TCCATCCATCCATCTATGCTTCCATCCATCCACCCATCCACCCAC
 52 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(49): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 52 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(49): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+54738_355+5473
others(48): Show 
c.355+54738_355+54739insGTGGGTGGATGGGTGGATGGATGGAA
GCATAGATGGATGGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733865
chr7:105733869 T
T
 C
C
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.355+54735A>G
c.355+54735A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733869
chr7:105733881 T
T
 TCCATCTA
others(30): Show 
TCCATCTATGCTTCCATCCATCCACCCATCCATCCATC
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+54722_355+5472
others(41): Show 
c.355+54722_355+54723insGATGGATGGATGGGTGGATGGATGGA
AGCATAGATGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733881
chr7:105733932 T
T
 TCATC
TCATC
 13 a0001c0001t0001g0078
a0001c0001t0001g0163
a0001c0001t0002g0142
others(10): Show 
a0001c0001t0001g0078
a0001c0001t0001g0163
a0001c0001t0002g0142
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0016g0069
a0001c0001t0025g0104
a0001c0001t0029g0072
a0001c0005t0007g0209
a0002c0002t0030g0212
 13 HG00642.hp1
HG01081.hp1
HG01516.hp1
others(10): Show 
HG00642.hp1
HG01081.hp1
HG01516.hp1
HG01891.hp1
HG02129.hp2
HG02738.hp2
HG03130.hp1
HG03471.hp2
NA18747.hp2
NA18995.hp1
NA19043.hp2
NA19060.hp2
NA19088.hp2
 intron_variant MODIFIER c.355+54668_355+5467
others(8): Show 
c.355+54668_355+54671dupGATG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733932
chr7:105733932 TCATC
TCATC
 T
T
 52 a0001c0001t0001g0003
a0001c0001t0001g0017
a0001c0001t0001g0074
others(49): Show 
a0001c0001t0001g0003
a0001c0001t0001g0017
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0119
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0162
a0001c0001t0002g0187
a0001c0001t0003g0071
a0001c0001t0003g0150
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0009g0013
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0018g0058
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0055g0252
a0002c0002t0022g0066
a0003c0003t0005g0079
 52 HG00323.hp1
HG00673.hp1
HG00735.hp2
others(49): Show 
HG00323.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02129.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02735.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03579.hp1
HG03688.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18957.hp2
NA18994.hp2
NA19054.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+54668_355+5467
others(8): Show 
c.355+54668_355+54671delGATG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733932
chr7:105733956 C
C
 T
T
 4 a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0027g0134
others(1): Show 
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0027g0134
a0001c0001t0044g0110
 4 HG02965.hp1
HG03041.hp2
HG03130.hp2
others(1): Show 
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.355+54648G>A
c.355+54648G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733956
chr7:105733994 T
T
 C
C
 1 a0001c0001t0002g0239
a0001c0001t0002g0239
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.355+54610A>G
c.355+54610A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105733994
chr7:105734184 G
G
 GC
GC
 38 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
others(35): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0006g0116
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0056g0210
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 38 HG00673.hp2
HG00735.hp2
HG01167.hp2
others(35): Show 
HG00673.hp2
HG00735.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01346.hp1
HG02055.hp2
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG03130.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.355+54419dupG
c.355+54419dupG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105734184
chr7:105734195 A
A
 C
C
 9 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0007g0202
others(6): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0007g0202
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
 9 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(6): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
HG02145.hp1
HG02895.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+54409T>G
c.355+54409T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105734195
chr7:105734215 A
A
 G
G
 57 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(54): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
 57 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(54): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+54389T>C
c.355+54389T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105734215
chr7:105734369 C
C
 T
T
 2 a0001c0001t0015g0193
a0001c0001t0056g0210
a0001c0001t0015g0193
a0001c0001t0056g0210
 2 HG01243.hp1
HG03225.hp2
HG01243.hp1
HG03225.hp2
 intron_variant MODIFIER c.355+54235G>A
c.355+54235G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105734369
chr7:105734463 C
C
 G
G
 25 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0163
others(22): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0163
a0001c0001t0002g0021
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0179
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0005g0027
a0001c0001t0006g0067
a0001c0001t0009g0055
a0001c0001t0011g0099
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0018g0046
a0001c0001t0029g0072
a0001c0001t0051g0035
a0001c0001t0054g0087
 25 HG00642.hp1
HG01081.hp1
HG01175.hp2
others(22): Show 
HG00642.hp1
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01346.hp2
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp2
HG02738.hp2
NA18747.hp2
NA18954.hp2
NA18995.hp2
NA19003.hp2
NA19056.hp1
NA19066.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp2
 intron_variant MODIFIER c.355+54141G>C
c.355+54141G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105734463
chr7:105734506 T
T
 C
C
 12 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(9): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0006g0022
a0001c0001t0008g0015
a0001c0001t0011g0143
a0001c0001t0018g0131
a0001c0001t0023g0247
a0001c0001t0062g0007
 12 HG02135.hp1
HG02738.hp1
HG03239.hp1
others(9): Show 
HG02135.hp1
HG02738.hp1
HG03239.hp1
HG03491.hp1
NA18747.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.355+54098A>G
c.355+54098A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105734506
chr7:105734636 G
G
 GT
GT
 33 a0001c0001t0001g0017
a0001c0001t0001g0085
a0001c0001t0001g0088
others(30): Show 
a0001c0001t0001g0017
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0198
a0001c0001t0005g0206
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0031g0172
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0005c0011t0008g0092
 33 HG00673.hp2
HG00735.hp1
HG00735.hp2
others(30): Show 
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG01169.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG02055.hp2
HG02083.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02735.hp1
HG03139.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp1
NA18970.hp2
NA18995.hp1
NA19000.hp1
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.355+53967dupA
c.355+53967dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105734636
chr7:105734802 TAG
TAG
 T
T
 228 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(225): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 228 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(225): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+53800_355+5380
others(6): Show 
c.355+53800_355+53801delCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105734802
chr7:105734844 GA
GA
 G
G
 46 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0145
others(43): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0179
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0027
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0009g0055
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0015g0109
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0021g0184
a0001c0001t0029g0072
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0032g0149
a0002c0002t0059g0200
 46 HG00642.hp1
HG01074.hp1
HG01081.hp1
others(43): Show 
HG00642.hp1
HG01074.hp1
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp2
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18954.hp2
NA19003.hp2
NA19056.hp1
NA19066.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+53759delT
c.355+53759delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105734844
chr7:105734943 C
C
 G
G
 9 a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
others(6): Show 
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0044g0110
 9 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(6): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.355+53661G>C
c.355+53661G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105734943
chr7:105734979 G
G
 A
A
 1 a0001c0001t0012g0232
a0001c0001t0012g0232
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.355+53625C>T
c.355+53625C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105734979
chr7:105735169 A
A
 T
T
 65 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(62): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 65 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(62): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+53435T>A
c.355+53435T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105735169
chr7:105735281 G
G
 A
A
 9 a0001c0001t0001g0214
a0001c0001t0003g0070
a0001c0001t0004g0137
others(6): Show 
a0001c0001t0001g0214
a0001c0001t0003g0070
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0021g0184
a0002c0002t0022g0066
a0002c0002t0059g0200
 9 HG02559.hp1
HG02622.hp1
HG02965.hp2
others(6): Show 
HG02559.hp1
HG02622.hp1
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.355+53323C>T
c.355+53323C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105735281
chr7:105735324 G
G
 A
A
 5 a0001c0001t0004g0219
a0001c0001t0016g0069
a0001c0001t0028g0114
others(2): Show 
a0001c0001t0004g0219
a0001c0001t0016g0069
a0001c0001t0028g0114
a0002c0002t0030g0212
a0007c0009t0007g0096
 5 HG02630.hp2
HG02723.hp1
HG03130.hp1
others(2): Show 
HG02630.hp2
HG02723.hp1
HG03130.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.355+53280C>T
c.355+53280C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105735324
chr7:105735468 T
T
 C
C
 56 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(53): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
 56 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(53): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG03209.hp2
HG03239.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+53136A>G
c.355+53136A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105735468
chr7:105735599 G
G
 T
T
 66 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(63): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 66 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(63): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+53005C>A
c.355+53005C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105735599
chr7:105735628 T
T
 G
G
 2 a0001c0001t0001g0185
a0001c0001t0042g0161
a0001c0001t0001g0185
a0001c0001t0042g0161
 2 NA19009.hp2
NA19010.hp1
NA19009.hp2
NA19010.hp1
 intron_variant MODIFIER c.355+52976A>C
c.355+52976A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105735628
chr7:105735632 G
G
 A
A
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+52972C>T
c.355+52972C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105735632
chr7:105735809 G
G
 A
A
 1 a0001c0001t0005g0182
a0001c0001t0005g0182
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.355+52795C>T
c.355+52795C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105735809
chr7:105735822 A
A
 G
G
 58 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(55): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 58 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(55): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+52782T>C
c.355+52782T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105735822
chr7:105735832 G
G
 C
C
 58 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(55): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 58 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(55): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+52772C>G
c.355+52772C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105735832
chr7:105735882 G
G
 A
A
 58 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(55): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 58 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(55): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+52722C>T
c.355+52722C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105735882
chr7:105736058 G
G
 C
C
 3 a0001c0001t0001g0033
a0001c0001t0004g0039
a0001c0001t0010g0032
a0001c0001t0001g0033
a0001c0001t0004g0039
a0001c0001t0010g0032
 3 NA18971.hp1
NA19066.hp1
NA19086.hp1
NA18971.hp1
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.355+52546C>G
c.355+52546C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105736058
chr7:105736137 C
C
 T
T
 2 a0001c0001t0001g0181
a0006c0010t0031g0204
a0001c0001t0001g0181
a0006c0010t0031g0204
 2 HG02818.hp1
HG03579.hp2
HG02818.hp1
HG03579.hp2
 intron_variant MODIFIER c.355+52467G>A
c.355+52467G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105736137
chr7:105736248 T
T
 C
C
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+52356A>G
c.355+52356A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105736248
chr7:105736257 A
A
 G
G
 59 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(56): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 59 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(56): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+52347T>C
c.355+52347T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105736257
chr7:105736304 C
C
 T
T
 59 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(56): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 59 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(56): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+52300G>A
c.355+52300G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105736304
chr7:105736330 C
C
 T
T
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.355+52274G>A
c.355+52274G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105736330
chr7:105736388 T
T
 C
C
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.355+52216A>G
c.355+52216A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105736388
chr7:105736389 C
C
 G
G
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+52215G>C
c.355+52215G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105736389
chr7:105736414 T
T
 C
C
 1 a0001c0001t0006g0001
a0001c0001t0006g0001
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.355+52190A>G
c.355+52190A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105736414
chr7:105736437 T
T
 C
C
 59 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(56): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 59 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(56): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+52167A>G
c.355+52167A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105736437
chr7:105736470 G
G
 A
A
 1 a0001c0001t0013g0236
a0001c0001t0013g0236
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.355+52134C>T
c.355+52134C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105736470
chr7:105736578 C
C
 T
T
 59 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(56): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 59 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(56): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+52026G>A
c.355+52026G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105736578
chr7:105736624 A
A
 G
G
 150 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(147): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0006c0010t0031g0204
 150 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(147): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+51980T>C
c.355+51980T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105736624
chr7:105736793 G
G
 T
T
 7 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
others(4): Show 
a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0019g0062
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
 7 HG00323.hp1
HG00741.hp2
HG01069.hp1
others(4): Show 
HG00323.hp1
HG00741.hp2
HG01069.hp1
HG01255.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+51811C>A
c.355+51811C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105736793
chr7:105737143 T
T
 C
C
 58 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(55): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 58 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(55): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+51461A>G
c.355+51461A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737143
chr7:105737164 G
G
 A
A
 58 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(55): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 58 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(55): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+51440C>T
c.355+51440C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737164
chr7:105737222 C
C
 T
T
 58 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(55): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 58 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(55): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+51382G>A
c.355+51382G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737222
chr7:105737307 T
T
 A
A
 1 a0001c0001t0048g0132
a0001c0001t0048g0132
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.355+51297A>T
c.355+51297A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737307
chr7:105737318 T
T
 C
C
 1 a0001c0001t0014g0038
a0001c0001t0014g0038
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.355+51286A>G
c.355+51286A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737318
chr7:105737525 C
C
 G
G
 155 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(152): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0006c0010t0031g0204
 155 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(152): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+51079G>C
c.355+51079G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737525
chr7:105737528 C
C
 CGT
CGT
 4 a0001c0001t0006g0116
a0001c0001t0007g0218
a0001c0001t0021g0227
others(1): Show 
a0001c0001t0006g0116
a0001c0001t0007g0218
a0001c0001t0021g0227
a0001c0001t0026g0189
 4 HG01109.hp1
HG02622.hp2
HG03041.hp2
others(1): Show 
HG01109.hp1
HG02622.hp2
HG03041.hp2
NA19043.hp2
 intron_variant MODIFIER c.355+51074_355+5107
others(6): Show 
c.355+51074_355+51075dupAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737528
chr7:105737528 C
C
 CGTGT
CGTGT
 22 a0001c0001t0001g0074
a0001c0001t0001g0082
a0001c0001t0001g0119
others(19): Show 
a0001c0001t0001g0074
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0118
a0001c0001t0003g0235
a0001c0001t0004g0127
a0001c0001t0005g0126
a0001c0001t0008g0075
a0001c0001t0012g0052
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0027g0134
a0001c0001t0044g0110
a0001c0001t0054g0087
 22 HG00735.hp2
HG01109.hp2
HG01167.hp2
others(19): Show 
HG00735.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03669.hp1
HG03831.hp2
NA18957.hp2
NA18994.hp2
NA18995.hp2
 intron_variant MODIFIER c.355+51072_355+5107
others(8): Show 
c.355+51072_355+51075dupACAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737528
chr7:105737528 C
C
 CGTGTGT
CGTGTGT
 7 a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
others(4): Show 
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0013g0236
a0001c0001t0024g0077
a0001c0001t0048g0132
a0001c0006t0001g0112
 7 HG00673.hp1
HG00738.hp1
HG02523.hp2
others(4): Show 
HG00673.hp1
HG00738.hp1
HG02523.hp2
HG02559.hp2
HG02895.hp1
HG03491.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+51070_355+5107
others(10): Show 
c.355+51070_355+51075dupACACAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737528
chr7:105737528 C
C
 CGTGTGTG
others(1): Show 
CGTGTGTGT
 18 a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
others(15): Show 
a0001c0001t0001g0033
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0013g0129
a0001c0001t0016g0069
a0001c0001t0027g0008
a0001c0001t0050g0155
a0001c0001t0060g0192
a0002c0002t0030g0212
a0005c0011t0008g0092
a0007c0009t0007g0096
 18 HG00673.hp2
HG01346.hp1
HG02055.hp2
others(15): Show 
HG00673.hp2
HG01346.hp1
HG02055.hp2
HG02145.hp1
HG02148.hp1
HG02602.hp2
HG02630.hp2
HG02723.hp1
HG03130.hp1
HG03139.hp2
HG03471.hp2
HG03669.hp2
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18971.hp1
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.355+51068_355+5107
others(12): Show 
c.355+51068_355+51075dupACACACAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737528
chr7:105737528 C
C
 CGTGTGTG
others(3): Show 
CGTGTGTGTGT
 12 a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
others(9): Show 
a0001c0001t0001g0174
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0016g0176
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0012t0003g0047
 12 HG01192.hp2
HG01243.hp1
HG02083.hp1
others(9): Show 
HG01192.hp2
HG01243.hp1
HG02083.hp1
HG02135.hp2
HG02165.hp1
HG02735.hp1
HG02895.hp2
HG03490.hp2
NA18943.hp1
NA18945.hp1
NA19043.hp1
NA19054.hp2
 intron_variant MODIFIER c.355+51066_355+5107
others(14): Show 
c.355+51066_355+51075dupACACACACAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737528
chr7:105737528 C
C
 CGTGTGTG
others(5): Show 
CGTGTGTGTGTGT
 5 a0001c0001t0001g0017
a0001c0001t0001g0205
a0001c0001t0001g0222
others(2): Show 
a0001c0001t0001g0017
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0009g0054
a0001c0001t0056g0210
 5 HG02280.hp2
HG02451.hp2
HG03225.hp2
others(2): Show 
HG02280.hp2
HG02451.hp2
HG03225.hp2
HG03688.hp2
NA18995.hp1
 intron_variant MODIFIER c.355+51064_355+5107
others(16): Show 
c.355+51064_355+51075dupACACACACACAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737528
chr7:105737528 CGTGTGTG
others(3): Show 
CGTGTGTGTGT
 C
C
 4 a0001c0001t0001g0181
a0001c0001t0003g0029
a0001c0001t0005g0182
others(1): Show 
a0001c0001t0001g0181
a0001c0001t0003g0029
a0001c0001t0005g0182
a0006c0010t0031g0204
 4 HG00323.hp1
HG02818.hp1
HG03579.hp2
others(1): Show 
HG00323.hp1
HG02818.hp1
HG03579.hp2
NA18957.hp1
 intron_variant MODIFIER c.355+51066_355+5107
others(14): Show 
c.355+51066_355+51075delACACACACAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737528
chr7:105737528 CGTGTGTG
others(5): Show 
CGTGTGTGTGTGT
 C
C
 75 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(72): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
 75 HG00558.hp1
HG00558.hp2
HG00741.hp2
others(72): Show 
HG00558.hp1
HG00558.hp2
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG03209.hp2
HG03239.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18962.hp1
NA18970.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+51064_355+5107
others(16): Show 
c.355+51064_355+51075delACACACACACAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737528
chr7:105737528 CGTGTGTG
others(7): Show 
CGTGTGTGTGTGTGT
 C
C
 79 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(76): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0014g0233
a0001c0001t0015g0109
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 79 HG00642.hp1
HG00738.hp2
HG00741.hp1
others(76): Show 
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18954.hp2
NA18962.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19066.hp2
NA19068.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+51062_355+5107
others(18): Show 
c.355+51062_355+51075delACACACACACACAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737528
chr7:105737642 C
C
 T
T
 1 a0001c0001t0058g0018
a0001c0001t0058g0018
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.355+50962G>A
c.355+50962G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737642
chr7:105737742 T
T
 C
C
 1 a0001c0001t0017g0113
a0001c0001t0017g0113
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.355+50862A>G
c.355+50862A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737742
chr7:105737777 C
C
 T
T
 1 a0001c0001t0002g0002
a0001c0001t0002g0002
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.355+50827G>A
c.355+50827G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737777
chr7:105737859 G
G
 T
T
 59 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(56): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 59 HG00558.hp1
HG00558.hp2
HG01099.hp1
others(56): Show 
HG00558.hp1
HG00558.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+50745C>A
c.355+50745C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737859
chr7:105737998 G
G
 A
A
 159 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
others(156): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0233
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0044g0110
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0007c0009t0007g0096
 159 HG00642.hp1
HG00673.hp1
HG00673.hp2
others(156): Show 
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+50606C>T
c.355+50606C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105737998
chr7:105738017 G
G
 A
A
 229 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(226): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 229 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(226): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+50587C>T
c.355+50587C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105738017
chr7:105738153 G
G
 A
A
 1 a0001c0001t0015g0109
a0001c0001t0015g0109
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.355+50451C>T
c.355+50451C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105738153
chr7:105738182 C
C
 G
G
 78 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0074
others(75): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0003g0011
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0127
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0003c0003t0005g0079
a0005c0011t0008g0092
a0007c0009t0007g0096
 78 HG00323.hp1
HG00673.hp1
HG00673.hp2
others(75): Show 
HG00323.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG02015.hp1
HG02055.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG04199.hp2
HG06807.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18957.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA18995.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+50422G>C
c.355+50422G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105738182
chr7:105738229 T
T
 C
C
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.355+50375A>G
c.355+50375A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105738229
chr7:105738251 G
G
 A
A
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+50353C>T
c.355+50353C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105738251
chr7:105738296 C
C
 T
T
 225 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(222): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 225 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(222): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+50308G>A
c.355+50308G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105738296
chr7:105738315 A
A
 T
T
 1 a0001c0001t0048g0132
a0001c0001t0048g0132
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.355+50289T>A
c.355+50289T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105738315
chr7:105738495 C
C
 T
T
 229 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(226): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 229 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(226): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+50109G>A
c.355+50109G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105738495
chr7:105738552 A
A
 G
G
 3 a0001c0001t0012g0064
a0001c0001t0019g0063
a0001c0001t0058g0018
a0001c0001t0012g0064
a0001c0001t0019g0063
a0001c0001t0058g0018
 3 HG01261.hp2
HG02602.hp1
HG03831.hp1
HG01261.hp2
HG02602.hp1
HG03831.hp1
 intron_variant MODIFIER c.355+50052T>C
c.355+50052T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105738552
chr7:105738816 T
T
 C
C
 2 a0001c0001t0002g0162
a0001c0001t0024g0250
a0001c0001t0002g0162
a0001c0001t0024g0250
 2 HG02056.hp1
NA19054.hp1
HG02056.hp1
NA19054.hp1
 intron_variant MODIFIER c.355+49788A>G
c.355+49788A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105738816
chr7:105738974 A
A
 C
C
 206 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(203): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 206 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(203): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+49630T>G
c.355+49630T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105738974
chr7:105738975 A
A
 C
C
 1 a0001c0001t0016g0176
a0001c0001t0016g0176
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.355+49629T>G
c.355+49629T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105738975
chr7:105738996 C
C
 T
T
 206 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(203): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 206 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(203): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+49608G>A
c.355+49608G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105738996
chr7:105739179 G
G
 A
A
 58 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(55): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
 58 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(55): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02735.hp2
HG02738.hp1
HG03209.hp2
HG03239.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+49425C>T
c.355+49425C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105739179
chr7:105739317 C
C
 A
A
 4 a0001c0001t0001g0119
a0001c0001t0015g0125
a0001c0001t0015g0140
others(1): Show 
a0001c0001t0001g0119
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0020g0120
 4 HG01168.hp1
HG01192.hp1
HG01515.hp2
others(1): Show 
HG01168.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.355+49287G>T
c.355+49287G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105739317
chr7:105739372 T
T
 C
C
 1 a0001c0001t0006g0117
a0001c0001t0006g0117
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.355+49232A>G
c.355+49232A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105739372
chr7:105739572 G
G
 A
A
 2 a0001c0001t0004g0211
a0001c0001t0016g0139
a0001c0001t0004g0211
a0001c0001t0016g0139
 2 NA18522.hp1
NA18906.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.355+49032C>T
c.355+49032C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105739572
chr7:105739619 T
T
 C
C
 1 a0001c0001t0003g0011
a0001c0001t0003g0011
 1 NA18943.hp1
NA18943.hp1
 intron_variant MODIFIER c.355+48985A>G
c.355+48985A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105739619
chr7:105739640 A
A
 G
G
 3 a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0031g0172
 3 HG01257.hp2
HG01258.hp1
HG02572.hp2
HG01257.hp2
HG01258.hp1
HG02572.hp2
 intron_variant MODIFIER c.355+48964T>C
c.355+48964T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105739640
chr7:105739647 A
A
 G
G
 1 a0001c0001t0005g0206
a0001c0001t0005g0206
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.355+48957T>C
c.355+48957T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105739647
chr7:105739915 T
T
 C
C
 203 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(200): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
 203 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(200): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+48689A>G
c.355+48689A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105739915
chr7:105740082 A
A
 T
T
 1 a0001c0001t0018g0058
a0001c0001t0018g0058
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.355+48522T>A
c.355+48522T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740082
chr7:105740390 C
C
 T
T
 1 a0001c0001t0002g0177
a0001c0001t0002g0177
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.355+48214G>A
c.355+48214G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740390
chr7:105740416 A
A
 C
C
 3 a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
 3 HG01884.hp1
HG01891.hp2
NA19240.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+48188T>G
c.355+48188T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740416
chr7:105740456 G
G
 C
C
 1 a0001c0001t0017g0195
a0001c0001t0017g0195
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.355+48148C>G
c.355+48148C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740456
chr7:105740556 T
T
 C
C
 3 a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
 3 HG01884.hp1
HG01891.hp2
NA19240.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+48048A>G
c.355+48048A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740556
chr7:105740784 T
T
 TTTTTTTT
others(10): Show 
TTTTTTTTTTTTTTTTGA
 1 a0001c0001t0010g0095
a0001c0001t0010g0095
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.355+47819_355+4782
others(21): Show 
c.355+47819_355+47820insTCAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740784
chr7:105740784 T
T
 TTTTTTTT
others(12): Show 
TTTTTTTTTTTTTTTTTTGA
 4 a0001c0001t0014g0166
a0001c0001t0021g0130
a0001c0001t0045g0190
others(1): Show 
a0001c0001t0014g0166
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
 4 HG01884.hp1
HG01891.hp2
HG01981.hp2
others(1): Show 
HG01884.hp1
HG01891.hp2
HG01981.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+47819_355+4782
others(23): Show 
c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740784
chr7:105740784 T
T
 TTTTTTTT
others(15): Show 
TTTTTTTTTTTTTTTTTTTTTGA
 5 a0001c0001t0001g0145
a0001c0001t0002g0056
a0001c0001t0004g0211
others(2): Show 
a0001c0001t0001g0145
a0001c0001t0002g0056
a0001c0001t0004g0211
a0001c0001t0006g0117
a0001c0001t0009g0055
 5 HG02451.hp1
HG02896.hp1
NA18522.hp1
others(2): Show 
HG02451.hp1
HG02896.hp1
NA18522.hp1
NA19066.hp2
NA19086.hp2
 intron_variant MODIFIER c.355+47819_355+4782
others(26): Show 
c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740784
chr7:105740784 T
T
 TTTTTTTT
others(16): Show 
TTTTTTTTTTTTTTTTTTTTTTGA
 61 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
others(58): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0002g0010
a0001c0001t0002g0049
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0008g0015
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0024g0250
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0033g0221
 61 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(58): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00738.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01978.hp2
HG02056.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02300.hp1
HG02523.hp1
HG02647.hp1
HG02735.hp2
HG02896.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03688.hp1
HG04199.hp1
NA18747.hp1
NA18906.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18989.hp1
NA19003.hp1
NA19003.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19074.hp1
NA19079.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+47819_355+4782
others(27): Show 
c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740784
chr7:105740784 T
T
 TTTTTTTT
others(17): Show 
TTTTTTTTTTTTTTTTTTTTTTTGA
 64 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
others(61): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0005g0025
a0001c0001t0005g0159
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0045
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0103
a0001c0001t0009g0146
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0164
a0001c0001t0014g0233
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0029g0072
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0149
a0002c0002t0059g0200
 64 HG00642.hp1
HG00735.hp1
HG00741.hp1
others(61): Show 
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01175.hp2
HG01256.hp1
HG01261.hp1
HG01358.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02155.hp2
HG02165.hp2
HG02572.hp1
HG02630.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03239.hp2
HG03491.hp1
HG03540.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18957.hp1
NA18989.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+47819_355+4782
others(28): Show 
c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740784
chr7:105740784 T
T
 TTTTTTTT
others(18): Show 
TTTTTTTTTTTTTTTTTTTTTTTTGA
 14 a0001c0001t0001g0181
a0001c0001t0003g0030
a0001c0001t0003g0070
others(11): Show 
a0001c0001t0001g0181
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0006g0022
a0001c0001t0011g0143
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0016g0136
a0001c0001t0019g0063
a0001c0001t0023g0183
a0001c0001t0048g0132
a0001c0001t0058g0018
 14 HG01261.hp2
HG01943.hp1
HG02027.hp1
others(11): Show 
HG01261.hp2
HG01943.hp1
HG02027.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02738.hp1
HG02818.hp1
HG03831.hp1
NA18906.hp2
NA18971.hp2
NA19091.hp2
NA20300.hp2
 intron_variant MODIFIER c.355+47819_355+4782
others(29): Show 
c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740784
chr7:105740784 T
T
 TTTTTTTT
others(19): Show 
TTTTTTTTTTTTTTTTTTTTTTTTTGA
 7 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(4): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0006g0001
a0001c0001t0007g0223
a0001c0001t0023g0247
a0001c0001t0062g0007
 7 HG02056.hp2
HG02135.hp1
HG03516.hp1
others(4): Show 
HG02056.hp2
HG02135.hp1
HG03516.hp1
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
 intron_variant MODIFIER c.355+47819_355+4782
others(30): Show 
c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740784
chr7:105740784 T
T
 TTTTTTTT
others(20): Show 
TTTTTTTTTTTTTTTTTTTTTTTTTTGA
 1 a0001c0001t0053g0031
a0001c0001t0053g0031
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.355+47819_355+4782
others(31): Show 
c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAAAAAAAAA
A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740784
chr7:105740784 T
T
 TTTTTTTT
others(21): Show 
TTTTTTTTTTTTTTTTTTTTTTTTTTTGA
 2 a0001c0001t0001g0201
a0001c0001t0015g0019
a0001c0001t0001g0201
a0001c0001t0015g0019
 2 HG02647.hp2
HG03942.hp1
HG02647.hp2
HG03942.hp1
 intron_variant MODIFIER c.355+47819_355+4782
others(32): Show 
c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAAAAAAAAA
AA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740784
chr7:105740785 A
A
 G
G
 161 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(158): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 161 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(158): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+47819T>C
c.355+47819T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740785
chr7:105740787 T
T
 C
C
 161 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(158): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 161 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(158): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+47817A>G
c.355+47817A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740787
chr7:105740796 A
A
 G
G
 163 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(160): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 163 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(160): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+47808T>C
c.355+47808T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740796
chr7:105740827 C
C
 T
T
 1 a0001c0001t0013g0236
a0001c0001t0013g0236
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.355+47777G>A
c.355+47777G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740827
chr7:105740832 T
T
 C
C
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+47772A>G
c.355+47772A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740832
chr7:105740905 C
C
 T
T
 4 a0001c0001t0007g0202
a0001c0001t0021g0130
a0001c0001t0045g0190
others(1): Show 
a0001c0001t0007g0202
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
 4 HG01884.hp1
HG01891.hp2
HG02895.hp1
others(1): Show 
HG01884.hp1
HG01891.hp2
HG02895.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+47699G>A
c.355+47699G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740905
chr7:105740921 C
C
 T
T
 3 a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0031g0172
 3 HG01257.hp2
HG01258.hp1
HG02572.hp2
HG01257.hp2
HG01258.hp1
HG02572.hp2
 intron_variant MODIFIER c.355+47683G>A
c.355+47683G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740921
chr7:105740922 G
G
 A
A
 1 a0001c0001t0012g0244
a0001c0001t0012g0244
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.355+47682C>T
c.355+47682C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105740922
chr7:105741406 A
A
 AC
AC
 132 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(129): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0127
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
 132 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(129): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19086.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+47197_355+4719
others(5): Show 
c.355+47197_355+47198insG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105741406
chr7:105741521 C
C
 T
T
 2 a0001c0001t0007g0202
a0006c0010t0031g0204
a0001c0001t0007g0202
a0006c0010t0031g0204
 2 HG02895.hp1
HG03579.hp2
HG02895.hp1
HG03579.hp2
 intron_variant MODIFIER c.355+47083G>A
c.355+47083G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105741521
chr7:105741583 C
C
 G
G
 1 a0001c0001t0010g0095
a0001c0001t0010g0095
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.355+47021G>C
c.355+47021G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105741583
chr7:105741652 C
C
 T
T
 2 a0001c0001t0007g0202
a0006c0010t0031g0204
a0001c0001t0007g0202
a0006c0010t0031g0204
 2 HG02895.hp1
HG03579.hp2
HG02895.hp1
HG03579.hp2
 intron_variant MODIFIER c.355+46952G>A
c.355+46952G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105741652
chr7:105741743 G
G
 A
A
 2 a0001c0001t0004g0128
a0001c0001t0006g0067
a0001c0001t0004g0128
a0001c0001t0006g0067
 2 HG01175.hp2
HG01255.hp1
HG01175.hp2
HG01255.hp1
 intron_variant MODIFIER c.355+46861C>T
c.355+46861C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105741743
chr7:105741998 T
T
 C
C
 3 a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
 3 HG01884.hp1
HG01891.hp2
NA19240.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+46606A>G
c.355+46606A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105741998
chr7:105742110 A
A
 G
G
 95 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(92): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0062g0007
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
 95 HG00642.hp1
HG00738.hp2
HG00741.hp1
others(92): Show 
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+46494T>C
c.355+46494T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105742110
chr7:105742282 C
C
 T
T
 103 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(100): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0039
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0005c0011t0008g0092
 103 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(100): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp1
NA18995.hp1
NA18995.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19086.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+46322G>A
c.355+46322G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105742282
chr7:105742304 T
T
 C
C
 203 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(200): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
 203 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(200): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+46300A>G
c.355+46300A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105742304
chr7:105742462 G
G
 A
A
 2 a0001c0001t0007g0202
a0006c0010t0031g0204
a0001c0001t0007g0202
a0006c0010t0031g0204
 2 HG02895.hp1
HG03579.hp2
HG02895.hp1
HG03579.hp2
 intron_variant MODIFIER c.355+46142C>T
c.355+46142C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105742462
chr7:105742777 TATTTTAA
others(12): Show 
TATTTTAATTTTAAACATAA
 T
T
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+45808_355+4582
others(23): Show 
c.355+45808_355+45826delTTATGTTTAAAATTAAAAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105742777
chr7:105742793 A
A
 G
G
 134 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
others(131): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0206
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0044g0110
a0001c0001t0047g0121
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
 134 HG00642.hp1
HG00673.hp2
HG00735.hp2
others(131): Show 
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02735.hp1
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+45811T>C
c.355+45811T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105742793
chr7:105742834 G
G
 A
A
 1 a0001c0001t0003g0238
a0001c0001t0003g0238
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.355+45770C>T
c.355+45770C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105742834
chr7:105742947 T
T
 G
G
 3 a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0021g0130
a0001c0001t0045g0190
a0001c0001t0055g0252
 3 HG01884.hp1
HG01891.hp2
NA19240.hp2
HG01884.hp1
HG01891.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+45657A>C
c.355+45657A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105742947
chr7:105743013 C
C
 T
T
 108 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(105): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0039
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0169
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0005c0011t0008g0092
 108 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(105): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp1
NA18995.hp1
NA18995.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+45591G>A
c.355+45591G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105743013
chr7:105743378 G
G
 C
C
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+45226C>G
c.355+45226C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105743378
chr7:105743390 T
T
 G
G
 1 a0002c0002t0032g0226
a0002c0002t0032g0226
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.355+45214A>C
c.355+45214A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105743390
chr7:105743429 T
T
 C
C
 70 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(67): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0223
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
 70 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(67): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01168.hp2
HG01169.hp1
HG01243.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+45175A>G
c.355+45175A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105743429
chr7:105743486 A
A
 G
G
 2 a0001c0001t0002g0188
a0001c0001t0014g0166
a0001c0001t0002g0188
a0001c0001t0014g0166
 2 HG01981.hp2
NA19091.hp1
HG01981.hp2
NA19091.hp1
 intron_variant MODIFIER c.355+45118T>C
c.355+45118T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105743486
chr7:105743579 TA
TA
 T
T
 66 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(63): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0008t0014g0165
a0002c0002t0022g0220
 66 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(63): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01168.hp2
HG01169.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp2
HG03516.hp1
HG03831.hp1
HG03942.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+45024delT
c.355+45024delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105743579
chr7:105743585 C
C
 G
G
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.355+45019G>C
c.355+45019G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105743585
chr7:105743698 C
C
 T
T
 1 a0001c0001t0021g0227
a0001c0001t0021g0227
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.355+44906G>A
c.355+44906G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105743698
chr7:105743714 C
C
 T
T
 21 a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0082
others(18): Show 
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0006g0024
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0013g0236
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0020g0120
a0001c0001t0024g0077
a0001c0001t0028g0114
a0002c0002t0030g0212
a0006c0010t0031g0204
a0007c0009t0007g0096
 21 HG00673.hp1
HG00738.hp1
HG01168.hp1
others(18): Show 
HG00673.hp1
HG00738.hp1
HG01168.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
HG02630.hp2
HG02723.hp1
HG02895.hp1
HG03130.hp1
HG03471.hp2
HG03579.hp2
HG04199.hp2
NA18957.hp2
NA18971.hp1
NA18994.hp2
NA19043.hp1
 intron_variant MODIFIER c.355+44890G>A
c.355+44890G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105743714
chr7:105743869 C
C
 A
A
 21 a0001c0001t0001g0026
a0001c0001t0002g0042
a0001c0001t0002g0177
others(18): Show 
a0001c0001t0001g0026
a0001c0001t0002g0042
a0001c0001t0002g0177
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0146
a0001c0001t0011g0012
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0023g0183
a0001c0007t0038g0158
 21 HG00741.hp1
HG01934.hp1
HG01943.hp2
others(18): Show 
HG00741.hp1
HG01934.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02155.hp1
HG02300.hp1
HG03688.hp1
NA18948.hp1
NA18970.hp1
NA18989.hp2
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19087.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+44735G>T
c.355+44735G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105743869
chr7:105744060 C
C
 T
T
 2 a0001c0001t0013g0156
a0001c0001t0056g0210
a0001c0001t0013g0156
a0001c0001t0056g0210
 2 HG02895.hp2
HG03225.hp2
HG02895.hp2
HG03225.hp2
 intron_variant MODIFIER c.355+44544G>A
c.355+44544G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105744060
chr7:105744114 C
C
 A
A
 65 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(62): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
 65 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(62): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01168.hp2
HG01169.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03831.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+44490G>T
c.355+44490G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105744114
chr7:105744220 T
T
 C
C
 90 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(87): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0062g0007
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0032g0149
a0002c0002t0059g0200
 90 HG00642.hp1
HG00738.hp2
HG00741.hp1
others(87): Show 
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01261.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+44384A>G
c.355+44384A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105744220
chr7:105744334 G
G
 C
C
 43 a0001c0001t0001g0017
a0001c0001t0001g0085
a0001c0001t0001g0088
others(40): Show 
a0001c0001t0001g0017
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0186
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0005g0206
a0001c0001t0006g0116
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0031g0172
a0001c0001t0037g0065
a0001c0001t0044g0110
a0001c0001t0049g0148
a0001c0001t0054g0087
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0033g0221
a0003c0003t0005g0079
a0005c0011t0008g0092
 43 HG00673.hp2
HG00735.hp2
HG01074.hp2
others(40): Show 
HG00673.hp2
HG00735.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp1
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01978.hp2
HG02055.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02280.hp1
HG02572.hp2
HG02622.hp2
HG02735.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03491.hp2
HG03540.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp2
NA18995.hp1
NA18995.hp2
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.355+44270C>G
c.355+44270C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105744334
chr7:105744382 A
A
 G
G
 2 a0001c0001t0013g0156
a0001c0001t0056g0210
a0001c0001t0013g0156
a0001c0001t0056g0210
 2 HG02895.hp2
HG03225.hp2
HG02895.hp2
HG03225.hp2
 intron_variant MODIFIER c.355+44222T>C
c.355+44222T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105744382
chr7:105744425 CT
CT
 C
C
 224 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(221): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 224 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(221): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+44178delA
c.355+44178delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105744425
chr7:105744460 C
C
 T
T
 68 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(65): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
 68 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(65): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01168.hp2
HG01169.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03831.hp1
HG04199.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+44144G>A
c.355+44144G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105744460
chr7:105744531 C
C
 T
T
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+44073G>A
c.355+44073G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105744531
chr7:105744691 C
C
 G
G
 23 a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0082
others(20): Show 
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0004g0127
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0006g0024
a0001c0001t0006g0197
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0020g0120
a0001c0001t0024g0077
a0001c0001t0028g0114
a0002c0002t0030g0212
a0007c0009t0007g0096
 23 HG00673.hp1
HG00738.hp1
HG01168.hp1
others(20): Show 
HG00673.hp1
HG00738.hp1
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
HG02630.hp2
HG02723.hp1
HG03130.hp1
HG03471.hp2
HG03669.hp1
HG04199.hp2
NA18957.hp2
NA18971.hp1
NA18994.hp2
NA19043.hp1
 intron_variant MODIFIER c.355+43913G>C
c.355+43913G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105744691
chr7:105744735 C
C
 CT
CT
 165 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(162): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0149
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
 165 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(162): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01168.hp1
HG01169.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG04199.hp1
HG04199.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+43868dupA
c.355+43868dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105744735
chr7:105744735 C
C
 CTT
CTT
 16 a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
others(13): Show 
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0231
a0001c0001t0003g0238
a0001c0001t0004g0211
a0001c0001t0006g0067
a0001c0001t0008g0175
a0001c0001t0009g0103
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0013g0242
a0001c0001t0023g0183
a0001c0001t0029g0215
a0001c0001t0041g0196
a0001c0001t0062g0007
 16 HG01175.hp2
HG01433.hp2
HG01496.hp1
others(13): Show 
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01978.hp2
HG02027.hp1
HG02280.hp2
HG02451.hp2
HG03491.hp1
HG06807.hp1
NA18522.hp1
NA18943.hp2
NA19000.hp2
NA19030.hp1
NA19030.hp2
NA19067.hp2
NA19087.hp2
 intron_variant MODIFIER c.355+43867_355+4386
others(6): Show 
c.355+43867_355+43868dupAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105744735
chr7:105744735 CT
CT
 C
C
 5 a0001c0001t0015g0019
a0001c0001t0031g0172
a0002c0002t0030g0208
others(2): Show 
a0001c0001t0015g0019
a0001c0001t0031g0172
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0033g0221
 5 HG01074.hp2
HG01257.hp2
HG02896.hp2
others(2): Show 
HG01074.hp2
HG01257.hp2
HG02896.hp2
HG03540.hp2
HG03942.hp1
 intron_variant MODIFIER c.355+43868delA
c.355+43868delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105744735
chr7:105744964 C
C
 A
A
 1 a0001c0001t0006g0067
a0001c0001t0006g0067
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.355+43640G>T
c.355+43640G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105744964
chr7:105745059 G
G
 A
A
 2 a0001c0001t0013g0156
a0001c0001t0056g0210
a0001c0001t0013g0156
a0001c0001t0056g0210
 2 HG02895.hp2
HG03225.hp2
HG02895.hp2
HG03225.hp2
 intron_variant MODIFIER c.355+43545C>T
c.355+43545C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105745059
chr7:105745283 G
G
 A
A
 1 a0001c0001t0003g0050
a0001c0001t0003g0050
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.355+43321C>T
c.355+43321C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105745283
chr7:105745692 T
T
 C
C
 5 a0001c0001t0004g0219
a0001c0001t0016g0069
a0001c0001t0028g0114
others(2): Show 
a0001c0001t0004g0219
a0001c0001t0016g0069
a0001c0001t0028g0114
a0002c0002t0030g0212
a0007c0009t0007g0096
 5 HG02630.hp2
HG02723.hp1
HG03130.hp1
others(2): Show 
HG02630.hp2
HG02723.hp1
HG03130.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.355+42912A>G
c.355+42912A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105745692
chr7:105745742 G
G
 A
A
 1 a0001c0001t0010g0051
a0001c0001t0010g0051
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.355+42862C>T
c.355+42862C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105745742
chr7:105745751 C
C
 G
G
 2 a0001c0001t0021g0130
a0001c0001t0055g0252
a0001c0001t0021g0130
a0001c0001t0055g0252
 2 HG01884.hp1
NA19240.hp2
HG01884.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+42853G>C
c.355+42853G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105745751
chr7:105745755 G
G
 C
C
 89 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0033
others(86): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0127
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0030g0212
a0007c0009t0007g0096
 89 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(86): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01943.hp1
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03130.hp1
HG03209.hp2
HG03239.hp2
HG03471.hp2
HG03516.hp1
HG03669.hp1
HG03831.hp1
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+42849C>G
c.355+42849C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105745755
chr7:105745816 T
T
 C
C
 23 a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0082
others(20): Show 
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0004g0127
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0006g0024
a0001c0001t0006g0197
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0020g0120
a0001c0001t0024g0077
a0001c0001t0028g0114
a0002c0002t0030g0212
a0007c0009t0007g0096
 23 HG00673.hp1
HG00738.hp1
HG01168.hp1
others(20): Show 
HG00673.hp1
HG00738.hp1
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
HG02630.hp2
HG02723.hp1
HG03130.hp1
HG03471.hp2
HG03669.hp1
HG04199.hp2
NA18957.hp2
NA18971.hp1
NA18994.hp2
NA19043.hp1
 intron_variant MODIFIER c.355+42788A>G
c.355+42788A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105745816
chr7:105745951 A
A
 T
T
 1 a0001c0001t0022g0224
a0001c0001t0022g0224
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.355+42653T>A
c.355+42653T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105745951
chr7:105745983 CCCCTGCT
others(3): Show 
CCCCTGCTTTT
 C
C
 2 a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0020g0169
a0001c0001t0031g0172
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.355+42611_355+4262
others(14): Show 
c.355+42611_355+42620delAAAAGCAGGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105745983
chr7:105746015 C
C
 T
T
 203 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(200): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
 203 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(200): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+42589G>A
c.355+42589G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105746015
chr7:105746019 T
T
 G
G
 68 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(65): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0006c0010t0031g0204
 68 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(65): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01168.hp2
HG01169.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02895.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp1
HG03579.hp2
HG03831.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+42585A>C
c.355+42585A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105746019
chr7:105746186 G
G
 A
A
 1 a0001c0004t0010g0154
a0001c0004t0010g0154
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.355+42418C>T
c.355+42418C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105746186
chr7:105746267 C
C
 T
T
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+42337G>A
c.355+42337G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105746267
chr7:105746324 T
T
 C
C
 1 a0001c0001t0006g0022
a0001c0001t0006g0022
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.355+42280A>G
c.355+42280A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105746324
chr7:105746430 C
C
 T
T
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+42174G>A
c.355+42174G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105746430
chr7:105746712 A
A
 G
G
 4 a0001c0001t0001g0145
a0001c0001t0010g0228
a0001c0001t0039g0180
others(1): Show 
a0001c0001t0001g0145
a0001c0001t0010g0228
a0001c0001t0039g0180
a0002c0002t0032g0149
 4 HG02818.hp2
HG02896.hp1
HG03098.hp1
others(1): Show 
HG02818.hp2
HG02896.hp1
HG03098.hp1
HG03540.hp1
 intron_variant MODIFIER c.355+41892T>C
c.355+41892T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105746712
chr7:105746970 T
T
 C
C
 2 a0001c0001t0013g0156
a0001c0001t0056g0210
a0001c0001t0013g0156
a0001c0001t0056g0210
 2 HG02895.hp2
HG03225.hp2
HG02895.hp2
HG03225.hp2
 intron_variant MODIFIER c.355+41634A>G
c.355+41634A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105746970
chr7:105747096 C
C
 T
T
 1 a0001c0001t0019g0063
a0001c0001t0019g0063
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.355+41508G>A
c.355+41508G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105747096
chr7:105747169 G
G
 A
A
 3 a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0031g0172
 3 HG01257.hp2
HG01258.hp1
HG02572.hp2
HG01257.hp2
HG01258.hp1
HG02572.hp2
 intron_variant MODIFIER c.355+41435C>T
c.355+41435C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105747169
chr7:105747226 A
A
 G
G
 2 a0001c0001t0003g0043
a0001c0001t0008g0089
a0001c0001t0003g0043
a0001c0001t0008g0089
 2 HG02132.hp2
HG02523.hp1
HG02132.hp2
HG02523.hp1
 intron_variant MODIFIER c.355+41378T>C
c.355+41378T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105747226
chr7:105747278 T
T
 C
C
 160 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(157): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0149
a0002c0002t0059g0200
 160 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(157): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01109.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03831.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+41326A>G
c.355+41326A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105747278
chr7:105747279 G
G
 A
A
 2 a0001c0001t0001g0163
a0001c0004t0010g0154
a0001c0001t0001g0163
a0001c0004t0010g0154
 2 HG02129.hp2
HG03490.hp2
HG02129.hp2
HG03490.hp2
 intron_variant MODIFIER c.355+41325C>T
c.355+41325C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105747279
chr7:105747389 T
T
 C
C
 1 a0001c0001t0014g0237
a0001c0001t0014g0237
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.355+41215A>G
c.355+41215A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105747389
chr7:105747666 G
G
 T
T
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+40938C>A
c.355+40938C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105747666
chr7:105747678 C
C
 T
T
 224 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(221): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 224 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(221): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+40926G>A
c.355+40926G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105747678
chr7:105747740 T
T
 C
C
 1 a0001c0001t0022g0224
a0001c0001t0022g0224
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.355+40864A>G
c.355+40864A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105747740
chr7:105747755 T
T
 A
A
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.355+40849A>T
c.355+40849A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105747755
chr7:105747888 A
A
 AG
AG
 226 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(223): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 226 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(223): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+40715dupC
c.355+40715dupC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105747888
chr7:105747970 T
T
 C
C
 2 a0001c0001t0003g0150
a0001c0001t0005g0182
a0001c0001t0003g0150
a0001c0001t0005g0182
 2 HG00323.hp1
HG01069.hp1
HG00323.hp1
HG01069.hp1
 intron_variant MODIFIER c.355+40634A>G
c.355+40634A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105747970
chr7:105748116 CA
CA
 C
C
 138 a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0078
others(135): Show 
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0206
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
 138 HG00280.hp2
HG00642.hp1
HG00673.hp2
others(135): Show 
HG00280.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02735.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19005.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+40487delT
c.355+40487delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105748116
chr7:105748116 CAA
CAA
 C
C
 63 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(60): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0014g0166
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
 63 HG00323.hp1
HG00558.hp1
HG00558.hp2
others(60): Show 
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01168.hp2
HG01169.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02895.hp1
HG03041.hp2
HG03209.hp2
HG03239.hp2
HG03831.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+40486_355+4048
others(6): Show 
c.355+40486_355+40487delTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105748116
chr7:105748116 CAAAAAA
CAAAAAA
 C
C
 22 a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0082
others(19): Show 
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0082
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0187
a0001c0001t0003g0235
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0006g0024
a0001c0001t0006g0197
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0020g0120
a0001c0001t0024g0077
a0001c0001t0028g0114
a0002c0002t0030g0212
a0007c0009t0007g0096
 22 HG00673.hp1
HG00738.hp1
HG01168.hp1
others(19): Show 
HG00673.hp1
HG00738.hp1
HG01168.hp1
HG01192.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02129.hp1
HG02300.hp2
HG02559.hp2
HG02630.hp2
HG02723.hp1
HG03130.hp1
HG03471.hp2
HG04199.hp2
NA18957.hp2
NA18971.hp1
NA18994.hp2
NA19043.hp1
 intron_variant MODIFIER c.355+40482_355+4048
others(10): Show 
c.355+40482_355+40487delTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105748116
chr7:105748801 C
C
 G
G
 1 a0002c0002t0033g0221
a0002c0002t0033g0221
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.355+39803G>C
c.355+39803G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105748801
chr7:105749031 G
G
 A
A
 5 a0001c0001t0001g0201
a0001c0001t0003g0071
a0001c0001t0052g0133
others(2): Show 
a0001c0001t0001g0201
a0001c0001t0003g0071
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0005t0007g0209
 5 HG01884.hp2
HG01891.hp1
HG02647.hp2
others(2): Show 
HG01884.hp2
HG01891.hp1
HG02647.hp2
HG03471.hp1
HG03516.hp2
 intron_variant MODIFIER c.355+39573C>T
c.355+39573C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749031
chr7:105749107 T
T
 C
C
 4 a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
others(1): Show 
a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
a0001c0001t0058g0018
 4 HG01261.hp2
HG02602.hp1
HG03831.hp1
others(1): Show 
HG01261.hp2
HG02602.hp1
HG03831.hp1
NA19088.hp2
 intron_variant MODIFIER c.355+39497A>G
c.355+39497A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749107
chr7:105749109 T
T
 A
A
 4 a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
others(1): Show 
a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
a0001c0001t0058g0018
 4 HG01261.hp2
HG02602.hp1
HG03831.hp1
others(1): Show 
HG01261.hp2
HG02602.hp1
HG03831.hp1
NA19088.hp2
 intron_variant MODIFIER c.355+39495A>T
c.355+39495A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749109
chr7:105749110 T
T
 A
A
 4 a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
others(1): Show 
a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
a0001c0001t0058g0018
 4 HG01261.hp2
HG02602.hp1
HG03831.hp1
others(1): Show 
HG01261.hp2
HG02602.hp1
HG03831.hp1
NA19088.hp2
 intron_variant MODIFIER c.355+39494A>T
c.355+39494A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749110
chr7:105749112 G
G
 A
A
 4 a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
others(1): Show 
a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
a0001c0001t0058g0018
 4 HG01261.hp2
HG02602.hp1
HG03831.hp1
others(1): Show 
HG01261.hp2
HG02602.hp1
HG03831.hp1
NA19088.hp2
 intron_variant MODIFIER c.355+39492C>T
c.355+39492C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749112
chr7:105749113 ACTG
ACTG
 A
A
 4 a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
others(1): Show 
a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
a0001c0001t0058g0018
 4 HG01261.hp2
HG02602.hp1
HG03831.hp1
others(1): Show 
HG01261.hp2
HG02602.hp1
HG03831.hp1
NA19088.hp2
 intron_variant MODIFIER c.355+39488_355+3949
others(7): Show 
c.355+39488_355+39490delCAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749113
chr7:105749118 G
G
 T
T
 4 a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
others(1): Show 
a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
a0001c0001t0058g0018
 4 HG01261.hp2
HG02602.hp1
HG03831.hp1
others(1): Show 
HG01261.hp2
HG02602.hp1
HG03831.hp1
NA19088.hp2
 intron_variant MODIFIER c.355+39486C>A
c.355+39486C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749118
chr7:105749121 TAATGTTA
others(1501): Show 
TAATGTTAATATGAGTTTAGATTCTGTCTGCACAGGCCAAGGGGTTGGTG
GAGAAATGTTTGGAAGTGTTTTGGGTTTCAGAGGAAATTCCTTGCAGGAT
TAAAGAATTTTCTCTGGATAGCCCTCAAAATAGAGTTTAGGGTATAGTTA
CAGTACAGGAGAGTAAGGAAGGGTAAAATCATCATACTGCAAGTCAAACA
AGAATGAGAAAGAAAGTGGGCTTTTCAAAAGAAGTTTGACAATATCTTTA
GTCCTTAACCAATGATTTTAAGTCTAATTCTACCTTTATTTTGAAAGCTC
AAGAGTTCTAGTCTTCGGAGTTGTCATTTGGGGGTGGAGATAGGGGCAGG
ATGTACACACAGTTGTCACCCTGAGAAAAGGGGCCACTAAGAGAGGTTGT
ATGGGACACACAAGAATCACCTGAACCCAGGAGGCAGAGGTTGCAGTGAG
GTGAGATTGAGCCACTGTCCTCCAGCCTGGGCAACAGAGTGAGACTCTGT
CTCAAAAAAAAAAAAAGAGTGAGAGGTTGTATCCCTTAATATCCCTGGAT
TAATATCTTTCATATCCTTGGATATTAAAGAAAGTAGTAGACAGCATTAG
GTTGATTTCATCTGGGCAGCACCAGATCACTTGTGGGGCTTCTGACTTGG
CAGGTCTCAGGTAGGGTCTCCACTTCTTTATTTCAAAAAGCTTCAGAGAT
GACTGTAAATCAACACAATTGTCTGTTGTCACCCCTGCTTCCTTCTCCCC
CAGGTCCAAACCCACCGTTGAGGATCACTGTTGGCTGTATTCTGGGCACT
TACTGCCTAAAAATGGACTAGTCTGTGAAGGTTCTTCCTGCACTATGCAC
CTGCACGATACACCTAAAATCTTAATTTGCCTTTAACAGCTGTACCCCAC
AGGAACCTATGAGGTCTTCAAAATGGGAGAACTTGGGATTGACTTTTTTC
TTCCCACTCATTTAAGTGCACTTTGAACCATGTGTAGACTGCAGGCACTT
TAGAAAGAAGCTGAGACTGAAAAGTCTGTCTTGACTTCCAAGGAAGGGTA
AGTCCCTGTTTGCAGCCCCGGGGCCTGCTCATTGTTAAGTTTGTGTTTCA
AACAACATACTTTGTGAGCAGTTAAATATGATGGATAATATAATTTTAGA
TTTATAATTGCTCTTTTTTTTTTTTGAGACAGGATCTCACTCTATTGCCC
GGGCTGAGTGCAGTGATGAGATCTCAGCTCACTGCAGCCTTGACCTCCCG
GCTCAAGTGATCCTCCTGCCTCAGTTTCTTGAGTAGCTAGGACTACAGGC
ACGTGTCACCACACCTGGCTAATTTTTGATTGTTTTGTAGAGACAAGGTC
TGCTATGTTGCCTAGGCTGGTTTTGAACTCCCTCCTTGGCCTCTCAAAGT
GTTGGGATTACAGGTGTGAGCCACCAATCCCAGCACTTTGGGAGGCAGAG
GCGGGTGCATCGCCTGAGGTCAGGCGTTCGAGACCAGCCTGACCAACATG
GTGAAACCC
 T
T
 4 a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
others(1): Show 
a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
a0001c0001t0058g0018
 4 HG01261.hp2
HG02602.hp1
HG03831.hp1
others(1): Show 
HG01261.hp2
HG02602.hp1
HG03831.hp1
NA19088.hp2
 intron_variant MODIFIER c.355+37975_355+3948
others(4): Show 
c.355+37975_355+39482del
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749121
chr7:105749204 G
G
 A
A
 1 a0004c0013t0036g0107
a0004c0013t0036g0107
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.355+39400C>T
c.355+39400C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749204
chr7:105749301 A
A
 G
G
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.355+39303T>C
c.355+39303T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749301
chr7:105749414 A
A
 G
G
 5 a0001c0001t0004g0219
a0001c0001t0016g0069
a0001c0001t0028g0114
others(2): Show 
a0001c0001t0004g0219
a0001c0001t0016g0069
a0001c0001t0028g0114
a0002c0002t0030g0212
a0007c0009t0007g0096
 5 HG02630.hp2
HG02723.hp1
HG03130.hp1
others(2): Show 
HG02630.hp2
HG02723.hp1
HG03130.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.355+39190T>C
c.355+39190T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749414
chr7:105749503 G
G
 A
A
 8 a0001c0001t0003g0070
a0001c0001t0004g0137
a0001c0001t0007g0202
others(5): Show 
a0001c0001t0003g0070
a0001c0001t0004g0137
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0021g0184
a0002c0002t0022g0066
a0002c0002t0059g0200
 8 HG02559.hp1
HG02895.hp1
HG02965.hp2
others(5): Show 
HG02559.hp1
HG02895.hp1
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03516.hp1
HG03579.hp1
NA19240.hp1
 intron_variant MODIFIER c.355+39101C>T
c.355+39101C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749503
chr7:105749623 C
C
 CA
CA
 46 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(43): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0044
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0186
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0044g0110
a0001c0001t0049g0148
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0003c0003t0005g0079
a0003c0003t0020g0199
a0005c0011t0008g0092
 46 HG00735.hp2
HG01099.hp1
HG01109.hp1
others(43): Show 
HG00735.hp2
HG01099.hp1
HG01109.hp1
HG01192.hp2
HG01346.hp1
HG01358.hp1
HG01978.hp2
HG02015.hp1
HG02055.hp2
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02622.hp2
HG02735.hp1
HG02965.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18954.hp1
NA18970.hp2
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19066.hp1
NA19086.hp1
NA20129.hp2
 intron_variant MODIFIER c.355+38980dupT
c.355+38980dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749623
chr7:105749747 TC
TC
 T
T
 80 a0001c0001t0001g0059
a0001c0001t0001g0080
a0001c0001t0001g0081
others(77): Show 
a0001c0001t0001g0059
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0102
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0084
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0011g0152
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0057g0229
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0008t0014g0165
a0002c0002t0022g0220
a0004c0013t0036g0107
 80 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(77): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02145.hp2
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG03209.hp1
HG03209.hp2
HG03490.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19003.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+38856delG
c.355+38856delG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749747
chr7:105749937 A
A
 G
G
 1 a0001c0001t0018g0058
a0001c0001t0018g0058
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.355+38667T>C
c.355+38667T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105749937
chr7:105750113 A
A
 G
G
 33 a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0205
others(30): Show 
a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0003g0071
a0001c0001t0004g0084
a0001c0001t0006g0022
a0001c0001t0006g0197
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0010g0051
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0021g0184
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0048g0132
a0001c0001t0061g0036
a0004c0013t0036g0107
 33 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(30): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00642.hp2
HG00738.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01433.hp1
HG01516.hp1
HG02148.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02738.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03490.hp1
HG03942.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+38491T>C
c.355+38491T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105750113
chr7:105750121 T
T
 C
C
 1 a0001c0001t0004g0198
a0001c0001t0004g0198
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.355+38483A>G
c.355+38483A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105750121
chr7:105750190 G
G
 A
A
 85 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
others(82): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0225
a0001c0001t0002g0042
a0001c0001t0002g0186
a0001c0001t0002g0239
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0137
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0014g0083
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0021g0227
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0033g0040
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 85 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(82): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG01069.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01978.hp2
HG02027.hp2
HG02083.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp1
NA19000.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19066.hp1
NA19074.hp1
NA19085.hp2
NA19086.hp1
NA20129.hp1
 intron_variant MODIFIER c.355+38414C>T
c.355+38414C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105750190
chr7:105750204 G
G
 A
A
 148 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
others(145): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 148 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(145): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp1
NA18989.hp2
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+38400C>T
c.355+38400C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105750204
chr7:105750283 C
C
 CT
CT
 76 a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
others(73): Show 
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0103
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0115
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0059g0200
a0006c0010t0031g0204
 76 HG00323.hp1
HG00558.hp2
HG00735.hp1
others(73): Show 
HG00323.hp1
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
NA18906.hp1
NA18943.hp2
NA18957.hp1
NA18962.hp1
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+38320dupA
c.355+38320dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105750283
chr7:105750630 C
C
 T
T
 4 a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
others(1): Show 
a0001c0001t0002g0142
a0001c0001t0012g0064
a0001c0001t0019g0063
a0001c0001t0058g0018
 4 HG01261.hp2
HG02602.hp1
HG03831.hp1
others(1): Show 
HG01261.hp2
HG02602.hp1
HG03831.hp1
NA19088.hp2
 intron_variant MODIFIER c.355+37974G>A
c.355+37974G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105750630
chr7:105750759 C
C
 A
A
 61 a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
others(58): Show 
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0167
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0004g0198
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0103
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0029g0215
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0005t0007g0209
a0002c0002t0022g0220
a0006c0010t0031g0204
 61 HG00558.hp2
HG00735.hp1
HG00741.hp1
others(58): Show 
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01168.hp2
HG01169.hp1
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02451.hp1
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02896.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03831.hp1
HG04199.hp1
HG04199.hp2
NA18943.hp2
NA18957.hp1
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.355+37845G>T
c.355+37845G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105750759
chr7:105750808 AAAC
AAAC
 A
A
 3 a0001c0001t0002g0010
a0001c0001t0002g0231
a0001c0001t0008g0175
a0001c0001t0002g0010
a0001c0001t0002g0231
a0001c0001t0008g0175
 3 HG01433.hp2
HG01496.hp2
NA19067.hp2
HG01433.hp2
HG01496.hp2
NA19067.hp2
 intron_variant MODIFIER c.355+37793_355+3779
others(7): Show 
c.355+37793_355+37795delGTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105750808
chr7:105750956 G
G
 A
A
 1 a0001c0001t0010g0032
a0001c0001t0010g0032
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.355+37648C>T
c.355+37648C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105750956
chr7:105751416 G
G
 A
A
 2 a0001c0001t0050g0155
a0001c0006t0001g0112
a0001c0001t0050g0155
a0001c0006t0001g0112
 2 HG02602.hp2
HG03491.hp2
HG02602.hp2
HG03491.hp2
 intron_variant MODIFIER c.355+37188C>T
c.355+37188C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105751416
chr7:105751458 C
C
 G
G
 1 a0001c0001t0035g0151
a0001c0001t0035g0151
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+37146G>C
c.355+37146G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105751458
chr7:105752201 T
T
 A
A
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+36403A>T
c.355+36403A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105752201
chr7:105752372 G
G
 A
A
 3 a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
 3 HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
 intron_variant MODIFIER c.355+36232C>T
c.355+36232C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105752372
chr7:105752531 C
C
 A
A
 1 a0001c0001t0002g0153
a0001c0001t0002g0153
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.355+36073G>T
c.355+36073G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105752531
chr7:105752567 T
T
 C
C
 27 a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0108
others(24): Show 
a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0108
a0001c0001t0002g0239
a0001c0001t0003g0071
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0005g0182
a0001c0001t0006g0022
a0001c0001t0006g0197
a0001c0001t0009g0013
a0001c0001t0010g0051
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0017g0195
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0033g0040
a0001c0001t0048g0132
a0001c0001t0061g0036
a0004c0013t0036g0107
 27 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(24): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00738.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01261.hp1
HG01433.hp1
HG01516.hp1
HG02148.hp2
HG02300.hp2
HG02523.hp2
HG02559.hp2
HG02738.hp1
HG03209.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03491.hp1
HG03942.hp2
 intron_variant MODIFIER c.355+36037A>G
c.355+36037A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105752567
chr7:105752833 C
C
 A
A
 1 a0001c0001t0004g0203
a0001c0001t0004g0203
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.355+35771G>T
c.355+35771G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105752833
chr7:105752875 C
C
 A
A
 3 a0001c0001t0034g0068
a0001c0001t0039g0180
a0002c0002t0032g0149
a0001c0001t0034g0068
a0001c0001t0039g0180
a0002c0002t0032g0149
 3 HG02572.hp1
HG02818.hp2
HG03098.hp1
HG02572.hp1
HG02818.hp2
HG03098.hp1
 intron_variant MODIFIER c.355+35729G>T
c.355+35729G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105752875
chr7:105753160 G
G
 A
A
 3 a0001c0001t0017g0194
a0001c0001t0021g0130
a0001c0001t0055g0252
a0001c0001t0017g0194
a0001c0001t0021g0130
a0001c0001t0055g0252
 3 HG01074.hp1
HG01884.hp1
NA19240.hp2
HG01074.hp1
HG01884.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+35444C>T
c.355+35444C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105753160
chr7:105753310 C
C
 T
T
 233 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(230): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 233 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(230): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+35294G>A
c.355+35294G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105753310
chr7:105753327 G
G
 A
A
 3 a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0033g0221
 3 HG01074.hp2
HG02896.hp2
HG03540.hp2
HG01074.hp2
HG02896.hp2
HG03540.hp2
 intron_variant MODIFIER c.355+35277C>T
c.355+35277C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105753327
chr7:105753486 T
T
 G
G
 9 a0001c0001t0001g0026
a0001c0001t0002g0042
a0001c0001t0005g0014
others(6): Show 
a0001c0001t0001g0026
a0001c0001t0002g0042
a0001c0001t0005g0014
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0060g0192
a0001c0008t0014g0165
 9 HG02145.hp1
HG02155.hp1
HG03688.hp1
others(6): Show 
HG02145.hp1
HG02155.hp1
HG03688.hp1
NA18948.hp2
NA18950.hp1
NA18989.hp2
NA19000.hp1
NA19074.hp1
NA19085.hp2
 intron_variant MODIFIER c.355+35118A>C
c.355+35118A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105753486
chr7:105753974 C
C
 CG
CG
 69 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0033
others(66): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0062g0007
a0001c0004t0010g0154
a0001c0007t0038g0158
 69 HG00558.hp1
HG00642.hp1
HG00673.hp2
others(66): Show 
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01081.hp1
HG01109.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp2
HG01515.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02132.hp1
HG02155.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02735.hp2
HG02738.hp2
HG02895.hp2
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03490.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18948.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+34629_355+3463
others(5): Show 
c.355+34629_355+34630insC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105753974
chr7:105754043 G
G
 A
A
 59 a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
others(56): Show 
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0142
a0001c0001t0002g0167
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0004g0198
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0103
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0029g0215
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0005t0007g0209
a0002c0002t0022g0220
a0006c0010t0031g0204
 59 HG00558.hp2
HG00735.hp1
HG00741.hp1
others(56): Show 
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02451.hp1
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02723.hp2
HG02818.hp1
HG02896.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03831.hp1
HG04199.hp1
HG04199.hp2
NA18522.hp2
NA18943.hp2
NA18957.hp1
NA18989.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+34561C>T
c.355+34561C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105754043
chr7:105754063 T
T
 C
C
 8 a0001c0001t0001g0201
a0001c0001t0003g0070
a0001c0001t0004g0137
others(5): Show 
a0001c0001t0001g0201
a0001c0001t0003g0070
a0001c0001t0004g0137
a0001c0001t0007g0217
a0001c0001t0016g0139
a0001c0001t0046g0138
a0002c0002t0022g0066
a0002c0002t0059g0200
 8 HG02559.hp1
HG02647.hp2
HG02965.hp2
others(5): Show 
HG02559.hp1
HG02647.hp2
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03579.hp1
NA18906.hp1
NA20129.hp1
 intron_variant MODIFIER c.355+34541A>G
c.355+34541A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105754063
chr7:105754096 C
C
 T
T
 45 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0044
others(42): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0044
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0004g0039
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0044g0110
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0030g0212
a0002c0002t0032g0149
a0003c0003t0005g0079
a0003c0003t0020g0199
a0005c0011t0008g0092
a0007c0009t0007g0096
 45 HG00735.hp2
HG01099.hp1
HG01109.hp1
others(42): Show 
HG00735.hp2
HG01099.hp1
HG01109.hp1
HG01192.hp2
HG01346.hp1
HG01358.hp1
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02135.hp2
HG02148.hp1
HG02165.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02735.hp1
HG02818.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18995.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19066.hp1
NA19086.hp1
NA20129.hp2
 intron_variant MODIFIER c.355+34508G>A
c.355+34508G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105754096
chr7:105754101 C
C
 A
A
 2 a0001c0001t0001g0214
a0001c0001t0004g0203
a0001c0001t0001g0214
a0001c0001t0004g0203
 2 HG02622.hp1
HG06807.hp1
HG02622.hp1
HG06807.hp1
 intron_variant MODIFIER c.355+34503G>T
c.355+34503G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105754101
chr7:105754400 T
T
 C
C
 55 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
others(52): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0004g0039
a0001c0001t0005g0014
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0044g0110
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0212
a0002c0002t0032g0149
a0003c0003t0005g0079
a0003c0003t0020g0199
a0005c0011t0008g0092
a0007c0009t0007g0096
 55 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(52): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01109.hp1
HG01192.hp2
HG01346.hp1
HG01358.hp1
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02735.hp1
HG02818.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG06807.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp1
NA19000.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19066.hp1
NA19074.hp1
NA19085.hp2
NA19086.hp1
NA20129.hp2
 intron_variant MODIFIER c.355+34204A>G
c.355+34204A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105754400
chr7:105754401 CT
CT
 C
C
 5 a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0007g0202
others(2): Show 
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0007g0202
a0001c0001t0008g0015
a0002c0002t0030g0208
 5 HG01069.hp2
HG02895.hp1
HG02896.hp2
others(2): Show 
HG01069.hp2
HG02895.hp1
HG02896.hp2
HG03239.hp1
NA18962.hp2
 intron_variant MODIFIER c.355+34202delA
c.355+34202delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105754401
chr7:105754534 C
C
 T
T
 1 a0001c0001t0018g0058
a0001c0001t0018g0058
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.355+34070G>A
c.355+34070G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105754534
chr7:105754569 T
T
 G
G
 68 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
others(65): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0201
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0003g0070
a0001c0001t0004g0039
a0001c0001t0004g0137
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0005c0011t0008g0092
a0007c0009t0007g0096
 68 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(65): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01109.hp1
HG01192.hp2
HG01346.hp1
HG01358.hp1
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02818.hp2
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG06807.hp2
NA18906.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp1
NA19000.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19066.hp1
NA19074.hp1
NA19085.hp2
NA19086.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.355+34035A>C
c.355+34035A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105754569
chr7:105754570 C
C
 A
A
 68 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
others(65): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0201
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0003g0070
a0001c0001t0004g0039
a0001c0001t0004g0137
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0005c0011t0008g0092
a0007c0009t0007g0096
 68 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(65): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01109.hp1
HG01192.hp2
HG01346.hp1
HG01358.hp1
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02818.hp2
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG06807.hp2
NA18906.hp1
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp1
NA19000.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19066.hp1
NA19074.hp1
NA19085.hp2
NA19086.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.355+34034G>T
c.355+34034G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105754570
chr7:105755047 G
G
 GA
GA
 76 a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
others(73): Show 
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0167
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0103
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0059g0200
a0006c0010t0031g0204
 76 HG00558.hp2
HG00735.hp1
HG00741.hp1
others(73): Show 
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18957.hp1
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+33556dupT
c.355+33556dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105755047
chr7:105755219 G
G
 GA
GA
 75 a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
others(72): Show 
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0167
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0103
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0059g0200
a0006c0010t0031g0204
 75 HG00558.hp2
HG00735.hp1
HG00741.hp1
others(72): Show 
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18957.hp1
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+33384dupT
c.355+33384dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105755219
chr7:105755385 C
C
 T
T
 75 a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
others(72): Show 
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0167
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0103
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0059g0200
a0006c0010t0031g0204
 75 HG00558.hp2
HG00735.hp1
HG00741.hp1
others(72): Show 
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18957.hp1
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+33219G>A
c.355+33219G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105755385
chr7:105755514 T
T
 A
A
 75 a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
others(72): Show 
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0167
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0103
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0059g0200
a0006c0010t0031g0204
 75 HG00558.hp2
HG00735.hp1
HG00741.hp1
others(72): Show 
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18957.hp1
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+33090A>T
c.355+33090A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105755514
chr7:105755530 G
G
 A
A
 57 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
others(54): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0004g0039
a0001c0001t0005g0014
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0058
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0044g0110
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0212
a0002c0002t0032g0149
a0003c0003t0005g0079
a0003c0003t0020g0199
a0005c0011t0008g0092
a0007c0009t0007g0096
 57 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(54): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01109.hp1
HG01192.hp2
HG01346.hp1
HG01358.hp1
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02735.hp1
HG02818.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG06807.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp1
NA19000.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19066.hp1
NA19074.hp1
NA19085.hp2
NA19086.hp1
NA20129.hp2
 intron_variant MODIFIER c.355+33074C>T
c.355+33074C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105755530
chr7:105755534 G
G
 A
A
 73 a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
others(70): Show 
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0142
a0001c0001t0002g0167
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0103
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0059g0200
a0006c0010t0031g0204
 73 HG00558.hp2
HG00735.hp1
HG00741.hp1
others(70): Show 
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18943.hp2
NA18957.hp1
NA18989.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+33070C>T
c.355+33070C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105755534
chr7:105755556 G
G
 A
A
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.355+33048C>T
c.355+33048C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105755556
chr7:105755690 T
T
 C
C
 9 a0001c0001t0001g0201
a0001c0001t0003g0070
a0001c0001t0004g0137
others(6): Show 
a0001c0001t0001g0201
a0001c0001t0003g0070
a0001c0001t0004g0137
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0016g0139
a0001c0001t0046g0138
a0002c0002t0022g0066
a0002c0002t0059g0200
 9 HG02559.hp1
HG02647.hp2
HG02895.hp1
others(6): Show 
HG02559.hp1
HG02647.hp2
HG02895.hp1
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03579.hp1
NA18906.hp1
NA20129.hp1
 intron_variant MODIFIER c.355+32914A>G
c.355+32914A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105755690
chr7:105755804 G
G
 A
A
 3 a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0033g0221
 3 HG01074.hp2
HG02896.hp2
HG03540.hp2
HG01074.hp2
HG02896.hp2
HG03540.hp2
 intron_variant MODIFIER c.355+32800C>T
c.355+32800C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105755804
chr7:105755887 C
C
 T
T
 29 a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0108
others(26): Show 
a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0108
a0001c0001t0002g0239
a0001c0001t0003g0071
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0005g0182
a0001c0001t0006g0022
a0001c0001t0006g0197
a0001c0001t0009g0013
a0001c0001t0010g0051
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0014g0083
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0017g0195
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0033g0040
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0061g0036
a0004c0013t0036g0107
 29 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(26): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00738.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01261.hp1
HG01433.hp1
HG01516.hp1
HG02148.hp2
HG02300.hp2
HG02523.hp2
HG02559.hp2
HG02738.hp1
HG02895.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03491.hp1
HG03942.hp2
 intron_variant MODIFIER c.355+32717G>A
c.355+32717G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105755887
chr7:105755948 T
T
 C
C
 1 a0001c0001t0003g0147
a0001c0001t0003g0147
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.355+32656A>G
c.355+32656A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105755948
chr7:105756002 G
G
 T
T
 1 a0001c0001t0003g0150
a0001c0001t0003g0150
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.355+32602C>A
c.355+32602C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105756002
chr7:105756044 T
T
 A
A
 1 a0001c0001t0034g0068
a0001c0001t0034g0068
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.355+32560A>T
c.355+32560A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105756044
chr7:105756104 T
T
 C
C
 75 a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
others(72): Show 
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0167
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0103
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0059g0200
a0006c0010t0031g0204
 75 HG00558.hp2
HG00735.hp1
HG00741.hp1
others(72): Show 
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18957.hp1
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+32500A>G
c.355+32500A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105756104
chr7:105756214 G
G
 A
A
 9 a0001c0001t0001g0026
a0001c0001t0002g0042
a0001c0001t0005g0014
others(6): Show 
a0001c0001t0001g0026
a0001c0001t0002g0042
a0001c0001t0005g0014
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0060g0192
a0001c0008t0014g0165
 9 HG02145.hp1
HG02155.hp1
HG03688.hp1
others(6): Show 
HG02145.hp1
HG02155.hp1
HG03688.hp1
NA18948.hp2
NA18950.hp1
NA18989.hp2
NA19000.hp1
NA19074.hp1
NA19085.hp2
 intron_variant MODIFIER c.355+32390C>T
c.355+32390C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105756214
chr7:105756263 CTG
CTG
 C
C
 64 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0033
others(61): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0113
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0007t0038g0158
 64 HG00558.hp1
HG00642.hp1
HG00738.hp2
others(61): Show 
HG00558.hp1
HG00642.hp1
HG00738.hp2
HG01081.hp1
HG01109.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp2
HG01515.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02132.hp1
HG02155.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02735.hp2
HG02738.hp2
HG03098.hp2
HG03209.hp2
HG03239.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18948.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+32339_355+3234
others(6): Show 
c.355+32339_355+32340delCA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105756263
chr7:105756292 C
C
 T
T
 75 a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
others(72): Show 
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0167
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0219
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0103
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0059g0200
a0006c0010t0031g0204
 75 HG00558.hp2
HG00735.hp1
HG00741.hp1
others(72): Show 
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03831.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18957.hp1
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+32312G>A
c.355+32312G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105756292
chr7:105756297 C
C
 T
T
 1 a0001c0001t0018g0058
a0001c0001t0018g0058
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.355+32307G>A
c.355+32307G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105756297
chr7:105756373 A
A
 T
T
 60 a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
others(57): Show 
a0001c0001t0001g0102
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0167
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0004g0198
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0103
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0029g0215
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0005t0007g0209
a0002c0002t0022g0220
a0006c0010t0031g0204
 60 HG00558.hp2
HG00735.hp1
HG00741.hp1
others(57): Show 
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02451.hp1
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02723.hp2
HG02818.hp1
HG02896.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03831.hp1
HG04199.hp1
HG04199.hp2
NA18943.hp1
NA18943.hp2
NA18957.hp1
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19060.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+32231T>A
c.355+32231T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105756373
chr7:105756391 A
A
 G
G
 4 a0001c0001t0008g0216
a0001c0001t0017g0194
a0001c0001t0021g0130
others(1): Show 
a0001c0001t0008g0216
a0001c0001t0017g0194
a0001c0001t0021g0130
a0001c0001t0055g0252
 4 HG01074.hp1
HG01884.hp1
HG02647.hp1
others(1): Show 
HG01074.hp1
HG01884.hp1
HG02647.hp1
NA19240.hp2
 intron_variant MODIFIER c.355+32213T>C
c.355+32213T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105756391
chr7:105756415 T
T
 C
C
 60 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
others(57): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0225
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0004g0039
a0001c0001t0005g0014
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0013g0129
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0021g0227
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0044g0110
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0060g0192
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0003c0003t0005g0079
a0003c0003t0020g0199
a0005c0011t0008g0092
a0007c0009t0007g0096
 60 HG00673.hp2
HG00735.hp2
HG01074.hp2
others(57): Show 
HG00673.hp2
HG00735.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp1
HG01192.hp2
HG01346.hp1
HG01358.hp1
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02735.hp1
HG02818.hp2
HG02896.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG06807.hp2
NA18522.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp1
NA19000.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp2
NA19066.hp1
NA19074.hp1
NA19085.hp2
NA19086.hp1
NA20129.hp2
 intron_variant MODIFIER c.355+32189A>G
c.355+32189A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105756415
chr7:105756531 T
T
 C
C
 1 a0001c0001t0021g0184
a0001c0001t0021g0184
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.355+32073A>G
c.355+32073A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105756531
chr7:105756707 C
C
 T
T
 5 a0001c0001t0001g0119
a0001c0001t0015g0125
a0001c0001t0015g0140
others(2): Show 
a0001c0001t0001g0119
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0020g0120
a0001c0001t0037g0065
 5 HG01168.hp1
HG01192.hp1
HG01515.hp2
others(2): Show 
HG01168.hp1
HG01192.hp1
HG01515.hp2
HG01517.hp2
HG02280.hp1
 intron_variant MODIFIER c.355+31897G>A
c.355+31897G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105756707
chr7:105756708 G
G
 A
A
 33 a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0108
others(30): Show 
a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0108
a0001c0001t0002g0239
a0001c0001t0003g0071
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0005g0182
a0001c0001t0006g0022
a0001c0001t0006g0197
a0001c0001t0009g0013
a0001c0001t0010g0051
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0020g0169
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0001t0061g0036
a0004c0013t0036g0107
 33 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(30): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00738.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01433.hp1
HG01516.hp1
HG02148.hp2
HG02300.hp2
HG02523.hp2
HG02559.hp2
HG02738.hp1
HG02895.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03491.hp1
HG03831.hp2
HG03942.hp2
 intron_variant MODIFIER c.355+31896C>T
c.355+31896C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105756708
chr7:105756906 T
T
 C
C
 1 a0001c0001t0021g0227
a0001c0001t0021g0227
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.355+31698A>G
c.355+31698A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105756906
chr7:105757036 A
A
 G
G
 65 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0033
others(62): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0030
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0007t0038g0158
 65 HG00558.hp1
HG00642.hp1
HG00673.hp2
others(62): Show 
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01081.hp1
HG01109.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp2
HG01515.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02132.hp1
HG02155.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02735.hp2
HG02738.hp2
HG03098.hp2
HG03239.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18948.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+31568T>C
c.355+31568T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105757036
chr7:105757041 A
A
 C
C
 202 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(199): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 202 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(199): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+31563T>G
c.355+31563T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105757041
chr7:105757078 C
C
 T
T
 1 a0001c0001t0002g0042
a0001c0001t0002g0042
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.355+31526G>A
c.355+31526G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105757078
chr7:105757131 G
G
 A
A
 25 a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0108
others(22): Show 
a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0108
a0001c0001t0002g0239
a0001c0001t0003g0071
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0005g0182
a0001c0001t0009g0013
a0001c0001t0010g0051
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0236
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0017g0195
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0033g0040
a0001c0001t0061g0036
a0004c0013t0036g0107
 25 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(22): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00738.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp1
HG01261.hp1
HG01433.hp1
HG01516.hp1
HG02148.hp2
HG02300.hp2
HG03209.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03491.hp1
HG03831.hp2
HG03942.hp2
 intron_variant MODIFIER c.355+31473C>T
c.355+31473C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105757131
chr7:105757208 A
A
 T
T
 72 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0033
others(69): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0248
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0197
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0113
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0007t0038g0158
a0006c0010t0031g0204
 72 HG00558.hp1
HG00642.hp1
HG00673.hp2
others(69): Show 
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01081.hp1
HG01109.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp2
HG01515.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02132.hp1
HG02155.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02559.hp2
HG02735.hp2
HG02738.hp2
HG03098.hp2
HG03209.hp2
HG03239.hp1
HG03579.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp2
NA18948.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+31396T>A
c.355+31396T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105757208
chr7:105757210 A
A
 C
C
 72 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0033
others(69): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0248
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0197
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0113
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0007t0038g0158
a0006c0010t0031g0204
 72 HG00558.hp1
HG00642.hp1
HG00673.hp2
others(69): Show 
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01081.hp1
HG01109.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp2
HG01515.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02132.hp1
HG02155.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02559.hp2
HG02735.hp2
HG02738.hp2
HG03098.hp2
HG03209.hp2
HG03239.hp1
HG03579.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp2
NA18948.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+31394T>G
c.355+31394T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105757210
chr7:105757213 TCAGGTTT
others(10): Show 
TCAGGTTTGTGAGGCCTC
 T
T
 72 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0033
others(69): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0248
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0197
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0113
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0029g0072
a0001c0001t0040g0207
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0007t0038g0158
a0006c0010t0031g0204
 72 HG00558.hp1
HG00642.hp1
HG00673.hp2
others(69): Show 
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01081.hp1
HG01109.hp2
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp2
HG01515.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02132.hp1
HG02155.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02559.hp2
HG02735.hp2
HG02738.hp2
HG03098.hp2
HG03209.hp2
HG03239.hp1
HG03579.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp2
NA18948.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+31374_355+3139
others(21): Show 
c.355+31374_355+31390delGAGGCCTCACAAACCTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105757213
chr7:105757533 C
C
 CT
CT
 9 a0001c0001t0001g0026
a0001c0001t0005g0014
a0001c0001t0005g0206
others(6): Show 
a0001c0001t0001g0026
a0001c0001t0005g0014
a0001c0001t0005g0206
a0001c0001t0006g0022
a0001c0001t0010g0095
a0001c0001t0013g0156
a0001c0001t0017g0113
a0001c0001t0056g0210
a0006c0010t0031g0204
 9 HG02055.hp2
HG02155.hp1
HG02738.hp1
others(6): Show 
HG02055.hp2
HG02155.hp1
HG02738.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp2
HG03579.hp2
HG03688.hp1
NA19000.hp1
 intron_variant MODIFIER c.355+31070dupA
c.355+31070dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105757533
chr7:105757578 A
A
 AT
AT
 5 a0001c0001t0006g0022
a0001c0001t0006g0116
a0001c0001t0018g0058
others(2): Show 
a0001c0001t0006g0022
a0001c0001t0006g0116
a0001c0001t0018g0058
a0001c0001t0021g0227
a0001c0001t0024g0250
 5 HG02056.hp1
HG02572.hp2
HG02622.hp2
others(2): Show 
HG02056.hp1
HG02572.hp2
HG02622.hp2
HG02738.hp1
NA19043.hp2
 intron_variant MODIFIER c.355+31025dupA
c.355+31025dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105757578
chr7:105757578 AT
AT
 A
A
 120 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(117): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0039
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0010g0228
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0005c0011t0008g0092
a0007c0009t0007g0096
 120 HG00735.hp1
HG00735.hp2
HG00741.hp1
others(117): Show 
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp1
NA18995.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19074.hp2
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.355+31025delA
c.355+31025delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105757578
chr7:105757672 G
G
 T
T
 1 a0001c0001t0028g0037
a0001c0001t0028g0037
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.355+30932C>A
c.355+30932C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105757672
chr7:105757726 G
G
 A
A
 4 a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0027g0134
others(1): Show 
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0027g0134
a0001c0001t0044g0110
 4 HG02965.hp1
HG03041.hp2
HG03130.hp2
others(1): Show 
HG02965.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
 intron_variant MODIFIER c.355+30878C>T
c.355+30878C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105757726
chr7:105757757 A
A
 AT
AT
 129 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(126): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0124
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0005c0011t0008g0092
a0007c0009t0007g0096
 129 HG00558.hp2
HG00735.hp1
HG00735.hp2
others(126): Show 
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18970.hp2
NA18971.hp1
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19066.hp1
NA19067.hp2
NA19074.hp2
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.355+30846dupA
c.355+30846dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105757757
chr7:105758034 GTTC
GTTC
 G
G
 56 a0001c0001t0001g0005
a0001c0001t0001g0106
a0001c0001t0002g0021
others(53): Show 
a0001c0001t0001g0005
a0001c0001t0001g0106
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0248
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0062g0007
 56 HG00558.hp1
HG00642.hp1
HG00673.hp2
others(53): Show 
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG01081.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01515.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02132.hp1
HG02300.hp1
HG02622.hp2
HG02738.hp2
NA18522.hp1
NA18943.hp2
NA18948.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+30567_355+3056
others(7): Show 
c.355+30567_355+30569delGAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758034
chr7:105758056 C
C
 T
T
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+30548G>A
c.355+30548G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758056
chr7:105758129 C
C
 T
T
 2 a0001c0001t0013g0156
a0001c0001t0056g0210
a0001c0001t0013g0156
a0001c0001t0056g0210
 2 HG02895.hp2
HG03225.hp2
HG02895.hp2
HG03225.hp2
 intron_variant MODIFIER c.355+30475G>A
c.355+30475G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758129
chr7:105758222 A
A
 G
G
 1 a0001c0001t0016g0136
a0001c0001t0016g0136
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.355+30382T>C
c.355+30382T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758222
chr7:105758277 T
T
 A
A
 10 a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0003g0070
others(7): Show 
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0003g0070
a0001c0001t0004g0137
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0016g0139
a0001c0001t0046g0138
a0001c0001t0060g0192
a0002c0002t0059g0200
 10 HG02145.hp1
HG02451.hp2
HG02559.hp1
others(7): Show 
HG02145.hp1
HG02451.hp2
HG02559.hp1
HG02647.hp2
HG02965.hp2
HG03041.hp1
HG03516.hp1
HG03579.hp1
NA18906.hp1
NA20129.hp1
 intron_variant MODIFIER c.355+30327A>T
c.355+30327A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758277
chr7:105758331 C
C
 G
G
 1 a0001c0001t0021g0130
a0001c0001t0021g0130
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+30273G>C
c.355+30273G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758331
chr7:105758346 G
G
 A
A
 2 a0001c0001t0002g0231
a0001c0001t0008g0175
a0001c0001t0002g0231
a0001c0001t0008g0175
 2 HG01433.hp2
NA19067.hp2
HG01433.hp2
NA19067.hp2
 intron_variant MODIFIER c.355+30258C>T
c.355+30258C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758346
chr7:105758356 A
A
 G
G
 2 a0001c0001t0034g0068
a0002c0002t0032g0149
a0001c0001t0034g0068
a0002c0002t0032g0149
 2 HG02572.hp1
HG02818.hp2
HG02572.hp1
HG02818.hp2
 intron_variant MODIFIER c.355+30248T>C
c.355+30248T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758356
chr7:105758411 G
G
 A
A
 1 a0001c0001t0018g0094
a0001c0001t0018g0094
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.355+30193C>T
c.355+30193C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758411
chr7:105758590 C
C
 T
T
 3 a0001c0001t0001g0181
a0001c0001t0052g0133
a0002c0002t0022g0220
a0001c0001t0001g0181
a0001c0001t0052g0133
a0002c0002t0022g0220
 3 HG02723.hp2
HG02818.hp1
HG03516.hp2
HG02723.hp2
HG02818.hp1
HG03516.hp2
 intron_variant MODIFIER c.355+30014G>A
c.355+30014G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758590
chr7:105758616 G
G
 A
A
 1 a0001c0001t0009g0020
a0001c0001t0009g0020
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.355+29988C>T
c.355+29988C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758616
chr7:105758648 G
G
 T
T
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.355+29956C>A
c.355+29956C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758648
chr7:105758680 G
G
 A
A
 155 a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0033
others(152): Show 
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0082
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0118
a0001c0001t0003g0238
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0093
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0061g0036
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 155 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(152): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp2
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp1
NA18945.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+29924C>T
c.355+29924C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758680
chr7:105758729 G
G
 C
C
 1 a0001c0001t0004g0128
a0001c0001t0004g0128
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.355+29875C>G
c.355+29875C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758729
chr7:105758802 C
C
 T
T
 1 a0003c0003t0005g0079
a0003c0003t0005g0079
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.355+29802G>A
c.355+29802G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758802
chr7:105758807 G
G
 A
A
 65 a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0082
others(62): Show 
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0048
a0001c0001t0002g0239
a0001c0001t0003g0070
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0010g0111
a0001c0001t0011g0101
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0195
a0001c0001t0019g0230
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0033g0040
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0061g0036
a0002c0002t0059g0200
a0006c0010t0031g0204
a0007c0009t0007g0096
 65 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(62): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01516.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03831.hp2
HG04199.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18950.hp2
NA19043.hp1
NA20129.hp1
 intron_variant MODIFIER c.355+29797C>T
c.355+29797C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758807
chr7:105758937 T
T
 A
A
 1 a0001c0001t0013g0243
a0001c0001t0013g0243
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.355+29667A>T
c.355+29667A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105758937
chr7:105759140 C
C
 CT
CT
 177 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(174): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0003c0003t0005g0079
a0003c0003t0020g0199
a0005c0011t0008g0092
a0006c0010t0031g0204
 177 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(174): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+29463dupA
c.355+29463dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759140
chr7:105759161 CT
CT
 C
C
 221 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(218): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 221 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(218): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+29442delA
c.355+29442delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759161
chr7:105759161 CTT
CTT
 C
C
 13 a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0048
others(10): Show 
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0048
a0001c0001t0002g0187
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0011g0101
a0001c0001t0014g0123
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0041g0196
 13 HG00673.hp1
HG01167.hp2
HG01516.hp1
others(10): Show 
HG00673.hp1
HG01167.hp2
HG01516.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02155.hp1
HG03688.hp1
HG04199.hp2
NA18945.hp2
NA18950.hp2
NA18994.hp2
NA19030.hp2
 intron_variant MODIFIER c.355+29441_355+2944
others(6): Show 
c.355+29441_355+29442delAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759161
chr7:105759204 C
C
 A
A
 67 a0001c0001t0001g0003
a0001c0001t0001g0078
a0001c0001t0001g0106
others(64): Show 
a0001c0001t0001g0003
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0008g0045
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0031g0172
a0001c0001t0043g0105
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0008t0014g0165
a0002c0002t0022g0220
 67 HG00642.hp1
HG00741.hp1
HG01081.hp1
others(64): Show 
HG00642.hp1
HG00741.hp1
HG01081.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02300.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG03239.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18970.hp1
NA18989.hp2
NA18995.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.355+29400G>T
c.355+29400G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759204
chr7:105759222 G
G
 A
A
 1 a0001c0001t0007g0217
a0001c0001t0007g0217
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.355+29382C>T
c.355+29382C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759222
chr7:105759394 T
T
 C
C
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.355+29210A>G
c.355+29210A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759394
chr7:105759413 G
G
 A
A
 2 a0001c0001t0006g0116
a0001c0001t0013g0156
a0001c0001t0006g0116
a0001c0001t0013g0156
 2 HG02895.hp2
NA19043.hp2
HG02895.hp2
NA19043.hp2
 intron_variant MODIFIER c.355+29191C>T
c.355+29191C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759413
chr7:105759449 A
A
 AGT
AGT
 3 a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
 3 HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
 intron_variant MODIFIER c.355+29153_355+2915
others(6): Show 
c.355+29153_355+29154dupAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759449
chr7:105759449 AGT
AGT
 A
A
 6 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0002g0188
others(3): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0002g0188
a0001c0001t0014g0166
a0001c0001t0018g0094
a0001c0007t0038g0158
 6 HG01516.hp2
HG01517.hp1
HG01943.hp2
others(3): Show 
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
NA19091.hp1
 intron_variant MODIFIER c.355+29153_355+2915
others(6): Show 
c.355+29153_355+29154delAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759449
chr7:105759449 AGTGT
AGTGT
 A
A
 7 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(4): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0021g0130
a0001c0001t0055g0252
a0001c0001t0062g0007
 7 HG01884.hp1
NA18971.hp2
NA18994.hp1
others(4): Show 
HG01884.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+29151_355+2915
others(8): Show 
c.355+29151_355+29154delACAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759449
chr7:105759449 AGTGTGTG
others(9): Show 
AGTGTGTGTGTGTGTGT
 A
A
 11 a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0003g0071
others(8): Show 
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0003g0071
a0001c0001t0007g0202
a0001c0001t0008g0216
a0001c0001t0010g0228
a0001c0001t0017g0213
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0053g0031
a0001c0005t0007g0209
 11 HG01884.hp2
HG01891.hp1
HG02630.hp1
others(8): Show 
HG01884.hp2
HG01891.hp1
HG02630.hp1
HG02647.hp1
HG02895.hp1
HG02896.hp1
HG03139.hp2
HG03471.hp1
HG03540.hp1
HG06807.hp1
NA19030.hp1
 intron_variant MODIFIER c.355+29139_355+2915
others(20): Show 
c.355+29139_355+29154delACACACACACACACAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759449
chr7:105759484 G
G
 GTGTGTGT
others(3): Show 
GTGTGTGTGTT
 8 a0001c0001t0001g0181
a0001c0001t0006g0116
a0001c0001t0009g0020
others(5): Show 
a0001c0001t0001g0181
a0001c0001t0006g0116
a0001c0001t0009g0020
a0001c0001t0010g0111
a0001c0001t0015g0019
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0040g0207
 8 HG00738.hp2
HG01074.hp1
HG01981.hp1
others(5): Show 
HG00738.hp2
HG01074.hp1
HG01981.hp1
HG02818.hp1
HG03098.hp2
HG03209.hp2
HG03942.hp1
NA19043.hp2
 intron_variant MODIFIER c.355+29119_355+2912
others(14): Show 
c.355+29119_355+29120insAACACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759484
chr7:105759484 G
G
 GTGTGTGT
others(1): Show 
GTGTGTGTT
 14 a0001c0001t0001g0082
a0001c0001t0002g0167
a0001c0001t0003g0029
others(11): Show 
a0001c0001t0001g0082
a0001c0001t0002g0167
a0001c0001t0003g0029
a0001c0001t0004g0198
a0001c0001t0005g0159
a0001c0001t0011g0099
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0243
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0056g0210
a0001c0004t0010g0154
a0006c0010t0031g0204
 14 HG00735.hp1
HG01515.hp1
HG02015.hp2
others(11): Show 
HG00735.hp1
HG01515.hp1
HG02015.hp2
HG02071.hp2
HG02280.hp1
HG02300.hp2
HG02523.hp2
HG03225.hp2
HG03490.hp2
HG03579.hp2
NA18950.hp1
NA18957.hp1
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.355+29119_355+2912
others(12): Show 
c.355+29119_355+29120insAACACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759484
chr7:105759484 G
G
 GTGTGTT
GTGTGTT
 108 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0033
others(105): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0222
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0239
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0128
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0251
a0001c0001t0014g0083
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0042g0161
a0001c0001t0044g0110
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 108 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(105): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00738.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG02056.hp1
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp2
HG03831.hp1
HG03942.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp2
NA18945.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18995.hp1
NA18995.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+29119_355+2912
others(10): Show 
c.355+29119_355+29120insAACACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759484
chr7:105759484 G
G
 GTGTT
GTGTT
 34 a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0002
others(31): Show 
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0187
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0006g0168
a0001c0001t0007g0218
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0013g0156
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0043g0105
a0002c0002t0022g0066
a0002c0002t0032g0226
a0002c0002t0033g0221
a0003c0003t0020g0199
 34 HG00673.hp1
HG00741.hp1
HG00741.hp2
others(31): Show 
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01192.hp1
HG01261.hp2
HG01358.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02622.hp2
HG02723.hp1
HG02895.hp2
HG03041.hp2
HG03225.hp1
HG03540.hp2
HG03688.hp1
HG04199.hp2
NA18522.hp1
NA18945.hp2
NA18950.hp2
NA18970.hp1
NA18994.hp2
NA19085.hp1
NA19088.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+29119_355+2912
others(8): Show 
c.355+29119_355+29120insAACA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759484
chr7:105759484 G
G
 GTT
GTT
 25 a0001c0001t0001g0017
a0001c0001t0003g0043
a0001c0001t0003g0090
others(22): Show 
a0001c0001t0001g0017
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0238
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0010g0095
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0014g0038
a0001c0001t0015g0193
a0001c0001t0018g0046
a0001c0001t0023g0247
a0001c0001t0028g0114
a0001c0001t0034g0068
a0001c0001t0041g0196
a0001c0001t0045g0190
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0063g0041
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
 25 HG00558.hp1
HG00735.hp2
HG01243.hp1
others(22): Show 
HG00558.hp1
HG00735.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01891.hp2
HG02027.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02818.hp2
HG02896.hp2
HG03471.hp2
HG03491.hp1
HG03688.hp2
HG03831.hp2
NA19000.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+29119_355+2912
others(6): Show 
c.355+29119_355+29120insAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759484
chr7:105759484 G
G
 T
T
 33 a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0214
others(30): Show 
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0071
a0001c0001t0003g0118
a0001c0001t0005g0014
a0001c0001t0006g0001
a0001c0001t0007g0202
a0001c0001t0008g0073
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0023g0183
a0001c0001t0027g0008
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0053g0031
a0001c0005t0007g0209
a0001c0007t0038g0158
 33 HG00558.hp2
HG01167.hp2
HG01168.hp1
others(30): Show 
HG00558.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02056.hp2
HG02155.hp1
HG02165.hp1
HG02630.hp1
HG02647.hp1
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG03139.hp2
HG03471.hp1
HG03540.hp1
HG04199.hp1
HG06807.hp1
NA18943.hp1
NA18948.hp1
NA19005.hp2
NA19030.hp1
NA19067.hp2
NA19091.hp1
 intron_variant MODIFIER c.355+29120C>A
c.355+29120C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759484
chr7:105759870 C
C
 T
T
 15 a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0142
others(12): Show 
a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0004g0219
a0001c0001t0006g0168
a0001c0001t0011g0012
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0002c0002t0022g0220
 15 HG00741.hp1
HG00741.hp2
HG01192.hp1
others(12): Show 
HG00741.hp1
HG00741.hp2
HG01192.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG02055.hp1
HG02129.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
NA18970.hp1
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.355+28734G>A
c.355+28734G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759870
chr7:105759961 G
G
 A
A
 2 a0001c0001t0006g0168
a0001c0001t0019g0062
a0001c0001t0006g0168
a0001c0001t0019g0062
 2 HG00741.hp1
HG00741.hp2
HG00741.hp1
HG00741.hp2
 intron_variant MODIFIER c.355+28643C>T
c.355+28643C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105759961
chr7:105760569 T
T
 C
C
 235 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(232): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 235 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(232): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+28035A>G
c.355+28035A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105760569
chr7:105760601 C
C
 T
T
 1 a0001c0001t0011g0157
a0001c0001t0011g0157
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.355+28003G>A
c.355+28003G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105760601
chr7:105760603 T
T
 C
C
 22 a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0142
others(19): Show 
a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0011g0012
a0001c0001t0013g0156
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0017g0113
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0226
a0002c0002t0033g0221
a0006c0010t0031g0204
 22 HG00741.hp1
HG00741.hp2
HG01074.hp2
others(19): Show 
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01192.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG02055.hp1
HG02129.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03540.hp2
HG03579.hp2
NA18970.hp1
NA19043.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.355+28001A>G
c.355+28001A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105760603
chr7:105760721 T
T
 G
G
 1 a0001c0001t0019g0230
a0001c0001t0019g0230
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.355+27883A>C
c.355+27883A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105760721
chr7:105760838 G
G
 GC
GC
 22 a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0142
others(19): Show 
a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0011g0012
a0001c0001t0013g0156
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0017g0113
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0226
a0002c0002t0033g0221
a0006c0010t0031g0204
 22 HG00741.hp1
HG00741.hp2
HG01074.hp2
others(19): Show 
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01192.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG02055.hp1
HG02129.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03540.hp2
HG03579.hp2
NA18970.hp1
NA19043.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.355+27765dupG
c.355+27765dupG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105760838
chr7:105761048 C
C
 T
T
 1 a0001c0001t0014g0083
a0001c0001t0014g0083
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.355+27556G>A
c.355+27556G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105761048
chr7:105761125 T
T
 C
C
 1 a0001c0001t0006g0116
a0001c0001t0006g0116
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.355+27479A>G
c.355+27479A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105761125
chr7:105761150 T
T
 C
C
 9 a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0006g0168
others(6): Show 
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0006g0168
a0001c0001t0011g0012
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
 9 HG00741.hp1
HG00741.hp2
HG01192.hp1
others(6): Show 
HG00741.hp1
HG00741.hp2
HG01192.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG02129.hp1
NA18970.hp1
NA19088.hp2
 intron_variant MODIFIER c.355+27454A>G
c.355+27454A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105761150
chr7:105761205 C
C
 T
T
 2 a0001c0001t0006g0116
a0001c0001t0013g0156
a0001c0001t0006g0116
a0001c0001t0013g0156
 2 HG02895.hp2
NA19043.hp2
HG02895.hp2
NA19043.hp2
 intron_variant MODIFIER c.355+27399G>A
c.355+27399G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105761205
chr7:105761220 T
T
 G
G
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.355+27384A>C
c.355+27384A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105761220
chr7:105761270 A
A
 C
C
 1 a0001c0001t0008g0216
a0001c0001t0008g0216
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.355+27334T>G
c.355+27334T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105761270
chr7:105761296 C
C
 T
T
 2 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0080
a0001c0001t0001g0081
 2 HG01516.hp2
HG01517.hp1
HG01516.hp2
HG01517.hp1
 intron_variant MODIFIER c.355+27308G>A
c.355+27308G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105761296
chr7:105761444 C
C
 T
T
 2 a0001c0001t0006g0116
a0001c0001t0013g0156
a0001c0001t0006g0116
a0001c0001t0013g0156
 2 HG02895.hp2
NA19043.hp2
HG02895.hp2
NA19043.hp2
 intron_variant MODIFIER c.355+27160G>A
c.355+27160G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105761444
chr7:105761548 A
A
 G
G
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.355+27056T>C
c.355+27056T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105761548
chr7:105762113 A
A
 C
C
 3 a0001c0001t0002g0179
a0001c0001t0013g0251
a0001c0001t0019g0178
a0001c0001t0002g0179
a0001c0001t0013g0251
a0001c0001t0019g0178
 3 HG01934.hp1
NA18954.hp2
NA20300.hp1
HG01934.hp1
NA18954.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+26491T>G
c.355+26491T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105762113
chr7:105762222 A
A
 C
C
 33 a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0002
others(30): Show 
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0003g0071
a0001c0001t0004g0219
a0001c0001t0006g0168
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0008g0216
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0013g0156
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0053g0031
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0226
a0002c0002t0033g0221
a0006c0010t0031g0204
 33 HG00741.hp1
HG00741.hp2
HG01074.hp1
others(30): Show 
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01192.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp1
HG02129.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG06807.hp1
NA18970.hp1
NA19030.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.355+26382T>G
c.355+26382T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105762222
chr7:105762278 C
C
 T
T
 1 a0001c0001t0008g0015
a0001c0001t0008g0015
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.355+26326G>A
c.355+26326G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105762278
chr7:105762626 A
A
 T
T
 3 a0001c0001t0018g0058
a0001c0001t0021g0130
a0002c0002t0030g0212
a0001c0001t0018g0058
a0001c0001t0021g0130
a0002c0002t0030g0212
 3 HG02572.hp2
HG03471.hp2
NA19240.hp2
HG02572.hp2
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+25978T>A
c.355+25978T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105762626
chr7:105762743 G
G
 A
A
 1 a0001c0001t0021g0130
a0001c0001t0021g0130
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+25861C>T
c.355+25861C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105762743
chr7:105763087 A
A
 G
G
 3 a0001c0001t0012g0122
a0001c0001t0026g0189
a0003c0003t0005g0079
a0001c0001t0012g0122
a0001c0001t0026g0189
a0003c0003t0005g0079
 3 HG01109.hp1
HG01257.hp1
HG06807.hp2
HG01109.hp1
HG01257.hp1
HG06807.hp2
 intron_variant MODIFIER c.355+25517T>C
c.355+25517T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105763087
chr7:105763294 C
C
 T
T
 1 a0001c0001t0004g0198
a0001c0001t0004g0198
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.355+25310G>A
c.355+25310G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105763294
chr7:105763761 T
T
 G
G
 1 a0001c0001t0003g0071
a0001c0001t0003g0071
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.355+24843A>C
c.355+24843A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105763761
chr7:105763843 T
T
 G
G
 4 a0001c0001t0002g0162
a0001c0001t0003g0147
a0001c0001t0009g0146
others(1): Show 
a0001c0001t0002g0162
a0001c0001t0003g0147
a0001c0001t0009g0146
a0001c0001t0022g0224
 4 HG02055.hp1
NA19054.hp1
NA19068.hp2
others(1): Show 
HG02055.hp1
NA19054.hp1
NA19068.hp2
NA19087.hp2
 intron_variant MODIFIER c.355+24761A>C
c.355+24761A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105763843
chr7:105763846 G
G
 T
T
 5 a0001c0001t0006g0116
a0001c0001t0013g0156
a0001c0001t0034g0068
others(2): Show 
a0001c0001t0006g0116
a0001c0001t0013g0156
a0001c0001t0034g0068
a0001c0001t0040g0207
a0001c0001t0052g0133
 5 HG02572.hp1
HG02895.hp2
HG03098.hp2
others(2): Show 
HG02572.hp1
HG02895.hp2
HG03098.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.355+24758C>A
c.355+24758C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105763846
chr7:105764272 A
A
 G
G
 1 a0001c0001t0027g0008
a0001c0001t0027g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.355+24332T>C
c.355+24332T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105764272
chr7:105764297 T
T
 TA
TA
 18 a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0142
others(15): Show 
a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0011g0012
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0029g0072
a0001c0001t0053g0031
a0001c0005t0007g0209
a0002c0002t0022g0220
a0006c0010t0031g0204
 18 HG00741.hp1
HG00741.hp2
HG01192.hp1
others(15): Show 
HG00741.hp1
HG00741.hp2
HG01192.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp1
HG02129.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG03579.hp2
NA18970.hp1
NA19043.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.355+24306dupT
c.355+24306dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105764297
chr7:105764300 AG
AG
 A
A
 4 a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0013g0243
others(1): Show 
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0013g0243
a0001c0001t0034g0068
 4 HG01515.hp1
HG02572.hp1
HG02895.hp1
others(1): Show 
HG01515.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp2
 intron_variant MODIFIER c.355+24303delC
c.355+24303delC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105764300
chr7:105764301 G
G
 A
A
 175 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(172): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0006c0010t0031g0204
a0007c0009t0007g0096
 175 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(172): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01081.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18970.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+24303C>T
c.355+24303C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105764301
chr7:105764512 C
C
 T
T
 28 a0001c0001t0001g0003
a0001c0001t0002g0042
a0001c0001t0002g0162
others(25): Show 
a0001c0001t0001g0003
a0001c0001t0002g0042
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0058g0018
a0001c0008t0014g0165
 28 HG01257.hp2
HG01258.hp1
HG01515.hp1
others(25): Show 
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG01934.hp1
HG01952.hp2
HG01981.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG03239.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18522.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+24092G>A
c.355+24092G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105764512
chr7:105764578 G
G
 T
T
 39 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(36): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0003g0100
a0001c0001t0004g0039
a0001c0001t0005g0159
a0001c0001t0008g0015
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0122
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0026g0189
a0001c0001t0028g0037
a0001c0001t0042g0161
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0012t0003g0047
a0003c0003t0005g0079
a0005c0011t0008g0092
 39 HG00673.hp2
HG00735.hp2
HG01099.hp1
others(36): Show 
HG00673.hp2
HG00735.hp2
HG01099.hp1
HG01109.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp1
HG01952.hp1
HG01978.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp2
HG02135.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp2
HG02602.hp1
HG02602.hp2
HG02735.hp1
HG03490.hp2
HG03491.hp2
HG03688.hp2
HG06807.hp2
NA18945.hp1
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18995.hp1
NA19009.hp2
NA19010.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.355+24026C>A
c.355+24026C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105764578
chr7:105764712 G
G
 T
T
 1 a0001c0001t0008g0175
a0001c0001t0008g0175
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.355+23892C>A
c.355+23892C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105764712
chr7:105764792 A
A
 T
T
 1 a0001c0001t0035g0151
a0001c0001t0035g0151
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+23812T>A
c.355+23812T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105764792
chr7:105764794 T
T
 A
A
 1 a0001c0001t0048g0132
a0001c0001t0048g0132
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.355+23810A>T
c.355+23810A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105764794
chr7:105764853 T
T
 C
C
 1 a0001c0001t0027g0008
a0001c0001t0027g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.355+23751A>G
c.355+23751A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105764853
chr7:105764990 C
C
 T
T
 1 a0001c0001t0016g0069
a0001c0001t0016g0069
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.355+23614G>A
c.355+23614G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105764990
chr7:105765065 T
T
 G
G
 2 a0001c0001t0013g0156
a0001c0001t0040g0207
a0001c0001t0013g0156
a0001c0001t0040g0207
 2 HG02895.hp2
HG03098.hp2
HG02895.hp2
HG03098.hp2
 intron_variant MODIFIER c.355+23539A>C
c.355+23539A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105765065
chr7:105765291 G
G
 A
A
 28 a0001c0001t0001g0003
a0001c0001t0002g0042
a0001c0001t0002g0162
others(25): Show 
a0001c0001t0001g0003
a0001c0001t0002g0042
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0058g0018
a0001c0008t0014g0165
 28 HG01257.hp2
HG01258.hp1
HG01515.hp1
others(25): Show 
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG01934.hp1
HG01952.hp2
HG01981.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG03239.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18522.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+23313C>T
c.355+23313C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105765291
chr7:105765315 G
G
 GA
GA
 97 a0001c0001t0001g0003
a0001c0001t0001g0119
a0001c0001t0001g0181
others(94): Show 
a0001c0001t0001g0003
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0004g0135
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0115
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0052g0133
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0063g0041
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0033g0221
a0003c0003t0020g0199
a0007c0009t0007g0096
 97 HG00558.hp2
HG00741.hp1
HG00741.hp2
others(94): Show 
HG00558.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02056.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp2
HG03516.hp2
HG03540.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
NA18943.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18970.hp1
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+23288dupT
c.355+23288dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105765315
chr7:105765315 G
G
 GAA
GAA
 6 a0001c0001t0004g0211
a0001c0001t0007g0223
a0001c0001t0008g0175
others(3): Show 
a0001c0001t0004g0211
a0001c0001t0007g0223
a0001c0001t0008g0175
a0001c0001t0013g0156
a0001c0001t0027g0008
a0001c0001t0040g0207
 6 HG02895.hp2
HG03098.hp2
HG03139.hp2
others(3): Show 
HG02895.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
NA18522.hp1
NA19067.hp2
 intron_variant MODIFIER c.355+23287_355+2328
others(6): Show 
c.355+23287_355+23288dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105765315
chr7:105765406 T
T
 A
A
 5 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(2): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0062g0007
 5 NA18971.hp2
NA18994.hp1
NA19000.hp2
others(2): Show 
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
 intron_variant MODIFIER c.355+23198A>T
c.355+23198A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105765406
chr7:105765510 C
C
 A
A
 1 a0001c0001t0006g0024
a0001c0001t0006g0024
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.355+23094G>T
c.355+23094G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105765510
chr7:105765554 T
T
 C
C
 33 a0001c0001t0001g0003
a0001c0001t0002g0042
a0001c0001t0002g0162
others(30): Show 
a0001c0001t0001g0003
a0001c0001t0002g0042
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0073
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0058g0018
a0001c0008t0014g0165
 33 HG01168.hp2
HG01169.hp1
HG01257.hp2
others(30): Show 
HG01168.hp2
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG01934.hp1
HG01952.hp2
HG01981.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG02895.hp2
HG03098.hp2
HG03239.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18522.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+23050A>G
c.355+23050A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105765554
chr7:105765602 G
G
 A
A
 3 a0001c0001t0001g0108
a0001c0001t0015g0109
a0004c0013t0036g0107
a0001c0001t0001g0108
a0001c0001t0015g0109
a0004c0013t0036g0107
 3 HG00280.hp1
HG01256.hp1
HG01261.hp1
HG00280.hp1
HG01256.hp1
HG01261.hp1
 intron_variant MODIFIER c.355+23002C>T
c.355+23002C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105765602
chr7:105765696 T
T
 G
G
 1 a0001c0001t0027g0008
a0001c0001t0027g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.355+22908A>C
c.355+22908A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105765696
chr7:105765736 T
T
 C
C
 1 a0001c0001t0020g0120
a0001c0001t0020g0120
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.355+22868A>G
c.355+22868A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105765736
chr7:105765813 C
C
 A
A
 2 a0001c0001t0004g0084
a0001c0001t0033g0040
a0001c0001t0004g0084
a0001c0001t0033g0040
 2 HG01069.hp2
HG01081.hp2
HG01069.hp2
HG01081.hp2
 intron_variant MODIFIER c.355+22791G>T
c.355+22791G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105765813
chr7:105766088 G
G
 C
C
 56 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
others(53): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0003g0071
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0228
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0005t0007g0209
a0001c0008t0014g0165
a0002c0002t0032g0149
a0006c0010t0031g0204
 56 HG00673.hp1
HG01257.hp2
HG01258.hp1
others(53): Show 
HG00673.hp1
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02155.hp1
HG02300.hp1
HG02630.hp1
HG02647.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18989.hp2
NA18994.hp2
NA19003.hp1
NA19005.hp1
NA19030.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+22516C>G
c.355+22516C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105766088
chr7:105766215 G
G
 A
A
 3 a0001c0001t0018g0058
a0001c0001t0021g0130
a0002c0002t0030g0212
a0001c0001t0018g0058
a0001c0001t0021g0130
a0002c0002t0030g0212
 3 HG02572.hp2
HG03471.hp2
NA19240.hp2
HG02572.hp2
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+22389C>T
c.355+22389C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105766215
chr7:105766415 T
T
 C
C
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.355+22189A>G
c.355+22189A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105766415
chr7:105766427 G
G
 A
A
 10 a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0048
others(7): Show 
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0048
a0001c0001t0002g0187
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0011g0101
a0001c0001t0024g0077
 10 HG00673.hp1
HG02015.hp1
HG02055.hp2
others(7): Show 
HG00673.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02155.hp1
HG03688.hp1
HG04199.hp2
NA18945.hp2
NA18950.hp2
NA18994.hp2
 intron_variant MODIFIER c.355+22177C>T
c.355+22177C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105766427
chr7:105766470 T
T
 C
C
 32 a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
others(29): Show 
a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0006g0001
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0011g0152
a0001c0001t0012g0115
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0018g0094
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0045g0190
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0007t0038g0158
a0002c0002t0030g0208
a0003c0003t0020g0199
 32 HG00558.hp2
HG01069.hp1
HG01167.hp2
others(29): Show 
HG00558.hp2
HG01069.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01255.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02056.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02523.hp1
HG02738.hp2
HG02896.hp2
HG04199.hp1
NA18943.hp1
NA18948.hp1
NA19005.hp2
NA19043.hp1
NA19067.hp2
NA19074.hp2
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+22134A>G
c.355+22134A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105766470
chr7:105766623 C
C
 T
T
 22 a0001c0001t0001g0222
a0001c0001t0004g0219
a0001c0001t0006g0117
others(19): Show 
a0001c0001t0001g0222
a0001c0001t0004g0219
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0018g0058
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0027g0134
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0044g0110
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0033g0221
a0007c0009t0007g0096
 22 HG01074.hp2
HG01243.hp1
HG02280.hp2
others(19): Show 
HG01074.hp2
HG01243.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp2
NA19030.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+21981G>A
c.355+21981G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105766623
chr7:105766684 C
C
 T
T
 9 a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0225
others(6): Show 
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0225
a0001c0001t0003g0070
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0016g0139
a0001c0001t0046g0138
a0002c0002t0059g0200
 9 HG02451.hp2
HG02559.hp1
HG02622.hp1
others(6): Show 
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG03041.hp1
HG03579.hp1
NA18522.hp2
NA18906.hp1
NA20129.hp1
 intron_variant MODIFIER c.355+21920G>A
c.355+21920G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105766684
chr7:105766691 G
G
 A
A
 2 a0001c0001t0017g0113
a0006c0010t0031g0204
a0001c0001t0017g0113
a0006c0010t0031g0204
 2 HG03209.hp2
HG03579.hp2
HG03209.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+21913C>T
c.355+21913C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105766691
chr7:105766698 C
C
 T
T
 1 a0001c0001t0005g0014
a0001c0001t0005g0014
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.355+21906G>A
c.355+21906G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105766698
chr7:105766702 C
C
 T
T
 1 a0002c0002t0032g0149
a0002c0002t0032g0149
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.355+21902G>A
c.355+21902G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105766702
chr7:105766961 G
G
 A
A
 55 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
others(52): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0003g0071
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0228
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0024g0077
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0005t0007g0209
a0001c0008t0014g0165
a0002c0002t0032g0149
a0006c0010t0031g0204
 55 HG00673.hp1
HG01257.hp2
HG01258.hp1
others(52): Show 
HG00673.hp1
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02155.hp1
HG02300.hp1
HG02630.hp1
HG02647.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG03098.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18989.hp2
NA18994.hp2
NA19003.hp1
NA19005.hp1
NA19030.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+21643C>T
c.355+21643C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105766961
chr7:105767017 C
C
 T
T
 13 a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0048
others(10): Show 
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0048
a0001c0001t0002g0187
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0024
a0001c0001t0011g0101
a0001c0001t0017g0113
a0001c0001t0024g0077
a0001c0001t0056g0210
a0006c0010t0031g0204
 13 HG00673.hp1
HG02015.hp1
HG02055.hp2
others(10): Show 
HG00673.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02155.hp1
HG03209.hp2
HG03225.hp2
HG03579.hp2
HG03688.hp1
HG04199.hp2
NA18945.hp2
NA18950.hp2
NA18994.hp2
 intron_variant MODIFIER c.355+21587G>A
c.355+21587G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105767017
chr7:105767028 G
G
 T
T
 3 a0001c0001t0006g0022
a0001c0001t0009g0013
a0001c0001t0015g0019
a0001c0001t0006g0022
a0001c0001t0009g0013
a0001c0001t0015g0019
 3 HG02738.hp1
HG03239.hp2
HG03942.hp1
HG02738.hp1
HG03239.hp2
HG03942.hp1
 intron_variant MODIFIER c.355+21576C>A
c.355+21576C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105767028
chr7:105767215 C
C
 T
T
 12 a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0006g0168
others(9): Show 
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0006g0168
a0001c0001t0011g0012
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0022g0224
a0002c0002t0022g0220
 12 HG00741.hp1
HG00741.hp2
HG01192.hp1
others(9): Show 
HG00741.hp1
HG00741.hp2
HG01192.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG02055.hp1
HG02129.hp1
HG02723.hp2
NA18970.hp1
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.355+21389G>A
c.355+21389G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105767215
chr7:105767291 G
G
 T
T
 1 a0001c0001t0008g0015
a0001c0001t0008g0015
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.355+21313C>A
c.355+21313C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105767291
chr7:105767569 T
T
 C
C
 68 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
others(65): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0003g0071
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0005t0007g0209
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0032g0149
a0006c0010t0031g0204
 68 HG00673.hp1
HG00741.hp1
HG00741.hp2
others(65): Show 
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02129.hp1
HG02155.hp1
HG02300.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18970.hp1
NA18989.hp2
NA18994.hp2
NA19003.hp1
NA19005.hp1
NA19030.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.355+21035A>G
c.355+21035A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105767569
chr7:105767765 G
G
 T
T
 1 a0001c0001t0011g0157
a0001c0001t0011g0157
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.355+20839C>A
c.355+20839C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105767765
chr7:105767925 G
G
 A
A
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.355+20679C>T
c.355+20679C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105767925
chr7:105767927 G
G
 A
A
 12 a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0003g0071
others(9): Show 
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0003g0071
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0010g0228
a0001c0001t0017g0213
a0001c0001t0029g0215
a0001c0001t0053g0031
a0001c0005t0007g0209
a0002c0002t0032g0149
 12 HG01884.hp2
HG01891.hp1
HG02630.hp1
others(9): Show 
HG01884.hp2
HG01891.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02965.hp2
HG03471.hp1
HG03540.hp1
HG06807.hp1
NA19030.hp1
 intron_variant MODIFIER c.355+20677C>T
c.355+20677C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105767927
chr7:105767982 C
C
 T
T
 1 a0001c0001t0027g0008
a0001c0001t0027g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.355+20622G>A
c.355+20622G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105767982
chr7:105768306 G
G
 A
A
 6 a0001c0001t0004g0219
a0001c0001t0007g0144
a0001c0001t0021g0227
others(3): Show 
a0001c0001t0004g0219
a0001c0001t0007g0144
a0001c0001t0021g0227
a0002c0002t0022g0066
a0002c0002t0032g0226
a0002c0002t0033g0221
 6 HG01074.hp2
HG02622.hp2
HG02723.hp1
others(3): Show 
HG01074.hp2
HG02622.hp2
HG02723.hp1
HG03225.hp1
HG03540.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+20298C>T
c.355+20298C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105768306
chr7:105768449 C
C
 A
A
 9 a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0048
others(6): Show 
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0048
a0001c0001t0002g0187
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0011g0101
a0001c0001t0024g0077
 9 HG00673.hp1
HG02015.hp1
HG02055.hp2
others(6): Show 
HG00673.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02155.hp1
HG03688.hp1
NA18945.hp2
NA18950.hp2
NA18994.hp2
 intron_variant MODIFIER c.355+20155G>T
c.355+20155G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105768449
chr7:105768451 G
G
 A
A
 9 a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0048
others(6): Show 
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0048
a0001c0001t0002g0187
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0011g0101
a0001c0001t0024g0077
 9 HG00673.hp1
HG02015.hp1
HG02055.hp2
others(6): Show 
HG00673.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02155.hp1
HG03688.hp1
NA18945.hp2
NA18950.hp2
NA18994.hp2
 intron_variant MODIFIER c.355+20153C>T
c.355+20153C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105768451
chr7:105768519 G
G
 T
T
 1 a0001c0001t0024g0077
a0001c0001t0024g0077
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.355+20085C>A
c.355+20085C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105768519
chr7:105768563 T
T
 G
G
 1 a0001c0001t0060g0192
a0001c0001t0060g0192
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.355+20041A>C
c.355+20041A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105768563
chr7:105768715 C
C
 A
A
 56 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
others(53): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0003g0071
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0053g0031
a0001c0001t0058g0018
a0001c0005t0007g0209
a0001c0008t0014g0165
a0002c0002t0032g0149
a0006c0010t0031g0204
 56 HG00673.hp1
HG01257.hp2
HG01258.hp1
others(53): Show 
HG00673.hp1
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02129.hp1
HG02155.hp1
HG02300.hp1
HG02630.hp1
HG02647.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18970.hp1
NA18989.hp2
NA18994.hp2
NA19003.hp1
NA19005.hp1
NA19030.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+19889G>T
c.355+19889G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105768715
chr7:105768723 G
G
 A
A
 42 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
others(39): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0162
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0024g0077
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0058g0018
a0001c0008t0014g0165
 42 HG00673.hp1
HG01257.hp2
HG01258.hp1
others(39): Show 
HG00673.hp1
HG01257.hp2
HG01258.hp1
HG01515.hp1
HG01934.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02129.hp1
HG02155.hp1
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG02895.hp2
HG03098.hp2
HG03239.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18522.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18970.hp1
NA18989.hp2
NA18994.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+19881C>T
c.355+19881C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105768723
chr7:105768872 A
A
 G
G
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.355+19732T>C
c.355+19732T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105768872
chr7:105768967 C
C
 G
G
 2 a0001c0001t0017g0113
a0006c0010t0031g0204
a0001c0001t0017g0113
a0006c0010t0031g0204
 2 HG03209.hp2
HG03579.hp2
HG03209.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+19637G>C
c.355+19637G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105768967
chr7:105769323 T
T
 G
G
 27 a0001c0001t0001g0005
a0001c0001t0001g0080
a0001c0001t0001g0081
others(24): Show 
a0001c0001t0001g0005
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0225
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0235
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0006g0067
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0016g0139
a0001c0001t0035g0151
a0001c0001t0046g0138
a0001c0001t0055g0252
a0001c0001t0060g0192
a0001c0001t0062g0007
a0002c0002t0059g0200
 27 HG01175.hp2
HG01256.hp2
HG01258.hp2
others(24): Show 
HG01175.hp2
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG02145.hp1
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02895.hp1
HG03041.hp1
HG03239.hp1
HG03516.hp1
HG03579.hp1
HG03669.hp1
NA18522.hp2
NA18906.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+19281A>C
c.355+19281A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105769323
chr7:105769473 A
A
 T
T
 48 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
others(45): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0024g0077
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0058g0018
a0001c0008t0014g0165
a0005c0011t0008g0092
 48 HG00673.hp1
HG01257.hp2
HG01258.hp1
others(45): Show 
HG00673.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01934.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02129.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG02895.hp2
HG03098.hp2
HG03239.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18522.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA18994.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+19131T>A
c.355+19131T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105769473
chr7:105769650 G
G
 A
A
 37 a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
others(34): Show 
a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0058g0018
a0001c0008t0014g0165
a0005c0011t0008g0092
 37 HG01257.hp2
HG01258.hp1
HG01346.hp1
others(34): Show 
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01934.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02129.hp1
HG02148.hp1
HG02165.hp2
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG03239.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18522.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+18954C>T
c.355+18954C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105769650
chr7:105769652 C
C
 T
T
 1 a0003c0003t0020g0199
a0003c0003t0020g0199
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.355+18952G>A
c.355+18952G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105769652
chr7:105769771 T
T
 C
C
 1 a0001c0001t0006g0116
a0001c0001t0006g0116
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.355+18833A>G
c.355+18833A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105769771
chr7:105769774 C
C
 G
G
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.355+18830G>C
c.355+18830G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105769774
chr7:105769792 C
C
 T
T
 48 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
others(45): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0024g0077
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0058g0018
a0001c0008t0014g0165
a0005c0011t0008g0092
 48 HG00673.hp1
HG01257.hp2
HG01258.hp1
others(45): Show 
HG00673.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01934.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02129.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG02895.hp2
HG03098.hp2
HG03239.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18522.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA18994.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+18812G>A
c.355+18812G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105769792
chr7:105770057 A
A
 G
G
 1 a0001c0001t0023g0183
a0001c0001t0023g0183
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.355+18547T>C
c.355+18547T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105770057
chr7:105770197 A
A
 G
G
 1 a0001c0001t0006g0116
a0001c0001t0006g0116
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.355+18407T>C
c.355+18407T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105770197
chr7:105770516 A
A
 G
G
 1 a0001c0001t0026g0189
a0001c0001t0026g0189
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.355+18088T>C
c.355+18088T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105770516
chr7:105771178 C
C
 T
T
 31 a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
others(28): Show 
a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0006g0001
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0011g0152
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0045g0190
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0007t0038g0158
a0002c0002t0030g0208
a0003c0003t0020g0199
 31 HG00558.hp2
HG01069.hp1
HG01168.hp1
others(28): Show 
HG00558.hp2
HG01069.hp1
HG01168.hp1
HG01192.hp2
HG01255.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02056.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02523.hp1
HG02738.hp2
HG02896.hp2
HG04199.hp1
NA18943.hp1
NA18948.hp1
NA19005.hp2
NA19043.hp1
NA19067.hp2
NA19074.hp2
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+17426G>A
c.355+17426G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105771178
chr7:105771201 G
G
 GATA
GATA
 68 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0074
others(65): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0222
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0198
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0006g0117
a0001c0001t0007g0218
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0010g0032
a0001c0001t0010g0111
a0001c0001t0011g0152
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0035g0151
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0007t0038g0158
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
 68 HG00558.hp2
HG00735.hp1
HG00735.hp2
others(65): Show 
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01069.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01981.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02451.hp1
HG02602.hp1
HG02735.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03669.hp2
HG03688.hp2
HG04199.hp1
HG06807.hp2
NA18948.hp1
NA18957.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA19000.hp2
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19066.hp1
NA19067.hp2
NA19074.hp2
NA19086.hp1
NA19091.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+17400_355+1740
others(7): Show 
c.355+17400_355+17402dupTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105771201
chr7:105771201 G
G
 GATAATA
GATAATA
 32 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0044
others(29): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0174
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0002g0153
a0001c0001t0002g0231
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0007g0144
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0009g0054
a0001c0001t0012g0244
a0001c0001t0016g0136
a0001c0001t0023g0183
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0047g0121
a0001c0001t0052g0133
a0001c0004t0010g0154
a0001c0005t0007g0209
a0002c0002t0030g0208
a0002c0002t0032g0149
 32 HG01175.hp2
HG01243.hp2
HG01358.hp2
others(29): Show 
HG01175.hp2
HG01243.hp2
HG01358.hp2
HG01433.hp2
HG01891.hp1
HG02027.hp1
HG02083.hp1
HG02132.hp2
HG02451.hp2
HG02523.hp1
HG02572.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp2
HG02896.hp2
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG06807.hp1
NA18906.hp2
NA18943.hp1
NA18954.hp1
NA18994.hp1
NA18995.hp1
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+17397_355+1740
others(10): Show 
c.355+17397_355+17402dupTATTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105771201
chr7:105771201 G
G
 GATAATAA
others(2): Show 
GATAATAATA
 25 a0001c0001t0001g0145
a0001c0001t0001g0185
a0001c0001t0002g0167
others(22): Show 
a0001c0001t0001g0145
a0001c0001t0001g0185
a0001c0001t0002g0167
a0001c0001t0002g0186
a0001c0001t0003g0090
a0001c0001t0004g0135
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0007g0217
a0001c0001t0009g0103
a0001c0001t0010g0228
a0001c0001t0013g0243
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0042g0161
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0012t0003g0047
a0002c0002t0022g0220
 25 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(22): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00741.hp2
HG01243.hp1
HG01515.hp1
HG01884.hp2
HG01934.hp2
HG02027.hp2
HG02055.hp1
HG02630.hp1
HG02723.hp2
HG02896.hp1
HG02965.hp2
HG03209.hp2
HG03225.hp2
HG03540.hp1
NA18943.hp2
NA18945.hp1
NA19009.hp2
NA19010.hp1
NA19054.hp2
NA19088.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+17394_355+1740
others(13): Show 
c.355+17394_355+17402dupTATTATTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105771201
chr7:105771201 G
G
 GATAATAA
others(5): Show 
GATAATAATAATA
 30 a0001c0001t0001g0078
a0001c0001t0001g0163
a0001c0001t0001g0181
others(27): Show 
a0001c0001t0001g0078
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0005g0248
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0028g0114
a0001c0001t0043g0105
a0001c0001t0054g0087
a0006c0010t0031g0204
 30 HG00642.hp1
HG00673.hp2
HG00741.hp1
others(27): Show 
HG00642.hp1
HG00673.hp2
HG00741.hp1
HG01081.hp1
HG01192.hp1
HG01255.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG02015.hp2
HG02083.hp2
HG02129.hp2
HG02559.hp2
HG02818.hp1
HG03579.hp2
NA18747.hp1
NA18747.hp2
NA18962.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19043.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19091.hp2
 intron_variant MODIFIER c.355+17391_355+1740
others(16): Show 
c.355+17391_355+17402dupTATTATTATTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105771201
chr7:105771201 G
G
 GATAATAA
others(8): Show 
GATAATAATAATAATA
 2 a0001c0001t0001g0106
a0001c0001t0003g0029
a0001c0001t0001g0106
a0001c0001t0003g0029
 2 HG02132.hp1
NA18957.hp1
HG02132.hp1
NA18957.hp1
 intron_variant MODIFIER c.355+17388_355+1740
others(19): Show 
c.355+17388_355+17402dupTATTATTATTATTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105771201
chr7:105771201 G
G
 GATAATAA
others(11): Show 
GATAATAATAATAATAATA
 1 a0001c0001t0002g0056
a0001c0001t0002g0056
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.355+17385_355+1740
others(22): Show 
c.355+17385_355+17402dupTATTATTATTATTATTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105771201
chr7:105771201 GATA
GATA
 G
G
 26 a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0108
others(23): Show 
a0001c0001t0001g0059
a0001c0001t0001g0082
a0001c0001t0001g0108
a0001c0001t0002g0239
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0006g0024
a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0236
a0001c0001t0014g0038
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0017g0195
a0001c0001t0021g0130
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0033g0040
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0051g0035
a0001c0001t0061g0036
a0002c0002t0030g0212
a0004c0013t0036g0107
 26 HG00280.hp1
HG00642.hp2
HG00738.hp1
others(23): Show 
HG00280.hp1
HG00642.hp2
HG00738.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01256.hp1
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01516.hp1
HG02280.hp1
HG02300.hp2
HG02523.hp2
HG03209.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03669.hp1
HG03831.hp2
HG04199.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+17400_355+1740
others(7): Show 
c.355+17400_355+17402delTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105771201
chr7:105771201 GATAATA
GATAATA
 G
G
 48 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0080
others(45): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0017g0194
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0024g0077
a0001c0001t0031g0172
a0001c0001t0058g0018
a0001c0008t0014g0165
a0005c0011t0008g0092
 48 HG00673.hp1
HG01074.hp1
HG01257.hp2
others(45): Show 
HG00673.hp1
HG01074.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02129.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG03239.hp2
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18522.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA18994.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+17397_355+1740
others(10): Show 
c.355+17397_355+17402delTATTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105771201
chr7:105771482 C
C
 T
T
 32 a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
others(29): Show 
a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0006g0001
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0011g0152
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0045g0190
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0007t0038g0158
a0002c0002t0030g0208
a0003c0003t0020g0199
 32 HG00558.hp2
HG01069.hp1
HG01168.hp1
others(29): Show 
HG00558.hp2
HG01069.hp1
HG01168.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02056.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02523.hp1
HG02738.hp2
HG02896.hp2
HG04199.hp1
NA18943.hp1
NA18948.hp1
NA19005.hp2
NA19043.hp1
NA19067.hp2
NA19074.hp2
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+17122G>A
c.355+17122G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105771482
chr7:105771634 T
T
 C
C
 183 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(180): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 183 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(180): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01081.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+16970A>G
c.355+16970A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105771634
chr7:105771754 T
T
 C
C
 13 a0001c0001t0001g0181
a0001c0001t0006g0168
a0001c0001t0013g0243
others(10): Show 
a0001c0001t0001g0181
a0001c0001t0006g0168
a0001c0001t0013g0243
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0056g0210
a0002c0002t0022g0220
 13 HG00741.hp1
HG00741.hp2
HG01192.hp1
others(10): Show 
HG00741.hp1
HG00741.hp2
HG01192.hp1
HG01261.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG02055.hp1
HG02723.hp2
HG02818.hp1
HG03139.hp2
HG03225.hp2
NA19240.hp1
 intron_variant MODIFIER c.355+16850A>G
c.355+16850A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105771754
chr7:105771807 T
T
 C
C
 61 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0119
others(58): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0014g0166
a0001c0001t0016g0176
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0034g0068
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0052g0133
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0007t0038g0158
a0002c0002t0030g0208
a0003c0003t0020g0199
 61 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(58): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG01069.hp1
HG01081.hp1
HG01168.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02083.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02523.hp1
HG02572.hp1
HG02738.hp2
HG02896.hp2
HG03516.hp2
HG04199.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18948.hp1
NA18957.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19005.hp2
NA19043.hp1
NA19060.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA20300.hp2
 intron_variant MODIFIER c.355+16797A>G
c.355+16797A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105771807
chr7:105771910 A
A
 C
C
 1 a0001c0001t0013g0243
a0001c0001t0013g0243
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.355+16694T>G
c.355+16694T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105771910
chr7:105772039 A
A
 G
G
 1 a0001c0001t0006g0116
a0001c0001t0006g0116
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.355+16565T>C
c.355+16565T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105772039
chr7:105772063 A
A
 AT
AT
 55 a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0001g0106
others(52): Show 
a0001c0001t0001g0005
a0001c0001t0001g0059
a0001c0001t0001g0106
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0002g0167
a0001c0001t0002g0188
a0001c0001t0003g0011
a0001c0001t0003g0070
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0023
a0001c0001t0005g0159
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0103
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0012g0028
a0001c0001t0012g0115
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0042g0161
a0001c0001t0044g0110
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0002c0002t0022g0220
a0003c0003t0020g0199
 55 HG00558.hp1
HG00642.hp1
HG00642.hp2
others(52): Show 
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp1
HG01261.hp2
HG01358.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02071.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03516.hp1
HG03831.hp2
NA18943.hp1
NA18943.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19010.hp1
NA19074.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.355+16540dupA
c.355+16540dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105772063
chr7:105772063 A
A
 ATT
ATT
 12 a0001c0001t0001g0222
a0001c0001t0003g0043
a0001c0001t0008g0089
others(9): Show 
a0001c0001t0001g0222
a0001c0001t0003g0043
a0001c0001t0008g0089
a0001c0001t0015g0060
a0001c0001t0015g0193
a0001c0001t0018g0058
a0001c0001t0021g0130
a0001c0001t0023g0247
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0056g0210
a0002c0002t0030g0208
 12 HG01175.hp1
HG01243.hp1
HG02132.hp2
others(9): Show 
HG01175.hp1
HG01243.hp1
HG02132.hp2
HG02135.hp1
HG02280.hp2
HG02523.hp1
HG02572.hp2
HG02896.hp2
HG03098.hp1
HG03225.hp2
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+16539_355+1654
others(6): Show 
c.355+16539_355+16540dupAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105772063
chr7:105772063 A
A
 ATTTT
ATTTT
 6 a0001c0001t0001g0085
a0001c0001t0002g0048
a0001c0001t0005g0014
others(3): Show 
a0001c0001t0001g0085
a0001c0001t0002g0048
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0011g0101
a0001c0001t0013g0156
 6 HG02015.hp1
HG02071.hp1
HG02155.hp1
others(3): Show 
HG02015.hp1
HG02071.hp1
HG02155.hp1
HG02895.hp2
NA18945.hp2
NA18950.hp2
 intron_variant MODIFIER c.355+16537_355+1654
others(8): Show 
c.355+16537_355+16540dupAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105772063
chr7:105772063 AT
AT
 A
A
 13 a0001c0001t0001g0009
a0001c0001t0001g0081
a0001c0001t0001g0145
others(10): Show 
a0001c0001t0001g0009
a0001c0001t0001g0081
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0003g0029
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0029g0215
a0001c0001t0053g0031
a0002c0002t0032g0149
a0002c0002t0033g0221
 13 HG01167.hp1
HG01517.hp1
HG01884.hp2
others(10): Show 
HG01167.hp1
HG01517.hp1
HG01884.hp2
HG02647.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG03540.hp2
HG03669.hp2
HG06807.hp1
NA18954.hp1
NA18957.hp1
NA19030.hp1
 intron_variant MODIFIER c.355+16540delA
c.355+16540delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105772063
chr7:105772063 ATT
ATT
 A
A
 7 a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0011g0170
others(4): Show 
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0058g0018
 7 HG01952.hp2
HG03831.hp1
HG03942.hp1
others(4): Show 
HG01952.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18950.hp1
NA19087.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+16539_355+1654
others(6): Show 
c.355+16539_355+16540delAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105772063
chr7:105772063 ATTT
ATTT
 A
A
 28 a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
others(25): Show 
a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0005g0025
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0164
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0008t0014g0165
a0005c0011t0008g0092
 28 HG01257.hp2
HG01258.hp1
HG01346.hp1
others(25): Show 
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01934.hp1
HG01978.hp2
HG01981.hp1
HG02129.hp1
HG02148.hp1
HG02165.hp2
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG03239.hp2
NA18522.hp1
NA18948.hp2
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19088.hp2
 intron_variant MODIFIER c.355+16538_355+1654
others(7): Show 
c.355+16538_355+16540delAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105772063
chr7:105772063 ATTTTTTT
others(7): Show 
ATTTTTTTTTTTTTT
 A
A
 1 a0001c0001t0037g0065
a0001c0001t0037g0065
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.355+16527_355+1654
others(18): Show 
c.355+16527_355+16540delAAAAAAAAAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105772063
chr7:105772316 C
C
 T
T
 1 a0001c0001t0005g0027
a0001c0001t0005g0027
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.355+16288G>A
c.355+16288G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105772316
chr7:105772422 C
C
 T
T
 1 a0001c0001t0006g0197
a0001c0001t0006g0197
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.355+16182G>A
c.355+16182G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105772422
chr7:105772982 C
C
 T
T
 1 a0001c0001t0025g0240
a0001c0001t0025g0240
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.355+15622G>A
c.355+15622G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105772982
chr7:105773388 C
C
 T
T
 1 a0001c0001t0024g0077
a0001c0001t0024g0077
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.355+15216G>A
c.355+15216G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105773388
chr7:105773476 C
C
 A
A
 70 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
others(67): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0003g0071
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0156
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0005t0007g0209
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0032g0149
a0005c0011t0008g0092
 70 HG00673.hp1
HG00741.hp1
HG00741.hp2
others(67): Show 
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02129.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02300.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03540.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA18994.hp2
NA19003.hp1
NA19005.hp1
NA19030.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.355+15128G>T
c.355+15128G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105773476
chr7:105773602 A
A
 C
C
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.355+15002T>G
c.355+15002T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105773602
chr7:105773902 G
G
 A
A
 1 a0001c0001t0027g0008
a0001c0001t0027g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.355+14702C>T
c.355+14702C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105773902
chr7:105773931 G
G
 A
A
 1 a0001c0001t0006g0116
a0001c0001t0006g0116
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.355+14673C>T
c.355+14673C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105773931
chr7:105773973 T
T
 C
C
 37 a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
others(34): Show 
a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0008t0014g0165
a0005c0011t0008g0092
 37 HG01257.hp2
HG01258.hp1
HG01346.hp1
others(34): Show 
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01934.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02129.hp1
HG02145.hp1
HG02148.hp1
HG02165.hp2
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG03239.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18522.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+14631A>G
c.355+14631A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105773973
chr7:105774045 G
G
 A
A
 1 a0001c0001t0019g0063
a0001c0001t0019g0063
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.355+14559C>T
c.355+14559C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105774045
chr7:105774238 T
T
 C
C
 34 a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
others(31): Show 
a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0053
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0006g0001
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0011g0152
a0001c0001t0012g0115
a0001c0001t0013g0243
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0045g0190
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0007t0038g0158
a0002c0002t0030g0208
a0003c0003t0020g0199
 34 HG00558.hp2
HG01069.hp1
HG01167.hp2
others(31): Show 
HG00558.hp2
HG01069.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp2
HG01255.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02056.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02523.hp1
HG02738.hp2
HG02896.hp2
HG04199.hp1
NA18943.hp1
NA18948.hp1
NA19005.hp2
NA19043.hp1
NA19067.hp2
NA19074.hp2
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+14366A>G
c.355+14366A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105774238
chr7:105774274 C
C
 G
G
 149 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(146): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 149 HG00558.hp1
HG00642.hp1
HG00673.hp1
others(146): Show 
HG00558.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+14330G>C
c.355+14330G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105774274
chr7:105774353 C
C
 CT
CT
 154 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0078
others(151): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0027g0134
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0003c0003t0020g0199
a0005c0011t0008g0092
a0007c0009t0007g0096
 154 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(151): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01081.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp2
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+14250dupA
c.355+14250dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105774353
chr7:105774353 C
C
 CTT
CTT
 17 a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0003g0071
others(14): Show 
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0003g0071
a0001c0001t0006g0022
a0001c0001t0007g0217
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0010g0228
a0001c0001t0013g0156
a0001c0001t0017g0213
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0040g0207
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0005t0007g0209
a0002c0002t0030g0208
 17 HG01884.hp2
HG01891.hp1
HG02630.hp1
others(14): Show 
HG01884.hp2
HG01891.hp1
HG02630.hp1
HG02647.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03098.hp2
HG03225.hp2
HG03471.hp1
HG03540.hp1
HG06807.hp1
NA19030.hp1
NA19043.hp1
NA19067.hp2
 intron_variant MODIFIER c.355+14249_355+1425
others(6): Show 
c.355+14249_355+14250dupAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105774353
chr7:105774455 G
G
 A
A
 3 a0001c0001t0006g0116
a0001c0001t0017g0113
a0006c0010t0031g0204
a0001c0001t0006g0116
a0001c0001t0017g0113
a0006c0010t0031g0204
 3 HG03209.hp2
HG03579.hp2
NA19043.hp2
HG03209.hp2
HG03579.hp2
NA19043.hp2
 intron_variant MODIFIER c.355+14149C>T
c.355+14149C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105774455
chr7:105774500 T
T
 C
C
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.355+14104A>G
c.355+14104A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105774500
chr7:105774562 A
A
 G
G
 37 a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
others(34): Show 
a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0008t0014g0165
a0005c0011t0008g0092
 37 HG01257.hp2
HG01258.hp1
HG01346.hp1
others(34): Show 
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01934.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02129.hp1
HG02145.hp1
HG02148.hp1
HG02165.hp2
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG03239.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18522.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+14042T>C
c.355+14042T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105774562
chr7:105774668 A
A
 G
G
 33 a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0001g0222
others(30): Show 
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0001g0222
a0001c0001t0002g0048
a0001c0001t0002g0187
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0011g0101
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0017g0113
a0001c0001t0018g0058
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0027g0134
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0044g0110
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0033g0221
a0006c0010t0031g0204
a0007c0009t0007g0096
 33 HG00673.hp1
HG01074.hp2
HG01243.hp1
others(30): Show 
HG00673.hp1
HG01074.hp2
HG01243.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02155.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp1
NA18945.hp2
NA18950.hp2
NA18994.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+13936T>C
c.355+13936T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105774668
chr7:105774904 G
G
 A
A
 183 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(180): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 183 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(180): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01081.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+13700C>T
c.355+13700C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105774904
chr7:105774924 C
C
 T
T
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+13680G>A
c.355+13680G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105774924
chr7:105775175 C
C
 T
T
 2 a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0020g0169
a0001c0001t0031g0172
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.355+13429G>A
c.355+13429G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105775175
chr7:105775320 A
A
 C
C
 1 a0001c0001t0004g0135
a0001c0001t0004g0135
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.355+13284T>G
c.355+13284T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105775320
chr7:105775465 G
G
 C
C
 81 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0119
others(78): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0176
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0027g0008
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0003c0003t0020g0199
 81 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(78): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp2
HG02083.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02523.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03139.hp2
HG03225.hp2
HG03471.hp1
HG03540.hp1
HG04199.hp1
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18948.hp1
NA18957.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+13139C>G
c.355+13139C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105775465
chr7:105775530 C
C
 T
T
 1 a0001c0001t0004g0211
a0001c0001t0004g0211
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.355+13074G>A
c.355+13074G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105775530
chr7:105775608 C
C
 T
T
 49 a0001c0001t0001g0005
a0001c0001t0001g0080
a0001c0001t0001g0081
others(46): Show 
a0001c0001t0001g0005
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0235
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0018g0058
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0027g0134
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0055g0252
a0001c0001t0062g0007
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0007c0009t0007g0096
 49 HG01074.hp2
HG01175.hp2
HG01243.hp1
others(46): Show 
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
NA18522.hp2
NA18906.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+12996G>A
c.355+12996G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105775608
chr7:105775668 C
C
 G
G
 1 a0001c0001t0010g0091
a0001c0001t0010g0091
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.355+12936G>C
c.355+12936G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105775668
chr7:105775985 G
G
 A
A
 2 a0001c0001t0004g0128
a0001c0001t0012g0244
a0001c0001t0004g0128
a0001c0001t0012g0244
 2 HG01243.hp2
HG01255.hp1
HG01243.hp2
HG01255.hp1
 intron_variant MODIFIER c.355+12619C>T
c.355+12619C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105775985
chr7:105776001 C
C
 T
T
 1 a0001c0001t0012g0052
a0001c0001t0012g0052
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.355+12603G>A
c.355+12603G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105776001
chr7:105776114 C
C
 A
A
 120 a0001c0001t0001g0003
a0001c0001t0001g0078
a0001c0001t0001g0088
others(117): Show 
a0001c0001t0001g0003
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0217
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0176
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0027g0008
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0003c0003t0020g0199
a0005c0011t0008g0092
 120 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(117): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp2
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+12490G>T
c.355+12490G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105776114
chr7:105776493 A
A
 AC
AC
 25 a0001c0001t0001g0145
a0001c0001t0002g0010
a0001c0001t0002g0016
others(22): Show 
a0001c0001t0001g0145
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0004g0211
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0010g0228
a0001c0001t0012g0052
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0013g0243
a0001c0001t0016g0176
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0023g0183
a0001c0007t0038g0158
 25 HG00735.hp2
HG01167.hp1
HG01192.hp2
others(22): Show 
HG00735.hp2
HG01167.hp1
HG01192.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG02027.hp1
HG02132.hp2
HG02165.hp1
HG02523.hp1
HG02630.hp1
HG02738.hp1
HG02896.hp1
HG03239.hp2
HG03540.hp1
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18943.hp1
NA19043.hp2
NA19067.hp2
NA19091.hp1
 intron_variant MODIFIER c.355+12110dupG
c.355+12110dupG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105776493
chr7:105776493 AC
AC
 A
A
 116 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0078
others(113): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 116 HG00558.hp1
HG00642.hp1
HG00673.hp2
others(113): Show 
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp2
HG01978.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02083.hp2
HG02132.hp1
HG02145.hp1
HG02148.hp1
HG02165.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03831.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+12110delG
c.355+12110delG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105776493
chr7:105776653 T
T
 A
A
 3 a0001c0001t0004g0211
a0001c0001t0034g0068
a0001c0001t0052g0133
a0001c0001t0004g0211
a0001c0001t0034g0068
a0001c0001t0052g0133
 3 HG02572.hp1
HG03516.hp2
NA18522.hp1
HG02572.hp1
HG03516.hp2
NA18522.hp1
 intron_variant MODIFIER c.355+11951A>T
c.355+11951A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105776653
chr7:105776737 G
G
 A
A
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.355+11867C>T
c.355+11867C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105776737
chr7:105776882 G
G
 A
A
 9 a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0048
others(6): Show 
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0048
a0001c0001t0002g0187
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0011g0101
a0001c0001t0024g0077
 9 HG00673.hp1
HG02015.hp1
HG02055.hp2
others(6): Show 
HG00673.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02155.hp1
HG03688.hp1
NA18945.hp2
NA18950.hp2
NA18994.hp2
 intron_variant MODIFIER c.355+11722C>T
c.355+11722C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105776882
chr7:105777018 C
C
 A
A
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.355+11586G>T
c.355+11586G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105777018
chr7:105777216 T
T
 C
C
 4 a0001c0001t0001g0059
a0001c0001t0008g0073
a0001c0001t0012g0028
others(1): Show 
a0001c0001t0001g0059
a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0015g0060
 4 HG00642.hp2
HG01168.hp2
HG01169.hp1
others(1): Show 
HG00642.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
 intron_variant MODIFIER c.355+11388A>G
c.355+11388A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105777216
chr7:105777285 C
C
 T
T
 11 a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0003g0071
others(8): Show 
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0003g0071
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0010g0228
a0001c0001t0017g0213
a0001c0001t0029g0215
a0001c0001t0053g0031
a0001c0005t0007g0209
a0002c0002t0032g0149
 11 HG01884.hp2
HG01891.hp1
HG02630.hp1
others(8): Show 
HG01884.hp2
HG01891.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG03471.hp1
HG03540.hp1
HG06807.hp1
NA19030.hp1
 intron_variant MODIFIER c.355+11319G>A
c.355+11319G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105777285
chr7:105777312 T
T
 C
C
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.355+11292A>G
c.355+11292A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105777312
chr7:105777412 C
C
 T
T
 1 a0001c0001t0004g0023
a0001c0001t0004g0023
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.355+11192G>A
c.355+11192G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105777412
chr7:105777485 G
G
 A
A
 9 a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0048
others(6): Show 
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0002g0048
a0001c0001t0002g0187
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0011g0101
a0001c0001t0024g0077
 9 HG00673.hp1
HG02015.hp1
HG02055.hp2
others(6): Show 
HG00673.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02155.hp1
HG03688.hp1
NA18945.hp2
NA18950.hp2
NA18994.hp2
 intron_variant MODIFIER c.355+11119C>T
c.355+11119C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105777485
chr7:105777563 C
C
 T
T
 29 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0021
others(26): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0012g0244
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0054g0087
 29 HG00558.hp1
HG00642.hp1
HG00673.hp2
others(26): Show 
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG01081.hp1
HG01243.hp2
HG01255.hp1
HG01891.hp2
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02083.hp2
HG02132.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18957.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19060.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.355+11041G>A
c.355+11041G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105777563
chr7:105777658 C
C
 T
T
 1 a0001c0001t0004g0211
a0001c0001t0004g0211
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.355+10946G>A
c.355+10946G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105777658
chr7:105777670 C
C
 T
T
 15 a0001c0001t0001g0222
a0001c0001t0006g0117
a0001c0001t0006g0197
others(12): Show 
a0001c0001t0001g0222
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0018g0058
a0001c0001t0021g0130
a0001c0001t0027g0134
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0044g0110
a0002c0002t0030g0212
a0007c0009t0007g0096
 15 HG01243.hp1
HG02280.hp2
HG02451.hp1
others(12): Show 
HG01243.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp2
HG02630.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03471.hp2
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+10934G>A
c.355+10934G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105777670
chr7:105777789 C
C
 T
T
 29 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0021
others(26): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0012g0244
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0054g0087
 29 HG00558.hp1
HG00642.hp1
HG00673.hp2
others(26): Show 
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG01081.hp1
HG01243.hp2
HG01255.hp1
HG01891.hp2
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02083.hp2
HG02132.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18957.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19060.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.355+10815G>A
c.355+10815G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105777789
chr7:105777892 T
T
 C
C
 182 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(179): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 182 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(179): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01081.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+10712A>G
c.355+10712A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105777892
chr7:105777895 G
G
 A
A
 1 a0001c0001t0048g0132
a0001c0001t0048g0132
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.355+10709C>T
c.355+10709C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105777895
chr7:105777896 C
C
 T
T
 1 a0001c0001t0002g0010
a0001c0001t0002g0010
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.355+10708G>A
c.355+10708G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105777896
chr7:105777945 C
C
 T
T
 1 a0001c0001t0016g0136
a0001c0001t0016g0136
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.355+10659G>A
c.355+10659G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105777945
chr7:105778052 C
C
 T
T
 1 a0001c0001t0019g0063
a0001c0001t0019g0063
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.355+10552G>A
c.355+10552G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778052
chr7:105778344 C
C
 CA
CA
 55 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0145
others(52): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0211
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0045
a0001c0001t0008g0216
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0091
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0012g0244
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0032g0149
 55 HG00558.hp1
HG00642.hp1
HG00673.hp2
others(52): Show 
HG00558.hp1
HG00642.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01081.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02083.hp2
HG02132.hp1
HG02572.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG03139.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18957.hp1
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19030.hp1
NA19060.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp2
NA19240.hp1
 intron_variant MODIFIER c.355+10259dupT
c.355+10259dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778344
chr7:105778344 C
C
 CAA
CAA
 27 a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
others(24): Show 
a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0006g0001
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0010g0095
a0001c0001t0011g0152
a0001c0001t0012g0115
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0023g0183
a0001c0001t0028g0114
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0007t0038g0158
a0002c0002t0030g0208
a0003c0003t0020g0199
 27 HG00558.hp2
HG01069.hp1
HG01168.hp1
others(24): Show 
HG00558.hp2
HG01069.hp1
HG01168.hp1
HG01192.hp2
HG01255.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02056.hp2
HG02132.hp2
HG02145.hp2
HG02165.hp1
HG02523.hp1
HG02896.hp2
NA18943.hp1
NA19000.hp1
NA19043.hp1
NA19067.hp2
NA19074.hp2
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+10258_355+1025
others(6): Show 
c.355+10258_355+10259dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778344
chr7:105778344 CA
CA
 C
C
 46 a0001c0001t0001g0003
a0001c0001t0001g0085
a0001c0001t0001g0088
others(43): Show 
a0001c0001t0001g0003
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0017g0113
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0024g0077
a0001c0001t0031g0172
a0001c0001t0058g0018
a0001c0008t0014g0165
a0005c0011t0008g0092
a0006c0010t0031g0204
 46 HG00673.hp1
HG01257.hp2
HG01258.hp1
others(43): Show 
HG00673.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01934.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02071.hp1
HG02129.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA18994.hp2
NA19003.hp1
NA19005.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+10259delT
c.355+10259delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778344
chr7:105778380 T
T
 A
A
 182 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(179): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 182 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(179): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01081.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+10224A>T
c.355+10224A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778380
chr7:105778403 C
C
 T
T
 9 a0001c0001t0006g0168
a0001c0001t0015g0125
a0001c0001t0015g0140
others(6): Show 
a0001c0001t0006g0168
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0022g0224
a0002c0002t0022g0220
 9 HG00741.hp1
HG00741.hp2
HG01192.hp1
others(6): Show 
HG00741.hp1
HG00741.hp2
HG01192.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG02055.hp1
HG02723.hp2
NA19240.hp1
 intron_variant MODIFIER c.355+10201G>A
c.355+10201G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778403
chr7:105778510 C
C
 CA
CA
 57 a0001c0001t0001g0003
a0001c0001t0001g0078
a0001c0001t0001g0085
others(54): Show 
a0001c0001t0001g0003
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0198
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0248
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0012g0064
a0001c0001t0012g0244
a0001c0001t0014g0233
a0001c0001t0018g0131
a0001c0001t0020g0169
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0031g0172
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0050g0155
a0001c0001t0058g0018
a0001c0006t0001g0112
a0001c0008t0014g0165
a0005c0011t0008g0092
 57 HG00558.hp1
HG00642.hp1
HG00673.hp1
others(54): Show 
HG00558.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG01081.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp2
HG01978.hp2
HG02015.hp1
HG02015.hp2
HG02083.hp2
HG02132.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02602.hp1
HG02602.hp2
HG02735.hp1
HG02735.hp2
HG03139.hp2
HG03491.hp1
HG03491.hp2
HG03831.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18957.hp1
NA18962.hp1
NA18989.hp2
NA18994.hp2
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.355+10093dupT
c.355+10093dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778510
chr7:105778510 C
C
 CAA
CAA
 12 a0001c0001t0001g0026
a0001c0001t0001g0088
a0001c0001t0002g0002
others(9): Show 
a0001c0001t0001g0026
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0005g0206
a0001c0001t0010g0051
a0001c0001t0011g0012
a0001c0001t0011g0164
a0001c0001t0015g0019
a0001c0001t0018g0046
a0001c0001t0056g0210
 12 HG02027.hp2
HG02055.hp2
HG02071.hp1
others(9): Show 
HG02027.hp2
HG02055.hp2
HG02071.hp1
HG02129.hp1
HG03225.hp2
HG03688.hp1
HG03942.hp1
HG03942.hp2
NA18970.hp1
NA18970.hp2
NA19085.hp2
NA19088.hp2
 intron_variant MODIFIER c.355+10092_355+1009
others(6): Show 
c.355+10092_355+10093dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778510
chr7:105778510 C
C
 CAAA
CAAA
 6 a0001c0001t0009g0013
a0001c0001t0010g0095
a0001c0001t0011g0170
others(3): Show 
a0001c0001t0009g0013
a0001c0001t0010g0095
a0001c0001t0011g0170
a0001c0001t0017g0113
a0001c0001t0034g0068
a0001c0001t0052g0133
 6 HG02572.hp1
HG03209.hp2
HG03239.hp2
others(3): Show 
HG02572.hp1
HG03209.hp2
HG03239.hp2
HG03516.hp2
NA18950.hp1
NA19000.hp1
 intron_variant MODIFIER c.355+10091_355+1009
others(7): Show 
c.355+10091_355+10093dupTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778510
chr7:105778522 A
A
 AAC
AAC
 12 a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0003g0071
others(9): Show 
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0003g0071
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0010g0228
a0001c0001t0017g0213
a0001c0001t0029g0215
a0001c0001t0053g0031
a0001c0005t0007g0209
a0002c0002t0032g0149
 12 HG00741.hp1
HG01884.hp2
HG01891.hp1
others(9): Show 
HG00741.hp1
HG01884.hp2
HG01891.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG03471.hp1
HG03540.hp1
HG06807.hp1
NA19030.hp1
 intron_variant MODIFIER c.355+10081_355+1008
others(6): Show 
c.355+10081_355+10082insGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778522
chr7:105778522 A
A
 AC
AC
 4 a0001c0001t0002g0010
a0001c0001t0002g0231
a0001c0001t0003g0011
others(1): Show 
a0001c0001t0002g0010
a0001c0001t0002g0231
a0001c0001t0003g0011
a0001c0001t0008g0175
 4 HG01433.hp2
HG01496.hp2
NA18943.hp1
others(1): Show 
HG01433.hp2
HG01496.hp2
NA18943.hp1
NA19067.hp2
 intron_variant MODIFIER c.355+10081_355+1008
others(5): Show 
c.355+10081_355+10082insG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778522
chr7:105778525 A
A
 AAAC
AAAC
 22 a0001c0001t0001g0005
a0001c0001t0001g0222
a0001c0001t0001g0225
others(19): Show 
a0001c0001t0001g0005
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0004g0219
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0027g0134
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0062g0007
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0033g0221
a0007c0009t0007g0096
 22 HG01243.hp1
HG02280.hp2
HG02451.hp1
others(19): Show 
HG01243.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp2
HG02723.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp2
NA18522.hp2
NA18994.hp1
NA19000.hp2
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+10078_355+1007
others(7): Show 
c.355+10078_355+10079insGTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778525
chr7:105778525 A
A
 AAC
AAC
 22 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0003g0004
others(19): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0235
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0006g0067
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0016g0139
a0001c0001t0035g0151
a0001c0001t0040g0207
a0001c0001t0046g0138
a0001c0001t0055g0252
a0001c0001t0060g0192
 22 HG01175.hp2
HG01256.hp2
HG01258.hp2
others(19): Show 
HG01175.hp2
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG02145.hp1
HG02559.hp1
HG02622.hp1
HG02895.hp1
HG02895.hp2
HG03098.hp2
HG03239.hp1
HG03669.hp1
NA18906.hp1
NA18971.hp2
NA19009.hp1
NA19010.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+10078_355+1007
others(6): Show 
c.355+10078_355+10079insGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778525
chr7:105778525 A
A
 AC
AC
 5 a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0004g0137
others(2): Show 
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0004g0137
a0001c0001t0006g0116
a0002c0002t0059g0200
 5 HG02451.hp2
HG02647.hp2
HG03041.hp1
others(2): Show 
HG02451.hp2
HG02647.hp2
HG03041.hp1
HG03579.hp1
NA19043.hp2
 intron_variant MODIFIER c.355+10078_355+1007
others(5): Show 
c.355+10078_355+10079insG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778525
chr7:105778525 A
A
 C
C
 1 a0002c0002t0032g0226
a0002c0002t0032g0226
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.355+10079T>G
c.355+10079T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778525
chr7:105778529 A
A
 AAC
AAC
 8 a0001c0001t0001g0181
a0001c0001t0015g0125
a0001c0001t0015g0140
others(5): Show 
a0001c0001t0001g0181
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0029g0072
a0002c0002t0022g0220
 8 HG00741.hp2
HG01192.hp1
HG01261.hp2
others(5): Show 
HG00741.hp2
HG01192.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
 intron_variant MODIFIER c.355+10074_355+1007
others(6): Show 
c.355+10074_355+10075insGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778529
chr7:105778529 A
A
 AC
AC
 23 a0001c0001t0001g0119
a0001c0001t0002g0016
a0001c0001t0002g0177
others(20): Show 
a0001c0001t0001g0119
a0001c0001t0002g0016
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0011g0152
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0028g0114
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0063g0041
a0002c0002t0030g0208
a0003c0003t0020g0199
 23 HG00558.hp2
HG01069.hp1
HG01168.hp1
others(20): Show 
HG00558.hp2
HG01069.hp1
HG01168.hp1
HG01192.hp2
HG01255.hp2
HG01358.hp1
HG01943.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02523.hp1
HG02896.hp2
HG04199.hp1
NA18948.hp1
NA18995.hp2
NA19043.hp1
NA19074.hp2
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+10074_355+1007
others(5): Show 
c.355+10074_355+10075insG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778529
chr7:105778529 A
A
 C
C
 19 a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0010
others(16): Show 
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0231
a0001c0001t0003g0011
a0001c0001t0003g0071
a0001c0001t0006g0001
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0010g0228
a0001c0001t0013g0243
a0001c0001t0017g0213
a0001c0001t0029g0215
a0001c0001t0053g0031
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0032g0149
 19 HG00741.hp1
HG01433.hp2
HG01496.hp2
others(16): Show 
HG00741.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01943.hp2
HG02056.hp2
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG03471.hp1
HG03540.hp1
HG06807.hp1
NA18943.hp1
NA19030.hp1
NA19067.hp2
 intron_variant MODIFIER c.355+10075T>G
c.355+10075T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778529
chr7:105778535 A
A
 C
C
 15 a0001c0001t0001g0005
a0001c0001t0001g0080
a0001c0001t0001g0081
others(12): Show 
a0001c0001t0001g0005
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0235
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0006g0067
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0035g0151
a0001c0001t0055g0252
a0001c0001t0062g0007
 15 HG01175.hp2
HG01256.hp2
HG01258.hp2
others(12): Show 
HG01175.hp2
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG03239.hp1
HG03669.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+10069T>G
c.355+10069T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778535
chr7:105778536 C
C
 A
A
 3 a0001c0001t0004g0211
a0001c0001t0034g0068
a0001c0001t0052g0133
a0001c0001t0004g0211
a0001c0001t0034g0068
a0001c0001t0052g0133
 3 HG02572.hp1
HG03516.hp2
NA18522.hp1
HG02572.hp1
HG03516.hp2
NA18522.hp1
 intron_variant MODIFIER c.355+10068G>T
c.355+10068G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778536
chr7:105778540 G
G
 A
A
 84 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0119
others(81): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0176
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0027g0008
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0003c0003t0020g0199
 84 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(81): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp2
HG02083.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02523.hp1
HG02572.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03139.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18948.hp1
NA18957.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+10064C>T
c.355+10064C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105778540
chr7:105779075 G
G
 A
A
 35 a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
others(32): Show 
a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0058g0018
a0001c0008t0014g0165
a0005c0011t0008g0092
 35 HG01257.hp2
HG01258.hp1
HG01346.hp1
others(32): Show 
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01934.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02129.hp1
HG02148.hp1
HG02165.hp2
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG03239.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+9529C>T
c.355+9529C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105779075
chr7:105779273 A
A
 G
G
 1 a0001c0001t0004g0246
a0001c0001t0004g0246
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.355+9331T>C
c.355+9331T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105779273
chr7:105779447 A
A
 T
T
 3 a0001c0001t0002g0179
a0001c0001t0013g0251
a0001c0001t0019g0178
a0001c0001t0002g0179
a0001c0001t0013g0251
a0001c0001t0019g0178
 3 HG01934.hp1
NA18954.hp2
NA20300.hp1
HG01934.hp1
NA18954.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+9157T>A
c.355+9157T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105779447
chr7:105779484 G
G
 A
A
 37 a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
others(34): Show 
a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0017g0113
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0058g0018
a0001c0008t0014g0165
a0005c0011t0008g0092
a0006c0010t0031g0204
 37 HG01257.hp2
HG01258.hp1
HG01346.hp1
others(34): Show 
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01934.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02129.hp1
HG02148.hp1
HG02165.hp2
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG03209.hp2
HG03239.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+9120C>T
c.355+9120C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105779484
chr7:105779697 G
G
 A
A
 11 a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0003g0071
others(8): Show 
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0003g0071
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0010g0228
a0001c0001t0017g0213
a0001c0001t0029g0215
a0001c0001t0053g0031
a0001c0005t0007g0209
a0002c0002t0032g0149
 11 HG01884.hp2
HG01891.hp1
HG02630.hp1
others(8): Show 
HG01884.hp2
HG01891.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG03471.hp1
HG03540.hp1
HG06807.hp1
NA19030.hp1
 intron_variant MODIFIER c.355+8907C>T
c.355+8907C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105779697
chr7:105779791 C
C
 T
T
 4 a0001c0001t0001g0059
a0001c0001t0008g0073
a0001c0001t0012g0028
others(1): Show 
a0001c0001t0001g0059
a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0015g0060
 4 HG00642.hp2
HG01168.hp2
HG01169.hp1
others(1): Show 
HG00642.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
 intron_variant MODIFIER c.355+8813G>A
c.355+8813G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105779791
chr7:105779823 T
T
 C
C
 84 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0119
others(81): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0091
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0176
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0027g0008
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0003c0003t0020g0199
 84 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(81): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02056.hp2
HG02083.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02523.hp1
HG02572.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03139.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18948.hp1
NA18957.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+8781A>G
c.355+8781A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105779823
chr7:105780025 C
C
 T
T
 1 a0001c0001t0008g0075
a0001c0001t0008g0075
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.355+8579G>A
c.355+8579G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105780025
chr7:105780185 G
G
 T
T
 1 a0001c0007t0038g0158
a0001c0007t0038g0158
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.355+8419C>A
c.355+8419C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105780185
chr7:105780215 C
C
 T
T
 1 a0001c0001t0004g0135
a0001c0001t0004g0135
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.355+8389G>A
c.355+8389G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105780215
chr7:105780300 C
C
 T
T
 1 a0001c0001t0009g0013
a0001c0001t0009g0013
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.355+8304G>A
c.355+8304G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105780300
chr7:105780312 G
G
 T
T
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.355+8292C>A
c.355+8292C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105780312
chr7:105780404 C
C
 T
T
 30 a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
others(27): Show 
a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0006g0001
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0011g0152
a0001c0001t0012g0115
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0029g0072
a0001c0001t0045g0190
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0007t0038g0158
a0002c0002t0030g0208
a0003c0003t0020g0199
 30 HG00558.hp2
HG01069.hp1
HG01168.hp1
others(27): Show 
HG00558.hp2
HG01069.hp1
HG01168.hp1
HG01192.hp2
HG01255.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02056.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02523.hp1
HG02738.hp2
HG02896.hp2
HG04199.hp1
NA18943.hp1
NA18948.hp1
NA19067.hp2
NA19074.hp2
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+8200G>A
c.355+8200G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105780404
chr7:105780503 T
T
 G
G
 2 a0001c0001t0002g0186
a0001c0012t0003g0047
a0001c0001t0002g0186
a0001c0012t0003g0047
 2 NA18945.hp1
NA19054.hp2
NA18945.hp1
NA19054.hp2
 intron_variant MODIFIER c.355+8101A>C
c.355+8101A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105780503
chr7:105780743 G
G
 T
T
 1 a0001c0001t0008g0216
a0001c0001t0008g0216
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.355+7861C>A
c.355+7861C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105780743
chr7:105780858 C
C
 T
T
 3 a0001c0001t0004g0211
a0001c0001t0034g0068
a0001c0001t0052g0133
a0001c0001t0004g0211
a0001c0001t0034g0068
a0001c0001t0052g0133
 3 HG02572.hp1
HG03516.hp2
NA18522.hp1
HG02572.hp1
HG03516.hp2
NA18522.hp1
 intron_variant MODIFIER c.355+7746G>A
c.355+7746G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105780858
chr7:105780977 G
G
 A
A
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.355+7627C>T
c.355+7627C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105780977
chr7:105780999 C
C
 T
T
 30 a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
others(27): Show 
a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0006g0001
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0011g0152
a0001c0001t0012g0115
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0029g0072
a0001c0001t0045g0190
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0007t0038g0158
a0002c0002t0030g0208
a0003c0003t0020g0199
 30 HG00558.hp2
HG01069.hp1
HG01168.hp1
others(27): Show 
HG00558.hp2
HG01069.hp1
HG01168.hp1
HG01192.hp2
HG01255.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02056.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02523.hp1
HG02738.hp2
HG02896.hp2
HG04199.hp1
NA18943.hp1
NA18948.hp1
NA19067.hp2
NA19074.hp2
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+7605G>A
c.355+7605G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105780999
chr7:105781051 C
C
 G
G
 1 a0001c0001t0014g0233
a0001c0001t0014g0233
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.355+7553G>C
c.355+7553G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105781051
chr7:105781067 G
G
 A
A
 37 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0181
others(34): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0181
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0006g0168
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0012g0244
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0043g0105
a0001c0001t0054g0087
a0002c0002t0022g0220
 37 HG00558.hp1
HG00642.hp1
HG00741.hp1
others(34): Show 
HG00558.hp1
HG00642.hp1
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01515.hp2
HG01517.hp2
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02083.hp2
HG02132.hp1
HG02723.hp2
HG02818.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18957.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19060.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp2
NA19240.hp1
 intron_variant MODIFIER c.355+7537C>T
c.355+7537C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105781067
chr7:105781122 T
T
 C
C
 179 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(176): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 179 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(176): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01081.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+7482A>G
c.355+7482A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105781122
chr7:105781245 A
A
 AC
AC
 88 a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0085
others(85): Show 
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0007g0217
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0176
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0003c0003t0020g0199
 88 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(85): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02523.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03471.hp1
HG03540.hp1
HG03688.hp1
HG04199.hp1
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18957.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19030.hp1
NA19043.hp2
NA19060.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+7358dupG
c.355+7358dupG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105781245
chr7:105781267 T
T
 A
A
 27 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0021
others(24): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0157
a0001c0001t0012g0244
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0043g0105
a0001c0001t0054g0087
 27 HG00558.hp1
HG00642.hp1
HG01081.hp1
others(24): Show 
HG00558.hp1
HG00642.hp1
HG01081.hp1
HG01243.hp2
HG01255.hp1
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02083.hp2
HG02132.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18957.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19060.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.355+7337A>T
c.355+7337A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105781267
chr7:105781312 A
A
 G
G
 51 a0001c0001t0001g0005
a0001c0001t0001g0080
a0001c0001t0001g0081
others(48): Show 
a0001c0001t0001g0005
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0235
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0018g0058
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0055g0252
a0001c0001t0060g0192
a0001c0001t0062g0007
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0007c0009t0007g0096
 51 HG01074.hp2
HG01175.hp2
HG01243.hp1
others(48): Show 
HG01074.hp2
HG01175.hp2
HG01243.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
NA18522.hp2
NA18906.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+7292T>C
c.355+7292T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105781312
chr7:105781529 G
G
 T
T
 174 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(171): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0005c0011t0008g0092
a0007c0009t0007g0096
 174 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(171): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01081.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+7075C>A
c.355+7075C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105781529
chr7:105781659 CTTT
CTTT
 C
C
 33 a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
others(30): Show 
a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0003g0171
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0058g0018
a0001c0008t0014g0165
a0005c0011t0008g0092
 33 HG01257.hp2
HG01258.hp1
HG01346.hp1
others(30): Show 
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01934.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02129.hp1
HG02148.hp1
HG02165.hp2
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG03239.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19074.hp1
NA19085.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+6942_355+6944d
others(5): Show 
c.355+6942_355+6944delAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105781659
chr7:105781764 C
C
 T
T
 28 a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
others(25): Show 
a0001c0001t0001g0119
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0177
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0006g0001
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0011g0152
a0001c0001t0012g0115
a0001c0001t0014g0166
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0029g0072
a0001c0001t0045g0190
a0001c0001t0057g0229
a0001c0001t0063g0041
a0001c0007t0038g0158
a0003c0003t0020g0199
 28 HG00558.hp2
HG01069.hp1
HG01168.hp1
others(25): Show 
HG00558.hp2
HG01069.hp1
HG01168.hp1
HG01192.hp2
HG01255.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02056.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp1
HG02523.hp1
HG02738.hp2
HG04199.hp1
NA18943.hp1
NA18948.hp1
NA19067.hp2
NA19074.hp2
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+6840G>A
c.355+6840G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105781764
chr7:105781855 A
A
 C
C
 1 a0001c0001t0003g0150
a0001c0001t0003g0150
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.355+6749T>G
c.355+6749T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105781855
chr7:105781916 T
T
 C
C
 2 a0001c0001t0001g0222
a0001c0001t0008g0075
a0001c0001t0001g0222
a0001c0001t0008g0075
 2 HG02280.hp2
HG03130.hp2
HG02280.hp2
HG03130.hp2
 intron_variant MODIFIER c.355+6688A>G
c.355+6688A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105781916
chr7:105781973 G
G
 A
A
 1 a0001c0004t0010g0154
a0001c0004t0010g0154
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.355+6631C>T
c.355+6631C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105781973
chr7:105782033 A
A
 G
G
 3 a0001c0001t0004g0211
a0001c0001t0034g0068
a0001c0001t0052g0133
a0001c0001t0004g0211
a0001c0001t0034g0068
a0001c0001t0052g0133
 3 HG02572.hp1
HG03516.hp2
NA18522.hp1
HG02572.hp1
HG03516.hp2
NA18522.hp1
 intron_variant MODIFIER c.355+6571T>C
c.355+6571T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105782033
chr7:105782129 T
T
 C
C
 35 a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
others(32): Show 
a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0003g0171
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0011g0012
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0027g0008
a0001c0001t0031g0172
a0001c0001t0058g0018
a0001c0008t0014g0165
a0005c0011t0008g0092
 35 HG00735.hp2
HG01257.hp2
HG01258.hp1
others(32): Show 
HG00735.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01934.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02129.hp1
HG02148.hp1
HG02165.hp2
HG02300.hp1
HG02735.hp2
HG02738.hp1
HG03139.hp2
HG03239.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19074.hp1
NA19085.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+6475A>G
c.355+6475A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105782129
chr7:105782481 G
G
 A
A
 1 a0001c0001t0029g0215
a0001c0001t0029g0215
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.355+6123C>T
c.355+6123C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105782481
chr7:105782746 C
C
 G
G
 74 a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0001g0119
others(71): Show 
a0001c0001t0001g0003
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0004g0135
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0045g0190
a0001c0001t0052g0133
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0063g0041
a0001c0007t0038g0158
a0001c0008t0014g0165
a0003c0003t0020g0199
a0005c0011t0008g0092
 74 HG00558.hp2
HG00642.hp1
HG01069.hp1
others(71): Show 
HG00558.hp2
HG00642.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02896.hp1
HG03239.hp2
HG03516.hp2
HG03540.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
NA18943.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19088.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+5858G>C
c.355+5858G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105782746
chr7:105782804 A
A
 G
G
 183 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(180): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 183 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(180): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+5800T>C
c.355+5800T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105782804
chr7:105782888 C
C
 A
A
 2 a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0025g0104
a0001c0001t0025g0240
 2 HG01516.hp1
HG03490.hp1
HG01516.hp1
HG03490.hp1
 intron_variant MODIFIER c.355+5716G>T
c.355+5716G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105782888
chr7:105782987 T
T
 C
C
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.355+5617A>G
c.355+5617A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105782987
chr7:105783295 C
C
 T
T
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.355+5309G>A
c.355+5309G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105783295
chr7:105783306 T
T
 C
C
 2 a0001c0001t0027g0008
a0006c0010t0031g0204
a0001c0001t0027g0008
a0006c0010t0031g0204
 2 HG03139.hp2
HG03579.hp2
HG03139.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+5298A>G
c.355+5298A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105783306
chr7:105783311 C
C
 T
T
 2 a0001c0001t0027g0008
a0006c0010t0031g0204
a0001c0001t0027g0008
a0006c0010t0031g0204
 2 HG03139.hp2
HG03579.hp2
HG03139.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+5293G>A
c.355+5293G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105783311
chr7:105783393 G
G
 A
A
 1 a0001c0001t0004g0211
a0001c0001t0004g0211
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.355+5211C>T
c.355+5211C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105783393
chr7:105783485 G
G
 A
A
 1 a0001c0001t0027g0008
a0001c0001t0027g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.355+5119C>T
c.355+5119C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105783485
chr7:105783503 T
T
 C
C
 1 a0001c0001t0022g0224
a0001c0001t0022g0224
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.355+5101A>G
c.355+5101A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105783503
chr7:105783510 T
T
 C
C
 2 a0001c0001t0027g0008
a0006c0010t0031g0204
a0001c0001t0027g0008
a0006c0010t0031g0204
 2 HG03139.hp2
HG03579.hp2
HG03139.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+5094A>G
c.355+5094A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105783510
chr7:105783959 T
T
 G
G
 1 a0001c0001t0003g0029
a0001c0001t0003g0029
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.355+4645A>C
c.355+4645A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105783959
chr7:105783984 C
C
 CAGGG
CAGGG
 5 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(2): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0062g0007
 5 NA18971.hp2
NA18994.hp1
NA19000.hp2
others(2): Show 
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
 intron_variant MODIFIER c.355+4616_355+4619d
others(6): Show 
c.355+4616_355+4619dupCCCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105783984
chr7:105784310 C
C
 G
G
 2 a0001c0001t0027g0008
a0006c0010t0031g0204
a0001c0001t0027g0008
a0006c0010t0031g0204
 2 HG03139.hp2
HG03579.hp2
HG03139.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+4294G>C
c.355+4294G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105784310
chr7:105784435 A
A
 AAC
AAC
 38 a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0002g0002
others(35): Show 
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0002g0002
a0001c0001t0002g0049
a0001c0001t0002g0142
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0006g0022
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0012g0115
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0017g0194
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0029g0072
a0001c0001t0045g0190
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0063g0041
a0003c0003t0020g0199
 38 HG00558.hp2
HG00642.hp1
HG01069.hp1
others(35): Show 
HG00558.hp2
HG00642.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01255.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG01943.hp1
HG02027.hp1
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02523.hp1
HG02738.hp1
HG02738.hp2
HG02896.hp1
HG03239.hp2
HG03540.hp1
HG03942.hp1
HG04199.hp1
NA18970.hp1
NA18995.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19088.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.355+4167_355+4168d
others(4): Show 
c.355+4167_355+4168dupGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105784435
chr7:105784435 A
A
 AACACACA
others(3): Show 
AACACACACAC
 6 a0001c0001t0001g0181
a0001c0001t0006g0168
a0001c0001t0019g0062
others(3): Show 
a0001c0001t0001g0181
a0001c0001t0006g0168
a0001c0001t0019g0062
a0001c0001t0021g0184
a0001c0001t0022g0224
a0002c0002t0022g0220
 6 HG00741.hp1
HG00741.hp2
HG02055.hp1
others(3): Show 
HG00741.hp1
HG00741.hp2
HG02055.hp1
HG02723.hp2
HG02818.hp1
NA19240.hp1
 intron_variant MODIFIER c.355+4159_355+4168d
others(12): Show 
c.355+4159_355+4168dupGTGTGTGTGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105784435
chr7:105784435 AAC
AAC
 A
A
 6 a0001c0001t0006g0116
a0001c0001t0013g0156
a0001c0001t0015g0193
others(3): Show 
a0001c0001t0006g0116
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0034g0068
a0001c0001t0052g0133
a0001c0001t0056g0210
 6 HG01243.hp1
HG02572.hp1
HG02895.hp2
others(3): Show 
HG01243.hp1
HG02572.hp1
HG02895.hp2
HG03225.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.355+4167_355+4168d
others(4): Show 
c.355+4167_355+4168delGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105784435
chr7:105784449 C
C
 A
A
 1 a0001c0001t0011g0157
a0001c0001t0011g0157
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.355+4155G>T
c.355+4155G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105784449
chr7:105784458 A
A
 ACACACAC
others(17): Show 
ACACACACACACACACACACACACT
 1 a0006c0010t0031g0204
a0006c0010t0031g0204
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+4145_355+4146i
others(26): Show 
c.355+4145_355+4146insAGTGTGTGTGTGTGTGTGTGTGTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105784458
chr7:105784458 A
A
 ACACACAC
others(15): Show 
ACACACACACACACACACACACT
 1 a0001c0001t0027g0008
a0001c0001t0027g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.355+4145_355+4146i
others(24): Show 
c.355+4145_355+4146insAGTGTGTGTGTGTGTGTGTGTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105784458
chr7:105784581 C
C
 G
G
 33 a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0002g0002
others(30): Show 
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0004g0135
a0001c0001t0006g0022
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0152
a0001c0001t0012g0115
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0029g0072
a0001c0001t0045g0190
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0063g0041
a0003c0003t0020g0199
 33 HG00558.hp2
HG00642.hp1
HG01069.hp1
others(30): Show 
HG00558.hp2
HG00642.hp1
HG01069.hp1
HG01081.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG01943.hp1
HG02027.hp1
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02523.hp1
HG02738.hp1
HG02738.hp2
HG02896.hp1
HG03239.hp2
HG03540.hp1
HG03942.hp1
HG04199.hp1
NA18970.hp1
NA18995.hp2
NA19074.hp2
NA19088.hp2
NA20300.hp2
 intron_variant MODIFIER c.355+4023G>C
c.355+4023G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105784581
chr7:105784604 C
C
 T
T
 22 a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0021
others(19): Show 
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0003g0029
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0023
a0001c0001t0004g0128
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0012g0244
a0001c0001t0018g0131
a0001c0001t0043g0105
 22 HG00558.hp1
HG01243.hp2
HG01255.hp1
others(19): Show 
HG00558.hp1
HG01243.hp2
HG01255.hp1
HG01934.hp2
HG02015.hp2
HG02083.hp2
HG02132.hp1
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18957.hp1
NA19000.hp1
NA19060.hp1
NA19066.hp2
NA19068.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.355+4000G>A
c.355+4000G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105784604
chr7:105784702 G
G
 A
A
 1 a0001c0001t0007g0218
a0001c0001t0007g0218
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.355+3902C>T
c.355+3902C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105784702
chr7:105784862 C
C
 T
T
 1 a0001c0001t0004g0203
a0001c0001t0004g0203
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.355+3742G>A
c.355+3742G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105784862
chr7:105784996 G
G
 A
A
 1 a0001c0001t0023g0183
a0001c0001t0023g0183
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.355+3608C>T
c.355+3608C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105784996
chr7:105785122 G
G
 A
A
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.355+3482C>T
c.355+3482C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105785122
chr7:105785193 C
C
 T
T
 1 a0001c0001t0006g0116
a0001c0001t0006g0116
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.355+3411G>A
c.355+3411G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105785193
chr7:105785457 C
C
 CA
CA
 8 a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0006g0024
others(5): Show 
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0006g0024
a0001c0001t0006g0116
a0001c0001t0009g0097
a0001c0001t0042g0161
a0001c0001t0056g0210
a0001c0001t0064g0098
 8 HG01346.hp1
HG02135.hp2
HG03225.hp2
others(5): Show 
HG01346.hp1
HG02135.hp2
HG03225.hp2
HG04199.hp2
HG06807.hp1
NA19009.hp2
NA19010.hp1
NA19043.hp2
 intron_variant MODIFIER c.355+3146dupT
c.355+3146dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105785457
chr7:105785487 G
G
 A
A
 1 a0002c0002t0030g0208
a0002c0002t0030g0208
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.355+3117C>T
c.355+3117C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105785487
chr7:105785595 G
G
 GA
GA
 162 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(159): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0003c0003t0020g0199
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 162 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(159): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+3008dupT
c.355+3008dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105785595
chr7:105785666 C
C
 T
T
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.355+2938G>A
c.355+2938G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105785666
chr7:105785684 G
G
 A
A
 1 a0001c0001t0027g0008
a0001c0001t0027g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.355+2920C>T
c.355+2920C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105785684
chr7:105785710 G
G
 A
A
 1 a0001c0001t0019g0230
a0001c0001t0019g0230
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.355+2894C>T
c.355+2894C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105785710
chr7:105785776 TTC
TTC
 T
T
 20 a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0001g0214
others(17): Show 
a0001c0001t0001g0026
a0001c0001t0001g0085
a0001c0001t0001g0214
a0001c0001t0002g0048
a0001c0001t0002g0187
a0001c0001t0003g0071
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0011g0101
a0001c0001t0017g0113
a0001c0001t0024g0077
a0001c0001t0029g0215
a0001c0001t0053g0031
a0001c0001t0058g0018
a0001c0005t0007g0209
a0002c0002t0032g0149
 20 HG00673.hp1
HG01884.hp2
HG01891.hp1
others(17): Show 
HG00673.hp1
HG01884.hp2
HG01891.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02155.hp1
HG02647.hp1
HG02818.hp2
HG02965.hp2
HG03209.hp2
HG03471.hp1
HG03688.hp1
HG03831.hp1
HG06807.hp1
NA18945.hp2
NA18950.hp2
NA18994.hp2
NA19030.hp1
 intron_variant MODIFIER c.355+2826_355+2827d
others(4): Show 
c.355+2826_355+2827delGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105785776
chr7:105786054 C
C
 T
T
 1 a0001c0001t0006g0197
a0001c0001t0006g0197
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.355+2550G>A
c.355+2550G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105786054
chr7:105786076 G
G
 A
A
 1 a0001c0001t0013g0243
a0001c0001t0013g0243
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.355+2528C>T
c.355+2528C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105786076
chr7:105786165 C
C
 T
T
 2 a0001c0001t0018g0058
a0001c0001t0027g0008
a0001c0001t0018g0058
a0001c0001t0027g0008
 2 HG02572.hp2
HG03139.hp2
HG02572.hp2
HG03139.hp2
 intron_variant MODIFIER c.355+2439G>A
c.355+2439G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105786165
chr7:105786239 C
C
 T
T
 3 a0001c0001t0018g0058
a0001c0001t0027g0008
a0006c0010t0031g0204
a0001c0001t0018g0058
a0001c0001t0027g0008
a0006c0010t0031g0204
 3 HG02572.hp2
HG03139.hp2
HG03579.hp2
HG02572.hp2
HG03139.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+2365G>A
c.355+2365G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105786239
chr7:105786426 C
C
 CG
CG
 50 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0059
others(47): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0059
a0001c0001t0002g0010
a0001c0001t0002g0048
a0001c0001t0002g0187
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0004g0039
a0001c0001t0004g0198
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0067
a0001c0001t0007g0223
a0001c0001t0008g0175
a0001c0001t0009g0055
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0157
a0001c0001t0013g0129
a0001c0001t0015g0060
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0029g0215
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0049g0148
a0001c0001t0052g0133
a0001c0001t0054g0087
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0005t0007g0209
a0002c0002t0033g0221
a0005c0011t0008g0092
a0007c0009t0007g0096
 50 HG00642.hp2
HG00673.hp2
HG00735.hp1
others(47): Show 
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00741.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01496.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG03098.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp2
HG03688.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19030.hp1
NA19030.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19086.hp1
NA19086.hp2
 intron_variant MODIFIER c.355+2177dupC
c.355+2177dupC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105786426
chr7:105786426 C
C
 T
T
 3 a0001c0001t0018g0058
a0001c0001t0027g0008
a0006c0010t0031g0204
a0001c0001t0018g0058
a0001c0001t0027g0008
a0006c0010t0031g0204
 3 HG02572.hp2
HG03139.hp2
HG03579.hp2
HG02572.hp2
HG03139.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+2178G>A
c.355+2178G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105786426
chr7:105786483 T
T
 C
C
 2 a0001c0001t0017g0194
a0002c0002t0022g0066
a0001c0001t0017g0194
a0002c0002t0022g0066
 2 HG01074.hp1
HG03225.hp1
HG01074.hp1
HG03225.hp1
 intron_variant MODIFIER c.355+2121A>G
c.355+2121A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105786483
chr7:105786512 C
C
 T
T
 3 a0001c0001t0018g0058
a0001c0001t0027g0008
a0006c0010t0031g0204
a0001c0001t0018g0058
a0001c0001t0027g0008
a0006c0010t0031g0204
 3 HG02572.hp2
HG03139.hp2
HG03579.hp2
HG02572.hp2
HG03139.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+2092G>A
c.355+2092G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105786512
chr7:105786549 C
C
 A
A
 1 a0001c0001t0037g0065
a0001c0001t0037g0065
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.355+2055G>T
c.355+2055G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105786549
chr7:105786584 A
A
 T
T
 4 a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0016g0061
others(1): Show 
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0016g0061
a0001c0001t0049g0148
 4 HG00735.hp2
HG01099.hp1
HG01952.hp1
others(1): Show 
HG00735.hp2
HG01099.hp1
HG01952.hp1
HG02602.hp1
 intron_variant MODIFIER c.355+2020T>A
c.355+2020T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105786584
chr7:105786599 C
C
 G
G
 1 a0001c0001t0014g0233
a0001c0001t0014g0233
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.355+2005G>C
c.355+2005G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105786599
chr7:105786686 AT
AT
 A
A
 23 a0001c0001t0001g0088
a0001c0001t0002g0042
a0001c0001t0002g0160
others(20): Show 
a0001c0001t0001g0088
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0003g0171
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0008t0014g0165
a0005c0011t0008g0092
 23 HG01257.hp2
HG01258.hp1
HG01346.hp1
others(20): Show 
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01934.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02148.hp1
HG02165.hp2
HG02300.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA19003.hp1
NA19005.hp1
NA19054.hp1
NA19060.hp2
NA19067.hp1
NA19074.hp1
NA19085.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+1917delA
c.355+1917delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105786686
chr7:105786851 C
C
 G
G
 4 a0001c0001t0018g0058
a0001c0001t0027g0008
a0001c0001t0056g0210
others(1): Show 
a0001c0001t0018g0058
a0001c0001t0027g0008
a0001c0001t0056g0210
a0006c0010t0031g0204
 4 HG02572.hp2
HG03139.hp2
HG03225.hp2
others(1): Show 
HG02572.hp2
HG03139.hp2
HG03225.hp2
HG03579.hp2
 intron_variant MODIFIER c.355+1753G>C
c.355+1753G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105786851
chr7:105787020 GGCTCT
GGCTCT
 G
G
 7 a0001c0001t0001g0185
a0001c0001t0002g0053
a0001c0001t0002g0153
others(4): Show 
a0001c0001t0001g0185
a0001c0001t0002g0053
a0001c0001t0002g0153
a0001c0001t0003g0100
a0001c0001t0005g0159
a0001c0001t0042g0161
a0001c0001t0064g0098
 7 HG02071.hp2
HG02135.hp2
HG02155.hp2
others(4): Show 
HG02071.hp2
HG02135.hp2
HG02155.hp2
NA19005.hp2
NA19009.hp2
NA19010.hp1
NA19056.hp1
 intron_variant MODIFIER c.355+1579_355+1583d
others(7): Show 
c.355+1579_355+1583delAGAGC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787020
chr7:105787065 A
A
 ACCACCAG
others(2): Show 
ACCACCAGGC
 172 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(169): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 172 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(169): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+1538_355+1539i
others(11): Show 
c.355+1538_355+1539insGCCTGGTGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787065
chr7:105787066 G
G
 T
T
 172 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(169): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 172 HG00558.hp1
HG00558.hp2
HG00642.hp1
others(169): Show 
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+1538C>A
c.355+1538C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787066
chr7:105787119 A
A
 C
C
 116 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(113): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0010g0051
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0027g0134
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0007c0009t0007g0096
 116 HG00558.hp2
HG00642.hp1
HG00673.hp1
others(113): Show 
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18945.hp2
NA18950.hp2
NA18954.hp2
NA18970.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19074.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+1485T>G
c.355+1485T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787119
chr7:105787365 C
C
 T
T
 1 a0001c0001t0009g0146
a0001c0001t0009g0146
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.355+1239G>A
c.355+1239G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787365
chr7:105787382 G
G
 C
C
 1 a0001c0001t0044g0110
a0001c0001t0044g0110
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.355+1222C>G
c.355+1222C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787382
chr7:105787506 T
T
 A
A
 8 a0001c0001t0001g0214
a0001c0001t0007g0217
a0001c0001t0016g0069
others(5): Show 
a0001c0001t0001g0214
a0001c0001t0007g0217
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0053g0031
a0007c0009t0007g0096
 8 HG01884.hp2
HG02630.hp1
HG02630.hp2
others(5): Show 
HG01884.hp2
HG02630.hp1
HG02630.hp2
HG02965.hp2
HG03098.hp1
HG03130.hp1
HG06807.hp1
NA19030.hp1
 intron_variant MODIFIER c.355+1098A>T
c.355+1098A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787506
chr7:105787605 C
C
 T
T
 27 a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0088
others(24): Show 
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0088
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0248
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0020g0169
a0001c0001t0023g0247
a0001c0001t0031g0172
a0001c0008t0014g0165
 27 HG00741.hp1
HG01257.hp2
HG01258.hp1
others(24): Show 
HG00741.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01978.hp2
HG02135.hp1
HG02165.hp2
NA18943.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp1
NA19000.hp1
NA19003.hp1
NA19005.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA20300.hp1
 intron_variant MODIFIER c.355+999G>A
c.355+999G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787605
chr7:105787658 T
T
 C
C
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.355+946A>G
c.355+946A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787658
chr7:105787665 C
C
 T
T
 161 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(158): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0021
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0015g0060
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0134
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0003c0003t0005g0079
a0003c0003t0020g0199
a0005c0011t0008g0092
 161 HG00558.hp1
HG00673.hp1
HG00735.hp2
others(158): Show 
HG00558.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+939G>A
c.355+939G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787665
chr7:105787754 C
C
 T
T
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.355+850G>A
c.355+850G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787754
chr7:105787763 A
A
 T
T
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.355+841T>A
c.355+841T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787763
chr7:105787764 A
A
 T
T
 90 a0001c0001t0001g0005
a0001c0001t0001g0078
a0001c0001t0001g0080
others(87): Show 
a0001c0001t0001g0005
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0106
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0127
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0027
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0008g0045
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0012g0052
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0043g0105
a0001c0001t0047g0121
a0001c0001t0052g0133
a0001c0001t0057g0229
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0003c0003t0005g0079
a0005c0011t0008g0092
 90 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(87): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp2
HG02071.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02572.hp2
HG02622.hp2
HG02723.hp1
HG02738.hp2
HG02818.hp2
HG03225.hp1
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03669.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp2
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19060.hp2
NA19066.hp2
NA19068.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19091.hp1
NA19091.hp2
 intron_variant MODIFIER c.355+840T>A
c.355+840T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787764
chr7:105787872 T
T
 G
G
 2 a0001c0001t0015g0193
a0001c0001t0052g0133
a0001c0001t0015g0193
a0001c0001t0052g0133
 2 HG01243.hp1
HG03516.hp2
HG01243.hp1
HG03516.hp2
 intron_variant MODIFIER c.355+732A>C
c.355+732A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787872
chr7:105787997 T
T
 C
C
 2 a0001c0001t0004g0203
a0001c0001t0018g0058
a0001c0001t0004g0203
a0001c0001t0018g0058
 2 HG02572.hp2
HG02622.hp1
HG02572.hp2
HG02622.hp1
 intron_variant MODIFIER c.355+607A>G
c.355+607A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105787997
chr7:105788040 T
T
 C
C
 6 a0001c0001t0001g0145
a0001c0001t0007g0144
a0001c0001t0010g0228
others(3): Show 
a0001c0001t0001g0145
a0001c0001t0007g0144
a0001c0001t0010g0228
a0001c0001t0014g0038
a0001c0001t0053g0031
a0002c0002t0030g0208
 6 HG01884.hp2
HG02896.hp1
HG02896.hp2
others(3): Show 
HG01884.hp2
HG02896.hp1
HG02896.hp2
HG03540.hp1
HG03831.hp2
NA20129.hp2
 intron_variant MODIFIER c.355+564A>G
c.355+564A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105788040
chr7:105788089 A
A
 AT
AT
 10 a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0010g0228
others(7): Show 
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0010g0228
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0028g0114
a0002c0002t0022g0066
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
 10 HG01074.hp2
HG02055.hp1
HG02818.hp2
others(7): Show 
HG01074.hp2
HG02055.hp1
HG02818.hp2
HG02896.hp1
HG03225.hp1
HG03540.hp1
HG03540.hp2
HG06807.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.355+514dupA
c.355+514dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105788089
chr7:105788188 C
C
 T
T
 1 a0001c0001t0002g0188
a0001c0001t0002g0188
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.355+416G>A
c.355+416G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105788188
chr7:105788401 G
G
 A
A
 12 a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0003g0071
others(9): Show 
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0003g0071
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0008g0075
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0021g0130
a0001c0001t0027g0134
a0001c0001t0044g0110
a0001c0001t0056g0210
 12 HG02280.hp2
HG02451.hp1
HG02559.hp2
others(9): Show 
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02630.hp1
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03471.hp1
NA18522.hp2
NA19240.hp2
 intron_variant MODIFIER c.355+203C>T
c.355+203C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105788401
chr7:105788417 G
G
 A
A
 11 a0001c0001t0002g0245
a0001c0001t0003g0235
a0001c0001t0004g0124
others(8): Show 
a0001c0001t0002g0245
a0001c0001t0003g0235
a0001c0001t0004g0124
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0026g0189
a0001c0001t0037g0065
 11 HG01109.hp1
HG01256.hp2
HG01257.hp1
others(8): Show 
HG01109.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG02280.hp1
HG03239.hp1
HG04199.hp1
 intron_variant MODIFIER c.355+187C>T
c.355+187C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 3/11 chr7 105788417
chr7:105788841 C
C
 T
T
 4 a0001c0001t0004g0135
a0001c0001t0005g0206
a0001c0001t0056g0210
others(1): Show 
a0001c0001t0004g0135
a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
 4 HG01891.hp1
HG02055.hp2
HG03225.hp2
others(1): Show 
HG01891.hp1
HG02055.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.251-133G>A
c.251-133G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105788841
chr7:105789279 T
T
 A
A
 1 a0002c0002t0030g0208
a0002c0002t0030g0208
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-571A>T
c.251-571A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105789279
chr7:105789354 A
A
 G
G
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.251-646T>C
c.251-646T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105789354
chr7:105789442 C
C
 T
T
 1 a0001c0001t0008g0015
a0001c0001t0008g0015
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.251-734G>A
c.251-734G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105789442
chr7:105789588 G
G
 A
A
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.251-880C>T
c.251-880C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105789588
chr7:105789856 A
A
 G
G
 2 a0001c0001t0003g0118
a0001c0001t0014g0123
a0001c0001t0003g0118
a0001c0001t0014g0123
 2 HG01167.hp2
HG01169.hp2
HG01167.hp2
HG01169.hp2
 intron_variant MODIFIER c.251-1148T>C
c.251-1148T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105789856
chr7:105789927 T
T
 C
C
 3 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0054g0087
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0054g0087
 3 HG00642.hp1
HG01081.hp1
NA18995.hp2
HG00642.hp1
HG01081.hp1
NA18995.hp2
 intron_variant MODIFIER c.251-1219A>G
c.251-1219A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105789927
chr7:105790136 C
C
 T
T
 90 a0001c0001t0001g0009
a0001c0001t0001g0059
a0001c0001t0001g0085
others(87): Show 
a0001c0001t0001g0009
a0001c0001t0001g0059
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0139
a0001c0001t0018g0046
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0006t0001g0112
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
 90 HG00280.hp1
HG00558.hp2
HG00642.hp2
others(87): Show 
HG00280.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01433.hp1
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG03041.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-1428G>A
c.251-1428G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790136
chr7:105790415 C
C
 A
A
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.251-1707G>T
c.251-1707G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790415
chr7:105790555 T
T
 C
C
 1 a0002c0002t0030g0208
a0002c0002t0030g0208
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-1847A>G
c.251-1847A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790555
chr7:105790605 A
A
 T
T
 1 a0001c0001t0004g0084
a0001c0001t0004g0084
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.251-1897T>A
c.251-1897T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790605
chr7:105790606 T
T
 TTATC
TTATC
 29 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0074
others(26): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0074
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0186
a0001c0001t0003g0004
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0118
a0001c0001t0003g0235
a0001c0001t0004g0246
a0001c0001t0007g0057
a0001c0001t0008g0249
a0001c0001t0010g0032
a0001c0001t0013g0129
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0015g0019
a0001c0001t0016g0136
a0001c0001t0024g0250
a0001c0004t0010g0154
a0001c0008t0014g0165
a0002c0002t0030g0212
 29 HG01167.hp2
HG01169.hp2
HG01256.hp2
others(26): Show 
HG01167.hp2
HG01169.hp2
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG02056.hp1
HG02071.hp1
HG02132.hp1
HG02132.hp2
HG03471.hp2
HG03490.hp2
HG03669.hp2
HG03942.hp1
NA18906.hp2
NA18945.hp1
NA18948.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18971.hp2
NA18994.hp1
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19066.hp1
NA19074.hp2
NA19088.hp1
NA20300.hp1
 intron_variant MODIFIER c.251-1902_251-1899d
others(6): Show 
c.251-1902_251-1899dupGATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790606
chr7:105790606 T
T
 TTATCTAT
others(1): Show 
TTATCTATC
 5 a0001c0001t0002g0142
a0001c0001t0004g0137
a0001c0001t0006g0024
others(2): Show 
a0001c0001t0002g0142
a0001c0001t0004g0137
a0001c0001t0006g0024
a0001c0001t0011g0012
a0001c0001t0037g0065
 5 HG02280.hp1
HG03579.hp1
HG04199.hp2
others(2): Show 
HG02280.hp1
HG03579.hp1
HG04199.hp2
NA18970.hp1
NA19088.hp2
 intron_variant MODIFIER c.251-1906_251-1899d
others(10): Show 
c.251-1906_251-1899dupGATAGATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790606
chr7:105790606 T
T
 TTATCTAT
others(5): Show 
TTATCTATCTATC
 2 a0001c0001t0006g0022
a0001c0001t0029g0072
a0001c0001t0006g0022
a0001c0001t0029g0072
 2 HG02738.hp1
HG02738.hp2
HG02738.hp1
HG02738.hp2
 intron_variant MODIFIER c.251-1910_251-1899d
others(14): Show 
c.251-1910_251-1899dupGATAGATAGATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790606
chr7:105790606 TTATC
TTATC
 T
T
 52 a0001c0001t0001g0017
a0001c0001t0001g0059
a0001c0001t0001g0088
others(49): Show 
a0001c0001t0001g0017
a0001c0001t0001g0059
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0163
a0001c0001t0002g0177
a0001c0001t0002g0187
a0001c0001t0003g0238
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0008g0073
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0009g0146
a0001c0001t0010g0093
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0016g0069
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0051g0035
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0012t0003g0047
a0003c0003t0005g0079
a0003c0003t0020g0199
a0007c0009t0007g0096
 52 HG00642.hp2
HG00735.hp2
HG00738.hp1
others(49): Show 
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp1
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01934.hp1
HG01978.hp2
HG02055.hp2
HG02071.hp2
HG02129.hp2
HG02155.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02895.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG06807.hp2
NA18948.hp1
NA18950.hp1
NA18970.hp2
NA18989.hp1
NA18994.hp2
NA18995.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp2
NA19085.hp2
NA19087.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.251-1902_251-1899d
others(6): Show 
c.251-1902_251-1899delGATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790606
chr7:105790606 TTATCTAT
others(1): Show 
TTATCTATC
 T
T
 15 a0001c0001t0001g0003
a0001c0001t0001g0108
a0001c0001t0001g0205
others(12): Show 
a0001c0001t0001g0003
a0001c0001t0001g0108
a0001c0001t0001g0205
a0001c0001t0002g0042
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0005g0126
a0001c0001t0009g0097
a0001c0001t0011g0101
a0001c0001t0014g0083
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0139
a0001c0001t0046g0138
a0004c0013t0036g0107
 15 HG00280.hp1
HG00280.hp2
HG01175.hp1
others(12): Show 
HG00280.hp1
HG00280.hp2
HG01175.hp1
HG01256.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG02015.hp1
HG02451.hp2
HG02735.hp2
NA18906.hp1
NA18945.hp2
NA18989.hp2
NA20129.hp1
 intron_variant MODIFIER c.251-1906_251-1899d
others(10): Show 
c.251-1906_251-1899delGATAGATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790606
chr7:105790606 TTATCTAT
others(5): Show 
TTATCTATCTATC
 T
T
 18 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
others(15): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0201
a0001c0001t0003g0070
a0001c0001t0004g0203
a0001c0001t0005g0182
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0010g0051
a0001c0001t0012g0064
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0025g0104
a0001c0001t0045g0190
a0001c0001t0049g0148
a0002c0002t0059g0200
a0006c0010t0031g0204
 18 HG00323.hp1
HG01099.hp1
HG01516.hp1
others(15): Show 
HG00323.hp1
HG01099.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG02300.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02895.hp1
HG03041.hp1
HG03516.hp1
HG03579.hp2
HG03942.hp2
 intron_variant MODIFIER c.251-1910_251-1899d
others(14): Show 
c.251-1910_251-1899delGATAGATAGATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790606
chr7:105790638 CTATCT
CTATCT
 C
C
 3 a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0007t0038g0158
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0007t0038g0158
 3 HG01192.hp2
HG01943.hp2
HG01978.hp1
HG01192.hp2
HG01943.hp2
HG01978.hp1
 intron_variant MODIFIER c.251-1935_251-1931d
others(7): Show 
c.251-1935_251-1931delAGATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790638
chr7:105790642 CT
CT
 C
C
 4 a0001c0001t0004g0128
a0001c0001t0019g0062
a0001c0001t0063g0041
others(1): Show 
a0001c0001t0004g0128
a0001c0001t0019g0062
a0001c0001t0063g0041
a0002c0002t0030g0208
 4 HG00741.hp2
HG01255.hp1
HG02145.hp2
others(1): Show 
HG00741.hp2
HG01255.hp1
HG02145.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-1935delA
c.251-1935delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790642
chr7:105790647 T
T
 TATC
TATC
 9 a0001c0001t0001g0145
a0001c0001t0002g0056
a0001c0001t0004g0135
others(6): Show 
a0001c0001t0001g0145
a0001c0001t0002g0056
a0001c0001t0004g0135
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0022g0224
a0001c0001t0053g0031
a0001c0005t0007g0209
 9 HG01884.hp2
HG01891.hp1
HG02055.hp1
others(6): Show 
HG01884.hp2
HG01891.hp1
HG02055.hp1
HG02896.hp1
NA18943.hp2
NA19066.hp2
NA19079.hp1
NA19086.hp2
NA20300.hp2
 intron_variant MODIFIER c.251-1942_251-1940d
others(5): Show 
c.251-1942_251-1940dupGAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790647
chr7:105790653 T
T
 C
C
 8 a0001c0001t0004g0128
a0001c0001t0016g0176
a0001c0001t0018g0094
others(5): Show 
a0001c0001t0004g0128
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0043g0105
a0001c0001t0063g0041
a0001c0007t0038g0158
a0002c0002t0030g0208
 8 HG00741.hp2
HG01192.hp2
HG01255.hp1
others(5): Show 
HG00741.hp2
HG01192.hp2
HG01255.hp1
HG01943.hp2
HG01978.hp1
HG02083.hp2
HG02145.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-1945A>G
c.251-1945A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790653
chr7:105790654 C
C
 CTACT
CTACT
 9 a0001c0001t0001g0145
a0001c0001t0002g0056
a0001c0001t0004g0135
others(6): Show 
a0001c0001t0001g0145
a0001c0001t0002g0056
a0001c0001t0004g0135
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0022g0224
a0001c0001t0053g0031
a0001c0005t0007g0209
 9 HG01884.hp2
HG01891.hp1
HG02055.hp1
others(6): Show 
HG01884.hp2
HG01891.hp1
HG02055.hp1
HG02896.hp1
NA18943.hp2
NA19066.hp2
NA19079.hp1
NA19086.hp2
NA20300.hp2
 intron_variant MODIFIER c.251-1947_251-1946i
others(6): Show 
c.251-1947_251-1946insAGTA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790654
chr7:105790654 C
C
 CTATCATC
others(8): Show 
CTATCATCTATCTACT
 2 a0001c0001t0003g0050
a0001c0001t0005g0248
a0001c0001t0003g0050
a0001c0001t0005g0248
 2 NA19060.hp1
NA19068.hp1
NA19060.hp1
NA19068.hp1
 intron_variant MODIFIER c.251-1947_251-1946i
others(17): Show 
c.251-1947_251-1946insAGTAGATAGATGATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790654
chr7:105790654 C
C
 T
T
 8 a0001c0001t0004g0128
a0001c0001t0016g0176
a0001c0001t0018g0094
others(5): Show 
a0001c0001t0004g0128
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0043g0105
a0001c0001t0063g0041
a0001c0007t0038g0158
a0002c0002t0030g0208
 8 HG00741.hp2
HG01192.hp2
HG01255.hp1
others(5): Show 
HG00741.hp2
HG01192.hp2
HG01255.hp1
HG01943.hp2
HG01978.hp1
HG02083.hp2
HG02145.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-1946G>A
c.251-1946G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790654
chr7:105790655 A
A
 T
T
 1 a0001c0001t0014g0166
a0001c0001t0014g0166
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.251-1947T>A
c.251-1947T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790655
chr7:105790656 T
T
 A
A
 1 a0001c0001t0014g0166
a0001c0001t0014g0166
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.251-1948A>T
c.251-1948A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790656
chr7:105790674 A
A
 ACTAT
ACTAT
 57 a0001c0001t0001g0005
a0001c0001t0001g0078
a0001c0001t0001g0163
others(54): Show 
a0001c0001t0001g0005
a0001c0001t0001g0078
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0053
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0071
a0001c0001t0003g0100
a0001c0001t0003g0150
a0001c0001t0004g0198
a0001c0001t0005g0206
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0010g0091
a0001c0001t0010g0111
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0017g0195
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0031g0172
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0044g0110
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0012t0003g0047
a0002c0002t0032g0149
a0005c0011t0008g0092
 57 HG00673.hp2
HG00735.hp1
HG00738.hp2
others(54): Show 
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01099.hp2
HG01167.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG02055.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02280.hp2
HG02451.hp1
HG02523.hp1
HG02647.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02965.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03239.hp2
HG03471.hp1
HG03669.hp2
HG03831.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19054.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.251-1970_251-1967d
others(6): Show 
c.251-1970_251-1967dupATAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790674
chr7:105790674 A
A
 ACTATCTA
others(1): Show 
ACTATCTAT
 64 a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0059
others(61): Show 
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0059
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0239
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0249
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0093
a0001c0001t0011g0101
a0001c0001t0011g0157
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0015g0060
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0023g0183
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0049g0148
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0064g0098
a0002c0002t0022g0220
a0003c0003t0020g0199
 64 HG00642.hp2
HG00735.hp2
HG01069.hp2
others(61): Show 
HG00642.hp2
HG00735.hp2
HG01069.hp2
HG01081.hp2
HG01099.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp2
HG02027.hp1
HG02056.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02280.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG03209.hp2
HG03225.hp2
HG03490.hp1
HG03491.hp1
HG03688.hp1
HG03831.hp2
HG03942.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18962.hp2
NA18971.hp1
NA18989.hp2
NA19003.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19066.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-1974_251-1967d
others(10): Show 
c.251-1974_251-1967dupATAGATAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790674
chr7:105790674 A
A
 ACTATCTA
others(5): Show 
ACTATCTATCTAT
 62 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
others(59): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0082
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0021
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0003g0011
a0001c0001t0003g0070
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0004g0039
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0006g0067
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0170
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0014g0083
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0021g0227
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0041g0196
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0052g0133
a0001c0001t0054g0087
a0001c0004t0010g0154
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0033g0221
a0002c0002t0059g0200
a0004c0013t0036g0107
 62 HG00280.hp1
HG00280.hp2
HG00558.hp2
others(59): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG01081.hp1
HG01175.hp2
HG01192.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01358.hp2
HG01496.hp2
HG01934.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02129.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG03041.hp1
HG03139.hp2
HG03225.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03942.hp1
NA18943.hp1
NA18945.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp1
NA18989.hp1
NA18995.hp2
NA19003.hp1
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19067.hp1
NA19067.hp2
NA19085.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.251-1978_251-1967d
others(14): Show 
c.251-1978_251-1967dupATAGATAGATAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790674
chr7:105790674 A
A
 ACTATCTA
others(9): Show 
ACTATCTATCTATCTAT
 22 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
others(19): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0205
a0001c0001t0002g0173
a0001c0001t0002g0187
a0001c0001t0003g0090
a0001c0001t0005g0182
a0001c0001t0006g0024
a0001c0001t0007g0223
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0164
a0001c0001t0014g0237
a0001c0001t0018g0046
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0050g0155
a0001c0008t0014g0165
a0006c0010t0031g0204
 22 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(19): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00673.hp1
HG01346.hp1
HG01516.hp2
HG01517.hp1
HG02027.hp2
HG02135.hp1
HG02165.hp2
HG02451.hp2
HG02602.hp2
HG03516.hp1
HG03579.hp2
HG04199.hp2
NA18948.hp2
NA18970.hp1
NA18970.hp2
NA18994.hp2
NA19000.hp1
NA19074.hp1
NA19085.hp2
 intron_variant MODIFIER c.251-1982_251-1967d
others(18): Show 
c.251-1982_251-1967dupATAGATAGATAGATAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790674
chr7:105790674 A
A
 ACTATCTA
others(13): Show 
ACTATCTATCTATCTATCTAT
 6 a0001c0001t0001g0201
a0001c0001t0006g0022
a0001c0001t0007g0218
others(3): Show 
a0001c0001t0001g0201
a0001c0001t0006g0022
a0001c0001t0007g0218
a0001c0001t0017g0194
a0001c0001t0034g0068
a0007c0009t0007g0096
 6 HG01074.hp1
HG02572.hp1
HG02630.hp2
others(3): Show 
HG01074.hp1
HG02572.hp1
HG02630.hp2
HG02647.hp2
HG02738.hp1
HG03041.hp2
 intron_variant MODIFIER c.251-1986_251-1967d
others(22): Show 
c.251-1986_251-1967dupATAGATAGATAGATAGATAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790674
chr7:105790674 A
A
 AT
AT
 12 a0001c0001t0001g0145
a0001c0001t0003g0050
a0001c0001t0004g0128
others(9): Show 
a0001c0001t0001g0145
a0001c0001t0003g0050
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0009g0103
a0001c0001t0014g0166
a0001c0001t0016g0176
a0001c0001t0019g0062
a0001c0001t0022g0224
a0001c0001t0053g0031
a0001c0005t0007g0209
a0001c0007t0038g0158
 12 HG00741.hp2
HG01192.hp2
HG01255.hp1
others(9): Show 
HG00741.hp2
HG01192.hp2
HG01255.hp1
HG01884.hp2
HG01891.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02896.hp1
NA18943.hp2
NA19068.hp1
NA20300.hp2
 intron_variant MODIFIER c.251-1967_251-1966i
others(3): Show 
c.251-1967_251-1966insA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790674
chr7:105790674 A
A
 ATCTAT
ATCTAT
 5 a0001c0001t0002g0056
a0001c0001t0005g0248
a0001c0001t0009g0055
others(2): Show 
a0001c0001t0002g0056
a0001c0001t0005g0248
a0001c0001t0009g0055
a0001c0001t0018g0094
a0001c0001t0043g0105
 5 HG01978.hp1
HG02083.hp2
NA19060.hp1
others(2): Show 
HG01978.hp1
HG02083.hp2
NA19060.hp1
NA19066.hp2
NA19086.hp2
 intron_variant MODIFIER c.251-1967_251-1966i
others(7): Show 
c.251-1967_251-1966insATAGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790674
chr7:105790674 A
A
 ATCTATCT
others(6): Show 
ATCTATCTATCTAT
 1 a0002c0002t0030g0208
a0002c0002t0030g0208
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-1967_251-1966i
others(15): Show 
c.251-1967_251-1966insATAGATAGATAGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790674
chr7:105790674 ACTAT
ACTAT
 A
A
 4 a0001c0001t0002g0245
a0001c0001t0012g0122
a0001c0001t0026g0189
others(1): Show 
a0001c0001t0002g0245
a0001c0001t0012g0122
a0001c0001t0026g0189
a0001c0001t0045g0190
 4 HG01109.hp1
HG01257.hp1
HG01891.hp2
others(1): Show 
HG01109.hp1
HG01257.hp1
HG01891.hp2
HG04199.hp1
 intron_variant MODIFIER c.251-1970_251-1967d
others(6): Show 
c.251-1970_251-1967delATAG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790674
chr7:105790733 T
T
 C
C
 158 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
others(155): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 158 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(155): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03239.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG04199.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-2025A>G
c.251-2025A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790733
chr7:105790747 C
C
 G
G
 3 a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0015g0019
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0015g0019
 3 HG02738.hp1
HG03942.hp1
HG04199.hp2
HG02738.hp1
HG03942.hp1
HG04199.hp2
 intron_variant MODIFIER c.251-2039G>C
c.251-2039G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790747
chr7:105790806 A
A
 C
C
 245 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(242): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 245 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(242): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-2098T>G
c.251-2098T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790806
chr7:105790867 C
C
 A
A
 35 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(32): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0012g0052
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0043g0105
a0001c0001t0051g0035
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 35 HG00558.hp1
HG00735.hp2
HG00738.hp1
others(32): Show 
HG00558.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp2
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
NA18747.hp1
NA18747.hp2
NA18954.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19068.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.251-2159G>T
c.251-2159G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790867
chr7:105790895 C
C
 A
A
 2 a0001c0001t0008g0249
a0001c0001t0023g0247
a0001c0001t0008g0249
a0001c0001t0023g0247
 2 HG02135.hp1
NA19074.hp2
HG02135.hp1
NA19074.hp2
 intron_variant MODIFIER c.251-2187G>T
c.251-2187G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790895
chr7:105790966 T
T
 C
C
 158 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
others(155): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 158 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(155): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03239.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG04199.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-2258A>G
c.251-2258A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105790966
chr7:105791025 G
G
 T
T
 1 a0001c0001t0004g0198
a0001c0001t0004g0198
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.251-2317C>A
c.251-2317C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105791025
chr7:105791145 G
G
 C
C
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.251-2437C>G
c.251-2437C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105791145
chr7:105791430 A
A
 C
C
 159 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
others(156): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 159 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(156): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03239.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG04199.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-2722T>G
c.251-2722T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105791430
chr7:105791431 C
C
 G
G
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.251-2723G>C
c.251-2723G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105791431
chr7:105791456 G
G
 A
A
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.251-2748C>T
c.251-2748C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105791456
chr7:105791601 A
A
 T
T
 1 a0001c0001t0053g0031
a0001c0001t0053g0031
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.251-2893T>A
c.251-2893T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105791601
chr7:105791644 T
T
 C
C
 4 a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
others(1): Show 
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
a0002c0002t0030g0208
 4 HG02647.hp1
HG02896.hp2
HG02965.hp2
others(1): Show 
HG02647.hp1
HG02896.hp2
HG02965.hp2
NA19030.hp1
 intron_variant MODIFIER c.251-2936A>G
c.251-2936A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105791644
chr7:105791693 T
T
 C
C
 5 a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
others(2): Show 
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
a0002c0002t0030g0208
a0007c0009t0007g0096
 5 HG02630.hp2
HG02647.hp1
HG02896.hp2
others(2): Show 
HG02630.hp2
HG02647.hp1
HG02896.hp2
HG02965.hp2
NA19030.hp1
 intron_variant MODIFIER c.251-2985A>G
c.251-2985A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105791693
chr7:105792090 C
C
 T
T
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.251-3382G>A
c.251-3382G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105792090
chr7:105792169 G
G
 C
C
 2 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0076
a0001c0001t0003g0086
 2 HG00642.hp1
HG01081.hp1
HG00642.hp1
HG01081.hp1
 intron_variant MODIFIER c.251-3461C>G
c.251-3461C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105792169
chr7:105792208 G
G
 A
A
 2 a0001c0001t0041g0196
a0007c0009t0007g0096
a0001c0001t0041g0196
a0007c0009t0007g0096
 2 HG02630.hp2
NA19030.hp2
HG02630.hp2
NA19030.hp2
 intron_variant MODIFIER c.251-3500C>T
c.251-3500C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105792208
chr7:105792262 A
A
 C
C
 6 a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
others(3): Show 
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
a0001c0001t0041g0196
a0002c0002t0030g0208
a0007c0009t0007g0096
 6 HG02630.hp2
HG02647.hp1
HG02896.hp2
others(3): Show 
HG02630.hp2
HG02647.hp1
HG02896.hp2
HG02965.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.251-3554T>G
c.251-3554T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105792262
chr7:105792499 G
G
 A
A
 1 a0001c0001t0050g0155
a0001c0001t0050g0155
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.251-3791C>T
c.251-3791C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105792499
chr7:105792599 C
C
 T
T
 1 a0001c0001t0027g0008
a0001c0001t0027g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.251-3891G>A
c.251-3891G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105792599
chr7:105792652 T
T
 C
C
 1 a0001c0001t0012g0115
a0001c0001t0012g0115
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.251-3944A>G
c.251-3944A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105792652
chr7:105792699 C
C
 T
T
 1 a0001c0001t0004g0135
a0001c0001t0004g0135
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.251-3991G>A
c.251-3991G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105792699
chr7:105792749 G
G
 C
C
 17 a0001c0001t0002g0245
a0001c0001t0003g0235
a0001c0001t0003g0238
others(14): Show 
a0001c0001t0002g0245
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0005g0126
a0001c0001t0006g0067
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0026g0189
a0001c0001t0033g0040
a0001c0001t0037g0065
a0001c0001t0057g0229
 17 HG01069.hp2
HG01081.hp2
HG01109.hp1
others(14): Show 
HG01069.hp2
HG01081.hp2
HG01109.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG02015.hp1
HG02280.hp1
HG03239.hp1
HG03491.hp1
HG04199.hp1
 intron_variant MODIFIER c.251-4041C>G
c.251-4041C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105792749
chr7:105792814 A
A
 G
G
 6 a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0163
others(3): Show 
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0163
a0001c0001t0004g0039
a0001c0001t0008g0015
a0001c0001t0010g0032
 6 HG02129.hp2
NA18957.hp2
NA18962.hp2
others(3): Show 
HG02129.hp2
NA18957.hp2
NA18962.hp2
NA18971.hp1
NA19066.hp1
NA19086.hp1
 intron_variant MODIFIER c.251-4106T>C
c.251-4106T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105792814
chr7:105792815 C
C
 A
A
 4 a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
others(1): Show 
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
a0002c0002t0030g0208
 4 HG02647.hp1
HG02896.hp2
HG02965.hp2
others(1): Show 
HG02647.hp1
HG02896.hp2
HG02965.hp2
NA19030.hp1
 intron_variant MODIFIER c.251-4107G>T
c.251-4107G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105792815
chr7:105792828 G
G
 T
T
 1 a0001c0001t0005g0126
a0001c0001t0005g0126
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.251-4120C>A
c.251-4120C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105792828
chr7:105793063 G
G
 T
T
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.251-4355C>A
c.251-4355C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105793063
chr7:105793105 G
G
 A
A
 1 a0001c0001t0029g0072
a0001c0001t0029g0072
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.251-4397C>T
c.251-4397C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105793105
chr7:105793167 G
G
 C
C
 3 a0001c0001t0002g0179
a0001c0001t0009g0097
a0001c0001t0019g0178
a0001c0001t0002g0179
a0001c0001t0009g0097
a0001c0001t0019g0178
 3 HG01346.hp1
HG01934.hp1
NA18954.hp2
HG01346.hp1
HG01934.hp1
NA18954.hp2
 intron_variant MODIFIER c.251-4459C>G
c.251-4459C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105793167
chr7:105793352 G
G
 T
T
 4 a0001c0001t0004g0135
a0001c0001t0005g0206
a0001c0001t0056g0210
others(1): Show 
a0001c0001t0004g0135
a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
 4 HG01891.hp1
HG02055.hp2
HG03225.hp2
others(1): Show 
HG01891.hp1
HG02055.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.251-4644C>A
c.251-4644C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105793352
chr7:105793458 G
G
 A
A
 3 a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
 3 HG02647.hp1
HG02965.hp2
NA19030.hp1
HG02647.hp1
HG02965.hp2
NA19030.hp1
 intron_variant MODIFIER c.251-4750C>T
c.251-4750C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105793458
chr7:105793486 A
A
 G
G
 1 a0001c0001t0053g0031
a0001c0001t0053g0031
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.251-4778T>C
c.251-4778T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105793486
chr7:105793623 T
T
 A
A
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 NA19056.hp2
NA19056.hp2
 intron_variant MODIFIER c.251-4915A>T
c.251-4915A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105793623
chr7:105793672 T
T
 G
G
 1 a0001c0001t0063g0041
a0001c0001t0063g0041
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.251-4964A>C
c.251-4964A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105793672
chr7:105793679 C
C
 A
A
 10 a0001c0001t0001g0005
a0001c0001t0002g0056
a0001c0001t0003g0004
others(7): Show 
a0001c0001t0001g0005
a0001c0001t0002g0056
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0062g0007
a0001c0012t0003g0047
 10 NA18957.hp1
NA18971.hp2
NA18994.hp1
others(7): Show 
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19079.hp1
NA19086.hp2
 intron_variant MODIFIER c.251-4971G>T
c.251-4971G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105793679
chr7:105793790 G
G
 A
A
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.251-5082C>T
c.251-5082C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105793790
chr7:105794035 CAT
CAT
 C
C
 3 a0001c0001t0001g0108
a0001c0001t0015g0060
a0004c0013t0036g0107
a0001c0001t0001g0108
a0001c0001t0015g0060
a0004c0013t0036g0107
 3 HG00280.hp1
HG01175.hp1
HG01261.hp1
HG00280.hp1
HG01175.hp1
HG01261.hp1
 intron_variant MODIFIER c.251-5329_251-5328d
others(4): Show 
c.251-5329_251-5328delAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105794035
chr7:105794246 T
T
 C
C
 4 a0001c0001t0004g0135
a0001c0001t0005g0206
a0001c0001t0056g0210
others(1): Show 
a0001c0001t0004g0135
a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
 4 HG01891.hp1
HG02055.hp2
HG03225.hp2
others(1): Show 
HG01891.hp1
HG02055.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.251-5538A>G
c.251-5538A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105794246
chr7:105794274 G
G
 A
A
 5 a0001c0001t0006g0197
a0001c0001t0016g0069
a0001c0001t0017g0213
others(2): Show 
a0001c0001t0006g0197
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0021g0130
a0001c0001t0039g0180
 5 HG02559.hp2
HG02630.hp1
HG03098.hp1
others(2): Show 
HG02559.hp2
HG02630.hp1
HG03098.hp1
HG03130.hp1
NA19240.hp2
 intron_variant MODIFIER c.251-5566C>T
c.251-5566C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105794274
chr7:105794306 C
C
 T
T
 39 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(36): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0004g0135
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0012g0052
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0043g0105
a0001c0001t0051g0035
a0001c0001t0056g0210
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0012t0003g0047
 39 HG00558.hp1
HG00735.hp2
HG00738.hp1
others(36): Show 
HG00558.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp2
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02055.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03225.hp2
HG03688.hp1
NA18747.hp1
NA18747.hp2
NA18954.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19068.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp2
NA20300.hp2
 intron_variant MODIFIER c.251-5598G>A
c.251-5598G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105794306
chr7:105794659 G
G
 T
T
 2 a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0002
a0001c0001t0002g0142
 2 HG02129.hp1
NA19088.hp2
HG02129.hp1
NA19088.hp2
 intron_variant MODIFIER c.251-5951C>A
c.251-5951C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105794659
chr7:105794670 C
C
 T
T
 42 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
others(39): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0163
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0010g0032
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 42 HG00642.hp1
HG01081.hp1
HG01099.hp2
others(39): Show 
HG00642.hp1
HG01081.hp1
HG01099.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01261.hp2
HG01358.hp2
HG01496.hp2
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02056.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02165.hp1
HG02523.hp2
HG02735.hp1
HG02738.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18948.hp1
NA18957.hp2
NA18962.hp2
NA18971.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19066.hp1
NA19074.hp2
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.251-5962G>A
c.251-5962G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105794670
chr7:105794698 A
A
 G
G
 1 a0001c0001t0005g0014
a0001c0001t0005g0014
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.251-5990T>C
c.251-5990T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105794698
chr7:105795087 G
G
 C
C
 199 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(196): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 199 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(196): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-6379C>G
c.251-6379C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105795087
chr7:105795103 C
C
 T
T
 36 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(33): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0012g0052
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0017g0194
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0043g0105
a0001c0001t0051g0035
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 36 HG00558.hp1
HG00735.hp2
HG00738.hp1
others(33): Show 
HG00558.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp1
HG01109.hp2
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
NA18747.hp1
NA18747.hp2
NA18954.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19068.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.251-6395G>A
c.251-6395G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105795103
chr7:105795431 T
T
 C
C
 1 a0001c0001t0011g0143
a0001c0001t0011g0143
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.251-6723A>G
c.251-6723A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105795431
chr7:105795501 C
C
 T
T
 11 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0007g0144
others(8): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0007g0144
a0001c0001t0018g0058
a0001c0001t0022g0224
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0055g0252
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0033g0221
 11 HG01884.hp1
HG01891.hp2
HG02055.hp1
others(8): Show 
HG01884.hp1
HG01891.hp2
HG02055.hp1
HG02572.hp2
HG03098.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA20129.hp2
 intron_variant MODIFIER c.251-6793G>A
c.251-6793G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105795501
chr7:105795753 C
C
 T
T
 1 a0001c0001t0025g0240
a0001c0001t0025g0240
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.251-7045G>A
c.251-7045G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105795753
chr7:105795910 T
T
 C
C
 1 a0001c0001t0053g0031
a0001c0001t0053g0031
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.251-7202A>G
c.251-7202A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105795910
chr7:105796056 G
G
 T
T
 42 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
others(39): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0163
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0010g0032
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 42 HG00642.hp1
HG01081.hp1
HG01099.hp2
others(39): Show 
HG00642.hp1
HG01081.hp1
HG01099.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01261.hp2
HG01358.hp2
HG01496.hp2
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02056.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02165.hp1
HG02523.hp2
HG02735.hp1
HG02738.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18948.hp1
NA18957.hp2
NA18962.hp2
NA18971.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19066.hp1
NA19074.hp2
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.251-7348C>A
c.251-7348C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105796056
chr7:105796229 C
C
 T
T
 1 a0001c0001t0002g0167
a0001c0001t0002g0167
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.251-7521G>A
c.251-7521G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105796229
chr7:105796233 C
C
 T
T
 140 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
others(137): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0018g0046
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
 140 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(137): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG03041.hp1
HG03239.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG04199.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-7525G>A
c.251-7525G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105796233
chr7:105796371 A
A
 T
T
 36 a0001c0001t0001g0009
a0001c0001t0001g0085
a0001c0001t0001g0205
others(33): Show 
a0001c0001t0001g0009
a0001c0001t0001g0085
a0001c0001t0001g0205
a0001c0001t0002g0048
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0103
a0001c0001t0009g0146
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0016g0139
a0001c0001t0018g0046
a0001c0001t0024g0077
a0001c0001t0046g0138
a0001c0001t0054g0087
a0001c0001t0058g0018
a0002c0002t0059g0200
a0006c0010t0031g0204
 36 HG00558.hp2
HG00673.hp1
HG01981.hp1
others(33): Show 
HG00558.hp2
HG00673.hp1
HG01981.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02622.hp1
HG02895.hp1
HG03041.hp1
HG03516.hp1
HG03579.hp2
HG03831.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp2
NA18954.hp1
NA18970.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19003.hp2
NA19005.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp2
NA19087.hp2
NA20129.hp1
 intron_variant MODIFIER c.251-7663T>A
c.251-7663T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105796371
chr7:105796375 A
A
 T
T
 93 a0001c0001t0001g0009
a0001c0001t0001g0059
a0001c0001t0001g0085
others(90): Show 
a0001c0001t0001g0009
a0001c0001t0001g0059
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0139
a0001c0001t0018g0046
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0006t0001g0112
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
 93 HG00280.hp1
HG00558.hp2
HG00642.hp2
others(90): Show 
HG00280.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01433.hp1
HG01884.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-7667T>A
c.251-7667T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105796375
chr7:105796379 T
T
 A
A
 29 a0001c0001t0001g0214
a0001c0001t0002g0245
a0001c0001t0003g0235
others(26): Show 
a0001c0001t0001g0214
a0001c0001t0002g0245
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0211
a0001c0001t0005g0126
a0001c0001t0006g0067
a0001c0001t0007g0144
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0022g0224
a0001c0001t0026g0189
a0001c0001t0033g0040
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0055g0252
a0001c0001t0057g0229
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0033g0221
 29 HG01069.hp2
HG01081.hp2
HG01109.hp1
others(26): Show 
HG01069.hp2
HG01081.hp2
HG01109.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02572.hp2
HG02630.hp1
HG03098.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03491.hp1
HG03540.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA20129.hp2
 intron_variant MODIFIER c.251-7671A>T
c.251-7671A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105796379
chr7:105796539 G
G
 C
C
 16 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
others(13): Show 
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0002g0231
a0001c0001t0003g0118
a0001c0001t0004g0128
a0001c0001t0005g0182
a0001c0001t0012g0064
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0019g0062
a0001c0001t0049g0148
a0001c0001t0063g0041
a0003c0003t0020g0199
 16 HG00280.hp2
HG00323.hp1
HG00741.hp2
others(13): Show 
HG00280.hp2
HG00323.hp1
HG00741.hp2
HG01099.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01358.hp1
HG01433.hp2
HG01516.hp2
HG01517.hp1
HG01952.hp1
HG01952.hp2
HG02145.hp2
HG02300.hp2
HG02602.hp1
 intron_variant MODIFIER c.251-7831C>G
c.251-7831C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105796539
chr7:105796649 T
T
 C
C
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.251-7941A>G
c.251-7941A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105796649
chr7:105796866 C
C
 T
T
 2 a0001c0001t0015g0193
a0001c0001t0052g0133
a0001c0001t0015g0193
a0001c0001t0052g0133
 2 HG01243.hp1
HG03516.hp2
HG01243.hp1
HG03516.hp2
 intron_variant MODIFIER c.251-8158G>A
c.251-8158G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105796866
chr7:105796873 C
C
 T
T
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.251-8165G>A
c.251-8165G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105796873
chr7:105797077 G
G
 A
A
 2 a0001c0001t0001g0085
a0001c0001t0011g0101
a0001c0001t0001g0085
a0001c0001t0011g0101
 2 NA18945.hp2
NA18950.hp2
NA18945.hp2
NA18950.hp2
 intron_variant MODIFIER c.251-8369C>T
c.251-8369C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105797077
chr7:105797197 C
C
 T
T
 88 a0001c0001t0001g0009
a0001c0001t0001g0059
a0001c0001t0001g0085
others(85): Show 
a0001c0001t0001g0009
a0001c0001t0001g0059
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0139
a0001c0001t0018g0046
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0058g0018
a0001c0006t0001g0112
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
 88 HG00280.hp1
HG00558.hp2
HG00642.hp2
others(85): Show 
HG00280.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01433.hp1
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG03041.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-8489G>A
c.251-8489G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105797197
chr7:105797270 C
C
 G
G
 12 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0007g0144
others(9): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0007g0144
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0022g0224
a0001c0001t0040g0207
a0001c0001t0045g0190
a0001c0001t0055g0252
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0033g0221
 12 HG01884.hp1
HG01891.hp2
HG02055.hp1
others(9): Show 
HG01884.hp1
HG01891.hp2
HG02055.hp1
HG02572.hp2
HG02630.hp1
HG03098.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA20129.hp2
 intron_variant MODIFIER c.251-8562G>C
c.251-8562G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105797270
chr7:105797536 G
G
 C
C
 6 a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0003g0011
others(3): Show 
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0003g0011
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0024g0077
 6 HG00673.hp1
NA18943.hp1
NA18945.hp1
others(3): Show 
HG00673.hp1
NA18943.hp1
NA18945.hp1
NA18994.hp2
NA18995.hp1
NA19005.hp1
 intron_variant MODIFIER c.251-8828C>G
c.251-8828C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105797536
chr7:105797584 T
T
 A
A
 10 a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0003g0070
others(7): Show 
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0003g0070
a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0016g0139
a0001c0001t0046g0138
a0002c0002t0059g0200
a0006c0010t0031g0204
 10 HG02451.hp2
HG02559.hp1
HG02622.hp1
others(7): Show 
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02895.hp1
HG03041.hp1
HG03516.hp1
HG03579.hp2
NA18906.hp1
NA20129.hp1
 intron_variant MODIFIER c.251-8876A>T
c.251-8876A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105797584
chr7:105797854 C
C
 G
G
 6 a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
others(3): Show 
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
a0001c0001t0053g0031
a0002c0002t0030g0208
a0007c0009t0007g0096
 6 HG01884.hp2
HG02630.hp2
HG02647.hp1
others(3): Show 
HG01884.hp2
HG02630.hp2
HG02647.hp1
HG02896.hp2
HG02965.hp2
NA19030.hp1
 intron_variant MODIFIER c.251-9146G>C
c.251-9146G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105797854
chr7:105797876 T
T
 G
G
 1 a0002c0002t0032g0149
a0002c0002t0032g0149
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.251-9168A>C
c.251-9168A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105797876
chr7:105798016 G
G
 T
T
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.251-9308C>A
c.251-9308C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105798016
chr7:105798132 A
A
 T
T
 1 a0001c0001t0022g0224
a0001c0001t0022g0224
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.251-9424T>A
c.251-9424T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105798132
chr7:105798330 C
C
 T
T
 42 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
others(39): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0163
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0010g0032
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 42 HG00642.hp1
HG01081.hp1
HG01099.hp2
others(39): Show 
HG00642.hp1
HG01081.hp1
HG01099.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01261.hp2
HG01358.hp2
HG01496.hp2
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02056.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02165.hp1
HG02523.hp2
HG02735.hp1
HG02738.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18948.hp1
NA18957.hp2
NA18962.hp2
NA18971.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19066.hp1
NA19074.hp2
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.251-9622G>A
c.251-9622G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105798330
chr7:105798694 G
G
 C
C
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.251-9986C>G
c.251-9986C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105798694
chr7:105798696 A
A
 C
C
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.251-9988T>G
c.251-9988T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105798696
chr7:105798741 A
A
 C
C
 165 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
others(162): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 165 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(162): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG04199.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-10033T>G
c.251-10033T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105798741
chr7:105798890 G
G
 A
A
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.251-10182C>T
c.251-10182C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105798890
chr7:105798900 A
A
 C
C
 1 a0002c0002t0030g0208
a0002c0002t0030g0208
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-10192T>G
c.251-10192T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105798900
chr7:105799114 G
G
 A
A
 1 a0001c0001t0001g0088
a0001c0001t0001g0088
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.251-10406C>T
c.251-10406C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105799114
chr7:105799420 G
G
 A
A
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.251-10712C>T
c.251-10712C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105799420
chr7:105799497 T
T
 TGGGCTCC
others(15): Show 
TGGGCTCCTATTCAGAGGGTCTC
 162 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
others(159): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0017g0194
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 162 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(159): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03688.hp1
HG03831.hp1
HG04199.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-10790_251-1078
others(26): Show 
c.251-10790_251-10789insGAGACCCTCTGAATAGGAGCCC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105799497
chr7:105800002 T
T
 C
C
 12 a0001c0001t0004g0211
a0001c0001t0007g0217
a0001c0001t0008g0216
others(9): Show 
a0001c0001t0004g0211
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0018g0058
a0001c0001t0029g0215
a0001c0001t0040g0207
a0001c0001t0053g0031
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
a0007c0009t0007g0096
 12 HG01884.hp2
HG02572.hp2
HG02630.hp2
others(9): Show 
HG01884.hp2
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02896.hp2
HG02965.hp2
HG03098.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.251-11294A>G
c.251-11294A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105800002
chr7:105800037 C
C
 T
T
 2 a0001c0001t0053g0031
a0007c0009t0007g0096
a0001c0001t0053g0031
a0007c0009t0007g0096
 2 HG01884.hp2
HG02630.hp2
HG01884.hp2
HG02630.hp2
 intron_variant MODIFIER c.251-11329G>A
c.251-11329G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105800037
chr7:105800139 C
C
 T
T
 1 a0001c0001t0011g0143
a0001c0001t0011g0143
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.251-11431G>A
c.251-11431G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105800139
chr7:105800287 C
C
 T
T
 43 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
others(40): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0163
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0010g0032
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 43 HG00642.hp1
HG01081.hp1
HG01099.hp2
others(40): Show 
HG00642.hp1
HG01081.hp1
HG01099.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01261.hp2
HG01358.hp2
HG01496.hp2
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02056.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02735.hp1
HG02738.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18948.hp1
NA18957.hp2
NA18962.hp2
NA18971.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19066.hp1
NA19074.hp2
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.251-11579G>A
c.251-11579G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105800287
chr7:105800863 A
A
 G
G
 41 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
others(38): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0163
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0010g0032
a0001c0001t0012g0028
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0028g0037
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 41 HG00642.hp1
HG01081.hp1
HG01099.hp2
others(38): Show 
HG00642.hp1
HG01081.hp1
HG01099.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01261.hp2
HG01358.hp2
HG01496.hp2
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02056.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02735.hp1
HG02738.hp1
HG03209.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18948.hp1
NA18957.hp2
NA18962.hp2
NA18971.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19066.hp1
NA19074.hp2
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.251-12155T>C
c.251-12155T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105800863
chr7:105800990 C
C
 T
T
 2 a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0012g0244
a0001c0001t0013g0243
 2 HG01243.hp2
HG01515.hp1
HG01243.hp2
HG01515.hp1
 intron_variant MODIFIER c.251-12282G>A
c.251-12282G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105800990
chr7:105801225 CAGTT
CAGTT
 C
C
 4 a0001c0001t0009g0141
a0001c0001t0011g0164
a0001c0001t0011g0170
others(1): Show 
a0001c0001t0009g0141
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0008t0014g0165
 4 NA18948.hp2
NA18950.hp1
NA19074.hp1
others(1): Show 
NA18948.hp2
NA18950.hp1
NA19074.hp1
NA19085.hp2
 intron_variant MODIFIER c.251-12521_251-1251
others(8): Show 
c.251-12521_251-12518delAACT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105801225
chr7:105801337 C
C
 T
T
 17 a0001c0001t0002g0245
a0001c0001t0003g0235
a0001c0001t0003g0238
others(14): Show 
a0001c0001t0002g0245
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0005g0126
a0001c0001t0006g0067
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0026g0189
a0001c0001t0033g0040
a0001c0001t0037g0065
a0001c0001t0057g0229
 17 HG01069.hp2
HG01081.hp2
HG01109.hp1
others(14): Show 
HG01069.hp2
HG01081.hp2
HG01109.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG02015.hp1
HG02280.hp1
HG03239.hp1
HG03491.hp1
HG04199.hp1
 intron_variant MODIFIER c.251-12629G>A
c.251-12629G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105801337
chr7:105801798 G
G
 A
A
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.251-13090C>T
c.251-13090C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105801798
chr7:105801965 C
C
 T
T
 46 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
others(43): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0163
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0010g0032
a0001c0001t0012g0028
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 46 HG00642.hp1
HG01081.hp1
HG01099.hp2
others(43): Show 
HG00642.hp1
HG01081.hp1
HG01099.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01261.hp2
HG01358.hp2
HG01496.hp2
HG01884.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02735.hp1
HG02738.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18948.hp1
NA18957.hp2
NA18962.hp2
NA18971.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19066.hp1
NA19074.hp2
NA19086.hp1
NA19087.hp1
NA20129.hp2
 intron_variant MODIFIER c.251-13257G>A
c.251-13257G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105801965
chr7:105801984 G
G
 A
A
 1 a0001c0001t0056g0210
a0001c0001t0056g0210
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.251-13276C>T
c.251-13276C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105801984
chr7:105802077 A
A
 C
C
 48 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
others(45): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0163
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0010g0032
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0017g0195
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0041g0196
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 48 HG00642.hp1
HG01081.hp1
HG01099.hp2
others(45): Show 
HG00642.hp1
HG01081.hp1
HG01099.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01261.hp2
HG01358.hp2
HG01496.hp2
HG01884.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02735.hp1
HG02738.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp2
HG03490.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18948.hp1
NA18957.hp2
NA18962.hp2
NA18971.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19066.hp1
NA19074.hp2
NA19086.hp1
NA19087.hp1
NA20129.hp2
 intron_variant MODIFIER c.251-13369T>G
c.251-13369T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105802077
chr7:105802284 T
T
 C
C
 6 a0001c0001t0002g0042
a0001c0001t0009g0141
a0001c0001t0010g0095
others(3): Show 
a0001c0001t0002g0042
a0001c0001t0009g0141
a0001c0001t0010g0095
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0008t0014g0165
 6 NA18948.hp2
NA18950.hp1
NA18989.hp2
others(3): Show 
NA18948.hp2
NA18950.hp1
NA18989.hp2
NA19000.hp1
NA19074.hp1
NA19085.hp2
 intron_variant MODIFIER c.251-13576A>G
c.251-13576A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105802284
chr7:105802531 A
A
 G
G
 10 a0001c0001t0004g0211
a0001c0001t0007g0217
a0001c0001t0008g0216
others(7): Show 
a0001c0001t0004g0211
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0018g0058
a0001c0001t0029g0215
a0001c0001t0040g0207
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
 10 HG02572.hp2
HG02647.hp1
HG02896.hp2
others(7): Show 
HG02572.hp2
HG02647.hp1
HG02896.hp2
HG02965.hp2
HG03098.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.251-13823T>C
c.251-13823T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105802531
chr7:105802992 G
G
 C
C
 1 a0001c0001t0002g0002
a0001c0001t0002g0002
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.251-14284C>G
c.251-14284C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105802992
chr7:105803121 A
A
 G
G
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.251-14413T>C
c.251-14413T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105803121
chr7:105803387 C
C
 A
A
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.251-14679G>T
c.251-14679G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105803387
chr7:105803455 G
G
 A
A
 1 a0001c0001t0003g0238
a0001c0001t0003g0238
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.251-14747C>T
c.251-14747C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105803455
chr7:105803570 C
C
 T
T
 4 a0001c0001t0001g0108
a0001c0001t0015g0060
a0001c0001t0015g0109
others(1): Show 
a0001c0001t0001g0108
a0001c0001t0015g0060
a0001c0001t0015g0109
a0004c0013t0036g0107
 4 HG00280.hp1
HG01175.hp1
HG01256.hp1
others(1): Show 
HG00280.hp1
HG01175.hp1
HG01256.hp1
HG01261.hp1
 intron_variant MODIFIER c.251-14862G>A
c.251-14862G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105803570
chr7:105803590 A
A
 G
G
 10 a0001c0001t0004g0211
a0001c0001t0007g0217
a0001c0001t0008g0216
others(7): Show 
a0001c0001t0004g0211
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0018g0058
a0001c0001t0029g0215
a0001c0001t0040g0207
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
 10 HG02572.hp2
HG02647.hp1
HG02896.hp2
others(7): Show 
HG02572.hp2
HG02647.hp1
HG02896.hp2
HG02965.hp2
HG03098.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.251-14882T>C
c.251-14882T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105803590
chr7:105803743 T
T
 C
C
 10 a0001c0001t0004g0211
a0001c0001t0007g0217
a0001c0001t0008g0216
others(7): Show 
a0001c0001t0004g0211
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0018g0058
a0001c0001t0029g0215
a0001c0001t0040g0207
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
 10 HG02572.hp2
HG02647.hp1
HG02896.hp2
others(7): Show 
HG02572.hp2
HG02647.hp1
HG02896.hp2
HG02965.hp2
HG03098.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.251-15035A>G
c.251-15035A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105803743
chr7:105803950 T
T
 A
A
 2 a0001c0001t0001g0174
a0001c0001t0010g0091
a0001c0001t0001g0174
a0001c0001t0010g0091
 2 HG00673.hp2
HG02083.hp1
HG00673.hp2
HG02083.hp1
 intron_variant MODIFIER c.251-15242A>T
c.251-15242A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105803950
chr7:105803950 T
T
 C
C
 1 a0001c0001t0053g0031
a0001c0001t0053g0031
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.251-15242A>G
c.251-15242A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105803950
chr7:105804010 A
A
 G
G
 5 a0001c0001t0006g0197
a0001c0001t0016g0069
a0001c0001t0017g0213
others(2): Show 
a0001c0001t0006g0197
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0021g0130
a0001c0001t0039g0180
 5 HG02559.hp2
HG02630.hp1
HG03098.hp1
others(2): Show 
HG02559.hp2
HG02630.hp1
HG03098.hp1
HG03130.hp1
NA19240.hp2
 intron_variant MODIFIER c.251-15302T>C
c.251-15302T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105804010
chr7:105804286 G
G
 A
A
 1 a0003c0003t0020g0199
a0003c0003t0020g0199
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.251-15578C>T
c.251-15578C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105804286
chr7:105804453 A
A
 C
C
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.251-15745T>G
c.251-15745T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105804453
chr7:105804928 G
G
 A
A
 4 a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
others(1): Show 
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
a0002c0002t0030g0208
 4 HG02647.hp1
HG02896.hp2
HG02965.hp2
others(1): Show 
HG02647.hp1
HG02896.hp2
HG02965.hp2
NA19030.hp1
 intron_variant MODIFIER c.251-16220C>T
c.251-16220C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105804928
chr7:105805095 C
C
 T
T
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.251-16387G>A
c.251-16387G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105805095
chr7:105805100 C
C
 T
T
 1 a0002c0002t0030g0208
a0002c0002t0030g0208
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-16392G>A
c.251-16392G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105805100
chr7:105805262 C
C
 T
T
 4 a0001c0001t0001g0214
a0001c0001t0007g0144
a0001c0001t0022g0224
others(1): Show 
a0001c0001t0001g0214
a0001c0001t0007g0144
a0001c0001t0022g0224
a0001c0001t0055g0252
 4 HG01884.hp1
HG02055.hp1
HG06807.hp1
others(1): Show 
HG01884.hp1
HG02055.hp1
HG06807.hp1
NA20129.hp2
 intron_variant MODIFIER c.251-16554G>A
c.251-16554G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105805262
chr7:105805310 G
G
 A
A
 36 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(33): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0021
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0012g0052
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0043g0105
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 36 HG00558.hp1
HG00735.hp2
HG00738.hp1
others(33): Show 
HG00558.hp1
HG00735.hp2
HG00738.hp1
HG01109.hp2
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
NA18747.hp1
NA18747.hp2
NA18954.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19068.hp1
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp2
 intron_variant MODIFIER c.251-16602C>T
c.251-16602C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105805310
chr7:105805326 C
C
 T
T
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.251-16618G>A
c.251-16618G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105805326
chr7:105805390 G
G
 A
A
 2 a0002c0002t0022g0066
a0002c0002t0033g0221
a0002c0002t0022g0066
a0002c0002t0033g0221
 2 HG03225.hp1
HG03540.hp2
HG03225.hp1
HG03540.hp2
 intron_variant MODIFIER c.251-16682C>T
c.251-16682C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105805390
chr7:105805399 C
C
 T
T
 14 a0001c0001t0001g0005
a0001c0001t0002g0053
a0001c0001t0002g0056
others(11): Show 
a0001c0001t0001g0005
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0005g0027
a0001c0001t0008g0045
a0001c0001t0009g0055
a0001c0001t0018g0131
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0012t0003g0047
 14 HG01934.hp2
NA18747.hp1
NA18957.hp1
others(11): Show 
HG01934.hp2
NA18747.hp1
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp2
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19079.hp1
NA19086.hp2
 intron_variant MODIFIER c.251-16691G>A
c.251-16691G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105805399
chr7:105805500 T
T
 C
C
 1 a0001c0001t0003g0238
a0001c0001t0003g0238
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.251-16792A>G
c.251-16792A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105805500
chr7:105805543 C
C
 T
T
 9 a0001c0001t0004g0135
a0001c0001t0005g0206
a0001c0001t0006g0197
others(6): Show 
a0001c0001t0004g0135
a0001c0001t0005g0206
a0001c0001t0006g0197
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0021g0130
a0001c0001t0039g0180
a0001c0001t0056g0210
a0001c0005t0007g0209
 9 HG01891.hp1
HG02055.hp2
HG02559.hp2
others(6): Show 
HG01891.hp1
HG02055.hp2
HG02559.hp2
HG02630.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.251-16835G>A
c.251-16835G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105805543
chr7:105805553 T
T
 C
C
 11 a0001c0001t0004g0211
a0001c0001t0007g0217
a0001c0001t0008g0216
others(8): Show 
a0001c0001t0004g0211
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0017g0194
a0001c0001t0018g0058
a0001c0001t0029g0215
a0001c0001t0040g0207
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
 11 HG01074.hp1
HG02572.hp2
HG02647.hp1
others(8): Show 
HG01074.hp1
HG02572.hp2
HG02647.hp1
HG02896.hp2
HG02965.hp2
HG03098.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.251-16845A>G
c.251-16845A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105805553
chr7:105805699 C
C
 T
T
 2 a0001c0001t0002g0167
a0001c0001t0050g0155
a0001c0001t0002g0167
a0001c0001t0050g0155
 2 HG02602.hp2
NA19088.hp1
HG02602.hp2
NA19088.hp1
 intron_variant MODIFIER c.251-16991G>A
c.251-16991G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105805699
chr7:105805740 G
G
 A
A
 1 a0004c0013t0036g0107
a0004c0013t0036g0107
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.251-17032C>T
c.251-17032C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105805740
chr7:105806220 T
T
 A
A
 1 a0001c0001t0002g0053
a0001c0001t0002g0053
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.251-17512A>T
c.251-17512A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105806220
chr7:105806919 AAGGGTGA
others(3): Show 
AAGGGTGACTT
 A
A
 88 a0001c0001t0001g0009
a0001c0001t0001g0059
a0001c0001t0001g0085
others(85): Show 
a0001c0001t0001g0009
a0001c0001t0001g0059
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0139
a0001c0001t0018g0046
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0006t0001g0112
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
 88 HG00280.hp1
HG00558.hp2
HG00642.hp2
others(85): Show 
HG00280.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01433.hp1
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG03041.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-18221_251-1821
others(14): Show 
c.251-18221_251-18212delAAGTCACCCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105806919
chr7:105806964 A
A
 G
G
 2 a0001c0001t0001g0174
a0001c0001t0010g0091
a0001c0001t0001g0174
a0001c0001t0010g0091
 2 HG00673.hp2
HG02083.hp1
HG00673.hp2
HG02083.hp1
 intron_variant MODIFIER c.251-18256T>C
c.251-18256T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105806964
chr7:105807255 C
C
 T
T
 4 a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
others(1): Show 
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
a0002c0002t0030g0208
 4 HG02647.hp1
HG02896.hp2
HG02965.hp2
others(1): Show 
HG02647.hp1
HG02896.hp2
HG02965.hp2
NA19030.hp1
 intron_variant MODIFIER c.251-18547G>A
c.251-18547G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105807255
chr7:105807350 T
T
 C
C
 1 a0001c0001t0017g0194
a0001c0001t0017g0194
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.251-18642A>G
c.251-18642A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105807350
chr7:105807689 C
C
 T
T
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.251-18981G>A
c.251-18981G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105807689
chr7:105807764 C
C
 T
T
 86 a0001c0001t0001g0009
a0001c0001t0001g0059
a0001c0001t0001g0085
others(83): Show 
a0001c0001t0001g0009
a0001c0001t0001g0059
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0173
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0003g0011
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0139
a0001c0001t0018g0046
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0058g0018
a0001c0006t0001g0112
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
 86 HG00280.hp1
HG00558.hp2
HG00642.hp2
others(83): Show 
HG00280.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01074.hp2
HG01175.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01433.hp1
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG03041.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp1
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18962.hp1
NA18970.hp1
NA18970.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19060.hp1
NA19060.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-19056G>A
c.251-19056G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105807764
chr7:105807791 T
T
 C
C
 10 a0001c0001t0004g0211
a0001c0001t0007g0217
a0001c0001t0008g0216
others(7): Show 
a0001c0001t0004g0211
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0018g0058
a0001c0001t0029g0215
a0001c0001t0040g0207
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
 10 HG02572.hp2
HG02647.hp1
HG02896.hp2
others(7): Show 
HG02572.hp2
HG02647.hp1
HG02896.hp2
HG02965.hp2
HG03098.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.251-19083A>G
c.251-19083A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105807791
chr7:105807850 C
C
 T
T
 1 a0001c0001t0003g0029
a0001c0001t0003g0029
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.251-19142G>A
c.251-19142G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105807850
chr7:105808291 C
C
 T
T
 1 a0001c0001t0006g0116
a0001c0001t0006g0116
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.251-19583G>A
c.251-19583G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105808291
chr7:105808446 T
T
 C
C
 1 a0001c0001t0012g0232
a0001c0001t0012g0232
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.251-19738A>G
c.251-19738A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105808446
chr7:105808533 G
G
 A
A
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.251-19825C>T
c.251-19825C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105808533
chr7:105808637 A
A
 C
C
 5 a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
others(2): Show 
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
a0001c0001t0053g0031
a0002c0002t0030g0208
 5 HG01884.hp2
HG02647.hp1
HG02896.hp2
others(2): Show 
HG01884.hp2
HG02647.hp1
HG02896.hp2
HG02965.hp2
NA19030.hp1
 intron_variant MODIFIER c.251-19929T>G
c.251-19929T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105808637
chr7:105808899 A
A
 G
G
 217 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(214): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 217 HG00280.hp1
HG00558.hp1
HG00558.hp2
others(214): Show 
HG00280.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-20191T>C
c.251-20191T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105808899
chr7:105809013 G
G
 C
C
 2 a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0004g0246
a0001c0001t0005g0025
 2 NA19003.hp1
NA19067.hp1
NA19003.hp1
NA19067.hp1
 intron_variant MODIFIER c.251-20305C>G
c.251-20305C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105809013
chr7:105809166 C
C
 T
T
 1 a0001c0007t0038g0158
a0001c0007t0038g0158
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.251-20458G>A
c.251-20458G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105809166
chr7:105809167 G
G
 A
A
 1 a0001c0001t0012g0232
a0001c0001t0012g0232
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.251-20459C>T
c.251-20459C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105809167
chr7:105809199 A
A
 C
C
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.251-20491T>G
c.251-20491T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105809199
chr7:105809615 A
A
 G
G
 1 a0001c0001t0001g0163
a0001c0001t0001g0163
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.251-20907T>C
c.251-20907T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105809615
chr7:105809773 CT
CT
 C
C
 83 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(80): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0171
a0001c0001t0004g0128
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0006g0034
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0216
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0143
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0083
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0016g0061
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0227
a0001c0001t0025g0104
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0008t0014g0165
a0001c0012t0003g0047
a0005c0011t0008g0092
 83 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(80): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01099.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp2
HG02015.hp2
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02622.hp2
HG02647.hp1
HG02723.hp1
HG02896.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03540.hp1
HG03688.hp1
HG03942.hp2
NA18747.hp1
NA18747.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19054.hp2
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.251-21066delA
c.251-21066delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105809773
chr7:105809784 T
T
 C
C
 1 a0001c0001t0039g0180
a0001c0001t0039g0180
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.251-21076A>G
c.251-21076A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105809784
chr7:105809825 T
T
 C
C
 3 a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0060g0192
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0060g0192
 3 HG01074.hp1
HG02145.hp1
HG03209.hp1
HG01074.hp1
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.251-21117A>G
c.251-21117A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105809825
chr7:105809872 G
G
 C
C
 1 a0001c0001t0009g0013
a0001c0001t0009g0013
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.251-21164C>G
c.251-21164C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105809872
chr7:105809977 G
G
 A
A
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.251-21269C>T
c.251-21269C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105809977
chr7:105810011 A
A
 G
G
 1 a0001c0001t0006g0034
a0001c0001t0006g0034
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.251-21303T>C
c.251-21303T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105810011
chr7:105810520 T
T
 G
G
 62 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
others(59): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0102
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0135
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0022
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0013g0129
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0028g0037
a0001c0001t0049g0148
a0001c0001t0062g0007
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0032g0149
 62 HG00558.hp1
HG01099.hp1
HG01109.hp1
others(59): Show 
HG00558.hp1
HG01099.hp1
HG01109.hp1
HG01192.hp2
HG01496.hp2
HG01934.hp2
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02129.hp1
HG02135.hp1
HG02630.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp2
HG03130.hp1
HG03239.hp2
HG03490.hp2
HG03491.hp2
HG03669.hp2
HG03688.hp2
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp2
NA18948.hp1
NA18957.hp1
NA18957.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.251-21812A>C
c.251-21812A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105810520
chr7:105810607 G
G
 C
C
 93 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(90): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0127
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0001c0012t0003g0047
a0003c0003t0005g0079
 93 HG00280.hp2
HG00558.hp1
HG00558.hp2
others(90): Show 
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp2
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02056.hp1
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02523.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG03239.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.251-21899C>G
c.251-21899C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105810607
chr7:105810632 A
A
 C
C
 1 a0001c0001t0013g0251
a0001c0001t0013g0251
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.251-21924T>G
c.251-21924T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105810632
chr7:105810658 G
G
 A
A
 1 a0001c0001t0006g0117
a0001c0001t0006g0117
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.251-21950C>T
c.251-21950C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105810658
chr7:105810740 G
G
 A
A
 1 a0002c0002t0030g0208
a0002c0002t0030g0208
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-22032C>T
c.251-22032C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105810740
chr7:105810929 G
G
 C
C
 1 a0001c0001t0002g0048
a0001c0001t0002g0048
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.251-22221C>G
c.251-22221C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105810929
chr7:105811193 C
C
 T
T
 1 a0001c0001t0001g0082
a0001c0001t0001g0082
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.251-22485G>A
c.251-22485G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105811193
chr7:105811194 G
G
 A
A
 1 a0001c0001t0018g0058
a0001c0001t0018g0058
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.251-22486C>T
c.251-22486C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105811194
chr7:105811215 C
C
 T
T
 41 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(38): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 41 HG00558.hp1
HG00741.hp2
HG01346.hp1
others(38): Show 
HG00558.hp1
HG00741.hp2
HG01346.hp1
HG01433.hp2
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18954.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
NA19088.hp1
 intron_variant MODIFIER c.251-22507G>A
c.251-22507G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105811215
chr7:105811277 G
G
 T
T
 3 a0001c0001t0001g0085
a0001c0001t0006g0034
a0001c0001t0024g0077
a0001c0001t0001g0085
a0001c0001t0006g0034
a0001c0001t0024g0077
 3 HG00673.hp1
NA18950.hp2
NA19060.hp2
HG00673.hp1
NA18950.hp2
NA19060.hp2
 intron_variant MODIFIER c.251-22569C>A
c.251-22569C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105811277
chr7:105811328 G
G
 A
A
 1 a0002c0002t0030g0208
a0002c0002t0030g0208
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-22620C>T
c.251-22620C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105811328
chr7:105811358 C
C
 G
G
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.251-22650G>C
c.251-22650G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105811358
chr7:105811462 C
C
 T
T
 57 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(54): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0197
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0033g0040
a0001c0001t0041g0196
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 57 HG00280.hp2
HG00642.hp1
HG00673.hp1
others(54): Show 
HG00280.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02735.hp1
HG02738.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19086.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.251-22754G>A
c.251-22754G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105811462
chr7:105811470 C
C
 T
T
 5 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(2): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0053g0031
a0001c0001t0060g0192
 5 HG01074.hp1
HG01243.hp1
HG01884.hp2
others(2): Show 
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.251-22762G>A
c.251-22762G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105811470
chr7:105811471 G
G
 A
A
 1 a0001c0001t0055g0252
a0001c0001t0055g0252
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.251-22763C>T
c.251-22763C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105811471
chr7:105811492 CA
CA
 C
C
 13 a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
others(10): Show 
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0173
a0001c0001t0003g0147
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0049g0148
 13 HG00558.hp2
HG01099.hp1
HG02027.hp1
others(10): Show 
HG00558.hp2
HG01099.hp1
HG02027.hp1
HG02129.hp1
HG02135.hp1
HG02165.hp2
NA19009.hp2
NA19056.hp1
NA19068.hp2
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
 intron_variant MODIFIER c.251-22785delT
c.251-22785delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105811492
chr7:105811589 C
C
 A
A
 1 a0001c0001t0001g0214
a0001c0001t0001g0214
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.251-22881G>T
c.251-22881G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105811589
chr7:105811838 C
C
 T
T
 41 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(38): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 41 HG00558.hp1
HG00741.hp2
HG01346.hp1
others(38): Show 
HG00558.hp1
HG00741.hp2
HG01346.hp1
HG01433.hp2
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18954.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
NA19088.hp1
 intron_variant MODIFIER c.251-23130G>A
c.251-23130G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105811838
chr7:105812065 A
A
 G
G
 1 a0001c0001t0011g0152
a0001c0001t0011g0152
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.251-23357T>C
c.251-23357T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105812065
chr7:105812078 C
C
 G
G
 8 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
others(5): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0024g0250
 8 HG02056.hp1
NA18989.hp1
NA19003.hp1
others(5): Show 
HG02056.hp1
NA18989.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.251-23370G>C
c.251-23370G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105812078
chr7:105812097 G
G
 GC
GC
 27 a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
others(24): Show 
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0014g0123
a0001c0001t0019g0063
a0001c0001t0029g0215
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0008t0014g0165
a0005c0011t0008g0092
 27 HG00673.hp2
HG01167.hp1
HG01167.hp2
others(24): Show 
HG00673.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02647.hp1
HG02965.hp2
HG03669.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19030.hp1
NA19085.hp2
 intron_variant MODIFIER c.251-23390dupG
c.251-23390dupG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105812097
chr7:105812281 T
T
 C
C
 8 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
others(5): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 8 HG02056.hp1
HG02135.hp1
NA18989.hp1
others(5): Show 
HG02056.hp1
HG02135.hp1
NA18989.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.251-23573A>G
c.251-23573A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105812281
chr7:105812304 G
G
 A
A
 41 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(38): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 41 HG00558.hp1
HG00741.hp2
HG01346.hp1
others(38): Show 
HG00558.hp1
HG00741.hp2
HG01346.hp1
HG01433.hp2
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18954.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
NA19088.hp1
 intron_variant MODIFIER c.251-23596C>T
c.251-23596C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105812304
chr7:105812639 T
T
 G
G
 45 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(42): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0167
a0001c0001t0002g0179
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0012t0003g0047
 45 HG00558.hp1
HG00741.hp2
HG01346.hp1
others(42): Show 
HG00558.hp1
HG00741.hp2
HG01346.hp1
HG01433.hp2
HG01516.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03225.hp2
HG03688.hp1
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18954.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
NA19088.hp1
 intron_variant MODIFIER c.251-23931A>C
c.251-23931A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105812639
chr7:105812710 C
C
 G
G
 12 a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
others(9): Show 
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0173
a0001c0001t0003g0147
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0023g0183
a0001c0001t0049g0148
 12 HG00558.hp2
HG01099.hp1
HG02027.hp1
others(9): Show 
HG00558.hp2
HG01099.hp1
HG02027.hp1
HG02129.hp1
HG02165.hp2
NA19009.hp2
NA19056.hp1
NA19068.hp2
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
 intron_variant MODIFIER c.251-24002G>C
c.251-24002G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105812710
chr7:105812959 G
G
 A
A
 4 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(1): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0060g0192
 4 HG01074.hp1
HG01243.hp1
HG02145.hp1
others(1): Show 
HG01074.hp1
HG01243.hp1
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.251-24251C>T
c.251-24251C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105812959
chr7:105813086 C
C
 A
A
 1 a0001c0001t0021g0184
a0001c0001t0021g0184
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.251-24378G>T
c.251-24378G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105813086
chr7:105813096 A
A
 G
G
 126 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(123): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0033g0221
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
 126 HG00280.hp1
HG00280.hp2
HG00558.hp2
others(123): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.251-24388T>C
c.251-24388T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105813096
chr7:105813299 G
G
 A
A
 86 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(83): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0033g0221
a0003c0003t0005g0079
a0004c0013t0036g0107
 86 HG00280.hp1
HG00280.hp2
HG00642.hp1
others(83): Show 
HG00280.hp1
HG00280.hp2
HG00642.hp1
HG00673.hp1
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA19003.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19074.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.251-24591C>T
c.251-24591C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105813299
chr7:105813335 A
A
 AT
AT
 128 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(125): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0053
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0206
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
 128 HG00280.hp1
HG00280.hp2
HG00642.hp1
others(125): Show 
HG00280.hp1
HG00280.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02055.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03491.hp1
HG03516.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-24628dupA
c.251-24628dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105813335
chr7:105813335 A
A
 ATT
ATT
 20 a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
others(17): Show 
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0173
a0001c0001t0003g0147
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0015g0193
a0001c0001t0017g0195
a0001c0001t0018g0058
a0001c0001t0023g0183
a0001c0001t0042g0161
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0053g0031
a0001c0001t0060g0192
a0002c0002t0022g0066
a0002c0002t0033g0221
 20 HG00558.hp2
HG01099.hp1
HG01243.hp1
others(17): Show 
HG00558.hp2
HG01099.hp1
HG01243.hp1
HG01884.hp2
HG02027.hp1
HG02129.hp1
HG02145.hp1
HG02165.hp2
HG02572.hp2
HG02602.hp2
HG03209.hp1
HG03225.hp1
HG03540.hp2
NA19009.hp2
NA19010.hp1
NA19068.hp2
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
 intron_variant MODIFIER c.251-24629_251-2462
others(6): Show 
c.251-24629_251-24628dupAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105813335
chr7:105813441 G
G
 A
A
 1 a0001c0001t0053g0031
a0001c0001t0053g0031
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.251-24733C>T
c.251-24733C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105813441
chr7:105813588 C
C
 T
T
 1 a0001c0001t0014g0038
a0001c0001t0014g0038
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.251-24880G>A
c.251-24880G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105813588
chr7:105813697 T
T
 C
C
 1 a0001c0001t0018g0058
a0001c0001t0018g0058
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.251-24989A>G
c.251-24989A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105813697
chr7:105813798 C
C
 T
T
 1 a0001c0001t0026g0189
a0001c0001t0026g0189
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.251-25090G>A
c.251-25090G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105813798
chr7:105813976 A
A
 G
G
 5 a0001c0001t0001g0088
a0001c0001t0002g0160
a0001c0001t0003g0171
others(2): Show 
a0001c0001t0001g0088
a0001c0001t0002g0160
a0001c0001t0003g0171
a0001c0001t0010g0093
a0005c0011t0008g0092
 5 HG01978.hp2
HG02148.hp1
HG02300.hp1
others(2): Show 
HG01978.hp2
HG02148.hp1
HG02300.hp1
NA18962.hp1
NA18970.hp2
 intron_variant MODIFIER c.251-25268T>C
c.251-25268T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105813976
chr7:105814004 C
C
 G
G
 2 a0001c0001t0001g0174
a0001c0001t0010g0091
a0001c0001t0001g0174
a0001c0001t0010g0091
 2 HG00673.hp2
HG02083.hp1
HG00673.hp2
HG02083.hp1
 intron_variant MODIFIER c.251-25296G>C
c.251-25296G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105814004
chr7:105814006 C
C
 G
G
 1 a0001c0001t0017g0213
a0001c0001t0017g0213
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.251-25298G>C
c.251-25298G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105814006
chr7:105814168 C
C
 T
T
 1 a0001c0001t0005g0014
a0001c0001t0005g0014
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.251-25460G>A
c.251-25460G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105814168
chr7:105814294 A
A
 G
G
 26 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(23): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0016g0069
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 26 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(23): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-25586T>C
c.251-25586T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105814294
chr7:105814410 A
A
 T
T
 3 a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
 3 HG02647.hp1
HG02965.hp2
NA19030.hp1
HG02647.hp1
HG02965.hp2
NA19030.hp1
 intron_variant MODIFIER c.251-25702T>A
c.251-25702T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105814410
chr7:105814414 T
T
 C
C
 4 a0001c0001t0001g0108
a0001c0001t0015g0060
a0001c0001t0015g0109
others(1): Show 
a0001c0001t0001g0108
a0001c0001t0015g0060
a0001c0001t0015g0109
a0004c0013t0036g0107
 4 HG00280.hp1
HG01175.hp1
HG01256.hp1
others(1): Show 
HG00280.hp1
HG01175.hp1
HG01256.hp1
HG01261.hp1
 intron_variant MODIFIER c.251-25706A>G
c.251-25706A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105814414
chr7:105814439 T
T
 A
A
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.251-25731A>T
c.251-25731A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105814439
chr7:105814493 C
C
 T
T
 2 a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0080
a0001c0001t0001g0081
 2 HG01516.hp2
HG01517.hp1
HG01516.hp2
HG01517.hp1
 intron_variant MODIFIER c.251-25785G>A
c.251-25785G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105814493
chr7:105814576 TTTTTG
TTTTTG
 T
T
 4 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(1): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0060g0192
 4 HG01074.hp1
HG01243.hp1
HG02145.hp1
others(1): Show 
HG01074.hp1
HG01243.hp1
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.251-25873_251-2586
others(9): Show 
c.251-25873_251-25869delCAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105814576
chr7:105814690 G
G
 C
C
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.251-25982C>G
c.251-25982C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105814690
chr7:105814982 T
T
 C
C
 5 a0001c0001t0007g0223
a0001c0001t0022g0224
a0001c0001t0039g0180
others(2): Show 
a0001c0001t0007g0223
a0001c0001t0022g0224
a0001c0001t0039g0180
a0002c0002t0022g0066
a0002c0002t0033g0221
 5 HG02055.hp1
HG03098.hp1
HG03225.hp1
others(2): Show 
HG02055.hp1
HG03098.hp1
HG03225.hp1
HG03516.hp1
HG03540.hp2
 intron_variant MODIFIER c.251-26274A>G
c.251-26274A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105814982
chr7:105815002 G
G
 T
T
 12 a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
others(9): Show 
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0173
a0001c0001t0003g0147
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0023g0183
a0001c0001t0049g0148
 12 HG00558.hp2
HG01099.hp1
HG02027.hp1
others(9): Show 
HG00558.hp2
HG01099.hp1
HG02027.hp1
HG02129.hp1
HG02165.hp2
NA19009.hp2
NA19056.hp1
NA19068.hp2
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
 intron_variant MODIFIER c.251-26294C>A
c.251-26294C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105815002
chr7:105815345 T
T
 C
C
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.251-26637A>G
c.251-26637A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105815345
chr7:105815498 C
C
 T
T
 1 a0001c0001t0001g0088
a0001c0001t0001g0088
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.251-26790G>A
c.251-26790G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105815498
chr7:105815643 T
T
 G
G
 3 a0001c0001t0004g0211
a0001c0001t0040g0207
a0002c0002t0030g0212
a0001c0001t0004g0211
a0001c0001t0040g0207
a0002c0002t0030g0212
 3 HG03098.hp2
HG03471.hp2
NA18522.hp1
HG03098.hp2
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.251-26935A>C
c.251-26935A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105815643
chr7:105815683 T
T
 C
C
 6 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(3): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0040g0207
a0002c0002t0030g0212
 6 HG02723.hp1
HG03098.hp2
HG03471.hp2
others(3): Show 
HG02723.hp1
HG03098.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
 intron_variant MODIFIER c.251-26975A>G
c.251-26975A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105815683
chr7:105815769 G
G
 A
A
 1 a0001c0001t0005g0248
a0001c0001t0005g0248
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.251-27061C>T
c.251-27061C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105815769
chr7:105815892 C
C
 T
T
 1 a0001c0001t0006g0116
a0001c0001t0006g0116
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.251-27184G>A
c.251-27184G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105815892
chr7:105815935 C
C
 T
T
 1 a0001c0001t0002g0160
a0001c0001t0002g0160
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.251-27227G>A
c.251-27227G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105815935
chr7:105815985 A
A
 G
G
 4 a0001c0001t0006g0197
a0001c0001t0018g0058
a0001c0001t0028g0114
others(1): Show 
a0001c0001t0006g0197
a0001c0001t0018g0058
a0001c0001t0028g0114
a0001c0001t0041g0196
 4 HG02559.hp2
HG02572.hp2
NA19030.hp2
others(1): Show 
HG02559.hp2
HG02572.hp2
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.251-27277T>C
c.251-27277T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105815985
chr7:105815988 C
C
 T
T
 1 a0003c0003t0020g0199
a0003c0003t0020g0199
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.251-27280G>A
c.251-27280G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105815988
chr7:105815993 C
C
 T
T
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.251-27285G>A
c.251-27285G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105815993
chr7:105816096 T
T
 C
C
 1 a0001c0001t0004g0246
a0001c0001t0004g0246
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.251-27388A>G
c.251-27388A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105816096
chr7:105816139 C
C
 A
A
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.251-27431G>T
c.251-27431G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105816139
chr7:105816235 C
C
 T
T
 2 a0001c0001t0001g0145
a0001c0001t0013g0156
a0001c0001t0001g0145
a0001c0001t0013g0156
 2 HG02895.hp2
HG02896.hp1
HG02895.hp2
HG02896.hp1
 intron_variant MODIFIER c.251-27527G>A
c.251-27527G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105816235
chr7:105816409 G
G
 A
A
 1 a0001c0001t0029g0072
a0001c0001t0029g0072
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.251-27701C>T
c.251-27701C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105816409
chr7:105816423 G
G
 A
A
 201 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(198): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 201 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(198): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-27715C>T
c.251-27715C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105816423
chr7:105816511 C
C
 T
T
 10 a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0003g0070
others(7): Show 
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0003g0070
a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0016g0139
a0001c0001t0046g0138
a0002c0002t0059g0200
a0006c0010t0031g0204
 10 HG02451.hp2
HG02559.hp1
HG02622.hp1
others(7): Show 
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02895.hp1
HG03041.hp1
HG03516.hp1
HG03579.hp2
NA18906.hp1
NA20129.hp1
 intron_variant MODIFIER c.251-27803G>A
c.251-27803G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105816511
chr7:105816740 A
A
 G
G
 3 a0001c0001t0022g0224
a0001c0001t0039g0180
a0002c0002t0033g0221
a0001c0001t0022g0224
a0001c0001t0039g0180
a0002c0002t0033g0221
 3 HG02055.hp1
HG03098.hp1
HG03540.hp2
HG02055.hp1
HG03098.hp1
HG03540.hp2
 intron_variant MODIFIER c.251-28032T>C
c.251-28032T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105816740
chr7:105816931 G
G
 C
C
 27 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(24): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0016g0069
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 27 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(24): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-28223C>G
c.251-28223C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105816931
chr7:105817408 T
T
 G
G
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.251-28700A>C
c.251-28700A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105817408
chr7:105817738 G
G
 A
A
 3 a0001c0001t0022g0224
a0001c0001t0039g0180
a0002c0002t0033g0221
a0001c0001t0022g0224
a0001c0001t0039g0180
a0002c0002t0033g0221
 3 HG02055.hp1
HG03098.hp1
HG03540.hp2
HG02055.hp1
HG03098.hp1
HG03540.hp2
 intron_variant MODIFIER c.251-29030C>T
c.251-29030C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105817738
chr7:105817967 T
T
 C
C
 3 a0001c0001t0022g0224
a0001c0001t0039g0180
a0002c0002t0033g0221
a0001c0001t0022g0224
a0001c0001t0039g0180
a0002c0002t0033g0221
 3 HG02055.hp1
HG03098.hp1
HG03540.hp2
HG02055.hp1
HG03098.hp1
HG03540.hp2
 intron_variant MODIFIER c.251-29259A>G
c.251-29259A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105817967
chr7:105818176 A
A
 T
T
 4 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(1): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0060g0192
 4 HG01074.hp1
HG01243.hp1
HG02145.hp1
others(1): Show 
HG01074.hp1
HG01243.hp1
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.251-29468T>A
c.251-29468T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105818176
chr7:105818177 T
T
 A
A
 2 a0001c0001t0013g0236
a0001c0001t0019g0230
a0001c0001t0013g0236
a0001c0001t0019g0230
 2 HG00738.hp1
HG01109.hp2
HG00738.hp1
HG01109.hp2
 intron_variant MODIFIER c.251-29469A>T
c.251-29469A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105818177
chr7:105818372 T
T
 C
C
 1 a0003c0003t0005g0079
a0003c0003t0005g0079
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.251-29664A>G
c.251-29664A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105818372
chr7:105818407 C
C
 T
T
 1 a0001c0001t0014g0038
a0001c0001t0014g0038
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.251-29699G>A
c.251-29699G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105818407
chr7:105818408 G
G
 A
A
 1 a0002c0002t0032g0149
a0002c0002t0032g0149
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.251-29700C>T
c.251-29700C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105818408
chr7:105818472 T
T
 C
C
 29 a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
others(26): Show 
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0014g0123
a0001c0001t0019g0063
a0001c0001t0029g0215
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0008t0014g0165
a0005c0011t0008g0092
 29 HG00558.hp1
HG00673.hp2
HG01167.hp1
others(26): Show 
HG00558.hp1
HG00673.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02647.hp1
HG02965.hp2
HG03669.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19030.hp1
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.251-29764A>G
c.251-29764A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105818472
chr7:105818616 T
T
 C
C
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.251-29908A>G
c.251-29908A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105818616
chr7:105818657 C
C
 T
T
 5 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(2): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0053g0031
a0001c0001t0060g0192
 5 HG01074.hp1
HG01243.hp1
HG01884.hp2
others(2): Show 
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.251-29949G>A
c.251-29949G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105818657
chr7:105818666 T
T
 C
C
 39 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(36): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0179
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 39 HG00741.hp2
HG01346.hp1
HG01433.hp2
others(36): Show 
HG00741.hp2
HG01346.hp1
HG01433.hp2
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18954.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.251-29958A>G
c.251-29958A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105818666
chr7:105818893 AT
AT
 A
A
 129 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(126): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0214
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0030g0212
a0002c0002t0033g0221
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
 129 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(126): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19088.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.251-30186delA
c.251-30186delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105818893
chr7:105818899 T
T
 C
C
 14 a0001c0001t0001g0059
a0001c0001t0002g0239
a0001c0001t0002g0245
others(11): Show 
a0001c0001t0001g0059
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0019g0230
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0057g0229
 14 HG00642.hp2
HG00738.hp1
HG01109.hp2
others(11): Show 
HG00642.hp2
HG00738.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG02148.hp2
HG03490.hp1
HG03491.hp1
HG04199.hp1
 intron_variant MODIFIER c.251-30191A>G
c.251-30191A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105818899
chr7:105818982 C
C
 T
T
 3 a0001c0001t0022g0224
a0001c0001t0039g0180
a0002c0002t0033g0221
a0001c0001t0022g0224
a0001c0001t0039g0180
a0002c0002t0033g0221
 3 HG02055.hp1
HG03098.hp1
HG03540.hp2
HG02055.hp1
HG03098.hp1
HG03540.hp2
 intron_variant MODIFIER c.251-30274G>A
c.251-30274G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105818982
chr7:105819080 G
G
 C
C
 1 a0001c0001t0034g0068
a0001c0001t0034g0068
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.251-30372C>G
c.251-30372C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105819080
chr7:105819170 G
G
 A
A
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.251-30462C>T
c.251-30462C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105819170
chr7:105819358 A
A
 T
T
 3 a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
 3 HG02647.hp1
HG02965.hp2
NA19030.hp1
HG02647.hp1
HG02965.hp2
NA19030.hp1
 intron_variant MODIFIER c.251-30650T>A
c.251-30650T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105819358
chr7:105819442 AT
AT
 A
A
 4 a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
others(1): Show 
a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
a0002c0002t0022g0066
 4 HG01891.hp1
HG02055.hp2
HG03225.hp1
others(1): Show 
HG01891.hp1
HG02055.hp2
HG03225.hp1
HG03225.hp2
 intron_variant MODIFIER c.251-30735delA
c.251-30735delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105819442
chr7:105819445 T
T
 A
A
 4 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(1): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0060g0192
 4 HG01074.hp1
HG01243.hp1
HG02145.hp1
others(1): Show 
HG01074.hp1
HG01243.hp1
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.251-30737A>T
c.251-30737A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105819445
chr7:105819445 TA
TA
 T
T
 6 a0001c0001t0001g0074
a0001c0001t0002g0010
a0001c0001t0002g0167
others(3): Show 
a0001c0001t0001g0074
a0001c0001t0002g0010
a0001c0001t0002g0167
a0001c0001t0003g0090
a0001c0001t0015g0125
a0001c0001t0028g0114
 6 HG00558.hp1
HG01496.hp2
HG01517.hp2
others(3): Show 
HG00558.hp1
HG01496.hp2
HG01517.hp2
NA18957.hp2
NA19043.hp1
NA19088.hp1
 intron_variant MODIFIER c.251-30738delT
c.251-30738delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105819445
chr7:105819474 C
C
 G
G
 6 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(3): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0040g0207
a0002c0002t0030g0212
 6 HG02723.hp1
HG03098.hp2
HG03471.hp2
others(3): Show 
HG02723.hp1
HG03098.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
 intron_variant MODIFIER c.251-30766G>C
c.251-30766G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105819474
chr7:105819561 G
G
 A
A
 1 a0001c0001t0006g0197
a0001c0001t0006g0197
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.251-30853C>T
c.251-30853C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105819561
chr7:105819666 C
C
 T
T
 3 a0001c0001t0022g0224
a0001c0001t0039g0180
a0002c0002t0033g0221
a0001c0001t0022g0224
a0001c0001t0039g0180
a0002c0002t0033g0221
 3 HG02055.hp1
HG03098.hp1
HG03540.hp2
HG02055.hp1
HG03098.hp1
HG03540.hp2
 intron_variant MODIFIER c.251-30958G>A
c.251-30958G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105819666
chr7:105819773 G
G
 A
A
 1 a0001c0001t0025g0240
a0001c0001t0025g0240
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.251-31065C>T
c.251-31065C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105819773
chr7:105819828 C
C
 A
A
 13 a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
others(10): Show 
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0173
a0001c0001t0003g0147
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0023g0183
a0001c0001t0049g0148
a0001c0001t0050g0155
 13 HG00558.hp2
HG01099.hp1
HG02027.hp1
others(10): Show 
HG00558.hp2
HG01099.hp1
HG02027.hp1
HG02129.hp1
HG02165.hp2
HG02602.hp2
NA19009.hp2
NA19056.hp1
NA19068.hp2
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
 intron_variant MODIFIER c.251-31120G>T
c.251-31120G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105819828
chr7:105820126 C
C
 CA
CA
 44 a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0106
others(41): Show 
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0106
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0048
a0001c0001t0002g0245
a0001c0001t0003g0006
a0001c0001t0003g0071
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0005g0206
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0007g0223
a0001c0001t0009g0054
a0001c0001t0010g0051
a0001c0001t0010g0228
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0029g0072
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0046g0138
a0001c0005t0007g0209
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
 44 HG00642.hp2
HG00735.hp1
HG00735.hp2
others(41): Show 
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01109.hp2
HG01175.hp2
HG01256.hp2
HG01258.hp2
HG01358.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp1
HG02132.hp1
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02738.hp2
HG02895.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03942.hp2
HG04199.hp1
NA18906.hp1
NA18995.hp1
NA19010.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-31419dupT
c.251-31419dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105820126
chr7:105820126 C
C
 CAA
CAA
 17 a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0003g0070
others(14): Show 
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0003g0070
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0016g0069
a0001c0001t0022g0224
a0001c0001t0027g0134
a0001c0001t0044g0110
a0001c0001t0053g0031
a0001c0001t0056g0210
a0002c0002t0032g0149
a0006c0010t0031g0204
a0007c0009t0007g0096
 17 HG00738.hp1
HG01243.hp2
HG01433.hp1
others(14): Show 
HG00738.hp1
HG01243.hp2
HG01433.hp1
HG01884.hp2
HG02055.hp1
HG02280.hp2
HG02559.hp1
HG02630.hp2
HG02723.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp2
HG03579.hp2
NA19043.hp2
 intron_variant MODIFIER c.251-31420_251-3141
others(6): Show 
c.251-31420_251-31419dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105820126
chr7:105820126 C
C
 CAAAAAAA
CAAAAAAA
 6 a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
others(3): Show 
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0173
a0001c0001t0003g0147
a0001c0001t0009g0146
 6 HG02129.hp1
HG02165.hp2
NA19009.hp2
others(3): Show 
HG02129.hp1
HG02165.hp2
NA19009.hp2
NA19068.hp2
NA19087.hp2
NA19088.hp2
 intron_variant MODIFIER c.251-31425_251-3141
others(11): Show 
c.251-31425_251-31419dupTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105820126
chr7:105820126 CAAAAA
CAAAAA
 C
C
 5 a0001c0001t0003g0238
a0001c0001t0015g0193
a0001c0001t0017g0194
others(2): Show 
a0001c0001t0003g0238
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0057g0229
 5 HG01074.hp1
HG01243.hp1
HG01255.hp2
others(2): Show 
HG01074.hp1
HG01243.hp1
HG01255.hp2
HG03209.hp1
HG03491.hp1
 intron_variant MODIFIER c.251-31423_251-3141
others(9): Show 
c.251-31423_251-31419delTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105820126
chr7:105820126 CAAAAAAA
CAAAAAAA
 C
C
 6 a0001c0001t0001g0145
a0001c0001t0004g0246
a0001c0001t0005g0248
others(3): Show 
a0001c0001t0001g0145
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0011g0012
a0001c0001t0027g0008
 6 HG02738.hp1
HG02896.hp1
HG03139.hp2
others(3): Show 
HG02738.hp1
HG02896.hp1
HG03139.hp2
NA18970.hp1
NA19003.hp1
NA19060.hp1
 intron_variant MODIFIER c.251-31425_251-3141
others(11): Show 
c.251-31425_251-31419delTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105820126
chr7:105820126 CAAAAAAA
others(1): Show 
CAAAAAAAA
 C
C
 70 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(67): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0010g0032
a0001c0001t0012g0028
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0020g0169
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0041g0196
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
a0004c0013t0036g0107
 70 HG00280.hp1
HG00280.hp2
HG00642.hp1
others(67): Show 
HG00280.hp1
HG00280.hp2
HG00642.hp1
HG00673.hp1
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02056.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02735.hp1
HG02895.hp2
HG03041.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp2
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19074.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.251-31426_251-3141
others(12): Show 
c.251-31426_251-31419delTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105820126
chr7:105820126 CAAAAAAA
others(2): Show 
CAAAAAAAAA
 C
C
 29 a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
others(26): Show 
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0014g0123
a0001c0001t0019g0063
a0001c0001t0029g0215
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0008t0014g0165
a0005c0011t0008g0092
 29 HG00558.hp1
HG00673.hp2
HG01167.hp1
others(26): Show 
HG00558.hp1
HG00673.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02647.hp1
HG02965.hp2
HG03669.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19030.hp1
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.251-31427_251-3141
others(13): Show 
c.251-31427_251-31419delTTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105820126
chr7:105820162 G
G
 T
T
 4 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(1): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0060g0192
 4 HG01074.hp1
HG01243.hp1
HG02145.hp1
others(1): Show 
HG01074.hp1
HG01243.hp1
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.251-31454C>A
c.251-31454C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105820162
chr7:105820335 A
A
 T
T
 110 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(107): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0033g0221
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
 110 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(107): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02647.hp1
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.251-31627T>A
c.251-31627T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105820335
chr7:105820445 A
A
 G
G
 110 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(107): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0033g0221
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
 110 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(107): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02647.hp1
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.251-31737T>C
c.251-31737T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105820445
chr7:105820582 C
C
 T
T
 1 a0001c0001t0052g0133
a0001c0001t0052g0133
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.251-31874G>A
c.251-31874G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105820582
chr7:105820897 A
A
 T
T
 2 a0001c0001t0001g0145
a0001c0001t0013g0156
a0001c0001t0001g0145
a0001c0001t0013g0156
 2 HG02895.hp2
HG02896.hp1
HG02895.hp2
HG02896.hp1
 intron_variant MODIFIER c.251-32189T>A
c.251-32189T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105820897
chr7:105821101 G
G
 A
A
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.251-32393C>T
c.251-32393C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105821101
chr7:105821133 G
G
 A
A
 53 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(50): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 53 HG00280.hp2
HG00642.hp1
HG00673.hp1
others(50): Show 
HG00280.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp1
HG02735.hp1
HG02738.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19086.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.251-32425C>T
c.251-32425C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105821133
chr7:105821186 T
T
 A
A
 49 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(46): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0214
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0179
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0056g0210
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0212
 49 HG00741.hp2
HG01346.hp1
HG01433.hp2
others(46): Show 
HG00741.hp2
HG01346.hp1
HG01433.hp2
HG01516.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02723.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18954.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.251-32478A>T
c.251-32478A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105821186
chr7:105821330 C
C
 T
T
 2 a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0012g0115
a0001c0001t0016g0061
 2 HG01943.hp1
HG01952.hp1
HG01943.hp1
HG01952.hp1
 intron_variant MODIFIER c.251-32622G>A
c.251-32622G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105821330
chr7:105821331 G
G
 A
A
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.251-32623C>T
c.251-32623C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105821331
chr7:105821390 T
T
 G
G
 1 a0001c0001t0003g0070
a0001c0001t0003g0070
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.251-32682A>C
c.251-32682A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105821390
chr7:105821405 T
T
 C
C
 4 a0001c0001t0007g0223
a0001c0001t0022g0224
a0001c0001t0039g0180
others(1): Show 
a0001c0001t0007g0223
a0001c0001t0022g0224
a0001c0001t0039g0180
a0002c0002t0033g0221
 4 HG02055.hp1
HG03098.hp1
HG03516.hp1
others(1): Show 
HG02055.hp1
HG03098.hp1
HG03516.hp1
HG03540.hp2
 intron_variant MODIFIER c.251-32697A>G
c.251-32697A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105821405
chr7:105821526 G
G
 A
A
 11 a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
others(8): Show 
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0005g0027
a0001c0001t0007g0057
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0018g0046
a0001c0001t0043g0105
a0001c0001t0064g0098
 11 HG01934.hp2
HG02015.hp2
HG02027.hp2
others(8): Show 
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02071.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
NA18747.hp2
NA18945.hp2
NA19005.hp1
 intron_variant MODIFIER c.251-32818C>T
c.251-32818C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105821526
chr7:105821773 C
C
 A
A
 1 a0001c0001t0009g0013
a0001c0001t0009g0013
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.251-33065G>T
c.251-33065G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105821773
chr7:105821887 A
A
 G
G
 8 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
others(5): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 8 HG02056.hp1
HG02135.hp1
NA18989.hp1
others(5): Show 
HG02056.hp1
HG02135.hp1
NA18989.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.251-33179T>C
c.251-33179T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105821887
chr7:105822262 C
C
 A
A
 77 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0059
others(74): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0008g0075
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0212
a0002c0002t0032g0149
 77 HG00642.hp2
HG00738.hp1
HG00741.hp2
others(74): Show 
HG00642.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02723.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG03688.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-33554G>T
c.251-33554G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105822262
chr7:105822568 T
T
 G
G
 1 a0001c0001t0050g0155
a0001c0001t0050g0155
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.251-33860A>C
c.251-33860A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105822568
chr7:105822858 T
T
 G
G
 2 a0002c0002t0030g0208
a0007c0009t0007g0096
a0002c0002t0030g0208
a0007c0009t0007g0096
 2 HG02630.hp2
HG02896.hp2
HG02630.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-34150A>C
c.251-34150A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105822858
chr7:105822894 T
T
 C
C
 46 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(43): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0214
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0056g0210
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0212
 46 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(43): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01891.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02723.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.251-34186A>G
c.251-34186A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105822894
chr7:105823025 A
A
 G
G
 204 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(201): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 204 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(201): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-34317T>C
c.251-34317T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105823025
chr7:105823142 T
T
 C
C
 1 a0001c0001t0005g0182
a0001c0001t0005g0182
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.251-34434A>G
c.251-34434A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105823142
chr7:105823228 A
A
 C
C
 8 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
others(5): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 8 HG02056.hp1
HG02135.hp1
NA18989.hp1
others(5): Show 
HG02056.hp1
HG02135.hp1
NA18989.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.251-34520T>G
c.251-34520T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105823228
chr7:105823245 C
C
 T
T
 2 a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0011g0164
a0001c0001t0011g0170
 2 NA18950.hp1
NA19085.hp2
NA18950.hp1
NA19085.hp2
 intron_variant MODIFIER c.251-34537G>A
c.251-34537G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105823245
chr7:105823337 A
A
 G
G
 3 a0002c0002t0030g0208
a0002c0002t0032g0149
a0007c0009t0007g0096
a0002c0002t0030g0208
a0002c0002t0032g0149
a0007c0009t0007g0096
 3 HG02630.hp2
HG02818.hp2
HG02896.hp2
HG02630.hp2
HG02818.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-34629T>C
c.251-34629T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105823337
chr7:105823365 G
G
 A
A
 251 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(248): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 251 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(248): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-34657C>T
c.251-34657C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105823365
chr7:105823403 A
A
 G
G
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.251-34695T>C
c.251-34695T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105823403
chr7:105823442 C
C
 T
T
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.251-34734G>A
c.251-34734G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105823442
chr7:105823529 A
A
 G
G
 36 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(33): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 36 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(33): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.251-34821T>C
c.251-34821T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105823529
chr7:105823599 T
T
 G
G
 1 a0001c0001t0005g0025
a0001c0001t0005g0025
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.251-34891A>C
c.251-34891A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105823599
chr7:105823765 G
G
 A
A
 3 a0001c0001t0001g0009
a0001c0001t0002g0010
a0001c0001t0009g0020
a0001c0001t0001g0009
a0001c0001t0002g0010
a0001c0001t0009g0020
 3 HG01496.hp2
HG01981.hp1
NA18954.hp1
HG01496.hp2
HG01981.hp1
NA18954.hp1
 intron_variant MODIFIER c.251-35057C>T
c.251-35057C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105823765
chr7:105823806 A
A
 G
G
 5 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(2): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0053g0031
a0001c0001t0060g0192
 5 HG01074.hp1
HG01243.hp1
HG01884.hp2
others(2): Show 
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.251-35098T>C
c.251-35098T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105823806
chr7:105823849 G
G
 A
A
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.251-35141C>T
c.251-35141C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105823849
chr7:105824206 C
C
 T
T
 250 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(247): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 250 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(247): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-35498G>A
c.251-35498G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105824206
chr7:105824294 G
G
 T
T
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.251-35586C>A
c.251-35586C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105824294
chr7:105824369 G
G
 C
C
 4 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(1): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0060g0192
 4 HG01074.hp1
HG01243.hp1
HG02145.hp1
others(1): Show 
HG01074.hp1
HG01243.hp1
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.251-35661C>G
c.251-35661C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105824369
chr7:105824376 A
A
 G
G
 1 a0001c0001t0007g0202
a0001c0001t0007g0202
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.251-35668T>C
c.251-35668T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105824376
chr7:105824508 A
A
 G
G
 2 a0001c0001t0001g0145
a0001c0001t0013g0156
a0001c0001t0001g0145
a0001c0001t0013g0156
 2 HG02895.hp2
HG02896.hp1
HG02895.hp2
HG02896.hp1
 intron_variant MODIFIER c.251-35800T>C
c.251-35800T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105824508
chr7:105824723 C
C
 T
T
 1 a0001c0001t0014g0038
a0001c0001t0014g0038
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.251-36015G>A
c.251-36015G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105824723
chr7:105824849 G
G
 A
A
 204 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(201): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 204 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(201): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-36141C>T
c.251-36141C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105824849
chr7:105824921 C
C
 CA
CA
 29 a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0042
others(26): Show 
a0001c0001t0001g0088
a0001c0001t0001g0174
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0014g0123
a0001c0001t0019g0063
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0008t0014g0165
a0005c0011t0008g0092
 29 HG00558.hp1
HG00673.hp2
HG01167.hp1
others(26): Show 
HG00558.hp1
HG00673.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG01978.hp2
HG02083.hp1
HG02148.hp1
HG02280.hp1
HG02300.hp1
HG02738.hp2
HG03669.hp1
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19068.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.251-36214dupT
c.251-36214dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105824921
chr7:105824928 A
A
 G
G
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.251-36220T>C
c.251-36220T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105824928
chr7:105824935 C
C
 A
A
 1 a0001c0001t0003g0100
a0001c0001t0003g0100
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.251-36227G>T
c.251-36227G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105824935
chr7:105824936 A
A
 C
C
 1 a0001c0001t0003g0100
a0001c0001t0003g0100
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.251-36228T>G
c.251-36228T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105824936
chr7:105824943 T
T
 A
A
 2 a0001c0001t0003g0100
a0001c0001t0009g0013
a0001c0001t0003g0100
a0001c0001t0009g0013
 2 HG02155.hp2
HG03239.hp2
HG02155.hp2
HG03239.hp2
 intron_variant MODIFIER c.251-36235A>T
c.251-36235A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105824943
chr7:105825015 T
T
 C
C
 13 a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
others(10): Show 
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0173
a0001c0001t0003g0147
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0023g0183
a0001c0001t0049g0148
a0001c0001t0050g0155
 13 HG00558.hp2
HG01099.hp1
HG02027.hp1
others(10): Show 
HG00558.hp2
HG01099.hp1
HG02027.hp1
HG02129.hp1
HG02165.hp2
HG02602.hp2
NA19009.hp2
NA19056.hp1
NA19068.hp2
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
 intron_variant MODIFIER c.251-36307A>G
c.251-36307A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825015
chr7:105825288 C
C
 T
T
 3 a0001c0001t0001g0085
a0001c0001t0006g0034
a0001c0001t0024g0077
a0001c0001t0001g0085
a0001c0001t0006g0034
a0001c0001t0024g0077
 3 HG00673.hp1
NA18950.hp2
NA19060.hp2
HG00673.hp1
NA18950.hp2
NA19060.hp2
 intron_variant MODIFIER c.251-36580G>A
c.251-36580G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825288
chr7:105825362 G
G
 A
A
 26 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(23): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0016g0069
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 26 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(23): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-36654C>T
c.251-36654C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825362
chr7:105825614 A
A
 AAGCATGT
others(205): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC
TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC
TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT
GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG
TAGAGACGGGGTT
 1 a0001c0001t0052g0133
a0001c0001t0052g0133
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.251-36907_251-3690
others(216): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC
CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC
TCAAAAAAAAAAAAAAAAAAAAAAAAAAAACATGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105825614 A
A
 AAGCATGT
others(205): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC
TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC
TCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT
GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG
TAGAGACGGGGTT
 2 a0001c0001t0003g0235
a0001c0001t0013g0242
a0001c0001t0003g0235
a0001c0001t0013g0242
 2 HG01256.hp2
HG01496.hp1
HG01256.hp2
HG01496.hp1
 intron_variant MODIFIER c.251-36907_251-3690
others(216): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGC
CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC
TCAAAAAAAAAAAAAAAAAAAAAAAAAAAACATGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105825614 A
A
 AAGCATGT
others(206): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG
CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG
CTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC
TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA
GTAGAGACGGGGTT
 1 a0001c0001t0013g0241
a0001c0001t0013g0241
 1 HG01258.hp2
HG01258.hp2
 intron_variant MODIFIER c.251-36907_251-3690
others(217): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGC
CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC
TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105825614 A
A
 AAGCATGT
others(219): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG
AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC
GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG
CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATT
TTTTGTATTTTTAGTAGAGACGGGGTT
 1 a0002c0002t0032g0149
a0002c0002t0032g0149
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.251-36907_251-3690
others(230): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC
CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC
TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105825614 A
A
 AAGCATGT
others(223): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA
TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC
TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT
AATTTTTTGTATTTTTAGTAGAGACGGGGTT
 4 a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0243
others(1): Show 
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0021g0184
 4 HG00738.hp1
HG01243.hp2
HG01515.hp1
others(1): Show 
HG00738.hp1
HG01243.hp2
HG01515.hp1
NA19240.hp1
 intron_variant MODIFIER c.251-36907_251-3690
others(234): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC
CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC
TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA
TGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105825614 A
A
 AAGCATGT
others(226): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG
CGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT
GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG
GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT
 2 a0001c0001t0027g0134
a0001c0001t0057g0229
a0001c0001t0027g0134
a0001c0001t0057g0229
 2 HG01255.hp2
HG03139.hp1
HG01255.hp2
HG03139.hp1
 intron_variant MODIFIER c.251-36907_251-3690
others(237): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC
CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC
TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ACATGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105825614 A
A
 AAGCATGT
others(227): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC
GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC
TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCC
GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT
 3 a0001c0001t0001g0181
a0001c0001t0019g0230
a0001c0001t0044g0110
a0001c0001t0001g0181
a0001c0001t0019g0230
a0001c0001t0044g0110
 3 HG01109.hp2
HG02818.hp1
HG02965.hp1
HG01109.hp2
HG02818.hp1
HG02965.hp1
 intron_variant MODIFIER c.251-36907_251-3690
others(238): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC
CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC
TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AACATGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105825614 A
A
 AAGCATGT
others(228): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG
CGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC
CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCC
CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT
 4 a0001c0001t0001g0222
a0001c0001t0025g0240
a0001c0001t0026g0234
others(1): Show 
a0001c0001t0001g0222
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0034g0068
 4 HG02148.hp2
HG02280.hp2
HG02572.hp1
others(1): Show 
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG03490.hp1
 intron_variant MODIFIER c.251-36907_251-3690
others(239): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC
CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC
TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAACATGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105825614 A
A
 AAGCATGT
others(230): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT
GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC
TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACG
CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT
 2 a0001c0001t0008g0075
a0001c0001t0016g0069
a0001c0001t0008g0075
a0001c0001t0016g0069
 2 HG03130.hp1
HG03130.hp2
HG03130.hp1
HG03130.hp2
 intron_variant MODIFIER c.251-36907_251-3690
others(241): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC
CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC
TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAACATGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105825614 A
A
 AAGCATGT
others(231): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG
TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT
CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCAC
GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.251-36907_251-3690
others(242): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC
CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC
TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAACATGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105825614 A
A
 AAGCATGT
others(229): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG
TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT
CTCCTGCCTCAGCCTCCCGAGTATGGGACTACAGGCGCCCGCCACCACGC
CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT
 1 a0001c0001t0003g0150
a0001c0001t0003g0150
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.251-36907_251-3690
others(240): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCATACTCGGGAGGC
TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG
AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAACATGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105825614 A
A
 AAGCATGT
others(230): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA
GTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT
TCTCCTGCCTCAGCCTCCCGAGTATGGGACTACAGGCGCCCGCCACCACG
CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT
 1 a0001c0001t0035g0151
a0001c0001t0035g0151
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-36907_251-3690
others(241): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCATACTCGGGAGGC
TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG
AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAACATGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105825614 A
A
 AAGCATGT
others(233): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC
AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA
TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC
ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT
 1 a0001c0001t0002g0245
a0001c0001t0002g0245
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.251-36907_251-3690
others(244): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC
CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC
TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAACATGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105825614 A
A
 AAGCATGT
others(235): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT
GCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC
CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA
CCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT
 1 a0001c0001t0003g0238
a0001c0001t0003g0238
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.251-36907_251-3690
others(246): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC
CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC
TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAACATGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105825614 A
A
 AAGCATGT
others(237): Show 
AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA
GTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC
GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC
CACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT
 1 a0001c0001t0002g0239
a0001c0001t0002g0239
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.251-36907_251-3690
others(248): Show 
c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA
AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC
CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC
TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAACATGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105825614
chr7:105826046 T
T
 G
G
 5 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(2): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0053g0031
a0001c0001t0060g0192
 5 HG01074.hp1
HG01243.hp1
HG01884.hp2
others(2): Show 
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.251-37338A>C
c.251-37338A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105826046
chr7:105826055 C
C
 G
G
 2 a0001c0001t0003g0043
a0001c0001t0008g0089
a0001c0001t0003g0043
a0001c0001t0008g0089
 2 HG02132.hp2
HG02523.hp1
HG02132.hp2
HG02523.hp1
 intron_variant MODIFIER c.251-37347G>C
c.251-37347G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105826055
chr7:105826594 G
G
 T
T
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.251-37886C>A
c.251-37886C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105826594
chr7:105826651 C
C
 T
T
 5 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(2): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0053g0031
a0001c0001t0060g0192
 5 HG01074.hp1
HG01243.hp1
HG01884.hp2
others(2): Show 
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.251-37943G>A
c.251-37943G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105826651
chr7:105826684 A
A
 G
G
 26 a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
others(23): Show 
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0014g0123
a0001c0001t0019g0063
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0008t0014g0165
a0005c0011t0008g0092
 26 HG00558.hp1
HG00673.hp2
HG01167.hp1
others(23): Show 
HG00558.hp1
HG00673.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG03669.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.251-37976T>C
c.251-37976T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105826684
chr7:105826759 G
G
 T
T
 6 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(3): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0040g0207
a0002c0002t0030g0212
 6 HG02723.hp1
HG03098.hp2
HG03471.hp2
others(3): Show 
HG02723.hp1
HG03098.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
 intron_variant MODIFIER c.251-38051C>A
c.251-38051C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105826759
chr7:105827083 C
C
 T
T
 125 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(122): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0033g0221
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
 125 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(122): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02647.hp1
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.251-38375G>A
c.251-38375G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105827083
chr7:105827384 T
T
 C
C
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.251-38676A>G
c.251-38676A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105827384
chr7:105827495 T
T
 C
C
 2 a0002c0002t0030g0208
a0007c0009t0007g0096
a0002c0002t0030g0208
a0007c0009t0007g0096
 2 HG02630.hp2
HG02896.hp2
HG02630.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-38787A>G
c.251-38787A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105827495
chr7:105827565 T
T
 C
C
 1 a0001c0001t0001g0214
a0001c0001t0001g0214
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.251-38857A>G
c.251-38857A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105827565
chr7:105827649 G
G
 T
T
 1 a0001c0001t0004g0039
a0001c0001t0004g0039
 1 NA19086.hp1
NA19086.hp1
 intron_variant MODIFIER c.251-38941C>A
c.251-38941C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105827649
chr7:105827687 A
A
 G
G
 1 a0001c0001t0012g0115
a0001c0001t0012g0115
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.251-38979T>C
c.251-38979T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105827687
chr7:105828101 C
C
 CA
CA
 22 a0001c0001t0001g0009
a0001c0001t0001g0085
a0001c0001t0002g0010
others(19): Show 
a0001c0001t0001g0009
a0001c0001t0001g0085
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0004g0211
a0001c0001t0005g0014
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0089
a0001c0001t0009g0020
a0001c0001t0011g0012
a0001c0001t0014g0166
a0001c0001t0024g0077
a0001c0001t0040g0207
a0001c0001t0058g0018
a0002c0002t0030g0212
 22 HG00673.hp1
HG01496.hp2
HG01981.hp1
others(19): Show 
HG00673.hp1
HG01496.hp2
HG01981.hp1
HG01981.hp2
HG02132.hp2
HG02155.hp1
HG02165.hp1
HG02523.hp1
HG03098.hp2
HG03471.hp2
HG03831.hp1
HG04199.hp2
NA18522.hp1
NA18945.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18962.hp2
NA18970.hp1
NA18994.hp2
NA19060.hp2
NA19091.hp1
 intron_variant MODIFIER c.251-39394dupT
c.251-39394dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105828101
chr7:105828103 A
A
 C
C
 4 a0001c0001t0004g0084
a0001c0001t0033g0040
a0001c0001t0051g0035
others(1): Show 
a0001c0001t0004g0084
a0001c0001t0033g0040
a0001c0001t0051g0035
a0003c0003t0005g0079
 4 HG01069.hp2
HG01081.hp2
HG01346.hp2
others(1): Show 
HG01069.hp2
HG01081.hp2
HG01346.hp2
HG06807.hp2
 intron_variant MODIFIER c.251-39395T>G
c.251-39395T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105828103
chr7:105828489 CA
CA
 C
C
 8 a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0007g0218
others(5): Show 
a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0007g0218
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0020g0169
a0001c0001t0031g0172
a0004c0013t0036g0107
 8 HG00280.hp1
HG00741.hp1
HG01175.hp1
others(5): Show 
HG00280.hp1
HG00741.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG03041.hp2
 intron_variant MODIFIER c.251-39782delT
c.251-39782delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105828489
chr7:105828493 A
A
 G
G
 125 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(122): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0033g0221
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
 125 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(122): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02647.hp1
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.251-39785T>C
c.251-39785T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105828493
chr7:105828848 T
T
 C
C
 1 a0001c0008t0014g0165
a0001c0008t0014g0165
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.251-40140A>G
c.251-40140A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105828848
chr7:105828864 A
A
 G
G
 1 a0001c0001t0028g0037
a0001c0001t0028g0037
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.251-40156T>C
c.251-40156T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105828864
chr7:105828880 C
C
 T
T
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.251-40172G>A
c.251-40172G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105828880
chr7:105828972 A
A
 C
C
 1 a0001c0001t0012g0232
a0001c0001t0012g0232
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.251-40264T>G
c.251-40264T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105828972
chr7:105829020 C
C
 T
T
 2 a0002c0002t0030g0208
a0007c0009t0007g0096
a0002c0002t0030g0208
a0007c0009t0007g0096
 2 HG02630.hp2
HG02896.hp2
HG02630.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-40312G>A
c.251-40312G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105829020
chr7:105829192 C
C
 T
T
 8 a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0007g0218
others(5): Show 
a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0007g0218
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0020g0169
a0001c0001t0031g0172
a0004c0013t0036g0107
 8 HG00280.hp1
HG00741.hp1
HG01175.hp1
others(5): Show 
HG00280.hp1
HG00741.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG03041.hp2
 intron_variant MODIFIER c.251-40484G>A
c.251-40484G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105829192
chr7:105829233 C
C
 T
T
 1 a0001c0001t0007g0057
a0001c0001t0007g0057
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.251-40525G>A
c.251-40525G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105829233
chr7:105829267 C
C
 CAAACA
CAAACA
 123 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(120): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0033g0221
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
 123 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(120): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02647.hp1
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.251-40564_251-4056
others(9): Show 
c.251-40564_251-40560dupTGTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105829267
chr7:105829267 C
C
 CAAACAAA
others(3): Show 
CAAACAAAACA
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.251-40569_251-4056
others(14): Show 
c.251-40569_251-40560dupTGTTTTGTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105829267
chr7:105829577 C
C
 T
T
 2 a0002c0002t0030g0208
a0007c0009t0007g0096
a0002c0002t0030g0208
a0007c0009t0007g0096
 2 HG02630.hp2
HG02896.hp2
HG02630.hp2
HG02896.hp2
 intron_variant MODIFIER c.251-40869G>A
c.251-40869G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105829577
chr7:105829645 C
C
 T
T
 1 a0001c0001t0006g0001
a0001c0001t0006g0001
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.251-40937G>A
c.251-40937G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105829645
chr7:105829765 C
C
 T
T
 5 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(2): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0053g0031
a0001c0001t0060g0192
 5 HG01074.hp1
HG01243.hp1
HG01884.hp2
others(2): Show 
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.251-41057G>A
c.251-41057G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105829765
chr7:105829879 A
A
 C
C
 28 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(25): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 28 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(25): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-41171T>G
c.251-41171T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105829879
chr7:105830040 T
T
 C
C
 126 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(123): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0033g0221
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
 126 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(123): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02647.hp1
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.251-41332A>G
c.251-41332A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105830040
chr7:105830104 G
G
 A
A
 5 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(2): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0053g0031
a0001c0001t0060g0192
 5 HG01074.hp1
HG01243.hp1
HG01884.hp2
others(2): Show 
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.251-41396C>T
c.251-41396C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105830104
chr7:105830354 A
A
 G
G
 1 a0001c0001t0004g0023
a0001c0001t0004g0023
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.251-41646T>C
c.251-41646T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105830354
chr7:105830401 A
A
 G
G
 3 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0014g0038
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0014g0038
 3 HG00642.hp1
HG01081.hp1
HG03831.hp2
HG00642.hp1
HG01081.hp1
HG03831.hp2
 intron_variant MODIFIER c.251-41693T>C
c.251-41693T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105830401
chr7:105830418 T
T
 C
C
 1 a0001c0001t0016g0061
a0001c0001t0016g0061
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.251-41710A>G
c.251-41710A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105830418
chr7:105830519 G
G
 A
A
 1 a0001c0001t0049g0148
a0001c0001t0049g0148
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.251-41811C>T
c.251-41811C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105830519
chr7:105830698 A
A
 C
C
 35 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(32): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 35 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(32): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.251-41990T>G
c.251-41990T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105830698
chr7:105830938 C
C
 G
G
 28 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(25): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 28 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(25): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-42230G>C
c.251-42230G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105830938
chr7:105830950 C
C
 T
T
 198 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(195): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 198 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(195): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.251-42242G>A
c.251-42242G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105830950
chr7:105831021 A
A
 G
G
 119 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(116): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0020g0169
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0001c0008t0014g0165
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
 119 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(116): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
HG03041.hp2
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03669.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.251-42313T>C
c.251-42313T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105831021
chr7:105831489 A
A
 C
C
 1 a0001c0001t0021g0184
a0001c0001t0021g0184
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.251-42781T>G
c.251-42781T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105831489
chr7:105831759 G
G
 A
A
 13 a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
others(10): Show 
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0173
a0001c0001t0003g0147
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0023g0183
a0001c0001t0049g0148
a0001c0001t0050g0155
 13 HG00558.hp2
HG01099.hp1
HG02027.hp1
others(10): Show 
HG00558.hp2
HG01099.hp1
HG02027.hp1
HG02129.hp1
HG02165.hp2
HG02602.hp2
NA19009.hp2
NA19056.hp1
NA19068.hp2
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
 intron_variant MODIFIER c.251-43051C>T
c.251-43051C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105831759
chr7:105832306 G
G
 A
A
 69 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(66): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 69 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(66): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19009.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
 intron_variant MODIFIER c.250+43506C>T
c.250+43506C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105832306
chr7:105832338 T
T
 A
A
 9 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
others(6): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 9 HG02056.hp1
HG02135.hp1
NA18989.hp1
others(6): Show 
HG02056.hp1
HG02135.hp1
NA18989.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+43474A>T
c.250+43474A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105832338
chr7:105832494 G
G
 A
A
 2 a0002c0002t0030g0208
a0007c0009t0007g0096
a0002c0002t0030g0208
a0007c0009t0007g0096
 2 HG02630.hp2
HG02896.hp2
HG02630.hp2
HG02896.hp2
 intron_variant MODIFIER c.250+43318C>T
c.250+43318C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105832494
chr7:105832837 C
C
 T
T
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+42975G>A
c.250+42975G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105832837
chr7:105832853 C
C
 T
T
 1 a0001c0001t0002g0162
a0001c0001t0002g0162
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.250+42959G>A
c.250+42959G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105832853
chr7:105832914 A
A
 T
T
 61 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(58): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0218
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0020g0169
a0001c0001t0025g0104
a0001c0001t0031g0172
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0012t0003g0047
a0002c0002t0030g0208
a0002c0002t0030g0212
a0004c0013t0036g0107
a0007c0009t0007g0096
 61 HG00280.hp1
HG00741.hp1
HG00741.hp2
others(58): Show 
HG00280.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01175.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01433.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02630.hp2
HG02723.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG03041.hp2
HG03098.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+42898T>A
c.250+42898T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105832914
chr7:105832951 G
G
 T
T
 196 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(193): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 196 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(193): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+42861C>A
c.250+42861C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105832951
chr7:105833270 C
C
 T
T
 23 a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0145
others(20): Show 
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0249
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0041g0196
a0004c0013t0036g0107
 23 HG00280.hp1
HG00741.hp1
HG01175.hp1
others(20): Show 
HG00280.hp1
HG00741.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG02056.hp1
HG02135.hp1
HG02559.hp2
HG02572.hp2
HG02895.hp2
HG02896.hp1
HG03041.hp2
NA18989.hp1
NA19003.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+42542G>A
c.250+42542G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105833270
chr7:105833331 G
G
 A
A
 51 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(48): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0214
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0012t0003g0047
a0002c0002t0030g0208
a0002c0002t0030g0212
a0007c0009t0007g0096
 51 HG00741.hp2
HG01074.hp1
HG01243.hp1
others(48): Show 
HG00741.hp2
HG01074.hp1
HG01243.hp1
HG01433.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02630.hp2
HG02723.hp1
HG02896.hp2
HG03098.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+42481C>T
c.250+42481C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105833331
chr7:105833336 C
C
 T
T
 14 a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
others(11): Show 
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0173
a0001c0001t0003g0147
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0023g0183
a0001c0001t0049g0148
a0001c0001t0050g0155
 14 HG00558.hp2
HG01099.hp1
HG02027.hp1
others(11): Show 
HG00558.hp2
HG01099.hp1
HG02027.hp1
HG02129.hp1
HG02165.hp2
HG02602.hp2
NA18945.hp2
NA19009.hp2
NA19056.hp1
NA19068.hp2
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
 intron_variant MODIFIER c.250+42476G>A
c.250+42476G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105833336
chr7:105833441 A
A
 G
G
 1 a0001c0001t0001g0163
a0001c0001t0001g0163
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.250+42371T>C
c.250+42371T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105833441
chr7:105833543 A
A
 G
G
 205 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(202): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 205 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(202): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+42269T>C
c.250+42269T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105833543
chr7:105833604 TTC
TTC
 T
T
 28 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(25): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 28 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(25): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+42206_250+4220
others(6): Show 
c.250+42206_250+42207delGA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105833604
chr7:105833613 G
G
 T
T
 1 a0001c0001t0009g0097
a0001c0001t0009g0097
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.250+42199C>A
c.250+42199C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105833613
chr7:105833669 A
A
 T
T
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.250+42143T>A
c.250+42143T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105833669
chr7:105834784 C
C
 T
T
 35 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(32): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 35 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(32): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+41028G>A
c.250+41028G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105834784
chr7:105834829 A
A
 C
C
 77 a0001c0001t0001g0059
a0001c0001t0001g0088
a0001c0001t0001g0102
others(74): Show 
a0001c0001t0001g0059
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0127
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0008g0249
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0233
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0019g0063
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0044g0110
a0001c0001t0047g0121
a0001c0001t0052g0133
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0008t0014g0165
a0002c0002t0032g0149
a0004c0013t0036g0107
a0005c0011t0008g0092
 77 HG00280.hp1
HG00558.hp1
HG00642.hp2
others(74): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp2
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG01978.hp2
HG02056.hp1
HG02083.hp1
HG02129.hp2
HG02135.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02280.hp2
HG02300.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG03669.hp1
HG04199.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp1
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+40983T>G
c.250+40983T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105834829
chr7:105834884 C
C
 T
T
 1 a0001c0001t0011g0143
a0001c0001t0011g0143
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.250+40928G>A
c.250+40928G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105834884
chr7:105835148 G
G
 GT
GT
 14 a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
others(11): Show 
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0160
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0011g0157
a0001c0001t0019g0063
a0001c0001t0042g0161
a0001c0001t0054g0087
 14 HG00673.hp2
HG01168.hp1
HG01261.hp2
others(11): Show 
HG00673.hp2
HG01168.hp1
HG01261.hp2
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02155.hp2
HG02300.hp1
HG03669.hp1
NA18962.hp1
NA18970.hp2
NA18995.hp2
NA19003.hp2
NA19010.hp1
 intron_variant MODIFIER c.250+40663_250+4066
others(5): Show 
c.250+40663_250+40664insA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835148
chr7:105835148 G
G
 GTT
GTT
 11 a0001c0001t0002g0042
a0001c0001t0002g0167
a0001c0001t0003g0090
others(8): Show 
a0001c0001t0002g0042
a0001c0001t0002g0167
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0010g0095
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0047g0121
a0001c0008t0014g0165
a0005c0011t0008g0092
 11 HG00558.hp1
HG01167.hp1
HG01169.hp2
others(8): Show 
HG00558.hp1
HG01167.hp1
HG01169.hp2
HG01358.hp2
HG02148.hp1
NA18948.hp2
NA18950.hp1
NA18989.hp2
NA19000.hp1
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.250+40663_250+4066
others(6): Show 
c.250+40663_250+40664insAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835148
chr7:105835149 G
G
 GT
GT
 37 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(34): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0056g0210
a0001c0001t0062g0007
a0001c0005t0007g0209
a0001c0012t0003g0047
a0002c0002t0030g0208
a0007c0009t0007g0096
 37 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(34): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01891.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02630.hp2
HG02896.hp2
HG03225.hp2
HG03688.hp1
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
 intron_variant MODIFIER c.250+40662dupA
c.250+40662dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835149
chr7:105835149 G
G
 GTT
GTT
 6 a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
others(3): Show 
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0040g0207
a0001c0001t0064g0098
a0002c0002t0030g0212
 6 HG02135.hp2
HG02723.hp1
HG03098.hp2
others(3): Show 
HG02135.hp2
HG02723.hp1
HG03098.hp2
HG03471.hp2
NA18522.hp1
NA19043.hp2
 intron_variant MODIFIER c.250+40661_250+4066
others(6): Show 
c.250+40661_250+40662dupAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835149
chr7:105835149 G
G
 GTTT
GTTT
 9 a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0006g0197
others(6): Show 
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0013g0156
a0001c0001t0015g0109
a0001c0001t0028g0114
a0001c0001t0041g0196
 9 HG01256.hp1
HG02559.hp2
HG02895.hp2
others(6): Show 
HG01256.hp1
HG02559.hp2
HG02895.hp2
HG02896.hp1
HG03041.hp2
HG06807.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.250+40660_250+4066
others(7): Show 
c.250+40660_250+40662dupAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835149
chr7:105835149 G
G
 GTTTT
GTTTT
 20 a0001c0001t0001g0059
a0001c0001t0001g0108
a0001c0001t0001g0181
others(17): Show 
a0001c0001t0001g0059
a0001c0001t0001g0108
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0003g0150
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0044g0110
a0004c0013t0036g0107
 20 HG00280.hp1
HG00642.hp2
HG00738.hp1
others(17): Show 
HG00280.hp1
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01243.hp2
HG01261.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02818.hp1
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
 intron_variant MODIFIER c.250+40659_250+4066
others(8): Show 
c.250+40659_250+40662dupAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835149
chr7:105835149 G
G
 GTTTTT
GTTTTT
 10 a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0006g0168
others(7): Show 
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0006g0168
a0001c0001t0015g0060
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0052g0133
a0001c0001t0057g0229
 10 HG00741.hp1
HG01109.hp2
HG01175.hp1
others(7): Show 
HG00741.hp1
HG01109.hp2
HG01175.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01433.hp1
HG03516.hp2
HG04199.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+40658_250+4066
others(9): Show 
c.250+40658_250+40662dupAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835149
chr7:105835149 G
G
 GTTTTTT
GTTTTTT
 10 a0001c0001t0002g0021
a0001c0001t0003g0235
a0001c0001t0004g0246
others(7): Show 
a0001c0001t0002g0021
a0001c0001t0003g0235
a0001c0001t0004g0246
a0001c0001t0008g0249
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0251
a0001c0001t0021g0184
a0001c0001t0023g0247
a0002c0002t0032g0149
 10 HG01256.hp2
HG01258.hp2
HG01496.hp1
others(7): Show 
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG02135.hp1
HG02818.hp2
NA19003.hp1
NA19074.hp2
NA19085.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+40657_250+4066
others(10): Show 
c.250+40657_250+40662dupAAAAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835149
chr7:105835149 G
G
 T
T
 26 a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
others(23): Show 
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0014g0123
a0001c0001t0019g0063
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0008t0014g0165
a0005c0011t0008g0092
 26 HG00558.hp1
HG00673.hp2
HG01167.hp1
others(23): Show 
HG00558.hp1
HG00673.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG03669.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.250+40663C>A
c.250+40663C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835149
chr7:105835149 GT
GT
 G
G
 72 a0001c0001t0001g0003
a0001c0001t0001g0185
a0001c0001t0001g0201
others(69): Show 
a0001c0001t0001g0003
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0173
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0216
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0131
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0029g0215
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0020g0199
a0006c0010t0031g0204
 72 HG00323.hp1
HG00323.hp2
HG00558.hp2
others(69): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG02015.hp1
HG02027.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA19009.hp2
NA19030.hp1
NA19056.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.250+40662delA
c.250+40662delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835149
chr7:105835149 GTT
GTT
 G
G
 51 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(48): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0007g0202
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 51 HG00280.hp2
HG00642.hp1
HG01069.hp2
others(48): Show 
HG00280.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02132.hp2
HG02155.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp1
HG02735.hp1
HG02895.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19091.hp1
 intron_variant MODIFIER c.250+40661_250+4066
others(6): Show 
c.250+40661_250+40662delAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835149
chr7:105835253 C
C
 G
G
 1 a0001c0001t0005g0182
a0001c0001t0005g0182
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.250+40559G>C
c.250+40559G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835253
chr7:105835261 C
C
 T
T
 1 a0001c0001t0001g0163
a0001c0001t0001g0163
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.250+40551G>A
c.250+40551G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835261
chr7:105835299 C
C
 T
T
 5 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(2): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0053g0031
a0001c0001t0060g0192
 5 HG01074.hp1
HG01243.hp1
HG01884.hp2
others(2): Show 
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.250+40513G>A
c.250+40513G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835299
chr7:105835401 C
C
 A
A
 71 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(68): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 71 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(68): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03098.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19009.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
 intron_variant MODIFIER c.250+40411G>T
c.250+40411G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835401
chr7:105835440 C
C
 CCA
CCA
 199 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(196): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 199 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(196): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+40370_250+4037
others(6): Show 
c.250+40370_250+40371dupTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835440
chr7:105835702 G
G
 A
A
 6 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(3): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0040g0207
a0002c0002t0030g0212
 6 HG02723.hp1
HG03098.hp2
HG03471.hp2
others(3): Show 
HG02723.hp1
HG03098.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
 intron_variant MODIFIER c.250+40110C>T
c.250+40110C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105835702
chr7:105836382 GAA
GAA
 G
G
 13 a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
others(10): Show 
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0173
a0001c0001t0003g0147
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0023g0183
a0001c0001t0049g0148
a0001c0001t0050g0155
 13 HG00558.hp2
HG01099.hp1
HG02027.hp1
others(10): Show 
HG00558.hp2
HG01099.hp1
HG02027.hp1
HG02129.hp1
HG02165.hp2
HG02602.hp2
NA19009.hp2
NA19056.hp1
NA19068.hp2
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
 intron_variant MODIFIER c.250+39428_250+3942
others(6): Show 
c.250+39428_250+39429delTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105836382
chr7:105836450 G
G
 T
T
 1 a0001c0001t0002g0187
a0001c0001t0002g0187
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.250+39362C>A
c.250+39362C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105836450
chr7:105836511 A
A
 C
C
 1 a0001c0001t0008g0015
a0001c0001t0008g0015
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.250+39301T>G
c.250+39301T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105836511
chr7:105836856 G
G
 A
A
 1 a0001c0001t0012g0232
a0001c0001t0012g0232
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.250+38956C>T
c.250+38956C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105836856
chr7:105836950 C
C
 A
A
 3 a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
 3 HG01891.hp1
HG02055.hp2
HG03225.hp2
HG01891.hp1
HG02055.hp2
HG03225.hp2
 intron_variant MODIFIER c.250+38862G>T
c.250+38862G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105836950
chr7:105836996 A
A
 G
G
 13 a0001c0001t0001g0005
a0001c0001t0002g0049
a0001c0001t0002g0053
others(10): Show 
a0001c0001t0001g0005
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0005g0159
a0001c0001t0009g0055
a0001c0001t0062g0007
a0001c0012t0003g0047
 13 HG02071.hp2
NA18957.hp1
NA18971.hp2
others(10): Show 
HG02071.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+38816T>C
c.250+38816T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105836996
chr7:105837180 G
G
 A
A
 35 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(32): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 35 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(32): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+38632C>T
c.250+38632C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105837180
chr7:105837281 A
A
 G
G
 35 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(32): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 35 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(32): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+38531T>C
c.250+38531T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105837281
chr7:105837451 G
G
 GA
GA
 28 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(25): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 28 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(25): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+38360dupT
c.250+38360dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105837451
chr7:105837451 GA
GA
 G
G
 7 a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0015g0060
others(4): Show 
a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0020g0169
a0001c0001t0031g0172
a0004c0013t0036g0107
 7 HG00280.hp1
HG00741.hp1
HG01175.hp1
others(4): Show 
HG00280.hp1
HG00741.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
 intron_variant MODIFIER c.250+38360delT
c.250+38360delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105837451
chr7:105838081 T
T
 G
G
 5 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(2): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0053g0031
a0001c0001t0060g0192
 5 HG01074.hp1
HG01243.hp1
HG01884.hp2
others(2): Show 
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.250+37731A>C
c.250+37731A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105838081
chr7:105838288 G
G
 A
A
 41 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(38): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0214
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
a0002c0002t0030g0212
 41 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(38): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02723.hp1
HG03098.hp2
HG03471.hp2
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+37524C>T
c.250+37524C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105838288
chr7:105838289 G
G
 T
T
 41 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(38): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0214
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
a0002c0002t0030g0212
 41 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(38): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02723.hp1
HG03098.hp2
HG03471.hp2
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+37523C>A
c.250+37523C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105838289
chr7:105838370 A
A
 T
T
 1 a0002c0002t0030g0208
a0002c0002t0030g0208
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.250+37442T>A
c.250+37442T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105838370
chr7:105838530 G
G
 A
A
 56 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(53): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 56 HG00280.hp2
HG00642.hp1
HG00673.hp1
others(53): Show 
HG00280.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp1
HG02735.hp1
HG02738.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19086.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.250+37282C>T
c.250+37282C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105838530
chr7:105838569 A
A
 G
G
 6 a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0216
others(3): Show 
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0022g0224
a0001c0001t0029g0215
a0002c0002t0033g0221
 6 HG02055.hp1
HG02647.hp1
HG02965.hp2
others(3): Show 
HG02055.hp1
HG02647.hp1
HG02965.hp2
HG03516.hp1
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.250+37243T>C
c.250+37243T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105838569
chr7:105838783 C
C
 T
T
 1 a0002c0002t0032g0149
a0002c0002t0032g0149
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.250+37029G>A
c.250+37029G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105838783
chr7:105838885 T
T
 C
C
 1 a0001c0001t0028g0037
a0001c0001t0028g0037
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.250+36927A>G
c.250+36927A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105838885
chr7:105839040 A
A
 G
G
 197 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(194): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 197 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(194): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+36772T>C
c.250+36772T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105839040
chr7:105839117 T
T
 C
C
 9 a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0003g0070
others(6): Show 
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0003g0070
a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0016g0139
a0001c0001t0046g0138
a0002c0002t0059g0200
a0006c0010t0031g0204
 9 HG02451.hp2
HG02559.hp1
HG02622.hp1
others(6): Show 
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02895.hp1
HG03041.hp1
HG03579.hp2
NA18906.hp1
NA20129.hp1
 intron_variant MODIFIER c.250+36695A>G
c.250+36695A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105839117
chr7:105839152 T
T
 C
C
 2 a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0020g0169
a0001c0001t0031g0172
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.250+36660A>G
c.250+36660A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105839152
chr7:105839282 T
T
 C
C
 2 a0001c0001t0009g0097
a0001c0001t0019g0178
a0001c0001t0009g0097
a0001c0001t0019g0178
 2 HG01346.hp1
HG01934.hp1
HG01346.hp1
HG01934.hp1
 intron_variant MODIFIER c.250+36530A>G
c.250+36530A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105839282
chr7:105839337 T
T
 A
A
 29 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(26): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0018g0046
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 29 HG01934.hp2
HG02015.hp2
HG02027.hp2
others(26): Show 
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+36475A>T
c.250+36475A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105839337
chr7:105839349 C
C
 G
G
 70 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(67): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 70 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(67): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03098.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19009.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
 intron_variant MODIFIER c.250+36463G>C
c.250+36463G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105839349
chr7:105839353 G
G
 T
T
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.250+36459C>A
c.250+36459C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105839353
chr7:105839441 G
G
 A
A
 1 a0001c0001t0057g0229
a0001c0001t0057g0229
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.250+36371C>T
c.250+36371C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105839441
chr7:105839629 A
A
 T
T
 1 a0001c0001t0058g0018
a0001c0001t0058g0018
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.250+36183T>A
c.250+36183T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105839629
chr7:105839634 A
A
 C
C
 1 a0001c0001t0004g0198
a0001c0001t0004g0198
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.250+36178T>G
c.250+36178T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105839634
chr7:105839642 C
C
 T
T
 2 a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0008g0073
a0001c0001t0012g0028
 2 HG01168.hp2
HG01169.hp1
HG01168.hp2
HG01169.hp1
 intron_variant MODIFIER c.250+36170G>A
c.250+36170G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105839642
chr7:105839703 C
C
 T
T
 51 a0001c0001t0001g0059
a0001c0001t0001g0102
a0001c0001t0001g0108
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0102
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0218
a0001c0001t0008g0075
a0001c0001t0008g0249
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
a0004c0013t0036g0107
 51 HG00280.hp1
HG00642.hp2
HG00738.hp1
others(48): Show 
HG00280.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01109.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02056.hp1
HG02135.hp1
HG02148.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA18989.hp1
NA19003.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+36109G>A
c.250+36109G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105839703
chr7:105839820 A
A
 C
C
 1 a0001c0001t0012g0122
a0001c0001t0012g0122
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.250+35992T>G
c.250+35992T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105839820
chr7:105839833 T
T
 C
C
 205 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(202): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 205 HG00280.hp1
HG00280.hp2
HG00558.hp1
others(202): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+35979A>G
c.250+35979A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105839833
chr7:105840054 T
T
 A
A
 26 a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
others(23): Show 
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0014g0123
a0001c0001t0019g0063
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0008t0014g0165
a0005c0011t0008g0092
 26 HG00558.hp1
HG00673.hp2
HG01167.hp1
others(23): Show 
HG00558.hp1
HG00673.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG03669.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.250+35758A>T
c.250+35758A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105840054
chr7:105840460 G
G
 A
A
 70 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(67): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 70 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(67): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03098.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19009.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
 intron_variant MODIFIER c.250+35352C>T
c.250+35352C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105840460
chr7:105840525 C
C
 T
T
 3 a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
 3 HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
 intron_variant MODIFIER c.250+35287G>A
c.250+35287G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105840525
chr7:105840662 T
T
 C
C
 26 a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
others(23): Show 
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0014g0123
a0001c0001t0019g0063
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0008t0014g0165
a0005c0011t0008g0092
 26 HG00558.hp1
HG00673.hp2
HG01167.hp1
others(23): Show 
HG00558.hp1
HG00673.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG03669.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.250+35150A>G
c.250+35150A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105840662
chr7:105840693 G
G
 A
A
 2 a0001c0001t0018g0058
a0001c0001t0028g0114
a0001c0001t0018g0058
a0001c0001t0028g0114
 2 HG02572.hp2
NA19043.hp1
HG02572.hp2
NA19043.hp1
 intron_variant MODIFIER c.250+35119C>T
c.250+35119C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105840693
chr7:105840826 G
G
 A
A
 56 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(53): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 56 HG00280.hp2
HG00642.hp1
HG00673.hp1
others(53): Show 
HG00280.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp1
HG02735.hp1
HG02738.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19086.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.250+34986C>T
c.250+34986C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105840826
chr7:105840913 C
C
 A
A
 1 a0001c0001t0001g0119
a0001c0001t0001g0119
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.250+34899G>T
c.250+34899G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105840913
chr7:105841109 G
G
 T
T
 3 a0001c0001t0001g0102
a0001c0001t0013g0251
a0001c0001t0024g0250
a0001c0001t0001g0102
a0001c0001t0013g0251
a0001c0001t0024g0250
 3 HG02056.hp1
NA18989.hp1
NA20300.hp1
HG02056.hp1
NA18989.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+34703C>A
c.250+34703C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105841109
chr7:105841405 G
G
 A
A
 3 a0001c0001t0001g0185
a0001c0001t0002g0153
a0001c0001t0011g0152
a0001c0001t0001g0185
a0001c0001t0002g0153
a0001c0001t0011g0152
 3 HG00558.hp2
NA19009.hp2
NA19056.hp1
HG00558.hp2
NA19009.hp2
NA19056.hp1
 intron_variant MODIFIER c.250+34407C>T
c.250+34407C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105841405
chr7:105842155 G
G
 A
A
 2 a0001c0001t0006g0197
a0001c0001t0041g0196
a0001c0001t0006g0197
a0001c0001t0041g0196
 2 HG02559.hp2
NA19030.hp2
HG02559.hp2
NA19030.hp2
 intron_variant MODIFIER c.250+33657C>T
c.250+33657C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105842155
chr7:105842169 T
T
 C
C
 43 a0001c0001t0001g0003
a0001c0001t0001g0201
a0001c0001t0001g0205
others(40): Show 
a0001c0001t0001g0003
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0225
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0018g0131
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0226
a0002c0002t0059g0200
a0006c0010t0031g0204
 43 HG00323.hp1
HG00323.hp2
HG00735.hp2
others(40): Show 
HG00323.hp1
HG00323.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01257.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG02015.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02895.hp1
HG03041.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.250+33643A>G
c.250+33643A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105842169
chr7:105842196 G
G
 GT
GT
 28 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(25): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 28 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(25): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+33615dupA
c.250+33615dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105842196
chr7:105842196 GT
GT
 G
G
 168 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(165): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0106
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0006c0010t0031g0204
a0007c0009t0007g0096
 168 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(165): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.250+33615delA
c.250+33615delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105842196
chr7:105842240 C
C
 A
A
 7 a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0015g0060
others(4): Show 
a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0020g0169
a0001c0001t0031g0172
a0004c0013t0036g0107
 7 HG00280.hp1
HG00741.hp1
HG01175.hp1
others(4): Show 
HG00280.hp1
HG00741.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
 intron_variant MODIFIER c.250+33572G>T
c.250+33572G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105842240
chr7:105842358 C
C
 T
T
 2 a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0012g0244
a0001c0001t0013g0243
 2 HG01243.hp2
HG01515.hp1
HG01243.hp2
HG01515.hp1
 intron_variant MODIFIER c.250+33454G>A
c.250+33454G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105842358
chr7:105842395 C
C
 T
T
 1 a0001c0001t0002g0239
a0001c0001t0002g0239
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.250+33417G>A
c.250+33417G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105842395
chr7:105842464 A
A
 G
G
 8 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
others(5): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 8 HG02056.hp1
HG02135.hp1
NA18989.hp1
others(5): Show 
HG02056.hp1
HG02135.hp1
NA18989.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+33348T>C
c.250+33348T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105842464
chr7:105842593 T
T
 C
C
 41 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(38): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0214
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
a0002c0002t0030g0212
 41 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(38): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02723.hp1
HG03098.hp2
HG03471.hp2
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+33219A>G
c.250+33219A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105842593
chr7:105842632 C
C
 T
T
 45 a0001c0001t0001g0003
a0001c0001t0001g0201
a0001c0001t0001g0205
others(42): Show 
a0001c0001t0001g0003
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0225
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0118
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0018g0131
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0226
a0002c0002t0059g0200
a0006c0010t0031g0204
 45 HG00323.hp1
HG00323.hp2
HG00735.hp2
others(42): Show 
HG00323.hp1
HG00323.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01257.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG02015.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02895.hp1
HG03041.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.250+33180G>A
c.250+33180G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105842632
chr7:105842646 T
T
 C
C
 3 a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
 3 HG01891.hp2
HG02630.hp2
HG02896.hp2
HG01891.hp2
HG02630.hp2
HG02896.hp2
 intron_variant MODIFIER c.250+33166A>G
c.250+33166A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105842646
chr7:105842748 A
A
 G
G
 3 a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
 3 HG01891.hp1
HG02055.hp2
HG03225.hp2
HG01891.hp1
HG02055.hp2
HG03225.hp2
 intron_variant MODIFIER c.250+33064T>C
c.250+33064T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105842748
chr7:105842750 C
C
 A
A
 1 a0001c0001t0005g0025
a0001c0001t0005g0025
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.250+33062G>T
c.250+33062G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105842750
chr7:105842883 A
A
 G
G
 78 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(75): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0005g0206
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0002c0002t0033g0221
a0003c0003t0005g0079
 78 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(75): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02523.hp1
HG02602.hp2
HG02647.hp1
HG02735.hp1
HG02738.hp1
HG02965.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03490.hp2
HG03516.hp1
HG03540.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19009.hp2
NA19030.hp1
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
 intron_variant MODIFIER c.250+32929T>C
c.250+32929T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105842883
chr7:105843032 C
C
 T
T
 69 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(66): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 69 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(66): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19009.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
 intron_variant MODIFIER c.250+32780G>A
c.250+32780G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105843032
chr7:105843329 G
G
 A
A
 24 a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
others(21): Show 
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0019g0063
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0008t0014g0165
a0005c0011t0008g0092
 24 HG00558.hp1
HG00673.hp2
HG01167.hp1
others(21): Show 
HG00558.hp1
HG00673.hp2
HG01167.hp1
HG01168.hp1
HG01261.hp2
HG01358.hp2
HG01978.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG03669.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.250+32483C>T
c.250+32483C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105843329
chr7:105843478 C
C
 T
T
 1 a0002c0002t0022g0220
a0002c0002t0022g0220
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.250+32334G>A
c.250+32334G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105843478
chr7:105844006 T
T
 C
C
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.250+31806A>G
c.250+31806A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105844006
chr7:105844046 C
C
 T
T
 3 a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
 3 HG01891.hp1
HG02055.hp2
HG03225.hp2
HG01891.hp1
HG02055.hp2
HG03225.hp2
 intron_variant MODIFIER c.250+31766G>A
c.250+31766G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105844046
chr7:105844366 A
A
 G
G
 4 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(1): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0060g0192
 4 HG01074.hp1
HG01243.hp1
HG02145.hp1
others(1): Show 
HG01074.hp1
HG01243.hp1
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.250+31446T>C
c.250+31446T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105844366
chr7:105844608 A
A
 G
G
 1 a0001c0001t0002g0188
a0001c0001t0002g0188
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.250+31204T>C
c.250+31204T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105844608
chr7:105844791 C
C
 G
G
 1 a0001c0001t0039g0180
a0001c0001t0039g0180
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.250+31021G>C
c.250+31021G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105844791
chr7:105844834 A
A
 G
G
 75 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(72): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0214
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0013g0251
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
 75 HG00558.hp1
HG00673.hp2
HG00741.hp2
others(72): Show 
HG00558.hp1
HG00673.hp2
HG00741.hp2
HG01167.hp1
HG01168.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02723.hp1
HG02896.hp1
HG03098.hp2
HG03471.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+30978T>C
c.250+30978T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105844834
chr7:105845014 G
G
 A
A
 42 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(39): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
a0002c0002t0030g0212
 42 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(39): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02723.hp1
HG02896.hp1
HG03098.hp2
HG03471.hp2
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+30798C>T
c.250+30798C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845014
chr7:105845148 T
T
 C
C
 8 a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0016g0069
others(5): Show 
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0052g0133
 8 HG02280.hp2
HG02572.hp1
HG02630.hp1
others(5): Show 
HG02280.hp2
HG02572.hp1
HG02630.hp1
HG02818.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp1
HG03516.hp2
 intron_variant MODIFIER c.250+30664A>G
c.250+30664A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845148
chr7:105845171 T
T
 C
C
 75 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(72): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0214
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0013g0251
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
 75 HG00558.hp1
HG00673.hp2
HG00741.hp2
others(72): Show 
HG00558.hp1
HG00673.hp2
HG00741.hp2
HG01167.hp1
HG01168.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02723.hp1
HG02896.hp1
HG03098.hp2
HG03471.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+30641A>G
c.250+30641A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845171
chr7:105845202 C
C
 A
A
 12 a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
others(9): Show 
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0005g0027
a0001c0001t0007g0057
a0001c0001t0009g0103
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0018g0046
a0001c0001t0043g0105
a0001c0001t0064g0098
 12 HG01934.hp2
HG02015.hp2
HG02027.hp2
others(9): Show 
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02071.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG03688.hp1
NA18747.hp2
NA18943.hp2
NA18945.hp2
NA19005.hp1
 intron_variant MODIFIER c.250+30610G>T
c.250+30610G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845202
chr7:105845204 C
C
 CA
CA
 13 a0001c0001t0001g0225
a0001c0001t0005g0206
a0001c0001t0006g0117
others(10): Show 
a0001c0001t0001g0225
a0001c0001t0005g0206
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0217
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0029g0215
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0053g0031
a0002c0002t0033g0221
a0003c0003t0020g0199
 13 HG01358.hp1
HG01884.hp2
HG02027.hp1
others(10): Show 
HG01358.hp1
HG01884.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02965.hp1
HG02965.hp2
HG03540.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.250+30607dupT
c.250+30607dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845204
chr7:105845204 C
C
 CAA
CAA
 44 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0185
others(41): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0245
a0001c0001t0003g0071
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0004g0135
a0001c0001t0004g0198
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0007g0223
a0001c0001t0008g0045
a0001c0001t0008g0075
a0001c0001t0008g0216
a0001c0001t0010g0228
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0018g0131
a0001c0001t0019g0230
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0226
 44 HG00323.hp1
HG00323.hp2
HG00642.hp2
others(41): Show 
HG00323.hp1
HG00323.hp2
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01109.hp2
HG01243.hp2
HG01257.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01952.hp2
HG02015.hp1
HG02148.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp2
HG02572.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG04199.hp1
NA18747.hp1
NA19009.hp2
NA19079.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.250+30606_250+3060
others(6): Show 
c.250+30606_250+30607dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845204
chr7:105845204 C
C
 CAAA
CAAA
 24 a0001c0001t0001g0003
a0001c0001t0001g0201
a0001c0001t0002g0239
others(21): Show 
a0001c0001t0001g0003
a0001c0001t0001g0201
a0001c0001t0002g0239
a0001c0001t0003g0118
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0128
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0006g0067
a0001c0001t0010g0111
a0001c0001t0012g0064
a0001c0001t0013g0129
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0016g0136
a0001c0001t0017g0113
a0001c0001t0021g0227
a0001c0001t0029g0072
a0001c0001t0046g0138
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
a0002c0002t0059g0200
 24 HG00738.hp2
HG01069.hp1
HG01169.hp2
others(21): Show 
HG00738.hp2
HG01069.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG03041.hp1
HG03209.hp2
HG03516.hp2
HG03579.hp1
HG03669.hp2
NA18906.hp2
NA20129.hp1
 intron_variant MODIFIER c.250+30605_250+3060
others(7): Show 
c.250+30605_250+30607dupTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845204
chr7:105845204 C
C
 CAAAA
CAAAA
 7 a0001c0001t0003g0070
a0001c0001t0007g0202
a0001c0001t0014g0123
others(4): Show 
a0001c0001t0003g0070
a0001c0001t0007g0202
a0001c0001t0014g0123
a0001c0001t0016g0139
a0001c0001t0020g0120
a0001c0001t0035g0151
a0006c0010t0031g0204
 7 HG01167.hp2
HG01192.hp1
HG02559.hp1
others(4): Show 
HG01167.hp2
HG01192.hp1
HG02559.hp1
HG02895.hp1
HG03579.hp2
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+30604_250+3060
others(8): Show 
c.250+30604_250+30607dupTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845204
chr7:105845204 CA
CA
 C
C
 51 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(48): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0108
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0168
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0109
a0001c0001t0018g0094
a0001c0001t0020g0169
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0045g0190
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
a0004c0013t0036g0107
 51 HG00280.hp1
HG00280.hp2
HG00642.hp1
others(48): Show 
HG00280.hp1
HG00280.hp2
HG00642.hp1
HG00673.hp1
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02132.hp2
HG02155.hp1
HG02165.hp1
HG02300.hp2
HG02735.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18954.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19054.hp1
NA19060.hp2
NA19067.hp2
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.250+30607delT
c.250+30607delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845204
chr7:105845204 CAAAAA
CAAAAA
 C
C
 11 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0002g0231
others(8): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0002g0231
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0016g0061
a0001c0001t0024g0250
a0001c0001t0062g0007
 11 HG01433.hp2
HG01952.hp1
HG02056.hp1
others(8): Show 
HG01433.hp2
HG01952.hp1
HG02056.hp1
NA18989.hp1
NA19000.hp2
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+30603_250+3060
others(9): Show 
c.250+30603_250+30607delTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845204
chr7:105845204 CAAAAAA
CAAAAAA
 C
C
 33 a0001c0001t0001g0005
a0001c0001t0001g0119
a0001c0001t0002g0048
others(30): Show 
a0001c0001t0001g0005
a0001c0001t0001g0119
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0004g0127
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0025g0104
a0001c0001t0047g0121
a0001c0001t0064g0098
a0001c0012t0003g0047
 33 HG00741.hp2
HG01167.hp1
HG01168.hp1
others(30): Show 
HG00741.hp2
HG01167.hp1
HG01168.hp1
HG01261.hp2
HG01358.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02135.hp2
HG03669.hp1
HG03942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+30602_250+3060
others(10): Show 
c.250+30602_250+30607delTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845204
chr7:105845204 CAAAAAAA
CAAAAAAA
 C
C
 7 a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
others(4): Show 
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0043g0105
a0001c0001t0054g0087
 7 HG01978.hp2
HG02083.hp2
HG02132.hp1
others(4): Show 
HG01978.hp2
HG02083.hp2
HG02132.hp1
HG03688.hp1
NA18747.hp2
NA18995.hp2
NA19000.hp1
 intron_variant MODIFIER c.250+30601_250+3060
others(11): Show 
c.250+30601_250+30607delTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845204
chr7:105845204 CAAAAAAA
others(1): Show 
CAAAAAAAA
 C
C
 23 a0001c0001t0001g0088
a0001c0001t0001g0145
a0001c0001t0001g0163
others(20): Show 
a0001c0001t0001g0088
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0214
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0171
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0010g0091
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0008t0014g0165
a0002c0002t0030g0212
a0005c0011t0008g0092
 23 HG00558.hp1
HG00673.hp2
HG02083.hp1
others(20): Show 
HG00558.hp1
HG00673.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02723.hp1
HG02896.hp1
HG03098.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA19003.hp2
NA19010.hp1
NA19043.hp2
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.250+30600_250+3060
others(12): Show 
c.250+30600_250+30607delTTTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845204
chr7:105845246 A
A
 G
G
 6 a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0216
others(3): Show 
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0022g0224
a0001c0001t0029g0215
a0002c0002t0033g0221
 6 HG02055.hp1
HG02647.hp1
HG02965.hp2
others(3): Show 
HG02055.hp1
HG02647.hp1
HG02965.hp2
HG03516.hp1
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.250+30566T>C
c.250+30566T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845246
chr7:105845255 C
C
 A
A
 1 a0001c0001t0001g0009
a0001c0001t0001g0009
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.250+30557G>T
c.250+30557G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845255
chr7:105845440 A
A
 C
C
 70 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(67): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 70 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(67): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03098.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19009.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
 intron_variant MODIFIER c.250+30372T>G
c.250+30372T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845440
chr7:105845486 A
A
 T
T
 28 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(25): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 28 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(25): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+30326T>A
c.250+30326T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845486
chr7:105845487 T
T
 TTATCTTT
others(12): Show 
TTATCTTTGTAGATCTGTTA
 28 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(25): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 28 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(25): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+30324_250+3032
others(23): Show 
c.250+30324_250+30325insTAACAGATCTACAAAGATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845487
chr7:105845490 A
A
 T
T
 28 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(25): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 28 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(25): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+30322T>A
c.250+30322T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845490
chr7:105845492 C
C
 CA
CA
 28 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(25): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 28 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(25): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+30319_250+3032
others(5): Show 
c.250+30319_250+30320insT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845492
chr7:105845503 T
T
 A
A
 77 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(74): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0214
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
 77 HG00558.hp1
HG00673.hp2
HG00741.hp2
others(74): Show 
HG00558.hp1
HG00673.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02723.hp1
HG02896.hp1
HG03098.hp2
HG03471.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+30309A>T
c.250+30309A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845503
chr7:105845512 A
A
 T
T
 77 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(74): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0214
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
 77 HG00558.hp1
HG00673.hp2
HG00741.hp2
others(74): Show 
HG00558.hp1
HG00673.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02723.hp1
HG02896.hp1
HG03098.hp2
HG03471.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+30300T>A
c.250+30300T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845512
chr7:105845515 C
C
 CT
CT
 19 a0001c0001t0001g0108
a0001c0001t0004g0124
a0001c0001t0004g0135
others(16): Show 
a0001c0001t0001g0108
a0001c0001t0004g0124
a0001c0001t0004g0135
a0001c0001t0006g0168
a0001c0001t0007g0218
a0001c0001t0013g0156
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0058
a0001c0001t0020g0169
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0053g0031
a0001c0001t0060g0192
a0002c0002t0030g0208
a0004c0013t0036g0107
 19 HG00280.hp1
HG00741.hp1
HG01074.hp1
others(16): Show 
HG00280.hp1
HG00741.hp1
HG01074.hp1
HG01175.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01884.hp2
HG02145.hp1
HG02572.hp2
HG02895.hp2
HG02896.hp2
HG03041.hp2
HG03209.hp1
HG03239.hp1
NA19043.hp1
NA20300.hp2
 intron_variant MODIFIER c.250+30296dupA
c.250+30296dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845515
chr7:105845515 C
C
 CTT
CTT
 32 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(29): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0006g0197
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
a0007c0009t0007g0096
 32 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(29): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp2
HG01952.hp2
HG02148.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19030.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+30295_250+3029
others(6): Show 
c.250+30295_250+30296dupAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845515
chr7:105845515 CT
CT
 C
C
 14 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0088
others(11): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0002g0049
a0001c0001t0003g0171
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0010g0093
a0001c0001t0022g0224
a0001c0001t0027g0008
a0001c0001t0029g0215
a0002c0002t0033g0221
a0005c0011t0008g0092
 14 HG01517.hp1
HG01978.hp2
HG02055.hp1
others(11): Show 
HG01517.hp1
HG01978.hp2
HG02055.hp1
HG02148.hp1
HG02300.hp1
HG02647.hp1
HG02965.hp2
HG03139.hp2
HG03516.hp1
HG03540.hp2
NA18957.hp2
NA18970.hp2
NA19030.hp1
NA19079.hp2
 intron_variant MODIFIER c.250+30296delA
c.250+30296delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845515
chr7:105845545 A
A
 C
C
 3 a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
 3 HG01891.hp2
HG02630.hp2
HG02896.hp2
HG01891.hp2
HG02630.hp2
HG02896.hp2
 intron_variant MODIFIER c.250+30267T>G
c.250+30267T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845545
chr7:105845562 ATATGGAA
others(2): Show 
ATATGGAAAT
 A
A
 3 a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
 3 HG01891.hp2
HG02630.hp2
HG02896.hp2
HG01891.hp2
HG02630.hp2
HG02896.hp2
 intron_variant MODIFIER c.250+30241_250+3024
others(13): Show 
c.250+30241_250+30249delATTTCCATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845562
chr7:105845853 A
A
 G
G
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+29959T>C
c.250+29959T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845853
chr7:105845865 C
C
 A
A
 6 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(3): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0040g0207
a0002c0002t0030g0212
 6 HG02723.hp1
HG03098.hp2
HG03471.hp2
others(3): Show 
HG02723.hp1
HG03098.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
 intron_variant MODIFIER c.250+29947G>T
c.250+29947G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105845865
chr7:105846158 T
T
 C
C
 1 a0001c0001t0007g0218
a0001c0001t0007g0218
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.250+29654A>G
c.250+29654A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105846158
chr7:105846226 C
C
 T
T
 5 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(2): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0053g0031
a0001c0001t0060g0192
 5 HG01074.hp1
HG01243.hp1
HG01884.hp2
others(2): Show 
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.250+29586G>A
c.250+29586G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105846226
chr7:105846315 A
A
 C
C
 12 a0001c0001t0004g0137
a0001c0001t0010g0111
a0001c0001t0010g0228
others(9): Show 
a0001c0001t0004g0137
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0012g0052
a0001c0001t0016g0136
a0001c0001t0017g0113
a0001c0001t0020g0120
a0001c0001t0021g0227
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0006t0001g0112
a0002c0002t0032g0226
 12 HG00735.hp2
HG00738.hp2
HG01074.hp2
others(9): Show 
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01192.hp1
HG01884.hp1
HG02523.hp2
HG02622.hp2
HG03209.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.250+29497T>G
c.250+29497T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105846315
chr7:105846342 G
G
 C
C
 77 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(74): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0214
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
 77 HG00558.hp1
HG00673.hp2
HG00741.hp2
others(74): Show 
HG00558.hp1
HG00673.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02723.hp1
HG02896.hp1
HG03098.hp2
HG03471.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+29470C>G
c.250+29470C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105846342
chr7:105846357 T
T
 C
C
 3 a0001c0001t0001g0185
a0001c0001t0002g0153
a0001c0001t0011g0152
a0001c0001t0001g0185
a0001c0001t0002g0153
a0001c0001t0011g0152
 3 HG00558.hp2
NA19009.hp2
NA19056.hp1
HG00558.hp2
NA19009.hp2
NA19056.hp1
 intron_variant MODIFIER c.250+29455A>G
c.250+29455A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105846357
chr7:105846503 C
C
 T
T
 6 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(3): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0040g0207
a0002c0002t0030g0212
 6 HG02723.hp1
HG03098.hp2
HG03471.hp2
others(3): Show 
HG02723.hp1
HG03098.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
 intron_variant MODIFIER c.250+29309G>A
c.250+29309G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105846503
chr7:105846507 C
C
 T
T
 1 a0001c0001t0022g0224
a0001c0001t0022g0224
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.250+29305G>A
c.250+29305G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105846507
chr7:105846889 C
C
 T
T
 2 a0001c0001t0006g0197
a0001c0001t0041g0196
a0001c0001t0006g0197
a0001c0001t0041g0196
 2 HG02559.hp2
NA19030.hp2
HG02559.hp2
NA19030.hp2
 intron_variant MODIFIER c.250+28923G>A
c.250+28923G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105846889
chr7:105846890 G
G
 A
A
 1 a0001c0001t0019g0062
a0001c0001t0019g0062
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.250+28922C>T
c.250+28922C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105846890
chr7:105847139 A
A
 C
C
 2 a0001c0001t0006g0197
a0001c0001t0041g0196
a0001c0001t0006g0197
a0001c0001t0041g0196
 2 HG02559.hp2
NA19030.hp2
HG02559.hp2
NA19030.hp2
 intron_variant MODIFIER c.250+28673T>G
c.250+28673T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105847139
chr7:105847209 A
A
 C
C
 78 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(75): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
 78 HG00558.hp1
HG00673.hp2
HG00741.hp2
others(75): Show 
HG00558.hp1
HG00673.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02723.hp1
HG02896.hp1
HG03098.hp2
HG03471.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+28603T>G
c.250+28603T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105847209
chr7:105847302 G
G
 A
A
 4 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(1): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0060g0192
 4 HG01074.hp1
HG01243.hp1
HG02145.hp1
others(1): Show 
HG01074.hp1
HG01243.hp1
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.250+28510C>T
c.250+28510C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105847302
chr7:105847416 A
A
 C
C
 232 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(229): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
 232 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(229): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+28396T>G
c.250+28396T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105847416
chr7:105847505 G
G
 A
A
 56 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(53): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 56 HG00280.hp2
HG00642.hp1
HG00673.hp1
others(53): Show 
HG00280.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp1
HG02735.hp1
HG02738.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19086.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.250+28307C>T
c.250+28307C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105847505
chr7:105847521 A
A
 C
C
 1 a0001c0001t0053g0031
a0001c0001t0053g0031
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.250+28291T>G
c.250+28291T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105847521
chr7:105847727 G
G
 A
A
 9 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
others(6): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 9 HG02056.hp1
HG02135.hp1
NA18989.hp1
others(6): Show 
HG02056.hp1
HG02135.hp1
NA18989.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+28085C>T
c.250+28085C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105847727
chr7:105847884 C
C
 T
T
 28 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(25): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 28 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(25): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+27928G>A
c.250+27928G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105847884
chr7:105848033 T
T
 C
C
 8 a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0007g0218
others(5): Show 
a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0007g0218
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0020g0169
a0001c0001t0031g0172
a0004c0013t0036g0107
 8 HG00280.hp1
HG00741.hp1
HG01175.hp1
others(5): Show 
HG00280.hp1
HG00741.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG03041.hp2
 intron_variant MODIFIER c.250+27779A>G
c.250+27779A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105848033
chr7:105848048 G
G
 C
C
 56 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(53): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 56 HG00280.hp2
HG00642.hp1
HG00673.hp1
others(53): Show 
HG00280.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02300.hp2
HG02523.hp1
HG02735.hp1
HG02738.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19086.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.250+27764C>G
c.250+27764C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105848048
chr7:105848080 T
T
 C
C
 70 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(67): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0147
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0007t0038g0158
a0003c0003t0005g0079
 70 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(67): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02129.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02523.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG03098.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18994.hp2
NA19009.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
 intron_variant MODIFIER c.250+27732A>G
c.250+27732A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105848080
chr7:105848178 C
C
 T
T
 1 a0001c0001t0006g0168
a0001c0001t0006g0168
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.250+27634G>A
c.250+27634G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105848178
chr7:105848522 A
A
 AT
AT
 28 a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
others(25): Show 
a0001c0001t0001g0059
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 28 HG00642.hp2
HG00738.hp1
HG01069.hp1
others(25): Show 
HG00642.hp2
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+27289dupA
c.250+27289dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105848522
chr7:105848793 T
T
 C
C
 1 a0001c0001t0002g0173
a0001c0001t0002g0173
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.250+27019A>G
c.250+27019A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105848793
chr7:105848810 G
G
 C
C
 9 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
others(6): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 9 HG02056.hp1
HG02135.hp1
NA18989.hp1
others(6): Show 
HG02056.hp1
HG02135.hp1
NA18989.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+27002C>G
c.250+27002C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105848810
chr7:105848816 G
G
 T
T
 3 a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
 3 HG01891.hp2
HG02630.hp2
HG02896.hp2
HG01891.hp2
HG02630.hp2
HG02896.hp2
 intron_variant MODIFIER c.250+26996C>A
c.250+26996C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105848816
chr7:105849175 G
G
 T
T
 1 a0001c0001t0002g0186
a0001c0001t0002g0186
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.250+26637C>A
c.250+26637C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105849175
chr7:105849346 T
T
 C
C
 1 a0002c0002t0032g0226
a0002c0002t0032g0226
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.250+26466A>G
c.250+26466A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105849346
chr7:105849605 A
A
 G
G
 42 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(39): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
a0002c0002t0030g0212
 42 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(39): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02723.hp1
HG02896.hp1
HG03098.hp2
HG03471.hp2
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+26207T>C
c.250+26207T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105849605
chr7:105849926 T
T
 C
C
 1 a0001c0001t0043g0105
a0001c0001t0043g0105
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.250+25886A>G
c.250+25886A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105849926
chr7:105849936 T
T
 C
C
 1 a0001c0001t0025g0104
a0001c0001t0025g0104
 1 HG01516.hp1
HG01516.hp1
 intron_variant MODIFIER c.250+25876A>G
c.250+25876A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105849936
chr7:105850130 G
G
 A
A
 15 a0001c0001t0001g0059
a0001c0001t0002g0239
a0001c0001t0002g0245
others(12): Show 
a0001c0001t0001g0059
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0019g0230
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0057g0229
 15 HG00642.hp2
HG00738.hp1
HG01109.hp2
others(12): Show 
HG00642.hp2
HG00738.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG03490.hp1
HG03491.hp1
HG04199.hp1
 intron_variant MODIFIER c.250+25682C>T
c.250+25682C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105850130
chr7:105850313 C
C
 T
T
 9 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
others(6): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 9 HG02056.hp1
HG02135.hp1
NA18989.hp1
others(6): Show 
HG02056.hp1
HG02135.hp1
NA18989.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+25499G>A
c.250+25499G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105850313
chr7:105850387 T
T
 C
C
 1 a0001c0004t0010g0154
a0001c0004t0010g0154
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.250+25425A>G
c.250+25425A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105850387
chr7:105850391 A
A
 G
G
 82 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(79): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0047g0121
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
 82 HG00558.hp1
HG00673.hp2
HG00741.hp2
others(79): Show 
HG00558.hp1
HG00673.hp2
HG00741.hp2
HG01074.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01243.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp1
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02723.hp1
HG03098.hp2
HG03209.hp1
HG03471.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+25421T>C
c.250+25421T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105850391
chr7:105850429 C
C
 T
T
 12 a0001c0001t0001g0185
a0001c0001t0002g0142
a0001c0001t0002g0153
others(9): Show 
a0001c0001t0001g0185
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0173
a0001c0001t0003g0147
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0023g0183
a0001c0001t0049g0148
a0001c0001t0050g0155
 12 HG00558.hp2
HG01099.hp1
HG02027.hp1
others(9): Show 
HG00558.hp2
HG01099.hp1
HG02027.hp1
HG02165.hp2
HG02602.hp2
NA19009.hp2
NA19056.hp1
NA19068.hp2
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
 intron_variant MODIFIER c.250+25383G>A
c.250+25383G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105850429
chr7:105850430 GCATTTCC
others(7): Show 
GCATTTCCCATGGGC
 G
G
 1 a0001c0001t0017g0213
a0001c0001t0017g0213
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.250+25368_250+2538
others(18): Show 
c.250+25368_250+25381delGCCCATGGGAAATG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105850430
chr7:105850484 C
C
 T
T
 2 a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0201
a0001c0001t0001g0205
 2 HG02451.hp2
HG02647.hp2
HG02451.hp2
HG02647.hp2
 intron_variant MODIFIER c.250+25328G>A
c.250+25328G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105850484
chr7:105850558 T
T
 C
C
 2 a0001c0001t0006g0197
a0001c0001t0041g0196
a0001c0001t0006g0197
a0001c0001t0041g0196
 2 HG02559.hp2
NA19030.hp2
HG02559.hp2
NA19030.hp2
 intron_variant MODIFIER c.250+25254A>G
c.250+25254A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105850558
chr7:105850836 C
C
 T
T
 2 a0001c0001t0003g0150
a0001c0001t0035g0151
a0001c0001t0003g0150
a0001c0001t0035g0151
 2 HG01069.hp1
homoSapiens_chm13v2.hp1
HG01069.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+24976G>A
c.250+24976G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105850836
chr7:105850958 C
C
 T
T
 3 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0014g0038
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0014g0038
 3 HG00642.hp1
HG01081.hp1
HG03831.hp2
HG00642.hp1
HG01081.hp1
HG03831.hp2
 intron_variant MODIFIER c.250+24854G>A
c.250+24854G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105850958
chr7:105851124 C
C
 G
G
 49 a0001c0001t0001g0003
a0001c0001t0001g0201
a0001c0001t0001g0205
others(46): Show 
a0001c0001t0001g0003
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0225
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0018g0131
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0037g0065
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0006c0010t0031g0204
 49 HG00323.hp1
HG00323.hp2
HG00735.hp2
others(46): Show 
HG00323.hp1
HG00323.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01257.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG02015.hp1
HG02055.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02895.hp1
HG02965.hp2
HG03041.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.250+24688G>C
c.250+24688G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105851124
chr7:105851173 G
G
 T
T
 239 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(236): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 239 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(236): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+24639C>A
c.250+24639C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105851173
chr7:105851226 A
A
 G
G
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.250+24586T>C
c.250+24586T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105851226
chr7:105851329 C
C
 T
T
 76 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(73): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0214
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
 76 HG00558.hp1
HG00673.hp2
HG00741.hp2
others(73): Show 
HG00558.hp1
HG00673.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02723.hp1
HG03098.hp2
HG03471.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+24483G>A
c.250+24483G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105851329
chr7:105851362 G
G
 A
A
 3 a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
 3 HG01891.hp1
HG02055.hp2
HG03225.hp2
HG01891.hp1
HG02055.hp2
HG03225.hp2
 intron_variant MODIFIER c.250+24450C>T
c.250+24450C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105851362
chr7:105851445 A
A
 AGTCT
AGTCT
 247 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(244): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 247 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(244): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+24363_250+2436
others(8): Show 
c.250+24363_250+24366dupAGAC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105851445
chr7:105851632 C
C
 T
T
 3 a0001c0001t0001g0003
a0001c0001t0013g0129
a0001c0001t0014g0237
a0001c0001t0001g0003
a0001c0001t0013g0129
a0001c0001t0014g0237
 3 HG00323.hp2
HG02735.hp2
HG03669.hp2
HG00323.hp2
HG02735.hp2
HG03669.hp2
 intron_variant MODIFIER c.250+24180G>A
c.250+24180G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105851632
chr7:105851780 A
A
 G
G
 78 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(75): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0160
a0001c0001t0002g0167
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0030g0212
a0005c0011t0008g0092
 78 HG00558.hp1
HG00673.hp2
HG00741.hp2
others(75): Show 
HG00558.hp1
HG00673.hp2
HG00741.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01978.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp2
HG02300.hp1
HG02723.hp1
HG02896.hp1
HG03098.hp2
HG03471.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+24032T>C
c.250+24032T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105851780
chr7:105851792 A
A
 G
G
 1 a0001c0001t0021g0184
a0001c0001t0021g0184
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.250+24020T>C
c.250+24020T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105851792
chr7:105851876 C
C
 T
T
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.250+23936G>A
c.250+23936G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105851876
chr7:105852097 C
C
 T
T
 1 a0001c0001t0006g0117
a0001c0001t0006g0117
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.250+23715G>A
c.250+23715G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105852097
chr7:105852118 C
C
 T
T
 3 a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
 3 HG01891.hp2
HG02630.hp2
HG02896.hp2
HG01891.hp2
HG02630.hp2
HG02896.hp2
 intron_variant MODIFIER c.250+23694G>A
c.250+23694G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105852118
chr7:105852139 G
G
 C
C
 21 a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
others(18): Show 
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0002g0162
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0006g0022
a0001c0001t0008g0175
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0014g0166
a0001c0001t0015g0019
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0028g0037
a0001c0004t0010g0154
a0001c0007t0038g0158
 21 HG01192.hp2
HG01346.hp1
HG01934.hp1
others(18): Show 
HG01192.hp2
HG01346.hp1
HG01934.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp2
HG02735.hp1
HG02738.hp1
HG03490.hp2
HG03688.hp2
HG03942.hp1
NA18948.hp1
NA18954.hp2
NA18957.hp2
NA18971.hp1
NA19054.hp1
NA19056.hp2
NA19066.hp1
NA19067.hp2
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.250+23673C>G
c.250+23673C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105852139
chr7:105852164 C
C
 T
T
 27 a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
others(24): Show 
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0057g0229
a0002c0002t0032g0149
 27 HG00738.hp1
HG01069.hp1
HG01109.hp2
others(24): Show 
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG02280.hp2
HG02572.hp1
HG02630.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03490.hp1
HG03491.hp1
HG03516.hp2
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+23648G>A
c.250+23648G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105852164
chr7:105852217 G
G
 A
A
 1 a0001c0001t0009g0013
a0001c0001t0009g0013
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.250+23595C>T
c.250+23595C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105852217
chr7:105852476 T
T
 C
C
 2 a0001c0001t0006g0197
a0001c0001t0041g0196
a0001c0001t0006g0197
a0001c0001t0041g0196
 2 HG02559.hp2
NA19030.hp2
HG02559.hp2
NA19030.hp2
 intron_variant MODIFIER c.250+23336A>G
c.250+23336A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105852476
chr7:105852584 G
G
 A
A
 6 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(3): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0040g0207
a0002c0002t0030g0212
 6 HG02723.hp1
HG03098.hp2
HG03471.hp2
others(3): Show 
HG02723.hp1
HG03098.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
 intron_variant MODIFIER c.250+23228C>T
c.250+23228C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105852584
chr7:105852649 C
C
 A
A
 19 a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
others(16): Show 
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0035g0151
a0001c0001t0057g0229
a0002c0002t0032g0149
 19 HG00738.hp1
HG01069.hp1
HG01109.hp2
others(16): Show 
HG00738.hp1
HG01069.hp1
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG02818.hp2
HG03130.hp2
HG03490.hp1
HG03491.hp1
HG04199.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+23163G>T
c.250+23163G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105852649
chr7:105852684 A
A
 G
G
 46 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(43): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
a0002c0002t0030g0208
a0002c0002t0030g0212
a0007c0009t0007g0096
 46 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(43): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02630.hp2
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG03098.hp2
HG03471.hp2
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
NA20129.hp2
 intron_variant MODIFIER c.250+23128T>C
c.250+23128T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105852684
chr7:105852881 G
G
 T
T
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.250+22931C>A
c.250+22931C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105852881
chr7:105853015 C
C
 G
G
 6 a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0216
others(3): Show 
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0022g0224
a0001c0001t0029g0215
a0002c0002t0033g0221
 6 HG02055.hp1
HG02647.hp1
HG02965.hp2
others(3): Show 
HG02055.hp1
HG02647.hp1
HG02965.hp2
HG03516.hp1
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.250+22797G>C
c.250+22797G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105853015
chr7:105853120 T
T
 A
A
 1 a0001c0001t0002g0188
a0001c0001t0002g0188
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.250+22692A>T
c.250+22692A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105853120
chr7:105853231 T
T
 C
C
 2 a0001c0001t0005g0206
a0001c0005t0007g0209
a0001c0001t0005g0206
a0001c0005t0007g0209
 2 HG01891.hp1
HG02055.hp2
HG01891.hp1
HG02055.hp2
 intron_variant MODIFIER c.250+22581A>G
c.250+22581A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105853231
chr7:105853266 A
A
 G
G
 39 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(36): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
a0002c0002t0030g0208
a0007c0009t0007g0096
 39 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(36): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02630.hp2
HG02896.hp2
HG03688.hp1
HG03942.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18995.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
NA20129.hp2
 intron_variant MODIFIER c.250+22546T>C
c.250+22546T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105853266
chr7:105853286 C
C
 T
T
 2 a0001c0001t0003g0147
a0001c0001t0009g0146
a0001c0001t0003g0147
a0001c0001t0009g0146
 2 NA19068.hp2
NA19087.hp2
NA19068.hp2
NA19087.hp2
 intron_variant MODIFIER c.250+22526G>A
c.250+22526G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105853286
chr7:105853369 A
A
 G
G
 1 a0001c0001t0007g0223
a0001c0001t0007g0223
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.250+22443T>C
c.250+22443T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105853369
chr7:105853395 A
A
 C
C
 1 a0001c0001t0006g0116
a0001c0001t0006g0116
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.250+22417T>G
c.250+22417T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105853395
chr7:105853557 AAACAAAC
others(11): Show 
AAACAAACAAACAAAAAAC
 A
A
 1 a0002c0002t0030g0208
a0002c0002t0030g0208
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.250+22237_250+2225
others(22): Show 
c.250+22237_250+22254delGTTTTTTGTTTGTTTGTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105853557
chr7:105853625 G
G
 T
T
 1 a0001c0001t0009g0054
a0001c0001t0009g0054
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.250+22187C>A
c.250+22187C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105853625
chr7:105853659 G
G
 A
A
 3 a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
 3 HG01891.hp2
HG02630.hp2
HG02896.hp2
HG01891.hp2
HG02630.hp2
HG02896.hp2
 intron_variant MODIFIER c.250+22153C>T
c.250+22153C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105853659
chr7:105853693 G
G
 T
T
 4 a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0009g0141
others(1): Show 
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0009g0141
a0001c0001t0011g0143
 4 HG02129.hp1
NA19074.hp1
NA19088.hp2
others(1): Show 
HG02129.hp1
NA19074.hp1
NA19088.hp2
NA19091.hp2
 intron_variant MODIFIER c.250+22119C>A
c.250+22119C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105853693
chr7:105854018 G
G
 A
A
 2 a0001c0001t0003g0011
a0001c0001t0009g0054
a0001c0001t0003g0011
a0001c0001t0009g0054
 2 NA18943.hp1
NA18995.hp1
NA18943.hp1
NA18995.hp1
 intron_variant MODIFIER c.250+21794C>T
c.250+21794C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854018
chr7:105854165 TC
TC
 T
T
 30 a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
others(27): Show 
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0003g0090
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0008g0015
a0001c0001t0008g0175
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0014g0166
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0007t0038g0158
a0001c0008t0014g0165
a0005c0011t0008g0092
 30 HG00558.hp1
HG00673.hp2
HG01167.hp1
others(27): Show 
HG00558.hp1
HG00673.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp2
HG01261.hp2
HG01358.hp2
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02300.hp1
HG03669.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18962.hp2
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19054.hp1
NA19067.hp2
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.250+21646delG
c.250+21646delG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854165
chr7:105854471 G
G
 GA
GA
 7 a0001c0001t0005g0027
a0001c0001t0015g0193
a0001c0001t0017g0194
others(4): Show 
a0001c0001t0005g0027
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0053g0031
a0001c0001t0060g0192
a0001c0012t0003g0047
 7 HG01074.hp1
HG01243.hp1
HG01884.hp2
others(4): Show 
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG01934.hp2
HG02145.hp1
HG03209.hp1
NA19054.hp2
 intron_variant MODIFIER c.250+21340dupT
c.250+21340dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854471
chr7:105854471 GA
GA
 G
G
 69 a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
others(66): Show 
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0239
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0127
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0016g0176
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0028g0114
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0032g0149
a0002c0002t0033g0221
a0005c0011t0008g0092
 69 HG00558.hp1
HG00558.hp2
HG00673.hp2
others(66): Show 
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00738.hp1
HG01069.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02300.hp1
HG02572.hp2
HG02602.hp2
HG02647.hp1
HG02818.hp2
HG02895.hp2
HG02965.hp2
HG03130.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG03669.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+21340delT
c.250+21340delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854471
chr7:105854471 GAA
GAA
 G
G
 109 a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
others(106): Show 
a0001c0001t0001g0003
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0043
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0006c0010t0031g0204
a0007c0009t0007g0096
 109 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(106): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19086.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.250+21339_250+2134
others(6): Show 
c.250+21339_250+21340delTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854471
chr7:105854517 G
G
 A
A
 123 a0001c0001t0001g0003
a0001c0001t0001g0059
a0001c0001t0001g0088
others(120): Show 
a0001c0001t0001g0003
a0001c0001t0001g0059
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0008g0075
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
 123 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(120): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02027.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp1
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+21295C>T
c.250+21295C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854517
chr7:105854525 T
T
 G
G
 228 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(225): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 228 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(225): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+21287A>C
c.250+21287A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854525
chr7:105854530 GA
GA
 G
G
 10 a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0006g0168
others(7): Show 
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0006g0168
a0001c0001t0007g0218
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0012t0003g0047
a0004c0013t0036g0107
 10 HG00280.hp1
HG00741.hp1
HG01175.hp1
others(7): Show 
HG00280.hp1
HG00741.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG02896.hp1
HG03041.hp2
NA19054.hp2
 intron_variant MODIFIER c.250+21281delT
c.250+21281delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854530
chr7:105854530 GAA
GAA
 G
G
 225 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(222): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
 225 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(222): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+21280_250+2128
others(6): Show 
c.250+21280_250+21281delTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854530
chr7:105854530 GAAA
GAAA
 G
G
 8 a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
others(5): Show 
a0001c0001t0001g0102
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 8 HG02056.hp1
HG02135.hp1
NA18989.hp1
others(5): Show 
HG02056.hp1
HG02135.hp1
NA18989.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+21279_250+2128
others(7): Show 
c.250+21279_250+21281delTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854530
chr7:105854545 A
A
 C
C
 3 a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
 3 HG01891.hp2
HG02630.hp2
HG02896.hp2
HG01891.hp2
HG02630.hp2
HG02896.hp2
 intron_variant MODIFIER c.250+21267T>G
c.250+21267T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854545
chr7:105854655 G
G
 A
A
 6 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(3): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0006g0116
a0001c0001t0040g0207
a0002c0002t0030g0212
 6 HG02723.hp1
HG03098.hp2
HG03471.hp2
others(3): Show 
HG02723.hp1
HG03098.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
 intron_variant MODIFIER c.250+21157C>T
c.250+21157C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854655
chr7:105854784 A
A
 AG
AG
 9 a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0003g0070
others(6): Show 
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0003g0070
a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0016g0139
a0001c0001t0046g0138
a0002c0002t0059g0200
a0006c0010t0031g0204
 9 HG02451.hp2
HG02559.hp1
HG02622.hp1
others(6): Show 
HG02451.hp2
HG02559.hp1
HG02622.hp1
HG02647.hp2
HG02895.hp1
HG03041.hp1
HG03579.hp2
NA18906.hp1
NA20129.hp1
 intron_variant MODIFIER c.250+21027dupC
c.250+21027dupC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854784
chr7:105854927 T
T
 C
C
 1 a0001c0001t0058g0018
a0001c0001t0058g0018
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.250+20885A>G
c.250+20885A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854927
chr7:105854958 CT
CT
 C
C
 159 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(156): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0008g0075
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 159 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(156): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+20853delA
c.250+20853delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105854958
chr7:105855111 C
C
 T
T
 152 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(149): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0008g0075
a0001c0001t0008g0175
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
 152 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(149): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+20701G>A
c.250+20701G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105855111
chr7:105855154 C
C
 A
A
 1 a0001c0001t0055g0252
a0001c0001t0055g0252
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.250+20658G>T
c.250+20658G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105855154
chr7:105855168 T
T
 C
C
 7 a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0216
others(4): Show 
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0013g0156
a0001c0001t0022g0224
a0001c0001t0029g0215
a0002c0002t0033g0221
 7 HG02055.hp1
HG02647.hp1
HG02895.hp2
others(4): Show 
HG02055.hp1
HG02647.hp1
HG02895.hp2
HG02965.hp2
HG03516.hp1
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.250+20644A>G
c.250+20644A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105855168
chr7:105855195 C
C
 T
T
 1 a0001c0001t0005g0248
a0001c0001t0005g0248
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.250+20617G>A
c.250+20617G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105855195
chr7:105855388 G
G
 A
A
 3 a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
a0001c0001t0005g0206
a0001c0001t0056g0210
a0001c0005t0007g0209
 3 HG01891.hp1
HG02055.hp2
HG03225.hp2
HG01891.hp1
HG02055.hp2
HG03225.hp2
 intron_variant MODIFIER c.250+20424C>T
c.250+20424C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105855388
chr7:105855645 T
T
 C
C
 1 a0001c0001t0001g0163
a0001c0001t0001g0163
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.250+20167A>G
c.250+20167A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105855645
chr7:105855966 C
C
 G
G
 237 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(234): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 237 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(234): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+19846G>C
c.250+19846G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105855966
chr7:105856082 C
C
 G
G
 118 a0001c0001t0001g0003
a0001c0001t0001g0059
a0001c0001t0001g0088
others(115): Show 
a0001c0001t0001g0003
a0001c0001t0001g0059
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0008g0075
a0001c0001t0008g0175
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
 118 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(115): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02027.hp1
HG02055.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+19730G>C
c.250+19730G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105856082
chr7:105856168 C
C
 T
T
 3 a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
 3 HG01891.hp2
HG02630.hp2
HG02896.hp2
HG01891.hp2
HG02630.hp2
HG02896.hp2
 intron_variant MODIFIER c.250+19644G>A
c.250+19644G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105856168
chr7:105856356 C
C
 T
T
 42 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
others(39): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0078
a0001c0001t0001g0106
a0001c0001t0001g0214
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0116
a0001c0001t0007g0057
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0025g0104
a0001c0001t0040g0207
a0001c0001t0043g0105
a0001c0001t0056g0210
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0012t0003g0047
a0002c0002t0030g0212
 42 HG00741.hp2
HG01433.hp2
HG01516.hp1
others(39): Show 
HG00741.hp2
HG01433.hp2
HG01516.hp1
HG01891.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02723.hp1
HG03098.hp2
HG03225.hp2
HG03471.hp2
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18943.hp2
NA18945.hp2
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19043.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+19456G>A
c.250+19456G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105856356
chr7:105856496 G
G
 C
C
 29 a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
others(26): Show 
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0003g0090
a0001c0001t0003g0171
a0001c0001t0004g0127
a0001c0001t0008g0175
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0014g0166
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0054g0087
a0001c0007t0038g0158
a0001c0008t0014g0165
a0005c0011t0008g0092
 29 HG00558.hp1
HG00673.hp2
HG01167.hp1
others(26): Show 
HG00558.hp1
HG00673.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp2
HG01261.hp2
HG01358.hp2
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02083.hp1
HG02129.hp2
HG02148.hp1
HG02300.hp1
HG03669.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19054.hp1
NA19067.hp2
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.250+19316C>G
c.250+19316C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105856496
chr7:105856534 C
C
 T
T
 152 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
others(149): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0090
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0008g0075
a0001c0001t0008g0175
a0001c0001t0009g0055
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0005c0011t0008g0092
a0006c0010t0031g0204
 152 HG00323.hp1
HG00323.hp2
HG00558.hp1
others(149): Show 
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02895.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+19278G>A
c.250+19278G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105856534
chr7:105856586 C
C
 CA
CA
 71 a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
others(68): Show 
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0102
a0001c0001t0001g0181
a0001c0001t0001g0222
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0019g0178
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0044g0110
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0003c0003t0005g0079
 71 HG00280.hp2
HG00642.hp1
HG00673.hp1
others(68): Show 
HG00280.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01243.hp1
HG01346.hp1
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02056.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02300.hp2
HG02523.hp1
HG02572.hp1
HG02630.hp1
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp2
HG03490.hp2
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG04199.hp2
HG06807.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18989.hp1
NA18994.hp2
NA19003.hp1
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19074.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+19225dupT
c.250+19225dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105856586
chr7:105856625 T
T
 C
C
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.250+19187A>G
c.250+19187A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105856625
chr7:105856683 T
T
 A
A
 3 a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
 3 HG01891.hp2
HG02630.hp2
HG02896.hp2
HG01891.hp2
HG02630.hp2
HG02896.hp2
 intron_variant MODIFIER c.250+19129A>T
c.250+19129A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105856683
chr7:105856768 T
T
 C
C
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.250+19044A>G
c.250+19044A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105856768
chr7:105856803 A
A
 ATG
ATG
 9 a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0005g0248
others(6): Show 
a0001c0001t0001g0222
a0001c0001t0002g0021
a0001c0001t0005g0248
a0001c0001t0016g0069
a0001c0001t0027g0134
a0001c0001t0044g0110
a0001c0001t0045g0190
a0002c0002t0030g0208
a0007c0009t0007g0096
 9 HG01891.hp2
HG02280.hp2
HG02630.hp2
others(6): Show 
HG01891.hp2
HG02280.hp2
HG02630.hp2
HG02896.hp2
HG02965.hp1
HG03130.hp1
HG03139.hp1
NA19060.hp1
NA19085.hp1
 intron_variant MODIFIER c.250+19007_250+1900
others(6): Show 
c.250+19007_250+19008dupCA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105856803
chr7:105857222 C
C
 G
G
 5 a0001c0001t0004g0137
a0001c0001t0010g0111
a0001c0001t0016g0136
others(2): Show 
a0001c0001t0004g0137
a0001c0001t0010g0111
a0001c0001t0016g0136
a0001c0001t0017g0113
a0001c0001t0020g0120
 5 HG00738.hp2
HG01192.hp1
HG03209.hp2
others(2): Show 
HG00738.hp2
HG01192.hp1
HG03209.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.250+18590G>C
c.250+18590G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105857222
chr7:105857499 G
G
 A
A
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+18313C>T
c.250+18313C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105857499
chr7:105857810 T
T
 C
C
 1 a0001c0001t0043g0105
a0001c0001t0043g0105
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.250+18002A>G
c.250+18002A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105857810
chr7:105857911 C
C
 G
G
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.250+17901G>C
c.250+17901G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105857911
chr7:105857917 G
G
 C
C
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+17895C>G
c.250+17895C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105857917
chr7:105857934 A
A
 C
C
 2 a0001c0001t0021g0130
a0001c0001t0028g0114
a0001c0001t0021g0130
a0001c0001t0028g0114
 2 NA19043.hp1
NA19240.hp2
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.250+17878T>G
c.250+17878T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105857934
chr7:105858177 G
G
 A
A
 1 a0001c0001t0004g0135
a0001c0001t0004g0135
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.250+17635C>T
c.250+17635C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105858177
chr7:105858288 G
G
 A
A
 1 a0001c0001t0007g0057
a0001c0001t0007g0057
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.250+17524C>T
c.250+17524C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105858288
chr7:105858434 C
C
 T
T
 8 a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
others(5): Show 
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 8 HG02056.hp1
HG02135.hp1
HG02895.hp2
others(5): Show 
HG02056.hp1
HG02135.hp1
HG02895.hp2
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+17378G>A
c.250+17378G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105858434
chr7:105858439 C
C
 T
T
 7 a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
others(4): Show 
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 7 HG02056.hp1
HG02135.hp1
NA19003.hp1
others(4): Show 
HG02056.hp1
HG02135.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+17373G>A
c.250+17373G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105858439
chr7:105858460 C
C
 G
G
 1 a0002c0002t0030g0208
a0002c0002t0030g0208
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.250+17352G>C
c.250+17352G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105858460
chr7:105858479 T
T
 G
G
 7 a0001c0001t0001g0119
a0001c0001t0003g0118
a0001c0001t0004g0127
others(4): Show 
a0001c0001t0001g0119
a0001c0001t0003g0118
a0001c0001t0004g0127
a0001c0001t0012g0232
a0001c0001t0014g0123
a0001c0001t0019g0063
a0001c0001t0047g0121
 7 HG01167.hp1
HG01167.hp2
HG01168.hp1
others(4): Show 
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01261.hp2
HG01358.hp2
HG03669.hp1
 intron_variant MODIFIER c.250+17333A>C
c.250+17333A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105858479
chr7:105858521 G
G
 A
A
 72 a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
others(69): Show 
a0001c0001t0001g0088
a0001c0001t0001g0119
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0063
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0035g0151
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0005c0011t0008g0092
a0007c0009t0007g0096
 72 HG00558.hp1
HG00558.hp2
HG00673.hp2
others(69): Show 
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02818.hp1
HG02818.hp2
HG03098.hp2
HG03130.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03540.hp1
HG03669.hp1
HG04199.hp1
NA18522.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19054.hp1
NA19056.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+17291C>T
c.250+17291C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105858521
chr7:105858538 G
G
 A
A
 1 a0002c0002t0030g0212
a0002c0002t0030g0212
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.250+17274C>T
c.250+17274C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105858538
chr7:105858624 C
C
 T
T
 1 a0001c0001t0015g0109
a0001c0001t0015g0109
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.250+17188G>A
c.250+17188G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105858624
chr7:105858663 T
T
 C
C
 1 a0001c0001t0007g0218
a0001c0001t0007g0218
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.250+17149A>G
c.250+17149A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105858663
chr7:105858718 T
T
 C
C
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.250+17094A>G
c.250+17094A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105858718
chr7:105858859 G
G
 A
A
 1 a0001c0001t0026g0234
a0001c0001t0026g0234
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.250+16953C>T
c.250+16953C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105858859
chr7:105859001 C
C
 A
A
 37 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0102
others(34): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0179
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0100
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0018g0046
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 37 HG00741.hp2
HG01346.hp1
HG01433.hp2
others(34): Show 
HG00741.hp2
HG01346.hp1
HG01433.hp2
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp2
HG03688.hp1
HG03942.hp2
NA18943.hp2
NA18945.hp2
NA18954.hp2
NA18957.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+16811G>T
c.250+16811G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859001
chr7:105859007 C
C
 T
T
 1 a0001c0006t0001g0112
a0001c0006t0001g0112
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.250+16805G>A
c.250+16805G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859007
chr7:105859075 T
T
 G
G
 12 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(9): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0040g0207
a0001c0001t0056g0210
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
 12 HG01891.hp1
HG02055.hp2
HG02572.hp2
others(9): Show 
HG01891.hp1
HG02055.hp2
HG02572.hp2
HG02630.hp1
HG02723.hp1
HG02723.hp2
HG02896.hp2
HG03098.hp2
HG03225.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
 intron_variant MODIFIER c.250+16737A>C
c.250+16737A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859075
chr7:105859080 C
C
 T
T
 132 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0088
others(129): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0005c0011t0008g0092
a0007c0009t0007g0096
 132 HG00558.hp1
HG00558.hp2
HG00673.hp2
others(129): Show 
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+16732G>A
c.250+16732G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859080
chr7:105859234 C
C
 T
T
 1 a0001c0001t0003g0238
a0001c0001t0003g0238
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.250+16578G>A
c.250+16578G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859234
chr7:105859235 A
A
 G
G
 126 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0088
others(123): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0005c0011t0008g0092
a0007c0009t0007g0096
 126 HG00558.hp1
HG00558.hp2
HG00673.hp2
others(123): Show 
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+16577T>C
c.250+16577T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859235
chr7:105859284 A
A
 C
C
 7 a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
others(4): Show 
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 7 HG02056.hp1
HG02135.hp1
NA19003.hp1
others(4): Show 
HG02056.hp1
HG02135.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+16528T>G
c.250+16528T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859284
chr7:105859390 A
A
 AAT
AAT
 3 a0001c0001t0002g0179
a0001c0001t0009g0097
a0001c0001t0019g0178
a0001c0001t0002g0179
a0001c0001t0009g0097
a0001c0001t0019g0178
 3 HG01346.hp1
HG01934.hp1
NA18954.hp2
HG01346.hp1
HG01934.hp1
NA18954.hp2
 intron_variant MODIFIER c.250+16420_250+1642
others(6): Show 
c.250+16420_250+16421dupAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859390
chr7:105859460 A
A
 G
G
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+16352T>C
c.250+16352T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859460
chr7:105859469 C
C
 T
T
 6 a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0216
others(3): Show 
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0022g0224
a0001c0001t0029g0215
a0002c0002t0033g0221
 6 HG02055.hp1
HG02647.hp1
HG02965.hp2
others(3): Show 
HG02055.hp1
HG02647.hp1
HG02965.hp2
HG03516.hp1
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.250+16343G>A
c.250+16343G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859469
chr7:105859627 A
A
 G
G
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.250+16185T>C
c.250+16185T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859627
chr7:105859646 A
A
 T
T
 12 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(9): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0040g0207
a0001c0001t0056g0210
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
 12 HG01891.hp1
HG02055.hp2
HG02572.hp2
others(9): Show 
HG01891.hp1
HG02055.hp2
HG02572.hp2
HG02630.hp1
HG02723.hp1
HG02723.hp2
HG02896.hp2
HG03098.hp2
HG03225.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
 intron_variant MODIFIER c.250+16166T>A
c.250+16166T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859646
chr7:105859720 A
A
 T
T
 132 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0088
others(129): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0047g0121
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0005c0011t0008g0092
a0007c0009t0007g0096
 132 HG00558.hp1
HG00558.hp2
HG00673.hp2
others(129): Show 
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG03688.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+16092T>A
c.250+16092T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859720
chr7:105859782 CT
CT
 C
C
 229 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(226): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 229 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(226): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+16029delA
c.250+16029delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859782
chr7:105859813 C
C
 T
T
 1 a0001c0001t0053g0031
a0001c0001t0053g0031
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.250+15999G>A
c.250+15999G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105859813
chr7:105860061 A
A
 G
G
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+15751T>C
c.250+15751T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860061
chr7:105860105 A
A
 G
G
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.250+15707T>C
c.250+15707T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860105
chr7:105860128 A
A
 AAT
AAT
 49 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0082
others(46): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0082
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0002g0048
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0076
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0159
a0001c0001t0008g0073
a0001c0001t0009g0020
a0001c0001t0009g0103
a0001c0001t0010g0095
a0001c0001t0011g0143
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0016g0069
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0028g0037
a0001c0001t0035g0151
a0001c0001t0049g0148
a0001c0001t0053g0031
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0004t0010g0154
a0001c0008t0014g0165
a0002c0002t0030g0208
a0002c0002t0059g0200
a0006c0010t0031g0204
 49 HG00280.hp2
HG00738.hp1
HG01069.hp1
others(46): Show 
HG00280.hp2
HG00738.hp1
HG01069.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01168.hp2
HG01169.hp1
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01884.hp2
HG01981.hp1
HG02071.hp1
HG02071.hp2
HG02132.hp2
HG02155.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp2
HG02647.hp2
HG02735.hp1
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03490.hp2
HG03579.hp2
HG03831.hp2
HG04199.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp1
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+15682_250+1568
others(6): Show 
c.250+15682_250+15683dupAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860128
chr7:105860128 A
A
 AATAT
AATAT
 77 a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
others(74): Show 
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0086
a0001c0001t0003g0147
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0025
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0008g0015
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0097
a0001c0001t0010g0091
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0101
a0001c0001t0011g0152
a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0021g0130
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0048g0132
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0007t0038g0158
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0032g0149
a0003c0003t0005g0079
a0005c0011t0008g0092
 77 HG00558.hp2
HG00642.hp1
HG00673.hp2
others(74): Show 
HG00558.hp2
HG00642.hp1
HG00673.hp2
HG01109.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01346.hp1
HG01346.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01952.hp2
HG01981.hp2
HG02056.hp1
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02523.hp2
HG02602.hp2
HG02622.hp1
HG02738.hp1
HG02818.hp2
HG02965.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG06807.hp2
NA18906.hp2
NA18945.hp2
NA18948.hp1
NA18954.hp2
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18989.hp1
NA18989.hp2
NA19005.hp1
NA19009.hp2
NA19010.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+15680_250+1568
others(8): Show 
c.250+15680_250+15683dupATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860128
chr7:105860128 A
A
 AATATAT
AATATAT
 14 a0001c0001t0001g0078
a0001c0001t0002g0049
a0001c0001t0002g0053
others(11): Show 
a0001c0001t0001g0078
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0011g0099
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0028g0114
a0001c0001t0064g0098
 14 HG00558.hp1
HG01934.hp1
HG01978.hp1
others(11): Show 
HG00558.hp1
HG01934.hp1
HG01978.hp1
HG02015.hp2
HG02027.hp1
HG02135.hp2
HG02155.hp2
HG02451.hp1
HG02622.hp2
NA18747.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19079.hp2
 intron_variant MODIFIER c.250+15678_250+1568
others(10): Show 
c.250+15678_250+15683dupATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860128
chr7:105860128 A
A
 AATATATA
others(1): Show 
AATATATAT
 12 a0001c0001t0003g0006
a0001c0001t0004g0135
a0001c0001t0006g0001
others(9): Show 
a0001c0001t0003g0006
a0001c0001t0004g0135
a0001c0001t0006g0001
a0001c0001t0009g0055
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0018g0058
a0001c0001t0024g0077
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0054g0087
a0002c0002t0032g0226
 12 HG00673.hp1
HG01074.hp2
HG01978.hp2
others(9): Show 
HG00673.hp1
HG01074.hp2
HG01978.hp2
HG02056.hp2
HG02572.hp1
HG02572.hp2
HG03139.hp1
NA18995.hp2
NA19010.hp2
NA19074.hp1
NA19086.hp2
NA20300.hp2
 intron_variant MODIFIER c.250+15676_250+1568
others(12): Show 
c.250+15676_250+15683dupATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860128
chr7:105860128 A
A
 AATATATA
others(3): Show 
AATATATATAT
 3 a0001c0001t0010g0032
a0001c0001t0026g0234
a0001c0001t0063g0041
a0001c0001t0010g0032
a0001c0001t0026g0234
a0001c0001t0063g0041
 3 HG02145.hp2
HG02148.hp2
NA19066.hp1
HG02145.hp2
HG02148.hp2
NA19066.hp1
 intron_variant MODIFIER c.250+15674_250+1568
others(14): Show 
c.250+15674_250+15683dupATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860128
chr7:105860128 A
A
 AATATATA
others(7): Show 
AATATATATATATAT
 1 a0001c0001t0009g0146
a0001c0001t0009g0146
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.250+15670_250+1568
others(18): Show 
c.250+15670_250+15683dupATATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860128
chr7:105860128 A
A
 ATATATAT
others(4): Show 
ATATATATATAT
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.250+15683_250+1568
others(15): Show 
c.250+15683_250+15684insATATATATATA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860128
chr7:105860128 AATATATA
others(13): Show 
AATATATATATATATATATAC
 A
A
 1 a0001c0001t0017g0213
a0001c0001t0017g0213
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.250+15664_250+1568
others(24): Show 
c.250+15664_250+15683delGTATATATATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860128
chr7:105860130 TATATATA
others(11): Show 
TATATATATATATATATAC
 T
T
 6 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(3): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0040g0207
a0002c0002t0022g0220
a0002c0002t0030g0212
 6 HG02723.hp1
HG02723.hp2
HG03098.hp2
others(3): Show 
HG02723.hp1
HG02723.hp2
HG03098.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
 intron_variant MODIFIER c.250+15664_250+1568
others(22): Show 
c.250+15664_250+15681delGTATATATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860130
chr7:105860134 TATATATA
others(7): Show 
TATATATATATATAC
 T
T
 3 a0001c0001t0006g0197
a0001c0001t0010g0051
a0001c0001t0025g0104
a0001c0001t0006g0197
a0001c0001t0010g0051
a0001c0001t0025g0104
 3 HG01516.hp1
HG02559.hp2
HG03942.hp2
HG01516.hp1
HG02559.hp2
HG03942.hp2
 intron_variant MODIFIER c.250+15664_250+1567
others(18): Show 
c.250+15664_250+15677delGTATATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860134
chr7:105860136 TATATATA
others(5): Show 
TATATATATATAC
 T
T
 6 a0001c0001t0004g0127
a0001c0001t0012g0115
a0001c0001t0016g0061
others(3): Show 
a0001c0001t0004g0127
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0047g0121
 6 HG00741.hp2
HG01261.hp2
HG01358.hp2
others(3): Show 
HG00741.hp2
HG01261.hp2
HG01358.hp2
HG01943.hp1
HG01952.hp1
HG03669.hp1
 intron_variant MODIFIER c.250+15664_250+1567
others(16): Show 
c.250+15664_250+15675delGTATATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860136
chr7:105860138 TATATATA
others(3): Show 
TATATATATAC
 T
T
 11 a0001c0001t0001g0119
a0001c0001t0002g0231
a0001c0001t0007g0217
others(8): Show 
a0001c0001t0001g0119
a0001c0001t0002g0231
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0011g0157
a0001c0001t0012g0232
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0045g0190
a0002c0002t0033g0221
 11 HG01167.hp1
HG01168.hp1
HG01433.hp2
others(8): Show 
HG01167.hp1
HG01168.hp1
HG01433.hp2
HG01891.hp2
HG02055.hp1
HG02647.hp1
HG02965.hp2
HG03516.hp1
HG03540.hp2
NA19003.hp2
NA19030.hp1
 intron_variant MODIFIER c.250+15664_250+1567
others(14): Show 
c.250+15664_250+15673delGTATATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860138
chr7:105860140 TATATATA
others(1): Show 
TATATATAC
 T
T
 13 a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0005g0126
others(10): Show 
a0001c0001t0004g0124
a0001c0001t0004g0128
a0001c0001t0005g0126
a0001c0001t0006g0024
a0001c0001t0012g0064
a0001c0001t0014g0237
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0018g0131
a0001c0001t0029g0072
 13 HG00323.hp2
HG01074.hp1
HG01243.hp1
others(10): Show 
HG00323.hp2
HG01074.hp1
HG01243.hp1
HG01255.hp1
HG01515.hp2
HG01517.hp2
HG02015.hp1
HG02602.hp1
HG02738.hp2
HG03209.hp1
HG03239.hp1
HG04199.hp2
NA18747.hp1
 intron_variant MODIFIER c.250+15664_250+1567
others(12): Show 
c.250+15664_250+15671delGTATATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860140
chr7:105860142 TATATAC
TATATAC
 T
T
 13 a0001c0001t0001g0003
a0001c0001t0001g0059
a0001c0001t0003g0070
others(10): Show 
a0001c0001t0001g0003
a0001c0001t0001g0059
a0001c0001t0003g0070
a0001c0001t0003g0118
a0001c0001t0006g0067
a0001c0001t0007g0144
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0014g0123
a0001c0001t0016g0139
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0056g0210
 13 HG00642.hp2
HG01167.hp2
HG01169.hp2
others(10): Show 
HG00642.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG02280.hp1
HG02559.hp1
HG02735.hp2
HG02895.hp2
HG03098.hp1
HG03225.hp2
HG03669.hp2
NA18906.hp1
NA20129.hp2
 intron_variant MODIFIER c.250+15664_250+1566
others(10): Show 
c.250+15664_250+15669delGTATAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860142
chr7:105860144 TATAC
TATAC
 T
T
 6 a0001c0001t0005g0206
a0001c0001t0012g0052
a0001c0001t0012g0122
others(3): Show 
a0001c0001t0005g0206
a0001c0001t0012g0052
a0001c0001t0012g0122
a0001c0001t0055g0252
a0001c0001t0060g0192
a0001c0005t0007g0209
 6 HG00735.hp2
HG01257.hp1
HG01884.hp1
others(3): Show 
HG00735.hp2
HG01257.hp1
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02145.hp1
 intron_variant MODIFIER c.250+15664_250+1566
others(8): Show 
c.250+15664_250+15667delGTAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860144
chr7:105860146 TAC
TAC
 T
T
 6 a0001c0001t0002g0167
a0001c0001t0008g0075
a0001c0001t0010g0111
others(3): Show 
a0001c0001t0002g0167
a0001c0001t0008g0075
a0001c0001t0010g0111
a0001c0001t0025g0240
a0001c0001t0041g0196
a0001c0006t0001g0112
 6 HG00738.hp2
HG03130.hp2
HG03490.hp1
others(3): Show 
HG00738.hp2
HG03130.hp2
HG03490.hp1
HG03491.hp2
NA19030.hp2
NA19088.hp1
 intron_variant MODIFIER c.250+15664_250+1566
others(6): Show 
c.250+15664_250+15665delGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860146
chr7:105860148 C
C
 CAT
CAT
 7 a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0015g0060
others(4): Show 
a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0020g0169
a0001c0001t0031g0172
a0004c0013t0036g0107
 7 HG00280.hp1
HG00741.hp1
HG01175.hp1
others(4): Show 
HG00280.hp1
HG00741.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
 intron_variant MODIFIER c.250+15662_250+1566
others(6): Show 
c.250+15662_250+15663dupAT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860148
chr7:105860148 C
C
 T
T
 173 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(170): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0030g0208
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 173 HG00280.hp2
HG00323.hp1
HG00558.hp1
others(170): Show 
HG00280.hp2
HG00323.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+15664G>A
c.250+15664G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860148
chr7:105860210 T
T
 G
G
 1 a0001c0001t0002g0153
a0001c0001t0002g0153
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.250+15602A>C
c.250+15602A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860210
chr7:105860223 G
G
 A
A
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+15589C>T
c.250+15589C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860223
chr7:105860244 A
A
 G
G
 127 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0088
others(124): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0016g0061
a0001c0001t0016g0176
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0029g0215
a0001c0001t0035g0151
a0001c0001t0040g0207
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0005c0011t0008g0092
a0007c0009t0007g0096
 127 HG00558.hp1
HG00558.hp2
HG00673.hp2
others(124): Show 
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01109.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG03688.hp1
HG03942.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18957.hp1
NA18962.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19060.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+15568T>C
c.250+15568T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860244
chr7:105860274 G
G
 T
T
 7 a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
others(4): Show 
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 7 HG02056.hp1
HG02135.hp1
NA19003.hp1
others(4): Show 
HG02056.hp1
HG02135.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+15538C>A
c.250+15538C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860274
chr7:105860299 G
G
 A
A
 1 a0001c0001t0008g0015
a0001c0001t0008g0015
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.250+15513C>T
c.250+15513C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860299
chr7:105860406 G
G
 C
C
 7 a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
others(4): Show 
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 7 HG02056.hp1
HG02135.hp1
NA19003.hp1
others(4): Show 
HG02056.hp1
HG02135.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+15406C>G
c.250+15406C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860406
chr7:105860428 A
A
 G
G
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+15384T>C
c.250+15384T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860428
chr7:105860447 T
T
 C
C
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+15365A>G
c.250+15365A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860447
chr7:105860646 A
A
 T
T
 1 a0001c0001t0020g0120
a0001c0001t0020g0120
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.250+15166T>A
c.250+15166T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860646
chr7:105860794 G
G
 A
A
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+15018C>T
c.250+15018C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860794
chr7:105860952 G
G
 A
A
 2 a0001c0001t0010g0051
a0001c0001t0025g0104
a0001c0001t0010g0051
a0001c0001t0025g0104
 2 HG01516.hp1
HG03942.hp2
HG01516.hp1
HG03942.hp2
 intron_variant MODIFIER c.250+14860C>T
c.250+14860C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860952
chr7:105860989 T
T
 C
C
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+14823A>G
c.250+14823A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105860989
chr7:105861025 C
C
 A
A
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.250+14787G>T
c.250+14787G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105861025
chr7:105861081 G
G
 C
C
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+14731C>G
c.250+14731C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105861081
chr7:105861185 A
A
 G
G
 36 a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0102
others(33): Show 
a0001c0001t0001g0005
a0001c0001t0001g0026
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0002g0016
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0100
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0018g0046
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0001t0064g0098
a0001c0012t0003g0047
 36 HG01346.hp1
HG01516.hp1
HG01934.hp1
others(33): Show 
HG01346.hp1
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02896.hp1
HG03688.hp1
HG03942.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18954.hp2
NA18957.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+14627T>C
c.250+14627T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105861185
chr7:105861255 G
G
 A
A
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+14557C>T
c.250+14557C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105861255
chr7:105861260 C
C
 T
T
 2 a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0049
a0001c0001t0002g0053
 2 NA19005.hp2
NA19079.hp2
NA19005.hp2
NA19079.hp2
 intron_variant MODIFIER c.250+14552G>A
c.250+14552G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105861260
chr7:105861481 AG
AG
 A
A
 28 a0001c0001t0001g0026
a0001c0001t0001g0102
a0001c0001t0001g0106
others(25): Show 
a0001c0001t0001g0026
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0002g0016
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0050
a0001c0001t0003g0100
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0018g0046
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0012t0003g0047
 28 HG01346.hp1
HG01516.hp1
HG01934.hp1
others(25): Show 
HG01346.hp1
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02155.hp2
HG02165.hp1
HG03688.hp1
HG03942.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18954.hp2
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+14330delC
c.250+14330delC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105861481
chr7:105861565 A
A
 G
G
 2 a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0049
a0001c0001t0002g0053
 2 NA19005.hp2
NA19079.hp2
NA19005.hp2
NA19079.hp2
 intron_variant MODIFIER c.250+14247T>C
c.250+14247T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105861565
chr7:105861705 G
G
 A
A
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.250+14107C>T
c.250+14107C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105861705
chr7:105862060 G
G
 C
C
 1 a0002c0002t0030g0208
a0002c0002t0030g0208
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.250+13752C>G
c.250+13752C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105862060
chr7:105862160 C
C
 T
T
 58 a0001c0001t0001g0088
a0001c0001t0001g0163
a0001c0001t0001g0174
others(55): Show 
a0001c0001t0001g0088
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0026g0234
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0049g0148
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0032g0149
a0005c0011t0008g0092
 58 HG00323.hp2
HG00558.hp1
HG00558.hp2
others(55): Show 
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00738.hp1
HG01069.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02818.hp2
HG03130.hp2
HG03491.hp1
HG04199.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19054.hp1
NA19056.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+13652G>A
c.250+13652G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105862160
chr7:105862167 G
G
 C
C
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.250+13645C>G
c.250+13645C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105862167
chr7:105862183 C
C
 T
T
 1 a0001c0001t0035g0151
a0001c0001t0035g0151
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+13629G>A
c.250+13629G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105862183
chr7:105862363 C
C
 T
T
 11 a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
others(8): Show 
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0060g0192
 11 HG01074.hp1
HG01243.hp1
HG02056.hp1
others(8): Show 
HG01074.hp1
HG01243.hp1
HG02056.hp1
HG02135.hp1
HG02145.hp1
HG03209.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+13449G>A
c.250+13449G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105862363
chr7:105862364 G
G
 A
A
 1 a0001c0001t0022g0224
a0001c0001t0022g0224
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.250+13448C>T
c.250+13448C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105862364
chr7:105862841 C
C
 T
T
 1 a0001c0001t0002g0167
a0001c0001t0002g0167
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.250+12971G>A
c.250+12971G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105862841
chr7:105863081 A
A
 C
C
 1 a0003c0003t0020g0199
a0003c0003t0020g0199
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.250+12731T>G
c.250+12731T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105863081
chr7:105863089 C
C
 T
T
 170 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(167): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0016g0176
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0094
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0003c0003t0005g0079
a0005c0011t0008g0092
a0007c0009t0007g0096
 170 HG00280.hp2
HG00323.hp2
HG00558.hp1
others(167): Show 
HG00280.hp2
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19079.hp2
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+12723G>A
c.250+12723G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105863089
chr7:105863454 G
G
 A
A
 115 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(112): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0013g0156
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0019g0178
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
a0003c0003t0005g0079
 115 HG00280.hp2
HG00642.hp1
HG00642.hp2
others(112): Show 
HG00280.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02300.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp2
 intron_variant MODIFIER c.250+12358C>T
c.250+12358C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105863454
chr7:105863601 G
G
 A
A
 11 a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
others(8): Show 
a0001c0001t0002g0021
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0060g0192
 11 HG01074.hp1
HG01243.hp1
HG02056.hp1
others(8): Show 
HG01074.hp1
HG01243.hp1
HG02056.hp1
HG02135.hp1
HG02145.hp1
HG03209.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA19085.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+12211C>T
c.250+12211C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105863601
chr7:105863707 GAGCCTCA
others(28): Show 
GAGCCTCAGCTTCCCAATCTCTGAAATAGGGTTGAT
 G
G
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.250+12070_250+1210
others(39): Show 
c.250+12070_250+12104delATCAACCCTATTTCAGAGATTGGGAA
GCTGAGGCT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105863707
chr7:105863731 A
A
 G
G
 3 a0001c0001t0002g0142
a0001c0001t0009g0141
a0001c0001t0011g0143
a0001c0001t0002g0142
a0001c0001t0009g0141
a0001c0001t0011g0143
 3 NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
 intron_variant MODIFIER c.250+12081T>C
c.250+12081T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105863731
chr7:105863748 G
G
 C
C
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.250+12064C>G
c.250+12064C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105863748
chr7:105863754 C
C
 A
A
 7 a0001c0001t0002g0042
a0001c0001t0002g0167
a0001c0001t0003g0090
others(4): Show 
a0001c0001t0002g0042
a0001c0001t0002g0167
a0001c0001t0003g0090
a0001c0001t0010g0095
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0008t0014g0165
 7 HG00558.hp1
NA18948.hp2
NA18950.hp1
others(4): Show 
HG00558.hp1
NA18948.hp2
NA18950.hp1
NA18989.hp2
NA19000.hp1
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.250+12058G>T
c.250+12058G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105863754
chr7:105863755 C
C
 T
T
 48 a0001c0001t0001g0003
a0001c0001t0001g0119
a0001c0001t0001g0201
others(45): Show 
a0001c0001t0001g0003
a0001c0001t0001g0119
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0231
a0001c0001t0003g0071
a0001c0001t0003g0118
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0017g0113
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0032g0226
a0002c0002t0059g0200
a0006c0010t0031g0204
 48 HG00323.hp1
HG00738.hp2
HG00741.hp2
others(45): Show 
HG00323.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02735.hp2
HG02738.hp2
HG02895.hp1
HG03041.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
NA18747.hp1
NA18906.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.250+12057G>A
c.250+12057G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105863755
chr7:105863914 TAC
TAC
 T
T
 51 a0001c0001t0001g0003
a0001c0001t0001g0119
a0001c0001t0001g0201
others(48): Show 
a0001c0001t0001g0003
a0001c0001t0001g0119
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0231
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0118
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0032g0226
a0002c0002t0059g0200
a0006c0010t0031g0204
 51 HG00323.hp1
HG00738.hp2
HG00741.hp2
others(48): Show 
HG00323.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02735.hp2
HG02738.hp2
HG02895.hp1
HG03041.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.250+11896_250+1189
others(6): Show 
c.250+11896_250+11897delGT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105863914
chr7:105863961 A
A
 G
G
 1 a0001c0001t0002g0245
a0001c0001t0002g0245
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.250+11851T>C
c.250+11851T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105863961
chr7:105864184 G
G
 T
T
 1 a0001c0001t0008g0075
a0001c0001t0008g0075
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.250+11628C>A
c.250+11628C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864184
chr7:105864300 C
C
 CA
CA
 115 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(112): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0013g0156
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0019g0178
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
a0003c0003t0005g0079
 115 HG00280.hp2
HG00642.hp1
HG00642.hp2
others(112): Show 
HG00280.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02300.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp2
 intron_variant MODIFIER c.250+11511dupT
c.250+11511dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864300
chr7:105864342 T
T
 C
C
 115 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(112): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0050
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0100
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0216
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0013g0156
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0019g0178
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
a0003c0003t0005g0079
 115 HG00280.hp2
HG00642.hp1
HG00642.hp2
others(112): Show 
HG00280.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01346.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02280.hp2
HG02300.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19091.hp1
NA20129.hp2
 intron_variant MODIFIER c.250+11470A>G
c.250+11470A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864342
chr7:105864394 G
G
 A
A
 1 a0001c0001t0003g0238
a0001c0001t0003g0238
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.250+11418C>T
c.250+11418C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864394
chr7:105864444 G
G
 A
A
 62 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(59): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0222
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0024g0077
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0044g0110
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0004t0010g0154
a0003c0003t0005g0079
 62 HG00280.hp2
HG00642.hp1
HG00673.hp1
others(59): Show 
HG00280.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01981.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp2
HG02300.hp2
HG02572.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18943.hp1
NA18945.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19086.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.250+11368C>T
c.250+11368C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864444
chr7:105864456 C
C
 CA
CA
 77 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0033
others(74): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0016
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0118
a0001c0001t0004g0039
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0014
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0006g0034
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0009g0013
a0001c0001t0009g0054
a0001c0001t0010g0032
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0069
a0001c0001t0017g0113
a0001c0001t0017g0213
a0001c0001t0018g0131
a0001c0001t0019g0063
a0001c0001t0022g0224
a0001c0001t0024g0077
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0044g0110
a0001c0001t0048g0132
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0006t0001g0112
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0059g0200
a0003c0003t0020g0199
a0005c0011t0008g0092
 77 HG00323.hp1
HG00673.hp1
HG00738.hp2
others(74): Show 
HG00323.hp1
HG00673.hp1
HG00738.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02895.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18945.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19009.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19086.hp1
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+11355dupT
c.250+11355dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864456
chr7:105864456 C
C
 CAA
CAA
 50 a0001c0001t0001g0017
a0001c0001t0001g0080
a0001c0001t0001g0081
others(47): Show 
a0001c0001t0001g0017
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0004g0023
a0001c0001t0004g0084
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0067
a0001c0001t0008g0073
a0001c0001t0008g0216
a0001c0001t0009g0020
a0001c0001t0010g0228
a0001c0001t0012g0028
a0001c0001t0014g0083
a0001c0001t0015g0019
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0019g0062
a0001c0001t0020g0120
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0033g0040
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0055g0252
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0004t0010g0154
a0001c0005t0007g0209
a0002c0002t0032g0226
a0003c0003t0005g0079
a0006c0010t0031g0204
 50 HG00280.hp2
HG00741.hp2
HG01069.hp2
others(47): Show 
HG00280.hp2
HG00741.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp1
HG01981.hp1
HG02300.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02738.hp1
HG02738.hp2
HG03098.hp1
HG03098.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18950.hp2
NA19000.hp2
NA19030.hp1
NA19087.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.250+11354_250+1135
others(6): Show 
c.250+11354_250+11355dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864456
chr7:105864456 C
C
 CAAA
CAAA
 8 a0001c0001t0001g0009
a0001c0001t0003g0011
a0001c0001t0003g0086
others(5): Show 
a0001c0001t0001g0009
a0001c0001t0003g0011
a0001c0001t0003g0086
a0001c0001t0014g0038
a0001c0001t0041g0196
a0001c0001t0050g0155
a0001c0001t0063g0041
a0002c0002t0022g0066
 8 HG00642.hp1
HG02145.hp2
HG02602.hp2
others(5): Show 
HG00642.hp1
HG02145.hp2
HG02602.hp2
HG03225.hp1
HG03831.hp2
NA18943.hp1
NA18954.hp1
NA19030.hp2
 intron_variant MODIFIER c.250+11353_250+1135
others(7): Show 
c.250+11353_250+11355dupTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864456
chr7:105864456 CA
CA
 C
C
 68 a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
others(65): Show 
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0021
a0001c0001t0002g0048
a0001c0001t0002g0053
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0173
a0001c0001t0002g0179
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0007g0144
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0249
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0010g0093
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0023g0247
a0001c0001t0025g0104
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0032g0149
 68 HG00323.hp2
HG00558.hp1
HG00558.hp2
others(65): Show 
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp2
HG01978.hp2
HG02015.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG03130.hp2
HG03491.hp1
HG04199.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18962.hp1
NA18970.hp2
NA18989.hp1
NA19003.hp2
NA19005.hp2
NA19010.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19060.hp1
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp2
 intron_variant MODIFIER c.250+11355delT
c.250+11355delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864456
chr7:105864594 G
G
 T
T
 1 a0001c0001t0001g0009
a0001c0001t0001g0009
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.250+11218C>A
c.250+11218C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864594
chr7:105864656 C
C
 T
T
 1 a0001c0001t0012g0064
a0001c0001t0012g0064
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.250+11156G>A
c.250+11156G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864656
chr7:105864682 G
G
 A
A
 4 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(1): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0060g0192
 4 HG01074.hp1
HG01243.hp1
HG02145.hp1
others(1): Show 
HG01074.hp1
HG01243.hp1
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.250+11130C>T
c.250+11130C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864682
chr7:105864703 G
G
 A
A
 4 a0001c0001t0001g0222
a0001c0001t0016g0069
a0001c0001t0027g0134
others(1): Show 
a0001c0001t0001g0222
a0001c0001t0016g0069
a0001c0001t0027g0134
a0001c0001t0044g0110
 4 HG02280.hp2
HG02965.hp1
HG03130.hp1
others(1): Show 
HG02280.hp2
HG02965.hp1
HG03130.hp1
HG03139.hp1
 intron_variant MODIFIER c.250+11109C>T
c.250+11109C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864703
chr7:105864709 C
C
 T
T
 1 a0001c0005t0007g0209
a0001c0005t0007g0209
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.250+11103G>A
c.250+11103G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864709
chr7:105864771 C
C
 T
T
 2 a0001c0001t0056g0210
a0001c0005t0007g0209
a0001c0001t0056g0210
a0001c0005t0007g0209
 2 HG01891.hp1
HG03225.hp2
HG01891.hp1
HG03225.hp2
 intron_variant MODIFIER c.250+11041G>A
c.250+11041G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864771
chr7:105864862 C
C
 G
G
 5 a0001c0001t0001g0225
a0001c0001t0007g0223
a0001c0001t0013g0156
others(2): Show 
a0001c0001t0001g0225
a0001c0001t0007g0223
a0001c0001t0013g0156
a0001c0001t0022g0224
a0002c0002t0033g0221
 5 HG02055.hp1
HG02895.hp2
HG03516.hp1
others(2): Show 
HG02055.hp1
HG02895.hp2
HG03516.hp1
HG03540.hp2
NA18522.hp2
 intron_variant MODIFIER c.250+10950G>C
c.250+10950G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864862
chr7:105864881 C
C
 T
T
 2 a0001c0001t0002g0042
a0007c0009t0007g0096
a0001c0001t0002g0042
a0007c0009t0007g0096
 2 HG02630.hp2
NA18989.hp2
HG02630.hp2
NA18989.hp2
 intron_variant MODIFIER c.250+10931G>A
c.250+10931G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864881
chr7:105864926 T
T
 C
C
 1 a0001c0001t0002g0231
a0001c0001t0002g0231
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.250+10886A>G
c.250+10886A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105864926
chr7:105865053 C
C
 T
T
 1 a0001c0001t0041g0196
a0001c0001t0041g0196
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.250+10759G>A
c.250+10759G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865053
chr7:105865057 C
C
 A
A
 1 a0001c0001t0007g0144
a0001c0001t0007g0144
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.250+10755G>T
c.250+10755G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865057
chr7:105865065 G
G
 A
A
 2 a0001c0001t0004g0219
a0001c0001t0017g0213
a0001c0001t0004g0219
a0001c0001t0017g0213
 2 HG02630.hp1
HG02723.hp1
HG02630.hp1
HG02723.hp1
 intron_variant MODIFIER c.250+10747C>T
c.250+10747C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865065
chr7:105865404 CT
CT
 C
C
 70 a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0033
others(67): Show 
a0001c0001t0001g0005
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0222
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0177
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0248
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0197
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0012g0232
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0015g0019
a0001c0001t0015g0193
a0001c0001t0016g0069
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0041g0196
a0001c0001t0044g0110
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0004t0010g0154
a0003c0003t0005g0079
 70 HG00280.hp2
HG00642.hp1
HG00673.hp1
others(67): Show 
HG00280.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01168.hp2
HG01169.hp1
HG01243.hp1
HG01346.hp2
HG01516.hp2
HG01517.hp1
HG02056.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp2
HG02300.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02735.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19074.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+10407delA
c.250+10407delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865404
chr7:105865462 C
C
 T
T
 28 a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
others(25): Show 
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0050
a0001c0001t0003g0100
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0159
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0064g0098
a0001c0012t0003g0047
 28 HG00642.hp2
HG00735.hp2
HG01346.hp1
others(25): Show 
HG00642.hp2
HG00735.hp2
HG01346.hp1
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp2
HG03688.hp1
HG03942.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18954.hp2
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+10350G>A
c.250+10350G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865462
chr7:105865478 T
T
 C
C
 1 a0001c0001t0011g0143
a0001c0001t0011g0143
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.250+10334A>G
c.250+10334A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865478
chr7:105865544 G
G
 A
A
 1 a0001c0001t0013g0251
a0001c0001t0013g0251
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.250+10268C>T
c.250+10268C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865544
chr7:105865556 C
C
 T
T
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.250+10256G>A
c.250+10256G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865556
chr7:105865558 T
T
 C
C
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.250+10254A>G
c.250+10254A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865558
chr7:105865602 C
C
 T
T
 66 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(63): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0222
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0011g0157
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0024g0077
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0039g0180
a0001c0001t0044g0110
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0004t0010g0154
a0003c0003t0005g0079
 66 HG00280.hp2
HG00642.hp1
HG00673.hp1
others(63): Show 
HG00280.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01981.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02280.hp2
HG02300.hp2
HG02572.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18943.hp1
NA18945.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp2
NA19003.hp2
NA19009.hp1
NA19010.hp2
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19091.hp1
 intron_variant MODIFIER c.250+10210G>A
c.250+10210G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865602
chr7:105865636 C
C
 A
A
 6 a0001c0001t0001g0222
a0001c0001t0016g0069
a0001c0001t0027g0134
others(3): Show 
a0001c0001t0001g0222
a0001c0001t0016g0069
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0052g0133
 6 HG02280.hp2
HG02572.hp1
HG02965.hp1
others(3): Show 
HG02280.hp2
HG02572.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp1
HG03516.hp2
 intron_variant MODIFIER c.250+10176G>T
c.250+10176G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865636
chr7:105865643 T
T
 C
C
 6 a0001c0001t0001g0222
a0001c0001t0016g0069
a0001c0001t0027g0134
others(3): Show 
a0001c0001t0001g0222
a0001c0001t0016g0069
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0052g0133
 6 HG02280.hp2
HG02572.hp1
HG02965.hp1
others(3): Show 
HG02280.hp2
HG02572.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp1
HG03516.hp2
 intron_variant MODIFIER c.250+10169A>G
c.250+10169A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865643
chr7:105865644 G
G
 A
A
 6 a0001c0001t0001g0222
a0001c0001t0016g0069
a0001c0001t0027g0134
others(3): Show 
a0001c0001t0001g0222
a0001c0001t0016g0069
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0052g0133
 6 HG02280.hp2
HG02572.hp1
HG02965.hp1
others(3): Show 
HG02280.hp2
HG02572.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp1
HG03516.hp2
 intron_variant MODIFIER c.250+10168C>T
c.250+10168C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865644
chr7:105865830 C
C
 A
A
 54 a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
others(51): Show 
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0050
a0001c0001t0003g0100
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0013g0156
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0019g0178
a0001c0001t0022g0224
a0001c0001t0025g0104
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0043g0105
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0064g0098
a0001c0005t0007g0209
a0001c0012t0003g0047
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
 54 HG00642.hp2
HG00735.hp2
HG01346.hp1
others(51): Show 
HG00642.hp2
HG00735.hp2
HG01346.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp2
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03471.hp2
HG03516.hp1
HG03540.hp2
HG03688.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18954.hp2
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+9982G>T
c.250+9982G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865830
chr7:105865844 C
C
 T
T
 10 a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
others(7): Show 
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0060g0192
 10 HG01074.hp1
HG01243.hp1
HG02056.hp1
others(7): Show 
HG01074.hp1
HG01243.hp1
HG02056.hp1
HG02135.hp1
HG02145.hp1
HG03209.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+9968G>A
c.250+9968G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865844
chr7:105865876 C
C
 T
T
 1 a0001c0001t0007g0218
a0001c0001t0007g0218
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.250+9936G>A
c.250+9936G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105865876
chr7:105866148 G
G
 A
A
 1 a0001c0001t0001g0205
a0001c0001t0001g0205
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.250+9664C>T
c.250+9664C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105866148
chr7:105866231 A
A
 G
G
 4 a0001c0001t0001g0009
a0001c0001t0002g0010
a0001c0001t0003g0011
others(1): Show 
a0001c0001t0001g0009
a0001c0001t0002g0010
a0001c0001t0003g0011
a0001c0001t0009g0020
 4 HG01496.hp2
HG01981.hp1
NA18943.hp1
others(1): Show 
HG01496.hp2
HG01981.hp1
NA18943.hp1
NA18954.hp1
 intron_variant MODIFIER c.250+9581T>C
c.250+9581T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105866231
chr7:105866267 A
A
 G
G
 11 a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
others(8): Show 
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0003g0147
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0023g0183
a0001c0001t0049g0148
 11 HG00558.hp2
HG01099.hp1
HG02027.hp1
others(8): Show 
HG00558.hp2
HG01099.hp1
HG02027.hp1
HG02129.hp1
NA19009.hp2
NA19056.hp1
NA19068.hp2
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
 intron_variant MODIFIER c.250+9545T>C
c.250+9545T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105866267
chr7:105866270 G
G
 A
A
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.250+9542C>T
c.250+9542C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105866270
chr7:105866291 T
T
 C
C
 29 a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
others(26): Show 
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0050
a0001c0001t0003g0100
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0018g0046
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0064g0098
a0001c0012t0003g0047
 29 HG00642.hp2
HG00735.hp2
HG01346.hp1
others(26): Show 
HG00642.hp2
HG00735.hp2
HG01346.hp1
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp2
HG03688.hp1
HG03942.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18954.hp2
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+9521A>G
c.250+9521A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105866291
chr7:105866313 C
C
 T
T
 11 a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
others(8): Show 
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0053g0031
a0001c0001t0060g0192
 11 HG01074.hp1
HG01243.hp1
HG01884.hp2
others(8): Show 
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02056.hp1
HG02135.hp1
HG02145.hp1
HG03209.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+9499G>A
c.250+9499G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105866313
chr7:105866474 T
T
 C
C
 1 a0001c0001t0039g0180
a0001c0001t0039g0180
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.250+9338A>G
c.250+9338A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105866474
chr7:105866478 C
C
 T
T
 1 a0001c0001t0012g0122
a0001c0001t0012g0122
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.250+9334G>A
c.250+9334G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105866478
chr7:105866522 C
C
 T
T
 2 a0001c0001t0006g0197
a0001c0001t0041g0196
a0001c0001t0006g0197
a0001c0001t0041g0196
 2 HG02559.hp2
NA19030.hp2
HG02559.hp2
NA19030.hp2
 intron_variant MODIFIER c.250+9290G>A
c.250+9290G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105866522
chr7:105866582 C
C
 T
T
 2 a0001c0001t0006g0197
a0001c0001t0041g0196
a0001c0001t0006g0197
a0001c0001t0041g0196
 2 HG02559.hp2
NA19030.hp2
HG02559.hp2
NA19030.hp2
 intron_variant MODIFIER c.250+9230G>A
c.250+9230G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105866582
chr7:105866913 C
C
 A
A
 2 a0001c0001t0001g0145
a0001c0001t0013g0156
a0001c0001t0001g0145
a0001c0001t0013g0156
 2 HG02895.hp2
HG02896.hp1
HG02895.hp2
HG02896.hp1
 intron_variant MODIFIER c.250+8899G>T
c.250+8899G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105866913
chr7:105867103 G
G
 A
A
 2 a0001c0001t0001g0214
a0002c0002t0022g0220
a0001c0001t0001g0214
a0002c0002t0022g0220
 2 HG02723.hp2
HG06807.hp1
HG02723.hp2
HG06807.hp1
 intron_variant MODIFIER c.250+8709C>T
c.250+8709C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105867103
chr7:105867343 A
A
 C
C
 1 a0001c0012t0003g0047
a0001c0012t0003g0047
 1 NA19054.hp2
NA19054.hp2
 intron_variant MODIFIER c.250+8469T>G
c.250+8469T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105867343
chr7:105867552 T
T
 C
C
 1 a0001c0001t0025g0240
a0001c0001t0025g0240
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.250+8260A>G
c.250+8260A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105867552
chr7:105867712 A
A
 G
G
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.250+8100T>C
c.250+8100T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105867712
chr7:105867904 G
G
 A
A
 16 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(13): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0216
a0001c0001t0017g0213
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0056g0210
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
 16 HG01891.hp1
HG02055.hp2
HG02630.hp1
others(13): Show 
HG01891.hp1
HG02055.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.250+7908C>T
c.250+7908C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105867904
chr7:105868023 C
C
 G
G
 29 a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
others(26): Show 
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0050
a0001c0001t0003g0100
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0018g0046
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0064g0098
a0001c0012t0003g0047
 29 HG00642.hp2
HG00735.hp2
HG01346.hp1
others(26): Show 
HG00642.hp2
HG00735.hp2
HG01346.hp1
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp2
HG03688.hp1
HG03942.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18954.hp2
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+7789G>C
c.250+7789G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105868023
chr7:105868084 C
C
 T
T
 4 a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
others(1): Show 
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0060g0192
 4 HG01074.hp1
HG01243.hp1
HG02145.hp1
others(1): Show 
HG01074.hp1
HG01243.hp1
HG02145.hp1
HG03209.hp1
 intron_variant MODIFIER c.250+7728G>A
c.250+7728G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105868084
chr7:105868190 G
G
 T
T
 36 a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0001g0225
others(33): Show 
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0197
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0022g0224
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0045g0190
a0001c0001t0053g0031
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
 36 HG01074.hp1
HG01243.hp1
HG01884.hp2
others(33): Show 
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02135.hp1
HG02145.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03516.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA19003.hp1
NA19030.hp1
NA19030.hp2
NA19060.hp1
NA19074.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+7622C>A
c.250+7622C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105868190
chr7:105868191 G
G
 A
A
 1 a0001c0001t0009g0020
a0001c0001t0009g0020
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.250+7621C>T
c.250+7621C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105868191
chr7:105868222 C
C
 T
T
 6 a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
others(3): Show 
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 6 HG02056.hp1
HG02135.hp1
NA19003.hp1
others(3): Show 
HG02056.hp1
HG02135.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+7590G>A
c.250+7590G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105868222
chr7:105868273 G
G
 T
T
 2 a0001c0001t0010g0051
a0001c0001t0025g0104
a0001c0001t0010g0051
a0001c0001t0025g0104
 2 HG01516.hp1
HG03942.hp2
HG01516.hp1
HG03942.hp2
 intron_variant MODIFIER c.250+7539C>A
c.250+7539C>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105868273
chr7:105868341 G
G
 A
A
 11 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(8): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0017g0213
a0001c0001t0029g0215
a0001c0001t0040g0207
a0002c0002t0022g0220
a0002c0002t0030g0212
 11 HG02055.hp2
HG02630.hp1
HG02647.hp1
others(8): Show 
HG02055.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02965.hp2
HG03098.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.250+7471C>T
c.250+7471C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105868341
chr7:105868425 T
T
 C
C
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.250+7387A>G
c.250+7387A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105868425
chr7:105868698 T
T
 C
C
 1 a0001c0001t0004g0246
a0001c0001t0004g0246
 1 NA19003.hp1
NA19003.hp1
 intron_variant MODIFIER c.250+7114A>G
c.250+7114A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105868698
chr7:105868724 T
T
 A
A
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.250+7088A>T
c.250+7088A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105868724
chr7:105868736 C
C
 T
T
 1 a0001c0001t0007g0218
a0001c0001t0007g0218
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.250+7076G>A
c.250+7076G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105868736
chr7:105868783 G
G
 A
A
 1 a0001c0001t0002g0021
a0001c0001t0002g0021
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.250+7029C>T
c.250+7029C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105868783
chr7:105868889 T
T
 C
C
 68 a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0163
others(65): Show 
a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0005g0159
a0001c0001t0006g0168
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0052
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0049g0148
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0032g0149
a0004c0013t0036g0107
a0005c0011t0008g0092
 68 HG00280.hp1
HG00323.hp2
HG00558.hp1
others(65): Show 
HG00280.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02818.hp2
HG03130.hp2
HG03490.hp1
HG03491.hp1
HG04199.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19054.hp1
NA19056.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+6923A>G
c.250+6923A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105868889
chr7:105868950 G
G
 A
A
 28 a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0001g0225
others(25): Show 
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0006g0197
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
 28 HG01074.hp1
HG01243.hp1
HG01891.hp1
others(25): Show 
HG01074.hp1
HG01243.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03516.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.250+6862C>T
c.250+6862C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105868950
chr7:105869171 C
C
 T
T
 1 a0001c0001t0002g0245
a0001c0001t0002g0245
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.250+6641G>A
c.250+6641G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105869171
chr7:105869378 A
A
 C
C
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.250+6434T>G
c.250+6434T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105869378
chr7:105869412 C
C
 T
T
 6 a0001c0001t0002g0231
a0001c0001t0005g0182
a0001c0001t0006g0067
others(3): Show 
a0001c0001t0002g0231
a0001c0001t0005g0182
a0001c0001t0006g0067
a0001c0001t0012g0115
a0001c0001t0016g0061
a0001c0001t0019g0062
 6 HG00323.hp1
HG00741.hp2
HG01175.hp2
others(3): Show 
HG00323.hp1
HG00741.hp2
HG01175.hp2
HG01433.hp2
HG01943.hp1
HG01952.hp1
 intron_variant MODIFIER c.250+6400G>A
c.250+6400G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105869412
chr7:105869468 A
A
 AGGGGGGG
others(29): Show 
AGGGGGGGGGAAGGGGGGGGGGGGGGGGGGGGGGGGG
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.250+6343_250+6344i
others(38): Show 
c.250+6343_250+6344insCCCCCCCCCCCCCCCCCCCCCCCCCTTC
CCCCCCCC
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105869468
chr7:105869470 A
A
 G
G
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.250+6342T>C
c.250+6342T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105869470
chr7:105869474 C
C
 A
A
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.250+6338G>T
c.250+6338G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105869474
chr7:105869638 G
G
 C
C
 22 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(19): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0006g0197
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0216
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
 22 HG01074.hp1
HG01243.hp1
HG01891.hp1
others(19): Show 
HG01074.hp1
HG01243.hp1
HG01891.hp1
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.250+6174C>G
c.250+6174C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105869638
chr7:105869834 T
T
 G
G
 29 a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0214
others(26): Show 
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0006g0197
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
 29 HG01074.hp1
HG01243.hp1
HG01891.hp1
others(26): Show 
HG01074.hp1
HG01243.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02145.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03516.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.250+5978A>C
c.250+5978A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105869834
chr7:105869944 T
T
 C
C
 3 a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0003g0235
a0001c0001t0013g0241
a0001c0001t0013g0242
 3 HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01256.hp2
HG01258.hp2
HG01496.hp1
 intron_variant MODIFIER c.250+5868A>G
c.250+5868A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105869944
chr7:105869969 T
T
 C
C
 29 a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
others(26): Show 
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0050
a0001c0001t0003g0100
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0064g0098
a0001c0012t0003g0047
 29 HG00642.hp2
HG01346.hp1
HG01516.hp1
others(26): Show 
HG00642.hp2
HG01346.hp1
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp2
HG02572.hp2
HG03688.hp1
HG03942.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18954.hp2
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+5843A>G
c.250+5843A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105869969
chr7:105870004 G
G
 A
A
 8 a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0012g0052
others(5): Show 
a0001c0001t0001g0108
a0001c0001t0006g0168
a0001c0001t0012g0052
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0020g0169
a0001c0001t0031g0172
a0004c0013t0036g0107
 8 HG00280.hp1
HG00735.hp2
HG00741.hp1
others(5): Show 
HG00280.hp1
HG00735.hp2
HG00741.hp1
HG01175.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
 intron_variant MODIFIER c.250+5808C>T
c.250+5808C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105870004
chr7:105870047 C
C
 T
T
 5 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0147
others(2): Show 
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0147
a0001c0001t0009g0146
a0001c0001t0014g0038
 5 HG00642.hp1
HG01081.hp1
HG03831.hp2
others(2): Show 
HG00642.hp1
HG01081.hp1
HG03831.hp2
NA19068.hp2
NA19087.hp2
 intron_variant MODIFIER c.250+5765G>A
c.250+5765G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105870047
chr7:105870089 G
G
 A
A
 13 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(10): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0017g0213
a0001c0001t0029g0215
a0001c0001t0040g0207
a0001c0001t0056g0210
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0030g0212
 13 HG01891.hp1
HG02055.hp2
HG02630.hp1
others(10): Show 
HG01891.hp1
HG02055.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02965.hp2
HG03098.hp2
HG03225.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.250+5723C>T
c.250+5723C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105870089
chr7:105870093 A
A
 G
G
 1 a0001c0001t0039g0180
a0001c0001t0039g0180
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.250+5719T>C
c.250+5719T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105870093
chr7:105870154 T
T
 C
C
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+5658A>G
c.250+5658A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105870154
chr7:105870281 CA
CA
 C
C
 236 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(233): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 236 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(233): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+5530delT
c.250+5530delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105870281
chr7:105870281 CAA
CAA
 C
C
 7 a0001c0001t0003g0235
a0001c0001t0007g0217
a0001c0001t0008g0073
others(4): Show 
a0001c0001t0003g0235
a0001c0001t0007g0217
a0001c0001t0008g0073
a0001c0001t0009g0146
a0001c0001t0019g0178
a0001c0007t0038g0158
a0002c0002t0033g0221
 7 HG01168.hp2
HG01256.hp2
HG01934.hp1
others(4): Show 
HG01168.hp2
HG01256.hp2
HG01934.hp1
HG01943.hp2
HG02965.hp2
HG03540.hp2
NA19087.hp2
 intron_variant MODIFIER c.250+5529_250+5530d
others(4): Show 
c.250+5529_250+5530delTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105870281
chr7:105870890 C
C
 T
T
 1 a0001c0001t0028g0114
a0001c0001t0028g0114
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.250+4922G>A
c.250+4922G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105870890
chr7:105870898 G
G
 A
A
 29 a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
others(26): Show 
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0050
a0001c0001t0003g0100
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0018g0046
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0064g0098
a0001c0012t0003g0047
 29 HG00642.hp2
HG00735.hp2
HG01346.hp1
others(26): Show 
HG00642.hp2
HG00735.hp2
HG01346.hp1
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp2
HG03688.hp1
HG03942.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18954.hp2
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+4914C>T
c.250+4914C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105870898
chr7:105871022 T
T
 C
C
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.250+4790A>G
c.250+4790A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871022
chr7:105871084 G
G
 GT
GT
 49 a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0145
others(46): Show 
a0001c0001t0001g0078
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0002g0153
a0001c0001t0002g0231
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0118
a0001c0001t0003g0171
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0005g0182
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0152
a0001c0001t0012g0052
a0001c0001t0012g0115
a0001c0001t0013g0156
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0021g0227
a0001c0001t0024g0077
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0039g0180
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0055g0252
a0001c0001t0062g0007
a0001c0006t0001g0112
a0002c0002t0022g0066
a0002c0002t0032g0226
a0002c0002t0059g0200
a0006c0010t0031g0204
 49 HG00323.hp1
HG00558.hp2
HG00673.hp1
others(46): Show 
HG00323.hp1
HG00558.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01884.hp1
HG01943.hp1
HG01952.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG03041.hp1
HG03098.hp1
HG03225.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA19000.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.250+4727dupA
c.250+4727dupA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871084
chr7:105871084 G
G
 GTT
GTT
 79 a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0163
others(76): Show 
a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0159
a0001c0001t0006g0168
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0143
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0166
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0025g0240
a0001c0001t0035g0151
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0049g0148
a0001c0001t0054g0087
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0033g0221
a0004c0013t0036g0107
a0005c0011t0008g0092
 79 HG00280.hp1
HG00323.hp2
HG00558.hp1
others(76): Show 
HG00280.hp1
HG00323.hp2
HG00558.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp2
HG02280.hp2
HG02523.hp1
HG02630.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02896.hp2
HG03041.hp2
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19010.hp1
NA19030.hp2
NA19054.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+4726_250+4727d
others(4): Show 
c.250+4726_250+4727dupAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871084
chr7:105871084 G
G
 GTTT
GTTT
 16 a0001c0001t0004g0246
a0001c0001t0005g0206
a0001c0001t0005g0248
others(13): Show 
a0001c0001t0004g0246
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0011g0157
a0001c0001t0013g0251
a0001c0001t0014g0233
a0001c0001t0016g0176
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0026g0234
a0001c0001t0029g0215
a0001c0001t0040g0207
a0001c0001t0053g0031
 16 HG01192.hp2
HG01884.hp2
HG01952.hp2
others(13): Show 
HG01192.hp2
HG01884.hp2
HG01952.hp2
HG02055.hp2
HG02056.hp1
HG02135.hp1
HG02148.hp2
HG02647.hp1
HG02965.hp2
HG03098.hp2
NA19003.hp1
NA19003.hp2
NA19030.hp1
NA19060.hp1
NA19074.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+4725_250+4727d
others(5): Show 
c.250+4725_250+4727dupAAA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871084
chr7:105871084 GT
GT
 G
G
 6 a0001c0001t0001g0003
a0001c0001t0008g0073
a0001c0001t0010g0051
others(3): Show 
a0001c0001t0001g0003
a0001c0001t0008g0073
a0001c0001t0010g0051
a0001c0001t0013g0129
a0001c0001t0025g0104
a0001c0001t0028g0037
 6 HG01168.hp2
HG01516.hp1
HG02735.hp1
others(3): Show 
HG01168.hp2
HG01516.hp1
HG02735.hp1
HG02735.hp2
HG03669.hp2
HG03942.hp2
 intron_variant MODIFIER c.250+4727delA
c.250+4727delA
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871084
chr7:105871194 G
G
 A
A
 10 a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0004g0203
others(7): Show 
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0010g0228
a0001c0001t0021g0227
a0001c0001t0055g0252
a0002c0002t0032g0226
a0002c0002t0059g0200
a0006c0010t0031g0204
 10 HG01074.hp2
HG01884.hp1
HG02451.hp2
others(7): Show 
HG01074.hp2
HG01884.hp1
HG02451.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02895.hp1
HG03041.hp1
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.250+4618C>T
c.250+4618C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871194
chr7:105871214 T
T
 C
C
 116 a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0145
others(113): Show 
a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 116 HG00280.hp1
HG00323.hp2
HG00558.hp1
others(113): Show 
HG00280.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+4598A>G
c.250+4598A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871214
chr7:105871232 A
A
 T
T
 5 a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0007g0223
others(2): Show 
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0007g0223
a0001c0001t0022g0224
a0002c0002t0033g0221
 5 HG02055.hp1
HG02280.hp2
HG03516.hp1
others(2): Show 
HG02055.hp1
HG02280.hp2
HG03516.hp1
HG03540.hp2
NA18522.hp2
 intron_variant MODIFIER c.250+4580T>A
c.250+4580T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871232
chr7:105871289 T
T
 C
C
 1 a0001c0001t0007g0217
a0001c0001t0007g0217
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.250+4523A>G
c.250+4523A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871289
chr7:105871308 G
G
 A
A
 30 a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
others(27): Show 
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0050
a0001c0001t0003g0100
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0043g0105
a0001c0001t0064g0098
a0001c0012t0003g0047
 30 HG00642.hp2
HG00735.hp2
HG01346.hp1
others(27): Show 
HG00642.hp2
HG00735.hp2
HG01346.hp1
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp2
HG02572.hp2
HG03688.hp1
HG03942.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18954.hp2
NA18989.hp1
NA19005.hp1
NA19005.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+4504C>T
c.250+4504C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871308
chr7:105871422 G
G
 C
C
 1 a0001c0001t0023g0183
a0001c0001t0023g0183
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.250+4390C>G
c.250+4390C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871422
chr7:105871579 G
G
 A
A
 40 a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
others(37): Show 
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0010g0228
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0006c0010t0031g0204
 40 HG01074.hp1
HG01074.hp2
HG01243.hp1
others(37): Show 
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.250+4233C>T
c.250+4233C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871579
chr7:105871671 T
T
 C
C
 41 a0001c0001t0001g0003
a0001c0001t0001g0119
a0001c0001t0002g0231
others(38): Show 
a0001c0001t0001g0003
a0001c0001t0001g0119
a0001c0001t0002g0231
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0118
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0010g0111
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0037g0065
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0006t0001g0112
a0002c0002t0022g0066
 41 HG00323.hp1
HG00738.hp2
HG00741.hp2
others(38): Show 
HG00323.hp1
HG00738.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02280.hp1
HG02451.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02735.hp2
HG02738.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.250+4141A>G
c.250+4141A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871671
chr7:105871697 C
C
 T
T
 3 a0001c0001t0001g0108
a0001c0001t0015g0060
a0004c0013t0036g0107
a0001c0001t0001g0108
a0001c0001t0015g0060
a0004c0013t0036g0107
 3 HG00280.hp1
HG01175.hp1
HG01261.hp1
HG00280.hp1
HG01175.hp1
HG01261.hp1
 intron_variant MODIFIER c.250+4115G>A
c.250+4115G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871697
chr7:105871698 G
G
 A
A
 2 a0001c0001t0007g0218
a0001c0001t0039g0180
a0001c0001t0007g0218
a0001c0001t0039g0180
 2 HG03041.hp2
HG03098.hp1
HG03041.hp2
HG03098.hp1
 intron_variant MODIFIER c.250+4114C>T
c.250+4114C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871698
chr7:105871710 C
C
 CA
CA
 35 a0001c0001t0001g0059
a0001c0001t0001g0102
a0001c0001t0001g0106
others(32): Show 
a0001c0001t0001g0059
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0050
a0001c0001t0003g0100
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0007g0057
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0014g0038
a0001c0001t0018g0058
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0021g0130
a0001c0001t0025g0104
a0001c0001t0026g0189
a0001c0001t0034g0068
a0001c0001t0043g0105
a0001c0001t0062g0007
a0001c0012t0003g0047
a0002c0002t0022g0066
 35 HG00642.hp2
HG00735.hp2
HG01109.hp1
others(32): Show 
HG00642.hp2
HG00735.hp2
HG01109.hp1
HG01346.hp1
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02132.hp1
HG02155.hp2
HG02572.hp1
HG02572.hp2
HG02738.hp1
HG03225.hp1
HG03831.hp2
HG03942.hp2
NA18747.hp1
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18954.hp2
NA18989.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp2
NA19086.hp2
NA19240.hp2
 intron_variant MODIFIER c.250+4101dupT
c.250+4101dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871710
chr7:105871710 CA
CA
 C
C
 117 a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0145
others(114): Show 
a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0024g0250
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0049g0148
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 117 HG00280.hp1
HG00323.hp2
HG00558.hp1
others(114): Show 
HG00280.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+4101delT
c.250+4101delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871710
chr7:105871772 T
T
 C
C
 16 a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
others(13): Show 
a0001c0001t0001g0214
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0216
a0001c0001t0017g0213
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0056g0210
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
 16 HG01891.hp1
HG02055.hp2
HG02630.hp1
others(13): Show 
HG01891.hp1
HG02055.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.250+4040A>G
c.250+4040A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871772
chr7:105871832 T
T
 C
C
 3 a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
a0001c0001t0007g0217
a0001c0001t0008g0216
a0001c0001t0029g0215
 3 HG02647.hp1
HG02965.hp2
NA19030.hp1
HG02647.hp1
HG02965.hp2
NA19030.hp1
 intron_variant MODIFIER c.250+3980A>G
c.250+3980A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871832
chr7:105871837 T
T
 C
C
 27 a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
others(24): Show 
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0006g0197
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0033g0221
 27 HG01074.hp1
HG01243.hp1
HG01891.hp1
others(24): Show 
HG01074.hp1
HG01243.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02145.hp1
HG02280.hp2
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03516.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.250+3975A>G
c.250+3975A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871837
chr7:105871868 A
A
 C
C
 3 a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
 3 NA18945.hp1
NA18994.hp2
NA19091.hp1
NA18945.hp1
NA18994.hp2
NA19091.hp1
 intron_variant MODIFIER c.250+3944T>G
c.250+3944T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871868
chr7:105871964 T
T
 C
C
 1 a0001c0001t0018g0058
a0001c0001t0018g0058
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.250+3848A>G
c.250+3848A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871964
chr7:105871967 T
T
 C
C
 60 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(57): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0005g0014
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0010g0032
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0015g0019
a0001c0001t0016g0069
a0001c0001t0024g0077
a0001c0001t0026g0189
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0004t0010g0154
a0003c0003t0005g0079
 60 HG00280.hp2
HG00642.hp1
HG00673.hp1
others(57): Show 
HG00280.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01346.hp2
HG01496.hp2
HG01516.hp2
HG01517.hp1
HG01981.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02300.hp2
HG02572.hp1
HG02602.hp2
HG02735.hp1
HG02738.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp2
HG03516.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18943.hp1
NA18945.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19000.hp2
NA19009.hp1
NA19010.hp2
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19091.hp1
NA20129.hp2
 intron_variant MODIFIER c.250+3845A>G
c.250+3845A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871967
chr7:105871999 T
T
 G
G
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.250+3813A>C
c.250+3813A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105871999
chr7:105872001 T
T
 G
G
 1 a0001c0001t0048g0132
a0001c0001t0048g0132
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.250+3811A>C
c.250+3811A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872001
chr7:105872027 C
C
 T
T
 13 a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
others(10): Show 
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0004g0203
a0001c0001t0007g0202
a0001c0001t0010g0228
a0001c0001t0013g0156
a0001c0001t0021g0227
a0001c0001t0055g0252
a0002c0002t0032g0226
a0002c0002t0059g0200
a0006c0010t0031g0204
 13 HG01074.hp2
HG01884.hp1
HG02451.hp2
others(10): Show 
HG01074.hp2
HG01884.hp1
HG02451.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG03041.hp1
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.250+3785G>A
c.250+3785G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872027
chr7:105872061 T
T
 C
C
 116 a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0145
others(113): Show 
a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 116 HG00280.hp1
HG00323.hp2
HG00558.hp1
others(113): Show 
HG00280.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+3751A>G
c.250+3751A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872061
chr7:105872182 T
T
 C
C
 115 a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0145
others(112): Show 
a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0228
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0193
a0001c0001t0016g0176
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0045g0190
a0001c0001t0049g0148
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0060g0192
a0001c0005t0007g0209
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 115 HG00280.hp1
HG00323.hp2
HG00558.hp1
others(112): Show 
HG00280.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+3630A>G
c.250+3630A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872182
chr7:105872249 C
C
 G
G
 40 a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
others(37): Show 
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0010g0228
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0006c0010t0031g0204
 40 HG01074.hp1
HG01074.hp2
HG01243.hp1
others(37): Show 
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.250+3563G>C
c.250+3563G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872249
chr7:105872278 C
C
 T
T
 1 a0001c0001t0034g0068
a0001c0001t0034g0068
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.250+3534G>A
c.250+3534G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872278
chr7:105872323 G
G
 A
A
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.250+3489C>T
c.250+3489C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872323
chr7:105872325 C
C
 T
T
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+3487G>A
c.250+3487G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872325
chr7:105872355 A
A
 G
G
 5 a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0007g0223
others(2): Show 
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0007g0223
a0001c0001t0022g0224
a0002c0002t0033g0221
 5 HG02055.hp1
HG02280.hp2
HG03516.hp1
others(2): Show 
HG02055.hp1
HG02280.hp2
HG03516.hp1
HG03540.hp2
NA18522.hp2
 intron_variant MODIFIER c.250+3457T>C
c.250+3457T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872355
chr7:105872422 T
T
 A
A
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.250+3390A>T
c.250+3390A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872422
chr7:105872434 G
G
 A
A
 2 a0001c0001t0012g0244
a0001c0001t0013g0243
a0001c0001t0012g0244
a0001c0001t0013g0243
 2 HG01243.hp2
HG01515.hp1
HG01243.hp2
HG01515.hp1
 intron_variant MODIFIER c.250+3378C>T
c.250+3378C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872434
chr7:105872457 T
T
 C
C
 1 a0001c0001t0002g0173
a0001c0001t0002g0173
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.250+3355A>G
c.250+3355A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872457
chr7:105872545 G
G
 A
A
 1 a0001c0001t0006g0197
a0001c0001t0006g0197
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.250+3267C>T
c.250+3267C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872545
chr7:105872744 T
T
 C
C
 2 a0001c0001t0001g0145
a0001c0001t0013g0156
a0001c0001t0001g0145
a0001c0001t0013g0156
 2 HG02895.hp2
HG02896.hp1
HG02895.hp2
HG02896.hp1
 intron_variant MODIFIER c.250+3068A>G
c.250+3068A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872744
chr7:105872840 C
C
 CA
CA
 10 a0001c0001t0001g0005
a0001c0001t0001g0145
a0001c0001t0005g0248
others(7): Show 
a0001c0001t0001g0005
a0001c0001t0001g0145
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0067
a0001c0001t0010g0095
a0001c0001t0013g0156
a0001c0001t0016g0176
a0001c0001t0019g0230
a0003c0003t0020g0199
 10 HG01109.hp2
HG01175.hp2
HG01192.hp2
others(7): Show 
HG01109.hp2
HG01175.hp2
HG01192.hp2
HG01358.hp1
HG02738.hp1
HG02895.hp2
HG02896.hp1
NA18994.hp1
NA19000.hp1
NA19060.hp1
 intron_variant MODIFIER c.250+2971dupT
c.250+2971dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872840
chr7:105872840 C
C
 T
T
 1 a0001c0001t0002g0177
a0001c0001t0002g0177
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.250+2972G>A
c.250+2972G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872840
chr7:105872874 G
G
 A
A
 2 a0001c0001t0007g0218
a0001c0001t0039g0180
a0001c0001t0007g0218
a0001c0001t0039g0180
 2 HG03041.hp2
HG03098.hp1
HG03041.hp2
HG03098.hp1
 intron_variant MODIFIER c.250+2938C>T
c.250+2938C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872874
chr7:105872882 C
C
 T
T
 1 a0001c0001t0010g0111
a0001c0001t0010g0111
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.250+2930G>A
c.250+2930G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872882
chr7:105872890 C
C
 T
T
 2 a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0076
a0001c0001t0003g0086
 2 HG00642.hp1
HG01081.hp1
HG00642.hp1
HG01081.hp1
 intron_variant MODIFIER c.250+2922G>A
c.250+2922G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872890
chr7:105872926 G
G
 A
A
 40 a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
others(37): Show 
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0005g0206
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0216
a0001c0001t0010g0228
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0060g0192
a0001c0005t0007g0209
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0006c0010t0031g0204
 40 HG01074.hp1
HG01074.hp2
HG01243.hp1
others(37): Show 
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.250+2886C>T
c.250+2886C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105872926
chr7:105873023 G
G
 A
A
 2 a0001c0001t0009g0054
a0001c0001t0018g0058
a0001c0001t0009g0054
a0001c0001t0018g0058
 2 HG02572.hp2
NA18995.hp1
HG02572.hp2
NA18995.hp1
 intron_variant MODIFIER c.250+2789C>T
c.250+2789C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105873023
chr7:105873156 AAAAAC
AAAAAC
 A
A
 247 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(244): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 247 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(244): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+2651_250+2655d
others(7): Show 
c.250+2651_250+2655delGTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105873156
chr7:105873175 A
A
 G
G
 1 a0001c0001t0013g0156
a0001c0001t0013g0156
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.250+2637T>C
c.250+2637T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105873175
chr7:105873529 C
C
 T
T
 26 a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
others(23): Show 
a0001c0001t0001g0145
a0001c0001t0001g0181
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0004g0203
a0001c0001t0006g0197
a0001c0001t0007g0202
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0010g0228
a0001c0001t0013g0156
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0039g0180
a0001c0001t0041g0196
a0001c0001t0055g0252
a0001c0001t0060g0192
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0006c0010t0031g0204
 26 HG01074.hp1
HG01074.hp2
HG01243.hp1
others(23): Show 
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01884.hp1
HG02055.hp1
HG02145.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
NA18522.hp2
NA19030.hp2
 intron_variant MODIFIER c.250+2283G>A
c.250+2283G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105873529
chr7:105873746 G
G
 A
A
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.250+2066C>T
c.250+2066C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105873746
chr7:105873783 T
T
 A
A
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+2029A>T
c.250+2029A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105873783
chr7:105873919 G
G
 A
A
 1 a0001c0001t0012g0052
a0001c0001t0012g0052
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.250+1893C>T
c.250+1893C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105873919
chr7:105873930 T
T
 C
C
 1 a0001c0001t0002g0053
a0001c0001t0002g0053
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.250+1882A>G
c.250+1882A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105873930
chr7:105873954 G
G
 A
A
 1 a0001c0001t0007g0218
a0001c0001t0007g0218
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.250+1858C>T
c.250+1858C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105873954
chr7:105874002 G
G
 A
A
 77 a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0145
others(74): Show 
a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0246
a0001c0001t0005g0159
a0001c0001t0005g0248
a0001c0001t0006g0168
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0019g0230
a0001c0001t0020g0169
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0250
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0042g0161
a0001c0001t0049g0148
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0032g0149
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 77 HG00280.hp1
HG00323.hp2
HG00558.hp1
others(74): Show 
HG00280.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01884.hp2
HG01943.hp2
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02056.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02148.hp2
HG02165.hp2
HG02300.hp1
HG02523.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG03130.hp2
HG03490.hp1
HG03491.hp1
HG04199.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp2
NA19010.hp1
NA19054.hp1
NA19056.hp1
NA19060.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+1810C>T
c.250+1810C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874002
chr7:105874050 G
G
 A
A
 5 a0001c0001t0016g0069
a0001c0001t0027g0134
a0001c0001t0034g0068
others(2): Show 
a0001c0001t0016g0069
a0001c0001t0027g0134
a0001c0001t0034g0068
a0001c0001t0044g0110
a0001c0001t0052g0133
 5 HG02572.hp1
HG02965.hp1
HG03130.hp1
others(2): Show 
HG02572.hp1
HG02965.hp1
HG03130.hp1
HG03139.hp1
HG03516.hp2
 intron_variant MODIFIER c.250+1762C>T
c.250+1762C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874050
chr7:105874123 C
C
 CA
CA
 93 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(90): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0174
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0225
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0056
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0004g0084
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0005g0014
a0001c0001t0005g0206
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0008g0015
a0001c0001t0008g0073
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0010g0032
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0012
a0001c0001t0012g0028
a0001c0001t0013g0156
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0015g0019
a0001c0001t0015g0109
a0001c0001t0015g0140
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0213
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0026g0189
a0001c0001t0028g0037
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0046g0138
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0004t0010g0154
a0001c0005t0007g0209
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0059g0200
a0003c0003t0005g0079
a0006c0010t0031g0204
 93 HG00280.hp2
HG00673.hp1
HG01069.hp2
others(90): Show 
HG00280.hp2
HG00673.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp2
HG01256.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02155.hp1
HG02165.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04199.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18945.hp1
NA18950.hp2
NA18954.hp1
NA18957.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA19000.hp1
NA19005.hp1
NA19009.hp1
NA19030.hp1
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19074.hp2
NA19085.hp1
NA19086.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.250+1688dupT
c.250+1688dupT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874123
chr7:105874123 C
C
 CAA
CAA
 14 a0001c0001t0001g0059
a0001c0001t0003g0006
a0001c0001t0003g0086
others(11): Show 
a0001c0001t0001g0059
a0001c0001t0003g0006
a0001c0001t0003g0086
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0219
a0001c0001t0006g0024
a0001c0001t0010g0228
a0001c0001t0021g0227
a0001c0001t0033g0040
a0001c0001t0062g0007
a0001c0001t0063g0041
a0002c0002t0022g0220
a0002c0002t0032g0226
 14 HG00642.hp1
HG00642.hp2
HG01074.hp2
others(11): Show 
HG00642.hp1
HG00642.hp2
HG01074.hp2
HG01081.hp2
HG02145.hp2
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG03540.hp1
HG04199.hp2
NA19000.hp2
NA19010.hp2
NA19086.hp1
NA19087.hp1
 intron_variant MODIFIER c.250+1687_250+1688d
others(4): Show 
c.250+1687_250+1688dupTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874123
chr7:105874123 CA
CA
 C
C
 8 a0001c0001t0002g0142
a0001c0001t0004g0246
a0001c0001t0009g0097
others(5): Show 
a0001c0001t0002g0142
a0001c0001t0004g0246
a0001c0001t0009g0097
a0001c0001t0009g0141
a0001c0001t0011g0143
a0001c0001t0012g0232
a0001c0001t0023g0183
a0001c0001t0044g0110
 8 HG01167.hp1
HG01346.hp1
HG02027.hp1
others(5): Show 
HG01167.hp1
HG01346.hp1
HG02027.hp1
HG02965.hp1
NA19003.hp1
NA19074.hp1
NA19088.hp2
NA19091.hp2
 intron_variant MODIFIER c.250+1688delT
c.250+1688delT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874123
chr7:105874123 CAAAAAA
CAAAAAA
 C
C
 6 a0001c0001t0006g0197
a0001c0001t0015g0193
a0001c0001t0017g0194
others(3): Show 
a0001c0001t0006g0197
a0001c0001t0015g0193
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0041g0196
a0001c0001t0060g0192
 6 HG01074.hp1
HG01243.hp1
HG02145.hp1
others(3): Show 
HG01074.hp1
HG01243.hp1
HG02145.hp1
HG02559.hp2
HG03209.hp1
NA19030.hp2
 intron_variant MODIFIER c.250+1683_250+1688d
others(8): Show 
c.250+1683_250+1688delTTTTTT
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874123
chr7:105874195 T
T
 C
C
 36 a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0163
others(33): Show 
a0001c0001t0001g0088
a0001c0001t0001g0108
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0002g0002
a0001c0001t0002g0042
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0003g0043
a0001c0001t0003g0090
a0001c0001t0003g0171
a0001c0001t0005g0159
a0001c0001t0006g0168
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0014g0166
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0016g0176
a0001c0001t0018g0094
a0001c0001t0020g0169
a0001c0001t0031g0172
a0001c0001t0042g0161
a0001c0001t0054g0087
a0001c0007t0038g0158
a0001c0008t0014g0165
a0004c0013t0036g0107
a0005c0011t0008g0092
 36 HG00280.hp1
HG00558.hp1
HG00673.hp2
others(33): Show 
HG00280.hp1
HG00558.hp1
HG00673.hp2
HG00741.hp1
HG01175.hp1
HG01192.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02165.hp2
HG02300.hp1
HG02523.hp1
NA18948.hp2
NA18950.hp1
NA18962.hp1
NA18970.hp2
NA18989.hp2
NA18995.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19054.hp1
NA19067.hp2
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.250+1617A>G
c.250+1617A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874195
chr7:105874249 G
G
 A
A
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+1563C>T
c.250+1563C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874249
chr7:105874257 C
C
 T
T
 6 a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
others(3): Show 
a0001c0001t0001g0005
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0062g0007
 6 NA18957.hp1
NA18971.hp2
NA18994.hp1
others(3): Show 
NA18957.hp1
NA18971.hp2
NA18994.hp1
NA19000.hp2
NA19009.hp1
NA19010.hp2
 intron_variant MODIFIER c.250+1555G>A
c.250+1555G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874257
chr7:105874350 G
G
 A
A
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+1462C>T
c.250+1462C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874350
chr7:105874351 T
T
 C
C
 1 a0001c0001t0001g0044
a0001c0001t0001g0044
 1 NA19056.hp2
NA19056.hp2
 intron_variant MODIFIER c.250+1461A>G
c.250+1461A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874351
chr7:105874373 G
G
 A
A
 1 a0001c0001t0045g0190
a0001c0001t0045g0190
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.250+1439C>T
c.250+1439C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874373
chr7:105874531 C
C
 A
A
 251 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(248): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0201
a0001c0001t0001g0205
a0001c0001t0001g0214
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0198
a0001c0001t0004g0203
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0206
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0006g0197
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0007g0202
a0001c0001t0007g0217
a0001c0001t0007g0218
a0001c0001t0007g0223
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0216
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0010g0228
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0015g0193
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0017g0194
a0001c0001t0017g0195
a0001c0001t0017g0213
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0021g0227
a0001c0001t0022g0224
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0029g0215
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0040g0207
a0001c0001t0041g0196
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0055g0252
a0001c0001t0056g0210
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0060g0192
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0005t0007g0209
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0022g0220
a0002c0002t0030g0208
a0002c0002t0030g0212
a0002c0002t0032g0149
a0002c0002t0032g0226
a0002c0002t0033g0221
a0002c0002t0059g0200
a0003c0003t0005g0079
a0003c0003t0020g0199
a0004c0013t0036g0107
a0005c0011t0008g0092
a0006c0010t0031g0204
a0007c0009t0007g0096
 251 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(248): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+1281G>T
c.250+1281G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874531
chr7:105874532 T
T
 G
G
 1 a0007c0009t0007g0096
a0007c0009t0007g0096
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.250+1280A>C
c.250+1280A>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874532
chr7:105874545 C
C
 T
T
 2 a0001c0001t0008g0073
a0001c0001t0012g0028
a0001c0001t0008g0073
a0001c0001t0012g0028
 2 HG01168.hp2
HG01169.hp1
HG01168.hp2
HG01169.hp1
 intron_variant MODIFIER c.250+1267G>A
c.250+1267G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874545
chr7:105874632 C
C
 A
A
 33 a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
others(30): Show 
a0001c0001t0001g0026
a0001c0001t0001g0059
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0050
a0001c0001t0003g0100
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0007g0057
a0001c0001t0008g0045
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0051
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0052
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0019g0178
a0001c0001t0025g0104
a0001c0001t0039g0180
a0001c0001t0043g0105
a0001c0001t0064g0098
a0001c0012t0003g0047
 33 HG00642.hp2
HG00735.hp2
HG01346.hp1
others(30): Show 
HG00642.hp2
HG00735.hp2
HG01346.hp1
HG01516.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp2
HG02572.hp2
HG03098.hp1
HG03688.hp1
HG03942.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp1
NA18954.hp2
NA18989.hp1
NA18995.hp1
NA19005.hp1
NA19005.hp2
NA19054.hp2
NA19066.hp2
NA19067.hp1
NA19068.hp1
NA19079.hp1
NA19079.hp2
NA19086.hp2
 intron_variant MODIFIER c.250+1180G>T
c.250+1180G>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874632
chr7:105874644 C
C
 T
T
 46 a0001c0001t0001g0003
a0001c0001t0001g0119
a0001c0001t0002g0231
others(43): Show 
a0001c0001t0001g0003
a0001c0001t0001g0119
a0001c0001t0002g0231
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0118
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0005g0126
a0001c0001t0005g0182
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0010g0111
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0014g0123
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0017g0113
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0020g0120
a0001c0001t0021g0130
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0052g0133
a0001c0006t0001g0112
a0002c0002t0022g0066
 46 HG00323.hp1
HG00738.hp2
HG00741.hp2
others(43): Show 
HG00323.hp1
HG00738.hp2
HG00741.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01257.hp1
HG01261.hp2
HG01358.hp2
HG01433.hp2
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02280.hp1
HG02451.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02735.hp2
HG02738.hp2
HG02965.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.250+1168G>A
c.250+1168G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874644
chr7:105874650 T
T
 A
A
 5 a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0007g0223
others(2): Show 
a0001c0001t0001g0222
a0001c0001t0001g0225
a0001c0001t0007g0223
a0001c0001t0022g0224
a0002c0002t0033g0221
 5 HG02055.hp1
HG02280.hp2
HG03516.hp1
others(2): Show 
HG02055.hp1
HG02280.hp2
HG03516.hp1
HG03540.hp2
NA18522.hp2
 intron_variant MODIFIER c.250+1162A>T
c.250+1162A>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874650
chr7:105874701 G
G
 A
A
 1 a0001c0001t0043g0105
a0001c0001t0043g0105
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.250+1111C>T
c.250+1111C>T
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874701
chr7:105874744 T
T
 C
C
 3 a0001c0001t0010g0228
a0001c0001t0021g0227
a0002c0002t0032g0226
a0001c0001t0010g0228
a0001c0001t0021g0227
a0002c0002t0032g0226
 3 HG01074.hp2
HG02622.hp2
HG03540.hp1
HG01074.hp2
HG02622.hp2
HG03540.hp1
 intron_variant MODIFIER c.250+1068A>G
c.250+1068A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105874744
chr7:105875014 T
T
 C
C
 1 a0001c0001t0001g0106
a0001c0001t0001g0106
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.250+798A>G
c.250+798A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105875014
chr7:105875397 C
C
 T
T
 1 a0001c0001t0005g0027
a0001c0001t0005g0027
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.250+415G>A
c.250+415G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105875397
chr7:105875450 C
C
 G
G
 4 a0001c0001t0001g0108
a0001c0001t0015g0060
a0001c0001t0015g0109
others(1): Show 
a0001c0001t0001g0108
a0001c0001t0015g0060
a0001c0001t0015g0109
a0004c0013t0036g0107
 4 HG00280.hp1
HG01175.hp1
HG01256.hp1
others(1): Show 
HG00280.hp1
HG01175.hp1
HG01256.hp1
HG01261.hp1
 intron_variant MODIFIER c.250+362G>C
c.250+362G>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105875450
chr7:105875509 C
C
 T
T
 212 a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
others(209): Show 
a0001c0001t0001g0003
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0002g0002
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0186
a0001c0001t0002g0187
a0001c0001t0002g0188
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0004g0023
a0001c0001t0004g0039
a0001c0001t0004g0084
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0027
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0005g0182
a0001c0001t0005g0248
a0001c0001t0006g0001
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0006g0034
a0001c0001t0006g0067
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0057
a0001c0001t0007g0144
a0001c0001t0008g0015
a0001c0001t0008g0045
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0008g0175
a0001c0001t0008g0249
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0010g0111
a0001c0001t0011g0012
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0012g0064
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0013g0251
a0001c0001t0014g0038
a0001c0001t0014g0083
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0015g0019
a0001c0001t0015g0060
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0018g0094
a0001c0001t0018g0131
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0019g0178
a0001c0001t0019g0230
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0021g0184
a0001c0001t0023g0183
a0001c0001t0023g0247
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0025g0240
a0001c0001t0026g0189
a0001c0001t0026g0234
a0001c0001t0027g0008
a0001c0001t0027g0134
a0001c0001t0028g0037
a0001c0001t0028g0114
a0001c0001t0029g0072
a0001c0001t0031g0172
a0001c0001t0033g0040
a0001c0001t0034g0068
a0001c0001t0035g0151
a0001c0001t0037g0065
a0001c0001t0039g0180
a0001c0001t0042g0161
a0001c0001t0043g0105
a0001c0001t0044g0110
a0001c0001t0045g0190
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0051g0035
a0001c0001t0052g0133
a0001c0001t0053g0031
a0001c0001t0054g0087
a0001c0001t0057g0229
a0001c0001t0058g0018
a0001c0001t0061g0036
a0001c0001t0062g0007
a0001c0001t0063g0041
a0001c0001t0064g0098
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0001c0012t0003g0047
a0002c0002t0022g0066
a0002c0002t0032g0149
a0003c0003t0005g0079
a0004c0013t0036g0107
a0005c0011t0008g0092
a0007c0009t0007g0096
 212 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(209): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18989.hp1
NA18989.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA19000.hp1
NA19000.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+303G>A
c.250+303G>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105875509
chr7:105875626 T
T
 C
C
 17 a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
others(14): Show 
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0019g0230
a0001c0001t0025g0240
a0001c0001t0026g0234
a0001c0001t0057g0229
 17 HG00323.hp2
HG00738.hp1
HG01109.hp2
others(14): Show 
HG00323.hp2
HG00738.hp1
HG01109.hp2
HG01167.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG03490.hp1
HG03491.hp1
HG04199.hp1
 intron_variant MODIFIER c.250+186A>G
c.250+186A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105875626
chr7:105875627 A
A
 ACC
ACC
 78 a0001c0001t0001g0003
a0001c0001t0001g0108
a0001c0001t0001g0119
others(75): Show 
a0001c0001t0001g0003
a0001c0001t0001g0108
a0001c0001t0001g0119
a0001c0001t0001g0145
a0001c0001t0001g0163
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0002g0002
a0001c0001t0002g0142
a0001c0001t0002g0153
a0001c0001t0002g0160
a0001c0001t0002g0162
a0001c0001t0002g0167
a0001c0001t0002g0173
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0003g0118
a0001c0001t0003g0147
a0001c0001t0003g0150
a0001c0001t0003g0171
a0001c0001t0004g0124
a0001c0001t0004g0127
a0001c0001t0004g0128
a0001c0001t0004g0135
a0001c0001t0004g0137
a0001c0001t0005g0126
a0001c0001t0005g0159
a0001c0001t0006g0116
a0001c0001t0006g0117
a0001c0001t0006g0168
a0001c0001t0007g0144
a0001c0001t0008g0175
a0001c0001t0009g0141
a0001c0001t0009g0146
a0001c0001t0010g0111
a0001c0001t0011g0143
a0001c0001t0011g0152
a0001c0001t0011g0157
a0001c0001t0011g0164
a0001c0001t0011g0170
a0001c0001t0012g0115
a0001c0001t0012g0122
a0001c0001t0013g0129
a0001c0001t0013g0156
a0001c0001t0013g0251
a0001c0001t0014g0123
a0001c0001t0014g0166
a0001c0001t0015g0109
a0001c0001t0015g0125
a0001c0001t0015g0140
a0001c0001t0016g0136
a0001c0001t0016g0139
a0001c0001t0016g0176
a0001c0001t0017g0113
a0001c0001t0018g0131
a0001c0001t0019g0178
a0001c0001t0020g0120
a0001c0001t0020g0169
a0001c0001t0021g0130
a0001c0001t0027g0134
a0001c0001t0028g0114
a0001c0001t0031g0172
a0001c0001t0035g0151
a0001c0001t0039g0180
a0001c0001t0042g0161
a0001c0001t0044g0110
a0001c0001t0046g0138
a0001c0001t0047g0121
a0001c0001t0048g0132
a0001c0001t0049g0148
a0001c0001t0050g0155
a0001c0001t0052g0133
a0001c0004t0010g0154
a0001c0006t0001g0112
a0001c0007t0038g0158
a0001c0008t0014g0165
a0002c0002t0032g0149
a0004c0013t0036g0107
 78 HG00280.hp1
HG00558.hp2
HG00738.hp2
others(75): Show 
HG00280.hp1
HG00558.hp2
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01099.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp2
HG01515.hp2
HG01517.hp2
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp2
HG02015.hp1
HG02071.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02165.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp2
HG02602.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp2
HG03239.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18954.hp2
NA18962.hp1
NA19003.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.250+183_250+184dup
others(2): Show 
c.250+183_250+184dupGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105875627
chr7:105875627 A
A
 ACCC
ACCC
 48 a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
others(45): Show 
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0102
a0001c0001t0001g0106
a0001c0001t0003g0070
a0001c0001t0003g0071
a0001c0001t0003g0076
a0001c0001t0003g0086
a0001c0001t0003g0090
a0001c0001t0003g0100
a0001c0001t0004g0084
a0001c0001t0006g0067
a0001c0001t0008g0073
a0001c0001t0008g0075
a0001c0001t0008g0089
a0001c0001t0009g0097
a0001c0001t0009g0103
a0001c0001t0010g0091
a0001c0001t0010g0093
a0001c0001t0010g0095
a0001c0001t0011g0099
a0001c0001t0011g0101
a0001c0001t0012g0064
a0001c0001t0014g0083
a0001c0001t0015g0060
a0001c0001t0016g0061
a0001c0001t0016g0069
a0001c0001t0018g0094
a0001c0001t0019g0062
a0001c0001t0019g0063
a0001c0001t0024g0077
a0001c0001t0024g0250
a0001c0001t0025g0104
a0001c0001t0029g0072
a0001c0001t0034g0068
a0001c0001t0037g0065
a0001c0001t0043g0105
a0001c0001t0054g0087
a0001c0001t0064g0098
a0002c0002t0022g0066
a0003c0003t0005g0079
a0005c0011t0008g0092
a0007c0009t0007g0096
 48 HG00280.hp2
HG00558.hp1
HG00642.hp1
others(45): Show 
HG00280.hp2
HG00558.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01069.hp2
HG01081.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01261.hp2
HG01346.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01952.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp2
HG02056.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp2
HG02280.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02630.hp2
HG02738.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03471.hp1
HG06807.hp2
NA18747.hp2
NA18943.hp2
NA18945.hp2
NA18950.hp2
NA18957.hp2
NA18970.hp2
NA18989.hp1
NA18995.hp2
NA19000.hp1
 intron_variant MODIFIER c.250+182_250+184dup
others(3): Show 
c.250+182_250+184dupGGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105875627
chr7:105875627 A
A
 ACCCC
ACCCC
 35 a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
others(32): Show 
a0001c0001t0001g0033
a0001c0001t0001g0044
a0001c0001t0001g0059
a0001c0001t0002g0042
a0001c0001t0002g0048
a0001c0001t0002g0049
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0001t0003g0029
a0001c0001t0003g0030
a0001c0001t0003g0043
a0001c0001t0003g0050
a0001c0001t0004g0039
a0001c0001t0005g0027
a0001c0001t0006g0001
a0001c0001t0006g0034
a0001c0001t0007g0057
a0001c0001t0008g0045
a0001c0001t0008g0249
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0010g0032
a0001c0001t0010g0051
a0001c0001t0012g0028
a0001c0001t0012g0052
a0001c0001t0014g0038
a0001c0001t0018g0046
a0001c0001t0018g0058
a0001c0001t0028g0037
a0001c0001t0033g0040
a0001c0001t0051g0035
a0001c0001t0053g0031
a0001c0001t0061g0036
a0001c0001t0063g0041
a0001c0012t0003g0047
 35 HG00642.hp2
HG00735.hp2
HG01081.hp2
others(32): Show 
HG00642.hp2
HG00735.hp2
HG01081.hp2
HG01099.hp2
HG01169.hp1
HG01346.hp2
HG01884.hp2
HG01934.hp2
HG02027.hp2
HG02056.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp2
HG02572.hp2
HG02735.hp1
HG03831.hp2
HG03942.hp2
NA18957.hp1
NA18971.hp1
NA18971.hp2
NA18989.hp2
NA18995.hp1
NA19005.hp1
NA19005.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19086.hp1
NA19086.hp2
 intron_variant MODIFIER c.250+181_250+184dup
others(4): Show 
c.250+181_250+184dupGGGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105875627
chr7:105875627 A
A
 ACCCCC
ACCCCC
 26 a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
others(23): Show 
a0001c0001t0001g0005
a0001c0001t0001g0009
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0002g0010
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0003g0004
a0001c0001t0003g0006
a0001c0001t0003g0011
a0001c0001t0004g0023
a0001c0001t0004g0246
a0001c0001t0005g0014
a0001c0001t0005g0025
a0001c0001t0005g0248
a0001c0001t0006g0022
a0001c0001t0006g0024
a0001c0001t0008g0015
a0001c0001t0009g0013
a0001c0001t0009g0020
a0001c0001t0011g0012
a0001c0001t0015g0019
a0001c0001t0023g0247
a0001c0001t0027g0008
a0001c0001t0058g0018
a0001c0001t0062g0007
 26 HG01496.hp2
HG01981.hp1
HG02135.hp1
others(23): Show 
HG01496.hp2
HG01981.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02738.hp1
HG03139.hp2
HG03239.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03942.hp1
HG04199.hp2
NA18943.hp1
NA18954.hp1
NA18962.hp2
NA18970.hp1
NA18994.hp1
NA19000.hp2
NA19003.hp1
NA19009.hp1
NA19010.hp2
NA19060.hp1
NA19067.hp1
NA19085.hp1
NA19087.hp1
 intron_variant MODIFIER c.250+180_250+184dup
others(5): Show 
c.250+180_250+184dupGGGGG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105875627
chr7:105875636 C
C
 CCA
CCA
 15 a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
others(12): Show 
a0001c0001t0002g0231
a0001c0001t0002g0239
a0001c0001t0002g0245
a0001c0001t0003g0235
a0001c0001t0003g0238
a0001c0001t0012g0232
a0001c0001t0012g0244
a0001c0001t0013g0236
a0001c0001t0013g0241
a0001c0001t0013g0242
a0001c0001t0013g0243
a0001c0001t0014g0233
a0001c0001t0014g0237
a0001c0001t0025g0240
a0001c0001t0026g0234
 15 HG00323.hp2
HG00738.hp1
HG01167.hp1
others(12): Show 
HG00323.hp2
HG00738.hp1
HG01167.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01952.hp2
HG02148.hp2
HG03490.hp1
HG03491.hp1
HG04199.hp1
 intron_variant MODIFIER c.250+174_250+175dup
others(2): Show 
c.250+174_250+175dupTG
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105875636
chr7:105875686 G
G
 C
C
 6 a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
others(3): Show 
a0001c0001t0004g0246
a0001c0001t0005g0248
a0001c0001t0008g0249
a0001c0001t0013g0251
a0001c0001t0023g0247
a0001c0001t0024g0250
 6 HG02056.hp1
HG02135.hp1
NA19003.hp1
others(3): Show 
HG02056.hp1
HG02135.hp1
NA19003.hp1
NA19060.hp1
NA19074.hp2
NA20300.hp1
 intron_variant MODIFIER c.250+126C>G
c.250+126C>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 2/11 chr7 105875686
chr7:105875930 A
A
 G
G
 1 a0001c0001t0001g0003
a0001c0001t0001g0003
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.182-50T>C
c.182-50T>C
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 1/11 chr7 105875930
chr7:105875934 A
A
 T
T
 1 a0001c0001t0002g0002
a0001c0001t0002g0002
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.182-54T>A
c.182-54T>A
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 1/11 chr7 105875934
chr7:105875939 A
A
 C
C
 1 a0001c0001t0006g0001
a0001c0001t0006g0001
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.182-59T>G
c.182-59T>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 1/11 chr7 105875939
chr7:105876034 T
T
 C
C
 1 a0001c0001t0055g0252
a0001c0001t0055g0252
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.182-154A>G
c.182-154A>G
ATXN7L1 ENSG00000146776.15 transcript ENST00000419735.8 protein_coding 1/11 chr7 105876034

  • 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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