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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   ATXN2L_chr16_28817999_28842232  ATXN2L_chr16_28817999_28842232 (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 11273
ensemblid ENSG00000168488.19
hgncid 31326
symbol ATXN2L
name ataxin 2 like
refseq_nuc NM_007245.4
refseq_prot NP_009176.2
ensembl_nuc ENST00000336783.9
ensembl_prot ENSP00000338718.4
mane_status MANE Select
chr chr16
start 28822999
end 28837232
strand +
ver v1.2
region chr16:28822999-28837232
region5000 chr16:28817999-28842232
regionname0 ATXN2L_chr16_28822999_28837232
regionname5000 ATXN2L_chr16_28817999_28842232

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0000 0/0 0 1 0 0 1 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001 1/1 1075 371 76 66 178 12 37 137 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0002 0/0 953 1 0 0 1 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0003 0/0 1075 1 0 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0004 0/0 1075 1 0 0 0 0 1 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0005 0/0 1075 1 0 0 0 0 1 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0006 0/0 1045 1 1 0 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0007 0/0 1075 1 1 0 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0008 0/0 1075 1 0 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0009 0/0 1071 1 0 0 1 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0010 0/0 1075 1 0 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0011 0/0 1075 1 0 0 0 0 1 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/1 3228 313 28 64 176 12 32 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0002 0/0 3228 24 23 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0003 0/0 3228 12 12 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0004 0/0 3228 6 6 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0005 1/0 3228 3 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0006 0/0 3228 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0007 0/0 3228 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0008 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0009 0/0 3228 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0010 0/0 3228 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0011 0/0 3228 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0012 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0013 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0014 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0015 0/0 3228 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0016 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0017 0/0 3277 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0018 0/0 3228 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0019 0/0 3228 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0020 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0021 0/0 3228 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0022 0/0 3228 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0023 0/0 3216 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0024 0/0 3228 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0025 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0026 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0027 0/0 3228 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
c0028 0/0 3223 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 1229 330 72 63 147 12 34 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0002 0/0 1229 29 0 1 28 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0003 0/0 1230 4 0 1 2 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0004 0/0 1229 4 0 1 0 0 3 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0005 0/0 1229 3 0 1 0 0 2 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0006 0/0 1229 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0007 0/0 1180 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0008 0/0 1230 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0009 0/0 1222 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0010 0/0 1229 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0011 0/0 1229 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0012 0/0 1229 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0013 0/0 1229 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0014 0/0 1229 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0015 0/0 1229 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
t0016 0/0 1229 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 53 7 8 24 4 10 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0002 1/0 52 2 14 25 5 5 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0003 0/0 33 1 12 16 1 3 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0004 0/1 21 2 16 0 1 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0005 0/0 14 0 0 14 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0006 0/0 14 0 0 9 0 5 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0007 0/0 10 9 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0008 0/0 10 10 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0009 0/0 8 0 0 8 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0010 0/0 7 0 2 1 1 3 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0011 0/0 7 0 1 6 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0012 0/0 7 0 0 7 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0013 0/0 6 0 0 6 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0014 0/0 4 0 1 3 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0015 0/0 4 0 0 4 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0016 0/0 4 0 0 4 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0017 0/0 4 0 0 4 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0018 0/0 4 0 0 4 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0019 0/0 3 3 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0020 0/0 3 0 3 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0021 0/0 3 0 0 3 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0022 0/0 3 3 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0023 0/0 3 0 0 3 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0024 0/0 3 0 0 3 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0025 0/0 3 0 0 2 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0026 0/0 3 1 2 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0027 0/0 3 3 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0028 0/0 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0029 0/0 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0030 0/0 2 0 0 2 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0031 0/0 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0032 0/0 2 0 0 1 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0033 0/0 2 0 0 2 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0034 0/0 2 0 0 2 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0035 0/0 2 1 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0036 0/0 2 0 0 0 0 2 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0037 0/0 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0038 0/0 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0039 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0040 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0041 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0042 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0043 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0044 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0045 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0046 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0047 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0048 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0049 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0050 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0051 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0052 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0053 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0054 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0055 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0056 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0057 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0058 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0059 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0060 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0061 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0062 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0063 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0064 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0065 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0066 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0067 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0068 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0069 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0070 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0071 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0072 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0073 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0074 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0075 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0076 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0077 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0078 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0079 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0080 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0081 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0082 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0083 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0084 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0085 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0086 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0087 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0088 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0089 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0090 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0091 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0092 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0093 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0094 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0095 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0096 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0097 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0098 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0099 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0100 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0101 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0102 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0103 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0104 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0105 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0106 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0107 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0108 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
g0109 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0000c0019 0/0 3228 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0001 0/1 3228 313 28 64 176 12 32 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0002 0/0 3228 24 23 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0003 0/0 3228 12 12 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0004 0/0 3228 6 6 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0005 1/0 3228 3 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0006 0/0 3228 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0007 0/0 3228 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0010 0/0 3228 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0011 0/0 3228 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0012 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0013 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0014 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0016 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0020 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0021 0/0 3228 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0022 0/0 3228 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0024 0/0 3228 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0002c0028 0/0 3223 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0003c0009 0/0 3228 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0004c0026 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0005c0025 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0006c0017 0/0 3277 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0007c0018 0/0 3228 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0008c0015 0/0 3228 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0009c0023 0/0 3216 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0010c0027 0/0 3228 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0011c0008 0/0 3228 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0000c0019t0010 0/0 4456 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0001t0001 0/1 4456 268 25 59 143 12 28 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0001t0002 0/0 4456 29 0 1 28 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0001t0003 0/0 4457 3 0 1 2 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0001t0004 0/0 4456 3 0 1 0 0 2 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0001t0005 0/0 4456 3 0 1 0 0 2 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0001t0006 0/0 4456 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0001t0008 0/0 4457 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0001t0011 0/0 4456 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0001t0013 0/0 4456 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0001t0014 0/0 4456 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0001t0015 0/0 4456 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0001t0016 0/0 4456 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0002t0001 0/0 4456 24 23 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0003t0001 0/0 4456 12 12 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0004t0001 0/0 4456 5 5 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0004t0006 0/0 4456 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0005t0001 1/0 4456 3 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0006t0001 0/0 4456 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0007t0001 0/0 4456 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0010t0012 0/0 4456 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0011t0001 0/0 4456 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0012t0001 0/0 4456 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0013t0001 0/0 4456 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0014t0001 0/0 4456 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0016t0003 0/0 4457 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0020t0001 0/0 4456 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0021t0001 0/0 4456 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0022t0001 0/0 4456 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0001c0024t0001 0/0 4456 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0002c0028t0009 0/0 4444 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0003c0009t0001 0/0 4456 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0004c0026t0004 0/0 4456 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0005c0025t0001 0/0 4456 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0006c0017t0007 0/0 4456 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0007c0018t0001 0/0 4456 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0008c0015t0001 0/0 4456 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0009c0023t0001 0/0 4444 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0010c0027t0001 0/0 4456 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232
a0011c0008t0001 0/0 4456 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L copy fasta chr16 28817999 28842232

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0000c0019t0010g0059 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0001 0/0 42 6 6 22 4 4 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0002 0/0 47 0 14 23 5 5 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0003 0/0 30 1 10 15 1 3 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0004 0/1 17 1 14 0 1 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0006 0/0 6 0 0 2 0 4 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0009 0/0 8 0 0 8 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0010 0/0 7 0 2 1 1 3 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0011 0/0 7 0 1 6 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0012 0/0 7 0 0 7 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0013 0/0 6 0 0 6 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0015 0/0 4 0 0 4 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0016 0/0 4 0 0 4 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0017 0/0 4 0 0 4 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0018 0/0 4 0 0 4 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0020 0/0 3 0 3 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0021 0/0 3 0 0 3 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0023 0/0 3 0 0 3 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0024 0/0 3 0 0 3 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0025 0/0 3 0 0 2 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0026 0/0 3 1 2 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0030 0/0 2 0 0 2 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0031 0/0 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0032 0/0 2 0 0 1 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0033 0/0 2 0 0 2 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0034 0/0 2 0 0 2 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0035 0/0 2 1 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0036 0/0 2 0 0 0 0 2 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0037 0/0 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0038 0/0 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0039 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0040 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0042 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0046 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0047 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0048 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0049 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0050 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0051 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0052 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0053 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0054 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0056 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0057 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0061 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0066 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0067 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0072 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0074 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0077 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0079 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0080 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0082 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0084 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0085 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0086 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0087 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0090 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0095 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0096 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0097 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0098 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0099 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0100 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0103 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0104 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0105 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0106 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0001g0107 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0002g0005 0/0 14 0 0 14 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0002g0006 0/0 6 0 0 6 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0002g0014 0/0 4 0 1 3 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0002g0060 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0002g0065 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0002g0068 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0002g0073 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0002g0075 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0003g0001 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0003g0004 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0003g0088 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0004g0001 0/0 3 0 1 0 0 2 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0005g0001 0/0 2 0 1 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0005g0078 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0006g0004 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0008g0109 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0011g0006 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0013g0003 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0014g0001 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0015g0003 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0001t0016g0001 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0002t0001g0007 0/0 10 9 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0002t0001g0019 0/0 3 3 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0002t0001g0027 0/0 3 3 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0002t0001g0028 0/0 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0002t0001g0029 0/0 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0002t0001g0043 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0002t0001g0044 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0002t0001g0045 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0002t0001g0102 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0003t0001g0008 0/0 8 8 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0003t0001g0081 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0003t0001g0083 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0003t0001g0092 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0003t0001g0093 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0004t0001g0022 0/0 3 3 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0004t0001g0070 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0004t0001g0108 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0004t0006g0058 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0005t0001g0002 1/0 3 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0006t0001g0008 0/0 2 2 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0007t0001g0076 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0010t0012g0101 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0011t0001g0002 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0012t0001g0055 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0013t0001g0004 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0014t0001g0001 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0016t0003g0069 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0020t0001g0006 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0021t0001g0004 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0022t0001g0094 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0001c0024t0001g0063 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0002c0028t0009g0062 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0003c0009t0001g0003 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0004c0026t0004g0001 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0005c0025t0001g0071 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0006c0017t0007g0091 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0007c0018t0001g0064 0/0 1 1 0 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0008c0015t0001g0089 0/0 1 0 1 0 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0009c0023t0001g0041 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0010c0027t0001g0002 0/0 1 0 0 1 0 0 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
a0011c0008t0001g0001 0/0 1 0 0 0 0 1 ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0001 g0002 EUR GBR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00099 hp2 a0001 c0001 t0001 g0004 EUR GBR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00280 hp1 a0001 c0001 t0001 g0001 EUR FIN ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00280 hp2 a0001 c0001 t0001 g0002 EUR FIN ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00408 hp1 a0001 c0001 t0001 g0002 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00408 hp2 a0001 c0001 t0001 g0001 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00423 hp1 a0001 c0001 t0003 g0001 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00423 hp2 a0010 c0027 t0001 g0002 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00438 hp1 a0001 c0001 t0001 g0021 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00438 hp2 a0001 c0001 t0001 g0006 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00544 hp1 a0001 c0001 t0001 g0009 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00544 hp2 a0001 c0001 t0014 g0001 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00558 hp1 a0001 c0001 t0001 g0086 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00558 hp2 a0001 c0001 t0001 g0001 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00597 hp1 a0001 c0001 t0001 g0001 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00597 hp2 a0001 c0001 t0001 g0009 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00609 hp1 a0001 c0001 t0001 g0001 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00609 hp2 a0001 c0001 t0001 g0018 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00621 hp1 a0001 c0001 t0001 g0002 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00621 hp2 a0001 c0001 t0001 g0009 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00639 hp1 a0001 c0001 t0001 g0020 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00639 hp2 a0001 c0001 t0005 g0001 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00642 hp1 a0001 c0001 t0001 g0010 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00642 hp2 a0001 c0001 t0013 g0003 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00673 hp1 a0001 c0001 t0001 g0001 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00673 hp2 a0001 c0001 t0001 g0018 EAS CHS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00733 hp1 a0001 c0001 t0001 g0002 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00733 hp2 a0001 c0001 t0001 g0001 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00735 hp1 a0001 c0001 t0001 g0002 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00735 hp2 a0001 c0001 t0001 g0056 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00741 hp1 a0001 c0001 t0001 g0004 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG00741 hp2 a0008 c0015 t0001 g0089 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01070 hp1 a0001 c0001 t0001 g0020 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01070 hp2 a0001 c0001 t0001 g0002 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01071 hp1 a0001 c0001 t0001 g0004 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01071 hp2 a0001 c0001 t0001 g0020 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01074 hp1 a0001 c0001 t0001 g0002 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01074 hp2 a0003 c0009 t0001 g0003 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01081 hp1 a0001 c0001 t0001 g0090 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01081 hp2 a0001 c0001 t0001 g0004 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01099 hp1 a0001 c0001 t0001 g0002 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01099 hp2 a0001 c0001 t0003 g0004 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01106 hp1 a0001 c0001 t0001 g0001 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01106 hp2 a0001 c0002 t0001 g0007 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01109 hp1 a0001 c0001 t0001 g0002 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01109 hp2 a0001 c0001 t0001 g0026 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01167 hp1 a0001 c0001 t0001 g0003 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01167 hp2 a0001 c0001 t0001 g0002 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01169 hp1 a0001 c0001 t0001 g0003 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01169 hp2 a0001 c0001 t0001 g0002 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01175 hp1 a0001 c0021 t0001 g0004 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01175 hp2 a0001 c0001 t0001 g0072 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01192 hp1 a0001 c0001 t0001 g0003 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01192 hp2 a0001 c0001 t0001 g0096 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01243 hp1 a0001 c0001 t0001 g0026 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01243 hp2 a0001 c0001 t0001 g0002 AMR PUR ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01255 hp1 a0001 c0001 t0001 g0004 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01255 hp2 a0001 c0001 t0001 g0002 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01256 hp1 a0001 c0001 t0001 g0002 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01256 hp2 a0001 c0001 t0001 g0003 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01257 hp1 a0001 c0001 t0001 g0003 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01257 hp2 a0001 c0001 t0001 g0003 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01258 hp1 a0001 c0001 t0001 g0002 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01258 hp2 a0001 c0001 t0001 g0003 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01261 hp1 a0001 c0001 t0001 g0001 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01261 hp2 a0001 c0001 t0001 g0004 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01346 hp1 a0001 c0001 t0001 g0004 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01346 hp2 a0001 c0001 t0001 g0004 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01358 hp1 a0001 c0001 t0001 g0003 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01358 hp2 a0001 c0001 t0001 g0011 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01433 hp1 a0001 c0001 t0004 g0001 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01433 hp2 a0001 c0001 t0001 g0002 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01496 hp1 a0001 c0001 t0001 g0002 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01496 hp2 a0001 c0001 t0002 g0014 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01515 hp1 a0001 c0001 t0001 g0003 EUR IBS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01515 hp2 a0001 c0001 t0001 g0002 EUR IBS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01516 hp1 a0001 c0001 t0001 g0002 EUR IBS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01516 hp2 a0001 c0001 t0001 g0001 EUR IBS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01517 hp1 a0001 c0001 t0001 g0002 EUR IBS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01517 hp2 a0001 c0001 t0001 g0001 EUR IBS ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01884 hp1 a0001 c0002 t0001 g0027 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01884 hp2 a0001 c0003 t0001 g0008 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01891 hp1 a0001 c0001 t0001 g0100 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01891 hp2 a0001 c0002 t0001 g0019 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01928 hp1 a0001 c0001 t0001 g0004 AMR PEL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01928 hp2 a0001 c0001 t0001 g0004 AMR PEL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01934 hp1 a0001 c0001 t0001 g0048 AMR PEL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01934 hp2 a0001 c0001 t0001 g0001 AMR PEL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01952 hp1 a0001 c0001 t0001 g0004 AMR PEL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01952 hp2 a0001 c0001 t0001 g0004 AMR PEL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01978 hp1 a0001 c0001 t0001 g0039 AMR PEL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01978 hp2 a0001 c0001 t0001 g0004 AMR PEL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01993 hp1 a0001 c0001 t0001 g0004 AMR PEL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01993 hp2 a0001 c0001 t0001 g0001 AMR PEL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02004 hp1 a0001 c0001 t0001 g0003 AMR PEL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02004 hp2 a0001 c0001 t0001 g0003 AMR PEL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02015 hp1 a0001 c0001 t0001 g0002 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02015 hp2 a0001 c0001 t0002 g0005 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02027 hp1 a0001 c0001 t0001 g0001 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02027 hp2 a0001 c0001 t0002 g0014 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02040 hp1 a0001 c0001 t0001 g0006 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02040 hp2 a0001 c0001 t0001 g0025 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02055 hp1 a0001 c0002 t0001 g0007 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02055 hp2 a0001 c0003 t0001 g0008 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02056 hp1 a0001 c0001 t0001 g0103 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02056 hp2 a0001 c0001 t0001 g0010 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02071 hp1 a0001 c0001 t0001 g0009 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02071 hp2 a0001 c0001 t0001 g0012 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02074 hp1 a0001 c0001 t0001 g0095 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02074 hp2 a0001 c0001 t0001 g0001 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02080 hp1 a0001 c0001 t0001 g0003 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02080 hp2 a0001 c0001 t0001 g0001 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02083 hp1 a0001 c0001 t0001 g0009 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02083 hp2 a0001 c0001 t0001 g0018 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02145 hp1 a0001 c0001 t0001 g0035 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02145 hp2 a0001 c0001 t0001 g0084 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02165 hp1 a0001 c0001 t0001 g0012 EAS CDX ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02165 hp2 a0001 c0001 t0001 g0001 EAS CDX ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02257 hp1 a0001 c0002 t0001 g0028 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02257 hp2 a0001 c0001 t0001 g0004 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02258 hp1 a0001 c0002 t0001 g0007 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02258 hp2 a0001 c0002 t0001 g0045 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02280 hp1 a0001 c0001 t0001 g0031 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02280 hp2 a0001 c0003 t0001 g0008 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02300 hp1 a0001 c0001 t0001 g0004 AMR PEL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02300 hp2 a0001 c0001 t0001 g0104 AMR PEL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02451 hp1 a0001 c0002 t0001 g0019 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02451 hp2 a0001 c0001 t0016 g0001 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02523 hp1 a0001 c0001 t0001 g0003 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02523 hp2 a0001 c0001 t0001 g0040 EAS KHV ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02572 hp1 a0001 c0001 t0001 g0054 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02572 hp2 a0001 c0004 t0001 g0108 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02602 hp1 a0001 c0001 t0001 g0006 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02602 hp2 a0001 c0001 t0001 g0010 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02615 hp1 a0001 c0003 t0001 g0081 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02615 hp2 a0001 c0001 t0001 g0097 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02622 hp1 a0001 c0002 t0001 g0007 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02622 hp2 a0001 c0002 t0001 g0027 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02630 hp1 a0001 c0001 t0001 g0037 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02630 hp2 a0001 c0002 t0001 g0007 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02647 hp1 a0001 c0004 t0001 g0070 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02647 hp2 a0001 c0002 t0001 g0043 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02683 hp1 a0001 c0001 t0005 g0078 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02683 hp2 a0001 c0001 t0001 g0002 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02698 hp1 a0001 c0001 t0001 g0036 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02698 hp2 a0001 c0001 t0001 g0003 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02717 hp1 a0001 c0001 t0001 g0085 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02717 hp2 a0001 c0001 t0001 g0067 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02723 hp1 a0001 c0001 t0001 g0026 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02723 hp2 a0001 c0003 t0001 g0093 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02735 hp1 a0011 c0008 t0001 g0001 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02735 hp2 a0001 c0001 t0004 g0001 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02738 hp1 a0001 c0001 t0001 g0035 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02738 hp2 a0001 c0001 t0001 g0002 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02809 hp1 a0001 c0003 t0001 g0008 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02809 hp2 a0001 c0001 t0001 g0038 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02895 hp1 a0001 c0001 t0001 g0001 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02895 hp2 a0001 c0006 t0001 g0008 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02897 hp1 a0001 c0005 t0001 g0002 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02897 hp2 a0001 c0006 t0001 g0008 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02922 hp1 a0001 c0002 t0001 g0007 AFR ESN ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02922 hp2 a0001 c0001 t0001 g0038 AFR ESN ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02970 hp1 a0001 c0001 t0008 g0109 AFR ESN ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02970 hp2 a0001 c0003 t0001 g0008 AFR ESN ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02976 hp1 a0001 c0002 t0001 g0007 AFR ESN ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02976 hp2 a0001 c0001 t0001 g0031 AFR ESN ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03017 hp1 a0001 c0001 t0001 g0036 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03017 hp2 a0001 c0001 t0001 g0006 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03098 hp1 a0001 c0010 t0012 g0101 AFR MSL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03098 hp2 a0001 c0002 t0001 g0007 AFR MSL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03209 hp1 a0001 c0001 t0001 g0001 AFR MSL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03209 hp2 a0001 c0001 t0001 g0098 AFR MSL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03225 hp1 a0001 c0003 t0001 g0008 AFR MSL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03225 hp2 a0001 c0002 t0001 g0007 AFR MSL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03453 hp1 a0001 c0002 t0001 g0007 AFR MSL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03453 hp2 a0001 c0002 t0001 g0029 AFR MSL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03486 hp1 a0001 c0002 t0001 g0027 AFR MSL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03486 hp2 a0001 c0004 t0001 g0022 AFR MSL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03490 hp1 a0001 c0001 t0001 g0002 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03490 hp2 a0001 c0001 t0005 g0001 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03491 hp1 a0001 c0001 t0001 g0003 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03491 hp2 a0001 c0001 t0001 g0001 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03540 hp1 a0001 c0004 t0001 g0022 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03540 hp2 a0007 c0018 t0001 g0064 AFR GWD ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03579 hp1 a0006 c0017 t0007 g0091 AFR MSL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03579 hp2 a0001 c0001 t0001 g0099 AFR MSL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03654 hp1 a0001 c0013 t0001 g0004 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03654 hp2 a0001 c0001 t0001 g0080 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03669 hp1 a0001 c0001 t0001 g0049 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03669 hp2 a0001 c0001 t0001 g0010 SAS PJL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03688 hp1 a0001 c0001 t0001 g0006 SAS STU ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03688 hp2 a0001 c0001 t0001 g0032 SAS STU ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03831 hp1 a0001 c0014 t0001 g0001 SAS BEB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03831 hp2 a0001 c0001 t0001 g0001 SAS BEB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03834 hp1 a0001 c0001 t0001 g0006 SAS BEB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03834 hp2 a0001 c0001 t0001 g0002 SAS BEB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03927 hp1 a0001 c0012 t0001 g0055 SAS BEB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03927 hp2 a0001 c0016 t0003 g0069 SAS BEB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03942 hp1 a0004 c0026 t0004 g0001 SAS BEB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03942 hp2 a0001 c0020 t0001 g0006 SAS BEB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG04115 hp1 a0001 c0001 t0001 g0079 SAS STU ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG04115 hp2 a0001 c0001 t0001 g0074 SAS STU ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG04184 hp1 a0005 c0025 t0001 g0071 SAS BEB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG04184 hp2 a0001 c0001 t0001 g0010 SAS BEB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG04204 hp1 a0001 c0001 t0001 g0002 SAS STU ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG04204 hp2 a0001 c0001 t0004 g0001 SAS STU ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG04228 hp1 a0001 c0001 t0001 g0003 SAS STU ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG04228 hp2 a0001 c0001 t0001 g0001 SAS STU ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18522 hp1 a0001 c0022 t0001 g0094 AFR YRI ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18522 hp2 a0001 c0002 t0001 g0019 AFR YRI ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18612 hp1 a0001 c0001 t0001 g0052 EAS CHB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18612 hp2 a0001 c0001 t0001 g0051 EAS CHB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18747 hp1 a0001 c0001 t0001 g0002 EAS CHB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18747 hp2 a0001 c0001 t0001 g0001 EAS CHB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18906 hp1 a0001 c0001 t0001 g0001 AFR YRI ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18906 hp2 a0001 c0005 t0001 g0002 AFR YRI ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18939 hp1 a0001 c0001 t0001 g0017 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18939 hp2 a0001 c0001 t0001 g0003 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18941 hp1 a0001 c0001 t0001 g0003 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18941 hp2 a0000 c0019 t0010 g0059 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18942 hp1 a0001 c0001 t0002 g0005 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18942 hp2 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18943 hp1 a0001 c0001 t0001 g0016 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18943 hp2 a0001 c0001 t0002 g0005 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18944 hp1 a0001 c0001 t0001 g0012 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18944 hp2 a0001 c0001 t0001 g0003 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18945 hp1 a0001 c0001 t0002 g0073 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18945 hp2 a0001 c0001 t0001 g0107 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18946 hp1 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18946 hp2 a0001 c0001 t0002 g0075 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18947 hp1 a0001 c0001 t0001 g0032 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18947 hp2 a0001 c0001 t0001 g0013 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18948 hp1 a0001 c0001 t0001 g0017 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18948 hp2 a0001 c0011 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18949 hp1 a0001 c0001 t0001 g0021 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18949 hp2 a0001 c0001 t0001 g0024 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18950 hp1 a0001 c0001 t0001 g0003 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18950 hp2 a0001 c0001 t0001 g0011 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18951 hp1 a0001 c0001 t0001 g0001 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18951 hp2 a0001 c0001 t0001 g0011 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18952 hp1 a0001 c0001 t0001 g0012 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18952 hp2 a0001 c0001 t0001 g0011 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18953 hp1 a0001 c0001 t0002 g0005 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18953 hp2 a0001 c0001 t0001 g0012 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18954 hp1 a0001 c0001 t0001 g0030 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18954 hp2 a0001 c0001 t0001 g0046 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18956 hp1 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18956 hp2 a0002 c0028 t0009 g0062 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18957 hp1 a0001 c0001 t0002 g0005 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18957 hp2 a0001 c0001 t0001 g0057 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18961 hp1 a0001 c0001 t0001 g0003 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18961 hp2 a0001 c0001 t0001 g0001 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18962 hp1 a0001 c0001 t0001 g0003 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18962 hp2 a0001 c0001 t0002 g0006 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18964 hp1 a0001 c0001 t0002 g0005 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18964 hp2 a0001 c0001 t0001 g0030 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18966 hp1 a0001 c0001 t0001 g0009 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18966 hp2 a0001 c0001 t0002 g0005 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18967 hp1 a0001 c0001 t0001 g0024 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18967 hp2 a0001 c0001 t0001 g0003 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18970 hp1 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18970 hp2 a0001 c0001 t0001 g0003 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18971 hp1 a0001 c0001 t0001 g0015 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18971 hp2 a0001 c0001 t0001 g0012 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18972 hp1 a0001 c0001 t0001 g0033 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18972 hp2 a0001 c0001 t0001 g0001 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18973 hp1 a0001 c0001 t0002 g0065 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18973 hp2 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18975 hp1 a0001 c0001 t0001 g0011 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18975 hp2 a0001 c0001 t0001 g0003 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18977 hp1 a0001 c0001 t0001 g0013 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18977 hp2 a0001 c0001 t0001 g0082 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18979 hp1 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18979 hp2 a0001 c0001 t0001 g0003 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18980 hp1 a0001 c0001 t0001 g0106 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18980 hp2 a0001 c0001 t0003 g0088 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18981 hp1 a0001 c0001 t0001 g0013 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18981 hp2 a0001 c0001 t0001 g0105 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18983 hp1 a0001 c0001 t0001 g0023 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18983 hp2 a0001 c0001 t0002 g0005 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18984 hp1 a0001 c0001 t0002 g0005 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18984 hp2 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18988 hp1 a0001 c0001 t0001 g0025 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18988 hp2 a0001 c0001 t0001 g0001 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18990 hp1 a0001 c0001 t0001 g0018 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18990 hp2 a0001 c0001 t0002 g0006 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18993 hp1 a0001 c0001 t0002 g0068 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18993 hp2 a0001 c0001 t0001 g0009 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18994 hp1 a0001 c0001 t0001 g0011 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18994 hp2 a0001 c0001 t0001 g0087 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18995 hp1 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18995 hp2 a0001 c0001 t0001 g0016 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18998 hp1 a0001 c0001 t0001 g0013 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18998 hp2 a0001 c0001 t0011 g0006 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18999 hp1 a0001 c0001 t0001 g0034 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA18999 hp2 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19000 hp1 a0001 c0001 t0001 g0017 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19000 hp2 a0001 c0001 t0001 g0015 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19001 hp1 a0001 c0001 t0001 g0001 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19001 hp2 a0001 c0001 t0001 g0001 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19003 hp1 a0001 c0001 t0001 g0017 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19003 hp2 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19007 hp1 a0001 c0001 t0001 g0077 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19007 hp2 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19009 hp1 a0001 c0001 t0001 g0024 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19009 hp2 a0001 c0001 t0001 g0001 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19011 hp1 a0001 c0001 t0001 g0013 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19011 hp2 a0001 c0001 t0001 g0003 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19012 hp1 a0001 c0001 t0001 g0034 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19012 hp2 a0001 c0001 t0001 g0001 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19043 hp1 a0001 c0001 t0001 g0037 AFR LWK ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19043 hp2 a0001 c0003 t0001 g0008 AFR LWK ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19054 hp1 a0001 c0001 t0002 g0005 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19054 hp2 a0001 c0001 t0001 g0001 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19055 hp1 a0001 c0001 t0001 g0009 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19055 hp2 a0001 c0001 t0015 g0003 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19057 hp1 a0001 c0001 t0001 g0003 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19057 hp2 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19058 hp1 a0001 c0001 t0001 g0013 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19058 hp2 a0001 c0001 t0002 g0006 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19062 hp1 a0001 c0001 t0001 g0015 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19062 hp2 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19063 hp1 a0001 c0001 t0001 g0001 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19063 hp2 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19064 hp1 a0001 c0001 t0001 g0015 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19064 hp2 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19066 hp1 a0001 c0001 t0002 g0005 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19066 hp2 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19067 hp1 a0001 c0001 t0001 g0050 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19067 hp2 a0001 c0001 t0002 g0005 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19068 hp1 a0001 c0001 t0001 g0001 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19068 hp2 a0001 c0007 t0001 g0076 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19070 hp1 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19070 hp2 a0001 c0001 t0001 g0066 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19074 hp1 a0001 c0001 t0001 g0047 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19074 hp2 a0001 c0001 t0002 g0006 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19077 hp1 a0001 c0001 t0001 g0023 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19077 hp2 a0001 c0001 t0001 g0001 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19078 hp1 a0001 c0001 t0001 g0061 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19078 hp2 a0001 c0001 t0002 g0060 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19080 hp1 a0001 c0001 t0002 g0014 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19080 hp2 a0001 c0001 t0001 g0023 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19081 hp1 a0001 c0001 t0001 g0003 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19081 hp2 a0001 c0001 t0001 g0016 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19082 hp1 a0001 c0001 t0002 g0014 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19082 hp2 a0001 c0001 t0001 g0053 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19084 hp1 a0001 c0001 t0001 g0021 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19084 hp2 a0009 c0023 t0001 g0041 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19085 hp1 a0001 c0001 t0001 g0011 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19085 hp2 a0001 c0001 t0001 g0033 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19087 hp1 a0001 c0001 t0001 g0012 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19087 hp2 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19088 hp1 a0001 c0001 t0001 g0016 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19088 hp2 a0001 c0001 t0002 g0006 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19090 hp1 a0001 c0001 t0002 g0005 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19090 hp2 a0001 c0001 t0002 g0005 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19091 hp1 a0001 c0001 t0001 g0002 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19091 hp2 a0001 c0001 t0002 g0006 EAS JPT ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19240 hp1 a0001 c0003 t0001 g0092 AFR YRI ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA19240 hp2 a0001 c0004 t0001 g0022 AFR YRI ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA20129 hp1 a0001 c0001 t0006 g0004 AFR ASW ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA20129 hp2 a0001 c0001 t0001 g0042 AFR ASW ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA20752 hp1 a0001 c0001 t0001 g0001 EUR TSI ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA20752 hp2 a0001 c0001 t0001 g0010 EUR TSI ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA20905 hp1 a0001 c0001 t0001 g0001 SAS GIH ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA20905 hp2 a0001 c0001 t0001 g0025 SAS GIH ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01123 hp1 a0001 c0001 t0001 g0010 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG01123 hp2 a0001 c0001 t0001 g0001 AMR CLM ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02109 hp1 a0001 c0001 t0001 g0001 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02109 hp2 a0001 c0002 t0001 g0029 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02559 hp1 a0001 c0004 t0006 g0058 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG02559 hp2 a0001 c0002 t0001 g0028 AFR ACB ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03471 hp1 a0001 c0003 t0001 g0008 AFR MSL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG03471 hp2 a0001 c0002 t0001 g0044 AFR MSL ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG06807 hp1 a0001 c0001 t0001 g0003 AFR USA ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
HG06807 hp2 a0001 c0001 t0001 g0001 AFR USA ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA20300 hp1 a0001 c0024 t0001 g0063 AFR USA ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA20300 hp2 a0001 c0002 t0001 g0102 AFR USA ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA21309 hp1 a0001 c0003 t0001 g0083 AFR LWK ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
NA21309 hp2 a0001 c0001 t0001 g0001 AFR LWK ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0004 REF REF ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232
homoSapiens_grch38 hp1 a0001 c0005 t0001 g0002 REF REF ATXN2L_chr16_28817999_28842232 ATXN2L chr16 28817999 28842232

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
chr16:28823252 CTGCCATC
others(5): Show 
CTGCCATCATGTT
 C
C
 1 a0002
a0002
 1 NA18956.hp2
NA18956.hp2
 start_lost&conservative_inframe_deletion HIGH c.-7_5delTGCCATCATGT
others(1): Show 
c.-7_5delTGCCATCATGTT
 p.Met1_Leu2del
p.Met1_Leu2del
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/22 255/4456 1/3228 1/1075 chr16 28823252
chr16:28823344 G
G
 A
A
 1 a0011
a0011
 1 HG02735.hp1
HG02735.hp1
 missense_variant MODERATE c.85G>A
c.85G>A
 p.Gly29Arg
p.Gly29Arg
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/22 346/4456 85/3228 29/1075 chr16 28823344
chr16:28823396 C
C
 T
T
 1 a0010
a0010
 1 HG00423.hp2
HG00423.hp2
 missense_variant MODERATE c.137C>T
c.137C>T
 p.Ala46Val
p.Ala46Val
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/22 398/4456 137/3228 46/1075 chr16 28823396
chr16:28826366 G
G
 A
A
 1 a0003
a0003
 1 HG01074.hp2
HG01074.hp2
 missense_variant MODERATE c.592G>A
c.592G>A
 p.Val198Ile
p.Val198Ile
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 5/22 853/4456 592/3228 198/1075 chr16 28826366
chr16:28829925 C
C
 G
G
 1 a0004
a0004
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.901C>G
c.901C>G
 p.Arg301Gly
p.Arg301Gly
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 8/22 1162/4456 901/3228 301/1075 chr16 28829925
chr16:28829948 G
G
 T
T
 1 a0005
a0005
 1 HG04184.hp1
HG04184.hp1
 missense_variant MODERATE c.924G>T
c.924G>T
 p.Gln308His
p.Gln308His
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 8/22 1185/4456 924/3228 308/1075 chr16 28829948
chr16:28830647 TCCGGGAA
others(5): Show 
TCCGGGAAGGTCC
 T
T
 1 a0009
a0009
 1 NA19084.hp2
NA19084.hp2
 disruptive_inframe_deletion MODERATE c.1073_1084delAAGGTC
others(6): Show 
c.1073_1084delAAGGTCCCCGGG
 p.Glu358_Arg361del
p.Glu358_Arg361del
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 9/22 1334/4456 1073/3228 358/1075 INFO_REALIGN_3_PRIME chr16 28830647
chr16:28834512 T
T
 C
C
 1 a0008
a0008
 1 HG00741.hp2
HG00741.hp2
 missense_variant MODERATE c.2252T>C
c.2252T>C
 p.Leu751Pro
p.Leu751Pro
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 18/22 2513/4456 2252/3228 751/1075 chr16 28834512
chr16:28834514 C
C
 T
T
 1 a0008
a0008
 1 HG00741.hp2
HG00741.hp2
 missense_variant MODERATE c.2254C>T
c.2254C>T
 p.Pro752Ser
p.Pro752Ser
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 18/22 2515/4456 2254/3228 752/1075 chr16 28834514
chr16:28835078 T
T
 TCAGAGCA
others(42): Show 
TCAGAGCAACCCACGCATGCTGACGTCGGGCAGCCATCCCCAGGCCATCG
 1 a0006
a0006
 1 HG03579.hp1
HG03579.hp1
 frameshift_variant HIGH c.2455_2503dupCAGAGC
others(43): Show 
c.2455_2503dupCAGAGCAACCCACGCATGCTGACGTCGGGCAGCCAT
CCCCAGGCCATCG
 p.Val835fs
p.Val835fs
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 19/22 2765/4456 2504/3228 835/1075 INFO_REALIGN_3_PRIME chr16 28835078
chr16:28835321 T
T
 G
G
 1 a0007
a0007
 1 HG03540.hp2
HG03540.hp2
 missense_variant MODERATE c.2607T>G
c.2607T>G
 p.His869Gln
p.His869Gln
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 20/22 2868/4456 2607/3228 869/1075 chr16 28835321
chr16:28836060 G
G
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3023G>C
c.3023G>C
 p.Ser1008Thr
p.Ser1008Thr
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3284/4456 3023/3228 1008/1075 chr16 28836060
chr16:28836063 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3026G>T
c.3026G>T
 p.Gly1009Val
p.Gly1009Val
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3287/4456 3026/3228 1009/1075 chr16 28836063
chr16:28836065 G
G
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3028G>C
c.3028G>C
 p.Val1010Leu
p.Val1010Leu
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3289/4456 3028/3228 1010/1075 chr16 28836065
chr16:28836066 T
T
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3029T>C
c.3029T>C
 p.Val1010Ala
p.Val1010Ala
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3290/4456 3029/3228 1010/1075 chr16 28836066
chr16:28836071 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3034G>T
c.3034G>T
 p.Ala1012Ser
p.Ala1012Ser
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3295/4456 3034/3228 1012/1075 chr16 28836071
chr16:28836080 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3043G>T
c.3043G>T
 p.Ala1015Ser
p.Ala1015Ser
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3304/4456 3043/3228 1015/1075 chr16 28836080
chr16:28836083 T
T
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3046T>C
c.3046T>C
 p.Ser1016Pro
p.Ser1016Pro
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3307/4456 3046/3228 1016/1075 chr16 28836083
chr16:28836084 C
C
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3047C>T
c.3047C>T
 p.Ser1016Phe
p.Ser1016Phe
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3308/4456 3047/3228 1016/1075 chr16 28836084
chr16:28836087 C
C
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3050C>A
c.3050C>A
 p.Thr1017Lys
p.Thr1017Lys
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3311/4456 3050/3228 1017/1075 chr16 28836087
chr16:28836110 G
G
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3073G>C
c.3073G>C
 p.Gly1025Arg
p.Gly1025Arg
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3334/4456 3073/3228 1025/1075 chr16 28836110
chr16:28836111 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3074G>T
c.3074G>T
 p.Gly1025Val
p.Gly1025Val
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3335/4456 3074/3228 1025/1075 chr16 28836111
chr16:28836125 G
G
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3088G>C
c.3088G>C
 p.Glu1030Gln
p.Glu1030Gln
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3349/4456 3088/3228 1030/1075 chr16 28836125
chr16:28836127 G
G
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3090G>C
c.3090G>C
 p.Glu1030Asp
p.Glu1030Asp
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3351/4456 3090/3228 1030/1075 chr16 28836127
chr16:28836128 C
C
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 stop_gained HIGH c.3091C>T
c.3091C>T
 p.Gln1031*
p.Gln1031*
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3352/4456 3091/3228 1031/1075 chr16 28836128
chr16:28836130 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3093G>T
c.3093G>T
 p.Gln1031His
p.Gln1031His
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3354/4456 3093/3228 1031/1075 chr16 28836130
chr16:28836134 G
G
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3097G>A
c.3097G>A
 p.Gly1033Ser
p.Gly1033Ser
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3358/4456 3097/3228 1033/1075 chr16 28836134
chr16:28836135 G
G
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3098G>A
c.3098G>A
 p.Gly1033Asp
p.Gly1033Asp
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3359/4456 3098/3228 1033/1075 chr16 28836135
chr16:28836137 C
C
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3100C>A
c.3100C>A
 p.Gln1034Lys
p.Gln1034Lys
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3361/4456 3100/3228 1034/1075 chr16 28836137
chr16:28836146 G
G
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3109G>A
c.3109G>A
 p.Gly1037Arg
p.Gly1037Arg
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3370/4456 3109/3228 1037/1075 chr16 28836146
chr16:28836147 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3110G>T
c.3110G>T
 p.Gly1037Val
p.Gly1037Val
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3371/4456 3110/3228 1037/1075 chr16 28836147
chr16:28836155 G
G
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3118G>A
c.3118G>A
 p.Gly1040Arg
p.Gly1040Arg
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3379/4456 3118/3228 1040/1075 chr16 28836155
chr16:28836156 G
G
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3119G>A
c.3119G>A
 p.Gly1040Glu
p.Gly1040Glu
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3380/4456 3119/3228 1040/1075 chr16 28836156
chr16:28836158 G
G
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3121G>C
c.3121G>C
 p.Gly1041Arg
p.Gly1041Arg
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3382/4456 3121/3228 1041/1075 chr16 28836158
chr16:28836159 G
G
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3122G>C
c.3122G>C
 p.Gly1041Ala
p.Gly1041Ala
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3383/4456 3122/3228 1041/1075 chr16 28836159
chr16:28836161 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3124G>T
c.3124G>T
 p.Ala1042Ser
p.Ala1042Ser
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3385/4456 3124/3228 1042/1075 chr16 28836161
chr16:28836162 C
C
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3125C>T
c.3125C>T
 p.Ala1042Val
p.Ala1042Val
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3386/4456 3125/3228 1042/1075 chr16 28836162
chr16:28836164 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3127G>T
c.3127G>T
 p.Asp1043Tyr
p.Asp1043Tyr
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3388/4456 3127/3228 1043/1075 chr16 28836164
chr16:28836165 A
A
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3128A>C
c.3128A>C
 p.Asp1043Ala
p.Asp1043Ala
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3389/4456 3128/3228 1043/1075 chr16 28836165
chr16:28836167 G
G
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3130G>A
c.3130G>A
 p.Asp1044Asn
p.Asp1044Asn
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3391/4456 3130/3228 1044/1075 chr16 28836167
chr16:28836168 A
A
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3131A>T
c.3131A>T
 p.Asp1044Val
p.Asp1044Val
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3392/4456 3131/3228 1044/1075 chr16 28836168
chr16:28836170 A
A
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3133A>T
c.3133A>T
 p.Arg1045Trp
p.Arg1045Trp
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3394/4456 3133/3228 1045/1075 chr16 28836170
chr16:28836171 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3134G>T
c.3134G>T
 p.Arg1045Met
p.Arg1045Met
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3395/4456 3134/3228 1045/1075 chr16 28836171
chr16:28836172 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3135G>T
c.3135G>T
 p.Arg1045Ser
p.Arg1045Ser
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3396/4456 3135/3228 1045/1075 chr16 28836172
chr16:28836173 A
A
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3136A>T
c.3136A>T
 p.Ile1046Phe
p.Ile1046Phe
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3397/4456 3136/3228 1046/1075 chr16 28836173
chr16:28836174 T
T
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3137T>C
c.3137T>C
 p.Ile1046Thr
p.Ile1046Thr
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3398/4456 3137/3228 1046/1075 chr16 28836174
chr16:28836181 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3144G>T
c.3144G>T
 p.Glu1048Asp
p.Glu1048Asp
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3405/4456 3144/3228 1048/1075 chr16 28836181
chr16:28836186 C
C
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3149C>T
c.3149C>T
 p.Ser1050Leu
p.Ser1050Leu
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3410/4456 3149/3228 1050/1075 chr16 28836186
chr16:28836188 T
T
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3151T>A
c.3151T>A
 p.Leu1051Ile
p.Leu1051Ile
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3412/4456 3151/3228 1051/1075 chr16 28836188
chr16:28836191 G
G
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3154G>C
c.3154G>C
 p.Ala1052Pro
p.Ala1052Pro
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3415/4456 3154/3228 1052/1075 chr16 28836191
chr16:28836194 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3157G>T
c.3157G>T
 p.Gly1053Trp
p.Gly1053Trp
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3418/4456 3157/3228 1053/1075 chr16 28836194
chr16:28836195 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3158G>T
c.3158G>T
 p.Gly1053Val
p.Gly1053Val
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3419/4456 3158/3228 1053/1075 chr16 28836195
chr16:28836197 G
G
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3160G>A
c.3160G>A
 p.Gly1054Arg
p.Gly1054Arg
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3421/4456 3160/3228 1054/1075 chr16 28836197
chr16:28836198 G
G
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3161G>A
c.3161G>A
 p.Gly1054Glu
p.Gly1054Glu
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3422/4456 3161/3228 1054/1075 chr16 28836198
chr16:28836200 A
A
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3163A>T
c.3163A>T
 p.Ile1055Phe
p.Ile1055Phe
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3424/4456 3163/3228 1055/1075 chr16 28836200
chr16:28836203 T
T
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3166T>A
c.3166T>A
 p.Trp1056Arg
p.Trp1056Arg
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3427/4456 3166/3228 1056/1075 chr16 28836203
chr16:28836206 C
C
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3169C>T
c.3169C>T
 p.His1057Tyr
p.His1057Tyr
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3430/4456 3169/3228 1057/1075 chr16 28836206
chr16:28836209 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 stop_gained HIGH c.3172G>T
c.3172G>T
 p.Gly1058*
p.Gly1058*
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3433/4456 3172/3228 1058/1075 chr16 28836209
chr16:28836210 G
G
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3173G>C
c.3173G>C
 p.Gly1058Ala
p.Gly1058Ala
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3434/4456 3173/3228 1058/1075 chr16 28836210
chr16:28836213 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3176G>T
c.3176G>T
 p.Arg1059Ile
p.Arg1059Ile
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3437/4456 3176/3228 1059/1075 chr16 28836213
chr16:28836216 C
C
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3179C>T
c.3179C>T
 p.Ala1060Val
p.Ala1060Val
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3440/4456 3179/3228 1060/1075 chr16 28836216
chr16:28836227 C
C
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3190C>A
c.3190C>A
 p.Gln1064Lys
p.Gln1064Lys
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3451/4456 3190/3228 1064/1075 chr16 28836227
chr16:28836233 G
G
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3196G>C
c.3196G>C
 p.Gly1066Arg
p.Gly1066Arg
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3457/4456 3196/3228 1066/1075 chr16 28836233
chr16:28836234 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3197G>T
c.3197G>T
 p.Gly1066Val
p.Gly1066Val
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3458/4456 3197/3228 1066/1075 chr16 28836234
chr16:28836236 C
C
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 stop_gained HIGH c.3199C>T
c.3199C>T
 p.Gln1067*
p.Gln1067*
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3460/4456 3199/3228 1067/1075 chr16 28836236
chr16:28836237 A
A
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3200A>T
c.3200A>T
 p.Gln1067Leu
p.Gln1067Leu
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3461/4456 3200/3228 1067/1075 chr16 28836237
chr16:28836238 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3201G>T
c.3201G>T
 p.Gln1067His
p.Gln1067His
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3462/4456 3201/3228 1067/1075 chr16 28836238
chr16:28836242 G
G
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3205G>A
c.3205G>A
 p.Ala1069Thr
p.Ala1069Thr
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3466/4456 3205/3228 1069/1075 chr16 28836242
chr16:28836246 G
G
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3209G>C
c.3209G>C
 p.Arg1070Pro
p.Arg1070Pro
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3470/4456 3209/3228 1070/1075 chr16 28836246
chr16:28836248 G
G
 T
T
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3211G>T
c.3211G>T
 p.Val1071Phe
p.Val1071Phe
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3472/4456 3211/3228 1071/1075 chr16 28836248
chr16:28836255 G
G
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3218G>A
c.3218G>A
 p.Gly1073Asp
p.Gly1073Asp
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3479/4456 3218/3228 1073/1075 chr16 28836255
chr16:28836260 G
G
 A
A
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 missense_variant MODERATE c.3223G>A
c.3223G>A
 p.Glu1075Lys
p.Glu1075Lys
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3484/4456 3223/3228 1075/1075 chr16 28836260
chr16:28836265 A
A
 C
C
 1 a0000
a0000
 1 NA18941.hp2
NA18941.hp2
 stop_lost HIGH c.3228A>C
c.3228A>C
 p.Ter1076Cysext*?
p.Ter1076Cysext*?
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3489/4456 3228/3228 1076/1075 chr16 28836265

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
chr16:28823322 G
G
 A
A
 1 a0001c0007
a0001c0007
 1 NA19068.hp2
NA19068.hp2
 synonymous_variant LOW c.63G>A
c.63G>A
 p.Gln21Gln
p.Gln21Gln
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/22 324/4456 63/3228 21/1075 chr16 28823322
chr16:28823448 C
C
 T
T
 2 a0001c0003
a0001c0006
a0001c0003
a0001c0006
 14 HG01884.hp2
HG02055.hp2
HG02280.hp2
others(11): Show 
HG01884.hp2
HG02055.hp2
HG02280.hp2
HG02615.hp1
HG02723.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp2
HG02970.hp2
HG03225.hp1
HG03471.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 synonymous_variant LOW c.189C>T
c.189C>T
 p.Ala63Ala
p.Ala63Ala
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/22 450/4456 189/3228 63/1075 chr16 28823448
chr16:28829975 C
C
 T
T
 1 a0001c0006
a0001c0006
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 synonymous_variant LOW c.951C>T
c.951C>T
 p.Asn317Asn
p.Asn317Asn
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 8/22 1212/4456 951/3228 317/1075 chr16 28829975
chr16:28830630 C
C
 T
T
 1 a0001c0024
a0001c0024
 1 NA20300.hp1
NA20300.hp1
 synonymous_variant LOW c.1050C>T
c.1050C>T
 p.Ile350Ile
p.Ile350Ile
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 9/22 1311/4456 1050/3228 350/1075 chr16 28830630
chr16:28830990 A
A
 G
G
 27 a0000c0019
a0001c0001
a0001c0002
others(24): Show 
a0000c0019
a0001c0001
a0001c0002
a0001c0003
a0001c0004
a0001c0006
a0001c0007
a0001c0010
a0001c0011
a0001c0012
a0001c0013
a0001c0014
a0001c0016
a0001c0020
a0001c0021
a0001c0022
a0001c0024
a0002c0028
a0003c0009
a0004c0026
a0005c0025
a0006c0017
a0007c0018
a0008c0015
a0009c0023
a0010c0027
a0011c0008
 379 HG00099.hp1
HG00099.hp2
HG00280.hp1
others(376): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.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
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.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
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.1239A>G
c.1239A>G
 p.Gln413Gln
p.Gln413Gln
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 10/22 1500/4456 1239/3228 413/1075 chr16 28830990
chr16:28832305 T
T
 C
C
 1 a0001c0010
a0001c0010
 1 HG03098.hp1
HG03098.hp1
 synonymous_variant LOW c.1422T>C
c.1422T>C
 p.Ser474Ser
p.Ser474Ser
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 11/22 1683/4456 1422/3228 474/1075 chr16 28832305
chr16:28832848 C
C
 T
T
 1 a0001c0022
a0001c0022
 1 NA18522.hp1
NA18522.hp1
 synonymous_variant LOW c.1620C>T
c.1620C>T
 p.Phe540Phe
p.Phe540Phe
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 13/22 1881/4456 1620/3228 540/1075 chr16 28832848
chr16:28833118 G
G
 A
A
 1 a0001c0011
a0001c0011
 1 NA18948.hp2
NA18948.hp2
 synonymous_variant LOW c.1719G>A
c.1719G>A
 p.Lys573Lys
p.Lys573Lys
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 14/22 1980/4456 1719/3228 573/1075 chr16 28833118
chr16:28833127 C
C
 A
A
 2 a0001c0002
a0001c0012
a0001c0002
a0001c0012
 25 HG01106.hp2
HG01884.hp1
HG01891.hp2
others(22): Show 
HG01106.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03927.hp1
NA18522.hp2
NA20300.hp2
 synonymous_variant LOW c.1728C>A
c.1728C>A
 p.Pro576Pro
p.Pro576Pro
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 14/22 1989/4456 1728/3228 576/1075 chr16 28833127
chr16:28834127 G
G
 A
A
 2 a0001c0002
a0001c0013
a0001c0002
a0001c0013
 25 HG01106.hp2
HG01884.hp1
HG01891.hp2
others(22): Show 
HG01106.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03654.hp1
NA18522.hp2
NA20300.hp2
 synonymous_variant LOW c.2088G>A
c.2088G>A
 p.Pro696Pro
p.Pro696Pro
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 16/22 2349/4456 2088/3228 696/1075 chr16 28834127
chr16:28834403 C
C
 A
A
 1 a0001c0014
a0001c0014
 1 HG03831.hp1
HG03831.hp1
 synonymous_variant LOW c.2233C>A
c.2233C>A
 p.Arg745Arg
p.Arg745Arg
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 17/22 2494/4456 2233/3228 745/1075 chr16 28834403
chr16:28834519 G
G
 A
A
 1 a0001c0016
a0001c0016
 1 HG03927.hp2
HG03927.hp2
 synonymous_variant LOW c.2259G>A
c.2259G>A
 p.Pro753Pro
p.Pro753Pro
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 18/22 2520/4456 2259/3228 753/1075 chr16 28834519
chr16:28834672 C
C
 T
T
 1 a0001c0004
a0001c0004
 6 HG02559.hp1
HG02572.hp2
HG02647.hp1
others(3): Show 
HG02559.hp1
HG02572.hp2
HG02647.hp1
HG03486.hp2
HG03540.hp1
NA19240.hp2
 synonymous_variant LOW c.2412C>T
c.2412C>T
 p.Pro804Pro
p.Pro804Pro
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 18/22 2673/4456 2412/3228 804/1075 chr16 28834672
chr16:28835644 A
A
 C
C
 1 a0001c0021
a0001c0021
 1 HG01175.hp1
HG01175.hp1
 synonymous_variant LOW c.2781A>C
c.2781A>C
 p.Pro927Pro
p.Pro927Pro
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 21/22 3042/4456 2781/3228 927/1075 chr16 28835644
chr16:28836064 G
G
 C
C
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3027G>C
c.3027G>C
 p.Gly1009Gly
p.Gly1009Gly
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3288/4456 3027/3228 1009/1075 chr16 28836064
chr16:28836067 G
G
 C
C
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3030G>C
c.3030G>C
 p.Val1010Val
p.Val1010Val
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3291/4456 3030/3228 1010/1075 chr16 28836067
chr16:28836070 T
T
 C
C
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3033T>C
c.3033T>C
 p.Pro1011Pro
p.Pro1011Pro
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3294/4456 3033/3228 1011/1075 chr16 28836070
chr16:28836082 T
T
 C
C
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3045T>C
c.3045T>C
 p.Ala1015Ala
p.Ala1015Ala
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3306/4456 3045/3228 1015/1075 chr16 28836082
chr16:28836094 A
A
 T
T
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3057A>T
c.3057A>T
 p.Ser1019Ser
p.Ser1019Ser
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3318/4456 3057/3228 1019/1075 chr16 28836094
chr16:28836124 T
T
 A
A
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3087T>A
c.3087T>A
 p.Gly1029Gly
p.Gly1029Gly
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3348/4456 3087/3228 1029/1075 chr16 28836124
chr16:28836136 C
C
 T
T
 1 a0001c0020
a0001c0020
 1 HG03942.hp2
HG03942.hp2
 synonymous_variant LOW c.3099C>T
c.3099C>T
 p.Gly1033Gly
p.Gly1033Gly
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3360/4456 3099/3228 1033/1075 chr16 28836136
chr16:28836148 A
A
 T
T
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3111A>T
c.3111A>T
 p.Gly1037Gly
p.Gly1037Gly
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3372/4456 3111/3228 1037/1075 chr16 28836148
chr16:28836157 A
A
 T
T
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3120A>T
c.3120A>T
 p.Gly1040Gly
p.Gly1040Gly
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3381/4456 3120/3228 1040/1075 chr16 28836157
chr16:28836187 A
A
 C
C
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3150A>C
c.3150A>C
 p.Ser1050Ser
p.Ser1050Ser
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3411/4456 3150/3228 1050/1075 chr16 28836187
chr16:28836196 G
G
 A
A
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3159G>A
c.3159G>A
 p.Gly1053Gly
p.Gly1053Gly
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3420/4456 3159/3228 1053/1075 chr16 28836196
chr16:28836211 A
A
 T
T
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3174A>T
c.3174A>T
 p.Gly1058Gly
p.Gly1058Gly
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3435/4456 3174/3228 1058/1075 chr16 28836211
chr16:28836226 G
G
 C
C
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3189G>C
c.3189G>C
 p.Leu1063Leu
p.Leu1063Leu
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3450/4456 3189/3228 1063/1075 chr16 28836226
chr16:28836232 G
G
 T
T
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3195G>T
c.3195G>T
 p.Val1065Val
p.Val1065Val
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3456/4456 3195/3228 1065/1075 chr16 28836232
chr16:28836235 G
G
 C
C
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3198G>C
c.3198G>C
 p.Gly1066Gly
p.Gly1066Gly
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3459/4456 3198/3228 1066/1075 chr16 28836235
chr16:28836247 G
G
 C
C
 1 a0001c0012
a0001c0012
 1 HG03927.hp1
HG03927.hp1
 synonymous_variant LOW c.3210G>C
c.3210G>C
 p.Arg1070Arg
p.Arg1070Arg
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3471/4456 3210/3228 1070/1075 chr16 28836247
chr16:28836247 G
G
 T
T
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3210G>T
c.3210G>T
 p.Arg1070Arg
p.Arg1070Arg
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3471/4456 3210/3228 1070/1075 chr16 28836247
chr16:28836251 C
C
 T
T
 1 a0000c0019
a0000c0019
 1 NA18941.hp2
NA18941.hp2
 synonymous_variant LOW c.3214C>T
c.3214C>T
 p.Leu1072Leu
p.Leu1072Leu
 ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 3475/4456 3214/3228 1072/1075 chr16 28836251

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
chr16:28823017 C
C
 T
T
 1 a0001c0001t0016
a0001c0001t0016
 1 HG02451.hp2
HG02451.hp2
 5_prime_UTR_variant MODIFIER c.-243C>T
c.-243C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/22 243 chr16 28823017
chr16:28823057 A
A
 AC
AC
 4 a0001c0001t0003
a0001c0001t0008
a0001c0016t0003
others(1): Show 
a0001c0001t0003
a0001c0001t0008
a0001c0016t0003
a0006c0017t0007
 6 HG00423.hp1
HG01099.hp2
HG02970.hp1
others(3): Show 
HG00423.hp1
HG01099.hp2
HG02970.hp1
HG03579.hp1
HG03927.hp2
NA18980.hp2
 5_prime_UTR_variant MODIFIER c.-198dupC
c.-198dupC
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/22 197 INFO_REALIGN_3_PRIME chr16 28823057
chr16:28823100 C
C
 T
T
 2 a0001c0001t0004
a0004c0026t0004
a0001c0001t0004
a0004c0026t0004
 4 HG01433.hp1
HG02735.hp2
HG03942.hp1
others(1): Show 
HG01433.hp1
HG02735.hp2
HG03942.hp1
HG04204.hp2
 5_prime_UTR_variant MODIFIER c.-160C>T
c.-160C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/22 160 chr16 28823100
chr16:28823116 C
C
 G
G
 1 a0001c0001t0008
a0001c0001t0008
 1 HG02970.hp1
HG02970.hp1
 5_prime_UTR_variant MODIFIER c.-144C>G
c.-144C>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/22 144 chr16 28823116
chr16:28823218 C
C
 T
T
 1 a0001c0001t0005
a0001c0001t0005
 3 HG00639.hp2
HG02683.hp1
HG03490.hp2
HG00639.hp2
HG02683.hp1
HG03490.hp2
 5_prime_UTR_variant MODIFIER c.-42C>T
c.-42C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/22 42 chr16 28823218
chr16:28823242 C
C
 A
A
 1 a0001c0001t0008
a0001c0001t0008
 1 HG02970.hp1
HG02970.hp1
 5_prime_UTR_variant MODIFIER c.-18C>A
c.-18C>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/22 18 chr16 28823242
chr16:28836266 G
G
 A
A
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*1G>A
c.*1G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 1 chr16 28836266
chr16:28836267 G
G
 A
A
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*2G>A
c.*2G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 2 chr16 28836267
chr16:28836275 G
G
 T
T
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*10G>T
c.*10G>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 10 chr16 28836275
chr16:28836285 T
T
 C
C
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*20T>C
c.*20T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 20 chr16 28836285
chr16:28836286 G
G
 T
T
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*21G>T
c.*21G>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 21 chr16 28836286
chr16:28836291 A
A
 T
T
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*26A>T
c.*26A>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 26 chr16 28836291
chr16:28836333 G
G
 A
A
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*68G>A
c.*68G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 68 chr16 28836333
chr16:28836369 T
T
 C
C
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*104T>C
c.*104T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 104 chr16 28836369
chr16:28836370 G
G
 T
T
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*105G>T
c.*105G>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 105 chr16 28836370
chr16:28836371 C
C
 G
G
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*106C>G
c.*106C>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 106 chr16 28836371
chr16:28836381 T
T
 C
C
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*116T>C
c.*116T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 116 chr16 28836381
chr16:28836382 G
G
 C
C
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*117G>C
c.*117G>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 117 chr16 28836382
chr16:28836386 T
T
 C
C
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*121T>C
c.*121T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 121 chr16 28836386
chr16:28836387 T
T
 C
C
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*122T>C
c.*122T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 122 chr16 28836387
chr16:28836389 G
G
 A
A
 1 a0001c0001t0011
a0001c0001t0011
 1 NA18998.hp2
NA18998.hp2
 3_prime_UTR_variant MODIFIER c.*124G>A
c.*124G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 124 chr16 28836389
chr16:28836389 G
G
 T
T
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*124G>T
c.*124G>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 124 chr16 28836389
chr16:28836391 T
T
 C
C
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*126T>C
c.*126T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 126 chr16 28836391
chr16:28836392 T
T
 C
C
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*127T>C
c.*127T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 127 chr16 28836392
chr16:28836425 C
C
 G
G
 1 a0000c0019t0010
a0000c0019t0010
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*160C>G
c.*160C>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 160 chr16 28836425
chr16:28836430 C
C
 T
T
 1 a0001c0001t0015
a0001c0001t0015
 1 NA19055.hp2
NA19055.hp2
 3_prime_UTR_variant MODIFIER c.*165C>T
c.*165C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 165 chr16 28836430
chr16:28836555 TCTGGCTT
others(43): Show 
TCTGGCTTACTGGGAAACAGCGATTGACCTGTGCTTCTGACAGCCCCCGA
G
 T
T
 1 a0006c0017t0007
a0006c0017t0007
 1 HG03579.hp1
HG03579.hp1
 3_prime_UTR_variant MODIFIER c.*291_*340delCTGGCT
others(44): Show 
c.*291_*340delCTGGCTTACTGGGAAACAGCGATTGACCTGTGCTTC
TGACAGCCCCCGAG
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 291 chr16 28836555
chr16:28836576 G
G
 A
A
 1 a0001c0010t0012
a0001c0010t0012
 1 HG03098.hp1
HG03098.hp1
 3_prime_UTR_variant MODIFIER c.*311G>A
c.*311G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 311 chr16 28836576
chr16:28836621 C
C
 T
T
 1 a0001c0001t0014
a0001c0001t0014
 1 HG00544.hp2
HG00544.hp2
 3_prime_UTR_variant MODIFIER c.*356C>T
c.*356C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 356 chr16 28836621
chr16:28836663 T
T
 C
C
 1 a0001c0001t0013
a0001c0001t0013
 1 HG00642.hp2
HG00642.hp2
 3_prime_UTR_variant MODIFIER c.*398T>C
c.*398T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 398 chr16 28836663
chr16:28836873 T
T
 G
G
 2 a0001c0001t0006
a0001c0004t0006
a0001c0001t0006
a0001c0004t0006
 2 HG02559.hp1
NA20129.hp1
HG02559.hp1
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*608T>G
c.*608T>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 608 chr16 28836873
chr16:28837035 C
C
 T
T
 1 a0001c0001t0016
a0001c0001t0016
 1 HG02451.hp2
HG02451.hp2
 3_prime_UTR_variant MODIFIER c.*770C>T
c.*770C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 770 chr16 28837035
chr16:28837187 A
A
 G
G
 3 a0001c0001t0002
a0001c0001t0011
a0002c0028t0009
a0001c0001t0002
a0001c0001t0011
a0002c0028t0009
 31 HG01496.hp2
HG02015.hp2
HG02027.hp2
others(28): Show 
HG01496.hp2
HG02015.hp2
HG02027.hp2
NA18942.hp1
NA18943.hp2
NA18945.hp1
NA18946.hp2
NA18953.hp1
NA18956.hp2
NA18957.hp1
NA18962.hp2
NA18964.hp1
NA18966.hp2
NA18973.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp2
NA18993.hp1
NA18998.hp2
NA19054.hp1
NA19058.hp2
NA19066.hp1
NA19067.hp2
NA19074.hp2
NA19078.hp2
NA19080.hp1
NA19082.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*922A>G
c.*922A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 22/22 922 chr16 28837187

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
chr16:28823562 A
A
 G
G
 1 a0001c0001t0008g0109
a0001c0001t0008g0109
 1 HG02970.hp1
HG02970.hp1
 splice_region_variant&intron_variant LOW c.299+4A>G
c.299+4A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28823562
chr16:28823563 G
G
 A
A
 1 a0001c0001t0008g0109
a0001c0001t0008g0109
 1 HG02970.hp1
HG02970.hp1
 splice_region_variant&intron_variant LOW c.299+5G>A
c.299+5G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28823563
chr16:28823565 A
A
 G
G
 1 a0001c0001t0008g0109
a0001c0001t0008g0109
 1 HG02970.hp1
HG02970.hp1
 splice_region_variant&intron_variant LOW c.299+7A>G
c.299+7A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28823565
chr16:28823634 C
C
 T
T
 1 a0001c0004t0001g0108
a0001c0004t0001g0108
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.299+76C>T
c.299+76C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28823634
chr16:28823683 C
C
 T
T
 4 a0001c0001t0001g0009
a0001c0001t0001g0105
a0001c0001t0001g0106
others(1): Show 
a0001c0001t0001g0009
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
 11 HG00544.hp1
HG00597.hp2
HG00621.hp2
others(8): Show 
HG00544.hp1
HG00597.hp2
HG00621.hp2
HG02071.hp1
HG02083.hp1
NA18945.hp2
NA18966.hp1
NA18980.hp1
NA18981.hp2
NA18993.hp2
NA19055.hp1
 intron_variant MODIFIER c.299+125C>T
c.299+125C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28823683
chr16:28823698 C
C
 T
T
 1 a0001c0001t0001g0104
a0001c0001t0001g0104
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.299+140C>T
c.299+140C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28823698
chr16:28823765 C
C
 A
A
 1 a0001c0001t0008g0109
a0001c0001t0008g0109
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.299+207C>A
c.299+207C>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28823765
chr16:28823773 G
G
 C
C
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.299+215G>C
c.299+215G>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28823773
chr16:28823809 G
G
 T
T
 1 a0001c0001t0001g0103
a0001c0001t0001g0103
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.299+251G>T
c.299+251G>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28823809
chr16:28823909 G
G
 C
C
 2 a0001c0001t0001g0040
a0009c0023t0001g0041
a0001c0001t0001g0040
a0009c0023t0001g0041
 2 HG02523.hp2
NA19084.hp2
HG02523.hp2
NA19084.hp2
 intron_variant MODIFIER c.299+351G>C
c.299+351G>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28823909
chr16:28823952 T
T
 C
C
 1 a0001c0001t0008g0109
a0001c0001t0008g0109
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.299+394T>C
c.299+394T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28823952
chr16:28823968 A
A
 T
T
 1 a0001c0001t0008g0109
a0001c0001t0008g0109
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.299+410A>T
c.299+410A>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28823968
chr16:28823975 G
G
 A
A
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.299+417G>A
c.299+417G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28823975
chr16:28824041 C
C
 T
T
 1 a0001c0001t0001g0103
a0001c0001t0001g0103
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.299+483C>T
c.299+483C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28824041
chr16:28824118 C
C
 T
T
 2 a0001c0002t0001g0027
a0001c0002t0001g0102
a0001c0002t0001g0027
a0001c0002t0001g0102
 4 HG01884.hp1
HG02622.hp2
HG03486.hp1
others(1): Show 
HG01884.hp1
HG02622.hp2
HG03486.hp1
NA20300.hp2
 intron_variant MODIFIER c.299+560C>T
c.299+560C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28824118
chr16:28824127 C
C
 T
T
 1 a0001c0010t0012g0101
a0001c0010t0012g0101
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.299+569C>T
c.299+569C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28824127
chr16:28824359 T
T
 TG
TG
 26 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(23): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 74 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(71): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02257.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp1
HG02698.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA18980.hp1
NA18981.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.299+806dupG
c.299+806dupG
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 INFO_REALIGN_3_PRIME chr16 28824359
chr16:28824361 G
G
 GA
GA
 9 a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
others(6): Show 
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
 24 HG01106.hp2
HG01884.hp1
HG01891.hp2
others(21): Show 
HG01106.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
NA18522.hp2
NA20300.hp2
 intron_variant MODIFIER c.299+803_299+804ins
others(1): Show 
c.299+803_299+804insA
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28824361
chr16:28824468 C
C
 T
T
 1 a0001c0001t0001g0100
a0001c0001t0001g0100
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.300-898C>T
c.300-898C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28824468
chr16:28824487 C
C
 A
A
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 2 HG02280.hp1
HG02976.hp2
HG02280.hp1
HG02976.hp2
 intron_variant MODIFIER c.300-879C>A
c.300-879C>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28824487
chr16:28824579 G
G
 A
A
 60 a0000c0019t0010g0059
a0001c0001t0001g0001
a0001c0001t0001g0006
others(57): Show 
a0000c0019t0010g0059
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0060
a0001c0001t0002g0065
a0001c0001t0002g0068
a0001c0001t0002g0073
a0001c0001t0002g0075
a0001c0001t0003g0001
a0001c0001t0004g0001
a0001c0001t0005g0001
a0001c0001t0005g0078
a0001c0001t0008g0109
a0001c0001t0011g0006
a0001c0001t0014g0001
a0001c0001t0016g0001
a0001c0004t0001g0022
a0001c0004t0001g0070
a0001c0004t0001g0108
a0001c0004t0006g0058
a0001c0007t0001g0076
a0001c0014t0001g0001
a0001c0016t0003g0069
a0001c0020t0001g0006
a0001c0024t0001g0063
a0002c0028t0009g0062
a0004c0026t0004g0001
a0005c0025t0001g0071
a0007c0018t0001g0064
a0011c0008t0001g0001
 168 HG00280.hp1
HG00408.hp2
HG00423.hp1
others(165): Show 
HG00280.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01261.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp2
HG01516.hp2
HG01517.hp2
HG01891.hp1
HG01934.hp2
HG01993.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02895.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18956.hp2
NA18957.hp1
NA18961.hp2
NA18962.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18971.hp1
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18984.hp1
NA18988.hp2
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp1
NA19009.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19066.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp2
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.300-787G>A
c.300-787G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28824579
chr16:28824595 G
G
 A
A
 1 a0001c0004t0006g0058
a0001c0004t0006g0058
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.300-771G>A
c.300-771G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28824595
chr16:28824620 G
G
 T
T
 1 a0001c0001t0001g0057
a0001c0001t0001g0057
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.300-746G>T
c.300-746G>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28824620
chr16:28824838 C
C
 T
T
 1 a0009c0023t0001g0041
a0009c0023t0001g0041
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.300-528C>T
c.300-528C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28824838
chr16:28824884 T
T
 C
C
 34 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(31): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 97 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(94): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.300-482T>C
c.300-482T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28824884
chr16:28825047 T
T
 C
C
 2 a0000c0019t0010g0059
a0001c0001t0001g0103
a0000c0019t0010g0059
a0001c0001t0001g0103
 2 HG02056.hp1
NA18941.hp2
HG02056.hp1
NA18941.hp2
 intron_variant MODIFIER c.300-319T>C
c.300-319T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28825047
chr16:28825057 T
T
 TA
TA
 29 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(26): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0032
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0002g0060
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0003t0001g0081
a0001c0004t0001g0108
a0001c0013t0001g0004
a0001c0021t0001g0004
a0002c0028t0009g0062
a0003c0009t0001g0003
 78 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(75): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02257.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02698.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18947.hp1
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19078.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.300-296dupA
c.300-296dupA
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 INFO_REALIGN_3_PRIME chr16 28825057
chr16:28825058 A
A
 T
T
 4 a0001c0001t0001g0026
a0001c0001t0001g0038
a0001c0001t0001g0098
others(1): Show 
a0001c0001t0001g0026
a0001c0001t0001g0038
a0001c0001t0001g0098
a0001c0001t0001g0099
 7 HG01109.hp2
HG01243.hp1
HG02723.hp1
others(4): Show 
HG01109.hp2
HG01243.hp1
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG03209.hp2
HG03579.hp2
 intron_variant MODIFIER c.300-308A>T
c.300-308A>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28825058
chr16:28825174 G
G
 A
A
 9 a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
others(6): Show 
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
 24 HG01106.hp2
HG01884.hp1
HG01891.hp2
others(21): Show 
HG01106.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
NA18522.hp2
NA20300.hp2
 intron_variant MODIFIER c.300-192G>A
c.300-192G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28825174
chr16:28825317 T
T
 C
C
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.300-49T>C
c.300-49T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 1/21 chr16 28825317
chr16:28825453 T
T
 C
C
 1 a0001c0012t0001g0055
a0001c0012t0001g0055
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.336+51T>C
c.336+51T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 2/21 chr16 28825453
chr16:28825494 A
A
 G
G
 1 a0001c0002t0001g0045
a0001c0002t0001g0045
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.336+92A>G
c.336+92A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 2/21 chr16 28825494
chr16:28825688 G
G
 A
A
 4 a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0028
others(1): Show 
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0028
a0001c0002t0001g0043
 16 HG01106.hp2
HG01891.hp2
HG02055.hp1
others(13): Show 
HG01106.hp2
HG01891.hp2
HG02055.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
NA18522.hp2
 splice_region_variant&intron_variant LOW c.393+8G>A
c.393+8G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 3/21 chr16 28825688
chr16:28825739 G
G
 C
C
 1 a0001c0001t0001g0047
a0001c0001t0001g0047
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.394-31G>C
c.394-31G>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 3/21 chr16 28825739
chr16:28825882 T
T
 G
G
 24 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(21): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 72 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(69): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02257.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp1
HG02698.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.465+41T>G
c.465+41T>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 4/21 chr16 28825882
chr16:28826014 A
A
 T
T
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 3 HG00639.hp1
HG01070.hp1
HG01071.hp2
HG00639.hp1
HG01070.hp1
HG01071.hp2
 intron_variant MODIFIER c.465+173A>T
c.465+173A>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 4/21 chr16 28826014
chr16:28826085 A
A
 G
G
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.466-155A>G
c.466-155A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 4/21 chr16 28826085
chr16:28826180 A
A
 G
G
 1 a0001c0012t0001g0055
a0001c0012t0001g0055
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.466-60A>G
c.466-60A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 4/21 chr16 28826180
chr16:28826194 T
T
 C
C
 48 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0012
others(45): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0012
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0023
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0003t0001g0083
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0001c0024t0001g0063
a0003c0009t0001g0003
 126 HG00099.hp2
HG00558.hp1
HG00609.hp2
others(123): Show 
HG00099.hp2
HG00558.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp1
NA18944.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp2
NA18983.hp1
NA18990.hp1
NA18994.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19077.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp2
NA19087.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.466-46T>C
c.466-46T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 4/21 chr16 28826194
chr16:28826515 T
T
 C
C
 1 a0007c0018t0001g0064
a0007c0018t0001g0064
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.616+125T>C
c.616+125T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 5/21 chr16 28826515
chr16:28826585 A
A
 G
G
 35 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(32): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 98 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(95): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.616+195A>G
c.616+195A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 5/21 chr16 28826585
chr16:28826693 C
C
 T
T
 1 a0001c0002t0001g0043
a0001c0002t0001g0043
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.617-169C>T
c.617-169C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 5/21 chr16 28826693
chr16:28826697 T
T
 C
C
 1 a0001c0001t0001g0010
a0001c0001t0001g0010
 7 HG00642.hp1
HG01123.hp1
HG02056.hp2
others(4): Show 
HG00642.hp1
HG01123.hp1
HG02056.hp2
HG02602.hp2
HG03669.hp2
HG04184.hp2
NA20752.hp2
 intron_variant MODIFIER c.617-165T>C
c.617-165T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 5/21 chr16 28826697
chr16:28826743 G
G
 A
A
 1 a0001c0001t0002g0014
a0001c0001t0002g0014
 4 HG01496.hp2
HG02027.hp2
NA19080.hp1
others(1): Show 
HG01496.hp2
HG02027.hp2
NA19080.hp1
NA19082.hp1
 intron_variant MODIFIER c.617-119G>A
c.617-119G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 5/21 chr16 28826743
chr16:28826752 A
A
 G
G
 115 a0000c0019t0010g0059
a0001c0001t0001g0001
a0001c0001t0001g0003
others(112): Show 
a0000c0019t0010g0059
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0067
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0060
a0001c0001t0002g0068
a0001c0001t0002g0073
a0001c0001t0002g0075
a0001c0001t0003g0001
a0001c0001t0003g0004
a0001c0001t0004g0001
a0001c0001t0005g0001
a0001c0001t0005g0078
a0001c0001t0006g0004
a0001c0001t0008g0109
a0001c0001t0011g0006
a0001c0001t0013g0003
a0001c0001t0014g0001
a0001c0001t0015g0003
a0001c0001t0016g0001
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0003t0001g0008
a0001c0003t0001g0081
a0001c0003t0001g0083
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0004t0001g0022
a0001c0004t0001g0070
a0001c0004t0001g0108
a0001c0004t0006g0058
a0001c0006t0001g0008
a0001c0007t0001g0076
a0001c0010t0012g0101
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0014t0001g0001
a0001c0016t0003g0069
a0001c0020t0001g0006
a0001c0021t0001g0004
a0001c0022t0001g0094
a0001c0024t0001g0063
a0002c0028t0009g0062
a0003c0009t0001g0003
a0004c0026t0004g0001
a0005c0025t0001g0071
a0006c0017t0007g0091
a0007c0018t0001g0064
a0011c0008t0001g0001
 310 HG00099.hp2
HG00280.hp1
HG00408.hp2
others(307): Show 
HG00099.hp2
HG00280.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.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
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp2
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.617-110A>G
c.617-110A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 5/21 chr16 28826752
chr16:28826783 G
G
 A
A
 1 a0001c0001t0001g0034
a0001c0001t0001g0034
 2 NA18999.hp1
NA19012.hp1
NA18999.hp1
NA19012.hp1
 intron_variant MODIFIER c.617-79G>A
c.617-79G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 5/21 chr16 28826783
chr16:28826848 C
C
 T
T
 1 a0001c0002t0001g0019
a0001c0002t0001g0019
 3 HG01891.hp2
HG02451.hp1
NA18522.hp2
HG01891.hp2
HG02451.hp1
NA18522.hp2
 intron_variant MODIFIER c.617-14C>T
c.617-14C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 5/21 chr16 28826848
chr16:28827505 T
T
 C
C
 1 a0001c0001t0003g0088
a0001c0001t0003g0088
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.741+519T>C
c.741+519T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28827505
chr16:28827597 C
C
 T
T
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.741+611C>T
c.741+611C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28827597
chr16:28827756 G
G
 A
A
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 2 HG02809.hp2
HG02922.hp2
HG02809.hp2
HG02922.hp2
 intron_variant MODIFIER c.741+770G>A
c.741+770G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28827756
chr16:28828036 A
A
 G
G
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.741+1050A>G
c.741+1050A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28828036
chr16:28828071 G
G
 A
A
 22 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(19): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 70 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(67): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02257.hp2
HG02300.hp1
HG02523.hp1
HG02698.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.741+1085G>A
c.741+1085G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28828071
chr16:28828104 T
T
 C
C
 33 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(30): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 96 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(93): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.741+1118T>C
c.741+1118T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28828104
chr16:28828253 A
A
 G
G
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.742-1148A>G
c.742-1148A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28828253
chr16:28828314 C
C
 T
T
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 4 NA18939.hp1
NA18948.hp1
NA19000.hp1
others(1): Show 
NA18939.hp1
NA18948.hp1
NA19000.hp1
NA19003.hp1
 intron_variant MODIFIER c.742-1087C>T
c.742-1087C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28828314
chr16:28828414 C
C
 G
G
 23 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(20): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 71 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(68): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02257.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp1
HG02698.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.742-987C>G
c.742-987C>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28828414
chr16:28828432 C
C
 G
G
 1 a0001c0001t0005g0078
a0001c0001t0005g0078
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.742-969C>G
c.742-969C>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28828432
chr16:28828501 G
G
 A
A
 1 a0001c0001t0001g0067
a0001c0001t0001g0067
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.742-900G>A
c.742-900G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28828501
chr16:28828527 C
C
 T
T
 6 a0001c0001t0001g0012
a0001c0001t0001g0018
a0001c0001t0001g0023
others(3): Show 
a0001c0001t0001g0012
a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0087
 17 HG00558.hp1
HG00609.hp2
HG00673.hp2
others(14): Show 
HG00558.hp1
HG00609.hp2
HG00673.hp2
HG02071.hp2
HG02083.hp2
HG02165.hp1
NA18944.hp1
NA18952.hp1
NA18953.hp2
NA18971.hp2
NA18977.hp2
NA18983.hp1
NA18990.hp1
NA18994.hp2
NA19077.hp1
NA19080.hp2
NA19087.hp1
 intron_variant MODIFIER c.742-874C>T
c.742-874C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28828527
chr16:28828590 C
C
 CA
CA
 11 a0000c0019t0010g0059
a0001c0001t0001g0035
a0001c0001t0001g0086
others(8): Show 
a0000c0019t0010g0059
a0001c0001t0001g0035
a0001c0001t0001g0086
a0001c0001t0001g0098
a0001c0001t0001g0105
a0001c0001t0002g0068
a0001c0004t0001g0070
a0001c0016t0003g0069
a0005c0025t0001g0071
a0006c0017t0007g0091
a0008c0015t0001g0089
 12 HG00558.hp1
HG00741.hp2
HG02145.hp1
others(9): Show 
HG00558.hp1
HG00741.hp2
HG02145.hp1
HG02647.hp1
HG02738.hp1
HG03209.hp2
HG03579.hp1
HG03927.hp2
HG04184.hp1
NA18941.hp2
NA18981.hp2
NA18993.hp1
 intron_variant MODIFIER c.742-795dupA
c.742-795dupA
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 INFO_REALIGN_3_PRIME chr16 28828590
chr16:28828590 CA
CA
 C
C
 29 a0001c0001t0001g0003
a0001c0001t0001g0020
a0001c0001t0001g0030
others(26): Show 
a0001c0001t0001g0003
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0012t0001g0055
a0003c0009t0001g0003
 77 HG00639.hp1
HG00642.hp2
HG01070.hp1
others(74): Show 
HG00639.hp1
HG00642.hp2
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03654.hp2
HG03927.hp1
HG04115.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.742-795delA
c.742-795delA
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 INFO_REALIGN_3_PRIME chr16 28828590
chr16:28828609 G
G
 T
T
 33 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(30): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 96 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(93): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.742-792G>T
c.742-792G>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28828609
chr16:28828735 GTTTGTT
GTTTGTT
 G
G
 1 a0001c0001t0001g0013
a0001c0001t0001g0013
 6 NA18947.hp2
NA18977.hp1
NA18981.hp1
others(3): Show 
NA18947.hp2
NA18977.hp1
NA18981.hp1
NA18998.hp1
NA19011.hp1
NA19058.hp1
 intron_variant MODIFIER c.742-644_742-639del
others(6): Show 
c.742-644_742-639delGTTTTT
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 INFO_REALIGN_3_PRIME chr16 28828735
chr16:28828892 C
C
 T
T
 3 a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0104
a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0104
 10 HG01358.hp2
HG02300.hp2
NA18950.hp2
others(7): Show 
HG01358.hp2
HG02300.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18972.hp1
NA18975.hp1
NA18994.hp1
NA19085.hp1
NA19085.hp2
 intron_variant MODIFIER c.742-509C>T
c.742-509C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28828892
chr16:28828941 C
C
 G
G
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA19082.hp2
NA19082.hp2
 intron_variant MODIFIER c.742-460C>G
c.742-460C>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28828941
chr16:28828949 G
G
 A
A
 1 a0001c0001t0001g0072
a0001c0001t0001g0072
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.742-452G>A
c.742-452G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28828949
chr16:28828992 A
A
 G
G
 4 a0001c0001t0001g0009
a0001c0001t0001g0105
a0001c0001t0001g0106
others(1): Show 
a0001c0001t0001g0009
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
 11 HG00544.hp1
HG00597.hp2
HG00621.hp2
others(8): Show 
HG00544.hp1
HG00597.hp2
HG00621.hp2
HG02071.hp1
HG02083.hp1
NA18945.hp2
NA18966.hp1
NA18980.hp1
NA18981.hp2
NA18993.hp2
NA19055.hp1
 intron_variant MODIFIER c.742-409A>G
c.742-409A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28828992
chr16:28829049 G
G
 A
A
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 2 NA18954.hp1
NA18964.hp2
NA18954.hp1
NA18964.hp2
 intron_variant MODIFIER c.742-352G>A
c.742-352G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28829049
chr16:28829060 A
A
 G
G
 22 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(19): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 70 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(67): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02257.hp2
HG02300.hp1
HG02523.hp1
HG02698.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.742-341A>G
c.742-341A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28829060
chr16:28829252 C
C
 T
T
 2 a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0084
a0001c0001t0001g0085
 2 HG02145.hp2
HG02717.hp1
HG02145.hp2
HG02717.hp1
 intron_variant MODIFIER c.742-149C>T
c.742-149C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 6/21 chr16 28829252
chr16:28829591 C
C
 T
T
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.833+99C>T
c.833+99C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 7/21 chr16 28829591
chr16:28829725 C
C
 T
T
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 2 HG02630.hp1
NA19043.hp1
HG02630.hp1
NA19043.hp1
 intron_variant MODIFIER c.834-133C>T
c.834-133C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 7/21 chr16 28829725
chr16:28830148 C
C
 T
T
 1 a0001c0001t0001g0016
a0001c0001t0001g0016
 4 NA18943.hp1
NA18995.hp2
NA19081.hp2
others(1): Show 
NA18943.hp1
NA18995.hp2
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.1034+90C>T
c.1034+90C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 8/21 chr16 28830148
chr16:28830207 G
G
 A
A
 1 a0001c0001t0001g0023
a0001c0001t0001g0023
 3 NA18983.hp1
NA19077.hp1
NA19080.hp2
NA18983.hp1
NA19077.hp1
NA19080.hp2
 intron_variant MODIFIER c.1034+149G>A
c.1034+149G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 8/21 chr16 28830207
chr16:28830305 A
A
 G
G
 3 a0001c0001t0001g0085
a0001c0001t0001g0099
a0001c0022t0001g0094
a0001c0001t0001g0085
a0001c0001t0001g0099
a0001c0022t0001g0094
 3 HG02717.hp1
HG03579.hp2
NA18522.hp1
HG02717.hp1
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1034+247A>G
c.1034+247A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 8/21 chr16 28830305
chr16:28830330 A
A
 G
G
 1 a0001c0001t0001g0057
a0001c0001t0001g0057
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.1034+272A>G
c.1034+272A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 8/21 chr16 28830330
chr16:28830444 G
G
 A
A
 2 a0001c0001t0002g0068
a0001c0001t0002g0073
a0001c0001t0002g0068
a0001c0001t0002g0073
 2 NA18945.hp1
NA18993.hp1
NA18945.hp1
NA18993.hp1
 intron_variant MODIFIER c.1035-171G>A
c.1035-171G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 8/21 chr16 28830444
chr16:28830456 C
C
 T
T
 23 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(20): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 71 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(68): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02257.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp1
HG02698.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1035-159C>T
c.1035-159C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 8/21 chr16 28830456
chr16:28830811 G
G
 GAA
GAA
 7 a0001c0001t0001g0097
a0001c0003t0001g0008
a0001c0003t0001g0081
others(4): Show 
a0001c0001t0001g0097
a0001c0003t0001g0008
a0001c0003t0001g0081
a0001c0003t0001g0083
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0006t0001g0008
 15 HG01884.hp2
HG02055.hp2
HG02280.hp2
others(12): Show 
HG01884.hp2
HG02055.hp2
HG02280.hp2
HG02615.hp1
HG02615.hp2
HG02723.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp2
HG02970.hp2
HG03225.hp1
HG03471.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1210+22_1210+23ins
others(2): Show 
c.1210+22_1210+23insAA
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 9/21 INFO_REALIGN_3_PRIME chr16 28830811
chr16:28830902 G
G
 A
A
 1 a0001c0012t0001g0055
a0001c0012t0001g0055
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.1211-60G>A
c.1211-60G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 9/21 chr16 28830902
chr16:28830911 C
C
 T
T
 3 a0001c0001t0001g0049
a0001c0001t0001g0077
a0001c0007t0001g0076
a0001c0001t0001g0049
a0001c0001t0001g0077
a0001c0007t0001g0076
 3 HG03669.hp1
NA19007.hp1
NA19068.hp2
HG03669.hp1
NA19007.hp1
NA19068.hp2
 intron_variant MODIFIER c.1211-51C>T
c.1211-51C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 9/21 chr16 28830911
chr16:28830934 C
C
 CT
CT
 4 a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0028
others(1): Show 
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0028
a0001c0002t0001g0043
 16 HG01106.hp2
HG01891.hp2
HG02055.hp1
others(13): Show 
HG01106.hp2
HG01891.hp2
HG02055.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
NA18522.hp2
 intron_variant MODIFIER c.1211-27dupT
c.1211-27dupT
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 9/21 INFO_REALIGN_3_PRIME chr16 28830934
chr16:28830936 C
C
 A
A
 4 a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0028
others(1): Show 
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0028
a0001c0002t0001g0043
 16 HG01106.hp2
HG01891.hp2
HG02055.hp1
others(13): Show 
HG01106.hp2
HG01891.hp2
HG02055.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
NA18522.hp2
 intron_variant MODIFIER c.1211-26C>A
c.1211-26C>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 9/21 chr16 28830936
chr16:28830936 C
C
 CA
CA
 11 a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0050
others(8): Show 
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0050
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0084
a0001c0001t0002g0060
a0001c0002t0001g0044
a0001c0016t0003g0069
 15 HG00438.hp1
HG01175.hp2
HG02145.hp2
others(12): Show 
HG00438.hp1
HG01175.hp2
HG02145.hp2
HG03471.hp2
HG03927.hp2
HG04115.hp2
NA18949.hp1
NA18949.hp2
NA18957.hp2
NA18967.hp1
NA19009.hp1
NA19067.hp1
NA19078.hp1
NA19078.hp2
NA19084.hp1
 splice_region_variant&intron_variant LOW c.1211-9dupA
c.1211-9dupA
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 9/21 INFO_REALIGN_3_PRIME chr16 28830936
chr16:28831112 A
A
 G
G
 3 a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0086
a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0086
 8 HG00558.hp1
HG00609.hp2
HG00673.hp2
others(5): Show 
HG00558.hp1
HG00609.hp2
HG00673.hp2
HG02083.hp2
NA18983.hp1
NA18990.hp1
NA19077.hp1
NA19080.hp2
 intron_variant MODIFIER c.1321+40A>G
c.1321+40A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 10/21 chr16 28831112
chr16:28831263 G
G
 GGTTGT
GGTTGT
 23 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(20): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 71 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(68): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp1
HG02257.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp1
HG02698.hp2
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1321+194_1321+198d
others(7): Show 
c.1321+194_1321+198dupTGTGT
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 10/21 INFO_REALIGN_3_PRIME chr16 28831263
chr16:28831314 A
A
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.1321+242A>T
c.1321+242A>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 10/21 chr16 28831314
chr16:28831531 T
T
 C
C
 1 a0001c0001t0001g0107
a0001c0001t0001g0107
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.1321+459T>C
c.1321+459T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 10/21 chr16 28831531
chr16:28831704 C
C
 T
T
 33 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(30): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 96 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(93): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1322-501C>T
c.1322-501C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 10/21 chr16 28831704
chr16:28831797 A
A
 G
G
 33 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(30): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 96 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(93): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1322-408A>G
c.1322-408A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 10/21 chr16 28831797
chr16:28831831 G
G
 C
C
 1 a0001c0002t0001g0045
a0001c0002t0001g0045
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.1322-374G>C
c.1322-374G>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 10/21 chr16 28831831
chr16:28831972 G
G
 A
A
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.1322-233G>A
c.1322-233G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 10/21 chr16 28831972
chr16:28832006 C
C
 G
G
 1 a0001c0001t0001g0090
a0001c0001t0001g0090
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.1322-199C>G
c.1322-199C>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 10/21 chr16 28832006
chr16:28832085 A
A
 T
T
 1 a0001c0010t0012g0101
a0001c0010t0012g0101
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1322-120A>T
c.1322-120A>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 10/21 chr16 28832085
chr16:28832600 T
T
 G
G
 3 a0001c0004t0001g0022
a0001c0004t0001g0070
a0001c0004t0001g0108
a0001c0004t0001g0022
a0001c0004t0001g0070
a0001c0004t0001g0108
 5 HG02572.hp2
HG02647.hp1
HG03486.hp2
others(2): Show 
HG02572.hp2
HG02647.hp1
HG03486.hp2
HG03540.hp1
NA19240.hp2
 intron_variant MODIFIER c.1588+33T>G
c.1588+33T>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 12/21 chr16 28832600
chr16:28832634 G
G
 A
A
 1 a0001c0007t0001g0076
a0001c0007t0001g0076
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.1588+67G>A
c.1588+67G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 12/21 chr16 28832634
chr16:28832737 C
C
 T
T
 1 a0001c0010t0012g0101
a0001c0010t0012g0101
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1589-80C>T
c.1589-80C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 12/21 chr16 28832737
chr16:28832747 T
T
 A
A
 115 a0000c0019t0010g0059
a0001c0001t0001g0001
a0001c0001t0001g0003
others(112): Show 
a0000c0019t0010g0059
a0001c0001t0001g0001
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0060
a0001c0001t0002g0065
a0001c0001t0002g0068
a0001c0001t0002g0073
a0001c0001t0002g0075
a0001c0001t0003g0001
a0001c0001t0003g0004
a0001c0001t0004g0001
a0001c0001t0005g0001
a0001c0001t0005g0078
a0001c0001t0006g0004
a0001c0001t0008g0109
a0001c0001t0011g0006
a0001c0001t0013g0003
a0001c0001t0014g0001
a0001c0001t0015g0003
a0001c0001t0016g0001
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0003t0001g0008
a0001c0003t0001g0081
a0001c0003t0001g0083
a0001c0003t0001g0092
a0001c0003t0001g0093
a0001c0004t0001g0022
a0001c0004t0001g0070
a0001c0004t0001g0108
a0001c0004t0006g0058
a0001c0006t0001g0008
a0001c0007t0001g0076
a0001c0010t0012g0101
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0014t0001g0001
a0001c0016t0003g0069
a0001c0020t0001g0006
a0001c0021t0001g0004
a0001c0022t0001g0094
a0001c0024t0001g0063
a0002c0028t0009g0062
a0003c0009t0001g0003
a0004c0026t0004g0001
a0005c0025t0001g0071
a0007c0018t0001g0064
a0011c0008t0001g0001
 309 HG00099.hp2
HG00280.hp1
HG00408.hp2
others(306): Show 
HG00099.hp2
HG00280.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.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
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1589-70T>A
c.1589-70T>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 12/21 chr16 28832747
chr16:28832942 G
G
 A
A
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 4 NA18971.hp1
NA19000.hp2
NA19062.hp1
others(1): Show 
NA18971.hp1
NA19000.hp2
NA19062.hp1
NA19064.hp1
 intron_variant MODIFIER c.1659+55G>A
c.1659+55G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 13/21 chr16 28832942
chr16:28832963 A
A
 G
G
 33 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(30): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 96 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(93): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1659+76A>G
c.1659+76A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 13/21 chr16 28832963
chr16:28833044 G
G
 A
A
 33 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(30): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 96 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(93): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1660-15G>A
c.1660-15G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 13/21 chr16 28833044
chr16:28833419 T
T
 A
A
 1 a0001c0002t0001g0102
a0001c0002t0001g0102
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1956-20T>A
c.1956-20T>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 14/21 chr16 28833419
chr16:28833706 TGATCAGG
others(1): Show 
TGATCAGGG
 T
T
 33 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(30): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 96 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(93): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2025+207_2025+214d
others(10): Show 
c.2025+207_2025+214delGATCAGGG
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 15/21 INFO_REALIGN_3_PRIME chr16 28833706
chr16:28833839 C
C
 T
T
 6 a0001c0001t0001g0012
a0001c0001t0001g0018
a0001c0001t0001g0023
others(3): Show 
a0001c0001t0001g0012
a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0082
a0001c0001t0001g0086
a0001c0001t0001g0087
 17 HG00558.hp1
HG00609.hp2
HG00673.hp2
others(14): Show 
HG00558.hp1
HG00609.hp2
HG00673.hp2
HG02071.hp2
HG02083.hp2
HG02165.hp1
NA18944.hp1
NA18952.hp1
NA18953.hp2
NA18971.hp2
NA18977.hp2
NA18983.hp1
NA18990.hp1
NA18994.hp2
NA19077.hp1
NA19080.hp2
NA19087.hp1
 intron_variant MODIFIER c.2026-226C>T
c.2026-226C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 15/21 chr16 28833839
chr16:28833868 G
G
 A
A
 1 a0001c0001t0002g0075
a0001c0001t0002g0075
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.2026-197G>A
c.2026-197G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 15/21 chr16 28833868
chr16:28833930 G
G
 A
A
 33 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(30): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 96 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(93): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2026-135G>A
c.2026-135G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 15/21 chr16 28833930
chr16:28833931 T
T
 C
C
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.2026-134T>C
c.2026-134T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 15/21 chr16 28833931
chr16:28834220 A
A
 G
G
 1 a0001c0003t0001g0093
a0001c0003t0001g0093
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.2172+9A>G
c.2172+9A>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 16/21 chr16 28834220
chr16:28834246 G
G
 A
A
 1 a0001c0024t0001g0063
a0001c0024t0001g0063
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.2172+35G>A
c.2172+35G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 16/21 chr16 28834246
chr16:28834263 C
C
 T
T
 40 a0000c0019t0010g0059
a0001c0001t0001g0001
a0001c0001t0001g0009
others(37): Show 
a0000c0019t0010g0059
a0001c0001t0001g0001
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0021
a0001c0001t0001g0031
a0001c0001t0001g0032
a0001c0001t0001g0034
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0061
a0001c0001t0001g0066
a0001c0001t0001g0067
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0100
a0001c0001t0001g0103
a0001c0001t0001g0105
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0003g0001
a0001c0001t0004g0001
a0001c0001t0005g0001
a0001c0001t0005g0078
a0001c0001t0008g0109
a0001c0001t0014g0001
a0001c0001t0016g0001
a0001c0004t0001g0022
a0001c0004t0001g0070
a0001c0004t0001g0108
a0001c0004t0006g0058
a0001c0007t0001g0076
a0001c0014t0001g0001
a0004c0026t0004g0001
a0011c0008t0001g0001
 115 HG00280.hp1
HG00408.hp2
HG00423.hp1
others(112): Show 
HG00280.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01261.hp1
HG01433.hp1
HG01516.hp2
HG01517.hp2
HG01891.hp1
HG01934.hp2
HG01993.hp2
HG02027.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02165.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02895.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03209.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03540.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp2
NA18943.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18951.hp1
NA18961.hp2
NA18966.hp1
NA18971.hp1
NA18972.hp2
NA18980.hp1
NA18981.hp2
NA18988.hp2
NA18993.hp2
NA18995.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19007.hp1
NA19009.hp2
NA19012.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19078.hp1
NA19081.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.2172+52C>T
c.2172+52C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 16/21 chr16 28834263
chr16:28834807 G
G
 C
C
 1 a0008c0015t0001g0089
a0008c0015t0001g0089
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.2433+114G>C
c.2433+114G>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 18/21 chr16 28834807
chr16:28834862 A
A
 C
C
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.2433+169A>C
c.2433+169A>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 18/21 chr16 28834862
chr16:28834863 C
C
 G
G
 1 a0001c0001t0001g0054
a0001c0001t0001g0054
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.2433+170C>G
c.2433+170C>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 18/21 chr16 28834863
chr16:28834873 G
G
 A
A
 1 a0001c0002t0001g0028
a0001c0002t0001g0028
 2 HG02257.hp1
HG02559.hp2
HG02257.hp1
HG02559.hp2
 intron_variant MODIFIER c.2433+180G>A
c.2433+180G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 18/21 chr16 28834873
chr16:28834877 T
T
 C
C
 7 a0001c0001t0002g0005
a0001c0001t0002g0060
a0001c0001t0002g0065
others(4): Show 
a0001c0001t0002g0005
a0001c0001t0002g0060
a0001c0001t0002g0065
a0001c0001t0002g0068
a0001c0001t0002g0073
a0001c0001t0002g0075
a0002c0028t0009g0062
 20 HG02015.hp2
NA18942.hp1
NA18943.hp2
others(17): Show 
HG02015.hp2
NA18942.hp1
NA18943.hp2
NA18945.hp1
NA18946.hp2
NA18953.hp1
NA18956.hp2
NA18957.hp1
NA18964.hp1
NA18966.hp2
NA18973.hp1
NA18983.hp2
NA18984.hp1
NA18993.hp1
NA19054.hp1
NA19066.hp1
NA19067.hp2
NA19078.hp2
NA19090.hp1
NA19090.hp2
 intron_variant MODIFIER c.2434-181T>C
c.2434-181T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 18/21 chr16 28834877
chr16:28834885 C
C
 G
G
 1 a0001c0004t0001g0108
a0001c0004t0001g0108
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.2434-173C>G
c.2434-173C>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 18/21 chr16 28834885
chr16:28834988 G
G
 A
A
 4 a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0028
others(1): Show 
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0028
a0001c0002t0001g0043
 16 HG01106.hp2
HG01891.hp2
HG02055.hp1
others(13): Show 
HG01106.hp2
HG01891.hp2
HG02055.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02559.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
NA18522.hp2
 intron_variant MODIFIER c.2434-70G>A
c.2434-70G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 18/21 chr16 28834988
chr16:28835275 C
C
 T
T
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 HG01934.hp1
HG01934.hp1
 splice_region_variant&intron_variant LOW c.2564-3C>T
c.2564-3C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 19/21 chr16 28835275
chr16:28835519 T
T
 G
G
 33 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(30): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 96 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(93): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2686-30T>G
c.2686-30T>G
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 20/21 chr16 28835519
chr16:28835545 G
G
 A
A
 33 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(30): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 96 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(93): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 splice_region_variant&intron_variant LOW c.2686-4G>A
c.2686-4G>A
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 20/21 chr16 28835545
chr16:28835828 G
G
 C
C
 33 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(30): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0021t0001g0004
a0003c0009t0001g0003
 96 HG00099.hp2
HG00639.hp1
HG00642.hp2
others(93): Show 
HG00099.hp2
HG00639.hp1
HG00642.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03654.hp1
HG03669.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18944.hp2
NA18950.hp1
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18967.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19067.hp1
NA19074.hp1
NA19081.hp1
NA19082.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2895+70G>C
c.2895+70G>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 21/21 chr16 28835828
chr16:28835908 C
C
 T
T
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 2 HG02280.hp1
HG02976.hp2
HG02280.hp1
HG02976.hp2
 intron_variant MODIFIER c.2896-25C>T
c.2896-25C>T
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 21/21 chr16 28835908
chr16:28835925 T
T
 C
C
 66 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0006
others(63): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0012
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0023
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0047
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0050
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0074
a0001c0001t0001g0082
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0002g0005
a0001c0001t0002g0006
a0001c0001t0002g0014
a0001c0001t0002g0060
a0001c0001t0002g0065
a0001c0001t0002g0068
a0001c0001t0002g0073
a0001c0001t0002g0075
a0001c0001t0003g0004
a0001c0001t0006g0004
a0001c0001t0011g0006
a0001c0001t0013g0003
a0001c0001t0015g0003
a0001c0002t0001g0007
a0001c0002t0001g0019
a0001c0002t0001g0027
a0001c0002t0001g0028
a0001c0002t0001g0029
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0045
a0001c0002t0001g0102
a0001c0003t0001g0092
a0001c0012t0001g0055
a0001c0013t0001g0004
a0001c0016t0003g0069
a0001c0020t0001g0006
a0001c0021t0001g0004
a0001c0024t0001g0063
a0002c0028t0009g0062
a0003c0009t0001g0003
a0005c0025t0001g0071
a0007c0018t0001g0064
 177 HG00099.hp2
HG00438.hp2
HG00558.hp1
others(174): Show 
HG00099.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp1
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18979.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18990.hp1
NA18990.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp2
NA19011.hp2
NA19043.hp1
NA19054.hp1
NA19055.hp2
NA19057.hp1
NA19058.hp2
NA19066.hp1
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 splice_region_variant&intron_variant LOW c.2896-8T>C
c.2896-8T>C
ATXN2L ENSG00000168488.19 transcript ENST00000336783.9 protein_coding 21/21 chr16 28835925

  • 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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