Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATRN_chr20_3466018_3656118	3541076	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp1 HG01358.hp2 others(2): Show HG00639.hp1 HG01106.hp1 HG01358.hp2 NA18985.hp1 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0008 a0003c0017 a0001c0007 a0003c0008 a0003c0017	a0001c0007t0006 a0003c0008t0005 a0003c0008t0029 others(1): Show a0001c0007t0006 a0003c0008t0005 a0003c0008t0029 a0003c0017t0021	a0001c0007t0006g0201 a0001c0007t0006g0202 a0003c0008t0005g0197 others(2): Show a0001c0007t0006g0201 a0001c0007t0006g0202 a0003c0008t0005g0197 a0003c0008t0029g0196 a0003c0017t0021g0199	5	220	0.0227	10	c.608 others(25): Show c.608+751_608+760dupTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3609714	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03486.hp1 NA18906.hp1 HG03453.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0027 a0001c0002t0020 a0001c0001t0010 a0001c0001t0027 a0001c0002t0020	a0001c0001t0010g0096 a0001c0001t0027g0095 a0001c0002t0020g0098 a0001c0001t0010g0096 a0001c0001t0027g0095 a0001c0002t0020g0098	3	220	0.0136	10	c.380 others(29): Show c.3801+5480_3801+5489dupGTGTGTGTGT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77538230	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02165.hp1 HG02451.hp1 others(5): Show HG01975.hp2 HG02165.hp1 HG02451.hp1 HG02809.hp2 NA18948.hp1 NA18965.hp1 NA19001.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0004 a0001c0001t0008 a0001c0001t0017 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0017 a0001c0005t0005 a0002c0002t0001	a0001c0001t0004g0187 a0001c0001t0004g0191 a0001c0001t0004g0192 others(5): Show a0001c0001t0004g0187 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0205 a0001c0001t0008g0006 a0001c0001t0017g0183 a0001c0005t0005g0082 a0002c0002t0001g0054	8	218	0.0367	10	c.670 others(31): Show c.6700-14839_6700-14830dupGTGTGTGTGT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77583634	G G	GGAACATA others(3): Show GGAACATACCT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	218	0.0046	10	c.621 others(29): Show c.6217+6190_6217+6199dupAGGTATGTTC	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01358.hp1 HG02074.hp1 others(4): Show HG01081.hp1 HG01358.hp1 HG02074.hp1 NA18988.hp1 NA19060.hp1 NA19074.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0002c0002t0001g0018 a0002c0002t0001g0033 a0002c0002t0001g0058 others(4): Show a0002c0002t0001g0018 a0002c0002t0001g0033 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0002g0057 a0002c0002t0002g0064 a0002c0002t0003g0025	7	218	0.0321	10	c.621 others(29): Show c.6217+4241_6217+4250dupTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp1 HG02717.hp1 others(3): Show HG02257.hp2 HG02615.hp1 HG02717.hp1 NA18944.hp1 NA18962.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0010t0006	a0001c0001t0002g0124 a0001c0001t0002g0142 a0001c0001t0003g0196 others(3): Show a0001c0001t0002g0124 a0001c0001t0002g0142 a0001c0001t0003g0196 a0001c0001t0004g0190 a0001c0001t0006g0179 a0001c0010t0006g0197	6	218	0.0275	10	c.455 others(27): Show c.4557+887_4557+896dupTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAAAAAA others(3): Show AAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03831.hp2 HG01358.hp1 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0028 a0002c0002t0002g0064 a0002c0002t0001g0028 a0002c0002t0002g0064	2	218	0.0092	10	c.380 others(29): Show c.3809+5058_3809+5059insATATTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAAAATA others(3): Show AAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01952.hp1 HG02074.hp1 others(2): Show HG01261.hp1 HG01952.hp1 HG02074.hp1 HG02273.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0016 a0002c0002t0001g0035 a0002c0002t0001g0041 others(2): Show a0002c0002t0001g0016 a0002c0002t0001g0035 a0002c0002t0001g0041 a0002c0002t0001g0060 a0002c0002t0002g0053	5	218	0.0229	10	c.380 others(29): Show c.3809+5058_3809+5059insATATATTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAATATA others(3): Show AAAATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG02071.hp1 others(4): Show HG01516.hp2 HG01517.hp2 HG02071.hp1 NA18955.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0016	a0001c0001t0003g0138 a0002c0002t0001g0018 a0002c0002t0001g0045 others(4): Show a0001c0001t0003g0138 a0002c0002t0001g0018 a0002c0002t0001g0045 a0002c0002t0001g0063 a0002c0002t0002g0206 a0002c0002t0006g0056 a0002c0002t0016g0046	7	218	0.0321	10	c.380 others(29): Show c.3809+5058_3809+5059insATATATATTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0159 a0003c0006t0001g0159	1	218	0.0046	10	c.380 others(29): Show c.3809+5049_3809+5058dupATATATATAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77692846	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	218	0.0046	10	c.484 others(25): Show c.484+968_484+977dupACACACACAC	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	6/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77716319	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	218	0.0046	10	c.133 others(25): Show c.133+811_133+812insATATATATAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77777380	C C	CAACAAAA others(3): Show CAACAAAACAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	218	0.0046	10	c.20+ others(25): Show c.20+8592_20+8601dupTTGTTTTGTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790934	G G	GTATATAT others(3): Show GTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01074.hp1 HG01257.hp2 others(17): Show HG00621.hp1 HG01074.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG02056.hp1 HG02135.hp1 HG02486.hp1 HG03239.hp1 HG03710.hp1 HG03927.hp1 NA18952.hp1 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA19004.hp1 NA19005.hp1 NA19066.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0103 a0001c0001t0001g0132 a0001c0001t0001g0153 others(17): Show a0001c0001t0001g0103 a0001c0001t0001g0132 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0001t0006g0165	20	218	0.0917	10	c.-49 others(21): Show c.-4934_-4933insTATATATATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4719		chrX	TogoVar
ATR_chr3_142444235_142583733	142454437	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG02109.hp2 others(1): Show HG00738.hp1 HG01884.hp1 HG02109.hp2 HG02976.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0007 a0001c0006t0001g0008 a0001c0006t0001g0010 others(1): Show a0001c0006t0001g0007 a0001c0006t0001g0008 a0001c0006t0001g0010 a0001c0006t0001g0015	4	322	0.0124	10	c.765 others(29): Show c.7656-1214_7656-1205dupAAAAAAAAAA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	45/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142472085	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02622.hp1 HG02818.hp1 others(4): Show HG00099.hp1 HG02622.hp1 HG02818.hp1 HG02922.hp1 HG03041.hp2 HG03486.hp1 HG03486.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0004 a0004c0009 others(1): Show a0001c0001 a0001c0004 a0004c0009 a0008c0012	a0001c0001t0001 a0001c0004t0001 a0004c0009t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0004c0009t0001 a0008c0012t0001	a0001c0001t0001g0104 a0001c0004t0001g0149 a0001c0004t0001g0209 others(4): Show a0001c0001t0001g0104 a0001c0004t0001g0149 a0001c0004t0001g0209 a0001c0004t0001g0210 a0004c0009t0001g0148 a0004c0009t0001g0152 a0008c0012t0001g0313	7	322	0.0217	10	c.622 others(29): Show c.6222-1912_6222-1903dupCACACACACA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	36/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142472097	G G	GTGTGTGT others(3): Show GTGTGTGTGTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0320 a0012c0021t0001g0320	1	322	0.0031	10	c.622 others(29): Show c.6222-1915_6222-1914insGACACACACA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	36/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CATTATAT others(3): Show CATTATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp2 HG02280.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0019 a0001c0006t0001g0020 a0001c0006t0001g0019 a0001c0006t0001g0020	2	322	0.0062	10	c.589 others(25): Show c.5898+82_5898+83insTATATATAAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CTATATAT others(3): Show CTATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19060.hp2 NA19070.hp1 others(1): Show NA18971.hp1 NA19060.hp2 NA19070.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0242 a0002c0002t0001g0289 a0002c0002t0001g0300 others(1): Show a0002c0002t0001g0242 a0002c0002t0001g0289 a0002c0002t0001g0300 a0002c0002t0001g0303	4	322	0.0124	10	c.589 others(25): Show c.5898+73_5898+82dupTATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142516984	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02622.hp1 others(5): Show HG02257.hp1 HG02280.hp1 HG02622.hp1 HG02630.hp1 HG02965.hp2 HG03041.hp2 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0149 a0001c0004t0001g0205 a0001c0004t0001g0206 others(5): Show a0001c0004t0001g0149 a0001c0004t0001g0205 a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0210 a0001c0004t0002g0004	8	322	0.0248	10	c.438 others(29): Show c.4383-1479_4383-1470dupATATATATAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	24/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528854	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02523.hp1 HG04199.hp2 others(1): Show HG01358.hp2 HG02523.hp1 HG04199.hp2 NA19057.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0167 a0003c0003t0001g0177 a0003c0003t0001g0184 others(1): Show a0003c0003t0001g0167 a0003c0003t0001g0177 a0003c0003t0001g0184 a0003c0003t0001g0188	4	322	0.0124	10	c.394 others(29): Show c.3946-4665_3946-4656dupATATATATAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(3): Show ATATATATATT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03098.hp1 NA20300.hp1 HG02055.hp1 HG03098.hp1 NA20300.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0200 a0001c0008t0001g0201 a0001c0008t0001g0202 a0001c0008t0001g0200 a0001c0008t0001g0201 a0001c0008t0001g0202	3	322	0.0093	10	c.394 others(29): Show c.3946-4681_3946-4680insAATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(3): Show ATATATATTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02630.hp1 HG02717.hp2 others(1): Show HG01496.hp2 HG02630.hp1 HG02717.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0001 a0001c0004t0002 a0001c0008t0001 a0001c0004t0001 a0001c0004t0002 a0001c0008t0001	a0001c0004t0001g0147 a0001c0004t0002g0003 a0001c0004t0002g0004 others(1): Show a0001c0004t0001g0147 a0001c0004t0002g0003 a0001c0004t0002g0004 a0001c0008t0001g0197	4	322	0.0124	10	c.394 others(29): Show c.3946-4681_3946-4680insAAAATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATTT others(3): Show ATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp1 HG03669.hp1 others(3): Show HG02257.hp1 HG02723.hp1 HG03669.hp1 NA18999.hp2 NA19009.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0093 a0001c0001t0001g0138 a0001c0004t0001g0150 others(3): Show a0001c0001t0001g0093 a0001c0001t0001g0138 a0001c0004t0001g0150 a0001c0004t0001g0154 a0001c0004t0001g0204 a0001c0004t0001g0208	6	322	0.0186	10	c.394 others(29): Show c.3946-4681_3946-4680insAAAAAATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATTTTT others(3): Show ATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03540.hp2 HG03471.hp2 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0001 a0001c0001t0001 a0004c0009t0001	a0001c0001t0001g0107 a0004c0009t0001g0151 a0001c0001t0001g0107 a0004c0009t0001g0151	2	322	0.0062	10	c.394 others(29): Show c.3946-4681_3946-4680insAAAAAAAATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03486.hp2 NA18943.hp2 others(1): Show HG02922.hp1 HG03486.hp2 NA18943.hp2 NA19087.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0001 a0001c0001t0001 a0004c0009t0001	a0001c0001t0001g0077 a0001c0001t0001g0097 a0004c0009t0001g0148 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0097 a0004c0009t0001g0148 a0004c0009t0001g0152	4	322	0.0124	10	c.394 others(29): Show c.3946-4690_3946-4681dupAAAAAAAAAA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142544452	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG04228.hp2 NA18962.hp2 others(2): Show HG02129.hp2 HG04228.hp2 NA18962.hp2 NA18965.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0090 a0001c0001t0001g0108 others(2): Show a0001c0001t0001g0047 a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110	5	322	0.0155	10	c.335 others(29): Show c.3358-1705_3358-1696dupTTTTTTTTTT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45667946	G G	GATATATA others(3): Show GATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	316	0.0032	10	c.-41 others(21): Show c.-4118_-4117insATATATATAT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding		3887		chr22	TogoVar
ATXN10_chr22_45666834_45850307	45707650	G G	GATATAAT others(3): Show GATATAATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	316	0.0032	10	c.647 others(27): Show c.647+4814_647+4823dupATATAATATA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45740719	C C	CACACATA others(3): Show CACACATACAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp2 HG02451.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0296 a0001c0001t0001g0289 a0001c0001t0001g0296	2	316	0.0063	10	c.117 others(27): Show c.1173+182_1173+183insCACATACATA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795354	G G	GATTCTAT others(3): Show GATTCTATTCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00597.hp2 others(24): Show HG00408.hp1 HG00408.hp2 HG00597.hp2 HG01891.hp1 HG01943.hp1 HG02129.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02723.hp2 HG02895.hp1 HG03491.hp2 HG03492.hp2 HG04204.hp2 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18961.hp1 NA18961.hp2 NA19000.hp2 NA19005.hp1 NA19043.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0016	a0001c0001t0001g0012 a0001c0001t0001g0064 a0001c0001t0001g0087 others(24): Show a0001c0001t0001g0012 a0001c0001t0001g0064 a0001c0001t0001g0087 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0304 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0212 a0001c0001t0002g0248 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0011g0135 a0001c0001t0016g0301	27	316	0.0854	10	c.117 others(31): Show c.1174-11544_1174-11535dupATTCTATTCT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795415	A A	ATTCTATT others(3): Show ATTCTATTCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02602.hp1 HG02723.hp2 others(5): Show HG00408.hp1 HG02602.hp1 HG02723.hp2 HG03491.hp2 HG03492.hp2 NA18961.hp1 NA18978.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016	a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0002g0108 others(5): Show a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0120 a0001c0001t0002g0248 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0016g0301	8	316	0.0253	10	c.117 others(31): Show c.1174-11541_1174-11532dupCTATTCTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795415	A A	ATTCTATT others(3): Show ATTCTATTGTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA21309.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0153 a0001c0001t0010g0103 a0001c0001t0002g0153 a0001c0001t0010g0103	2	316	0.0063	10	c.117 others(31): Show c.1174-11537_1174-11536insGTTTTCTATT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45819192	A A	AAATAGAA others(3): Show AAATAGAATAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00738.hp2 others(18): Show HG00544.hp2 HG00597.hp1 HG00738.hp2 HG01243.hp1 HG01255.hp1 HG01943.hp1 HG01975.hp1 HG02135.hp2 HG02965.hp1 HG02970.hp2 HG03195.hp2 HG03225.hp1 HG03669.hp2 HG04199.hp1 NA18522.hp2 NA18954.hp2 NA18981.hp1 NA19007.hp2 NA19011.hp1 NA19066.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0164 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0274 a0001c0001t0001g0289 a0001c0001t0002g0096 a0001c0001t0002g0202 a0001c0001t0003g0122 a0003c0002t0001g0063	21	316	0.0665	10	c.123 others(31): Show c.1237+12221_1237+12230dupAATAGAATAG	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16308322	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG03516.hp2 others(1): Show HG00408.hp2 HG00438.hp1 HG03516.hp2 NA18986.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0004c0015	a0001c0001t0002 a0002c0002t0003 a0002c0004t0001 others(1): Show a0001c0001t0002 a0002c0002t0003 a0002c0004t0001 a0004c0015t0001	a0001c0001t0002g0020 a0002c0002t0003g0133 a0002c0004t0001g0073 others(1): Show a0001c0001t0002g0020 a0002c0002t0003g0133 a0002c0004t0001g0073 a0004c0015t0001g0157	4	182	0.0220	10	c.191 others(29): Show c.1918-1473_1918-1464dupTGTGTGTGTG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16316865	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG03453.hp1 others(2): Show HG01243.hp2 HG02630.hp1 HG03453.hp1 HG03516.hp1 NA19030.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0027 a0001c0028 others(2): Show a0001c0001 a0001c0027 a0001c0028 a0007c0009 a0009c0042	a0001c0001t0011 a0001c0027t0001 a0001c0028t0015 others(2): Show a0001c0001t0011 a0001c0027t0001 a0001c0028t0015 a0007c0009t0035 a0009c0042t0011	a0001c0001t0011g0131 a0001c0027t0001g0024 a0001c0028t0015g0125 others(2): Show a0001c0001t0011g0131 a0001c0027t0001g0024 a0001c0028t0015g0125 a0007c0009t0035g0018 a0009c0042t0011g0047	5	182	0.0275	10	c.191 others(29): Show c.1917+9519_1917+9528dupAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16367333	T T	TTCTCTTT others(3): Show TTCTCTTTCTC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	182	0.0055	10	c.-16 others(31): Show c.-160-38864_-160-38863insGAGAAAGAGA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16454125	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0005 a0008c0012t0005	a0008c0012t0005g0091 a0008c0012t0005g0091	1	182	0.0055	10	c.-16 others(31): Show c.-161+31837_-161+31846dupTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16484991	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01261.hp1 others(8): Show HG00423.hp1 HG00609.hp2 HG01261.hp1 HG01978.hp2 HG03041.hp1 HG03209.hp2 NA18612.hp2 NA18747.hp2 NA18951.hp1 NA18986.hp1 NA18986.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0008 a0013 a0014 a0034	a0001c0001 a0001c0027 a0002c0002 others(6): Show a0001c0001 a0001c0027 a0002c0002 a0004c0023 a0005c0006 a0008c0012 a0013c0013 a0014c0017 a0034c0047	a0001c0001t0002 a0001c0027t0001 a0002c0002t0008 others(7): Show a0001c0001t0002 a0001c0027t0001 a0002c0002t0008 a0002c0002t0043 a0004c0023t0002 a0005c0006t0003 a0008c0012t0005 a0013c0013t0016 a0014c0017t0025 a0034c0047t0002	a0001c0001t0002g0020 a0001c0027t0001g0107 a0002c0002t0008g0063 others(8): Show a0001c0001t0002g0020 a0001c0027t0001g0107 a0002c0002t0008g0063 a0002c0002t0008g0138 a0002c0002t0043g0175 a0004c0023t0002g0035 a0005c0006t0003g0166 a0008c0012t0005g0092 a0013c0013t0016g0153 a0014c0017t0025g0142 a0034c0047t0002g0029	11	182	0.0604	10	c.-16 others(27): Show c.-161+980_-161+981insTACACACACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(3): Show TATATATACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0040 a0006c0008t0040	a0006c0008t0040g0154 a0006c0008t0040g0154	1	182	0.0055	10	c.-36 others(29): Show c.-360-3377_-360-3376insGTGTATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(3): Show AAGGAAAGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02896.hp2 others(4): Show HG01884.hp2 HG02055.hp2 HG02896.hp2 HG03098.hp1 HG03139.hp2 NA19030.hp2 NA19240.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0016 a0024 a0038	a0001c0001 a0003c0051 a0005c0006 others(3): Show a0001c0001 a0003c0051 a0005c0006 a0016c0014 a0024c0018 a0038c0033	a0001c0001t0011 a0003c0051t0010 a0005c0006t0003 others(3): Show a0001c0001t0011 a0003c0051t0010 a0005c0006t0003 a0016c0014t0012 a0024c0018t0012 a0038c0033t0002	a0001c0001t0011g0131 a0003c0051t0010g0173 a0005c0006t0003g0051 others(4): Show a0001c0001t0011g0131 a0003c0051t0010g0173 a0005c0006t0003g0051 a0005c0006t0003g0114 a0016c0014t0012g0135 a0024c0018t0012g0148 a0038c0033t0002g0004	7	182	0.0385	10	c.-36 others(31): Show c.-361+23326_-361+23327insCTCCTTTCCT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16586043	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01261.hp2 HG02809.hp2 others(1): Show HG01074.hp1 HG01261.hp2 HG02809.hp2 HG03130.hp2	a0002 a0007 a0033 a0002 a0007 a0033	a0002c0002 a0007c0059 a0033c0044 a0002c0002 a0007c0059 a0033c0044	a0002c0002t0001 a0002c0002t0003 a0007c0059t0012 others(1): Show a0002c0002t0001 a0002c0002t0003 a0007c0059t0012 a0033c0044t0024	a0002c0002t0001g0071 a0002c0002t0003g0061 a0007c0059t0012g0030 others(1): Show a0002c0002t0001g0071 a0002c0002t0003g0061 a0007c0059t0012g0030 a0033c0044t0024g0048	4	182	0.0220	10	c.-48 others(27): Show c.-488-146_-488-137dupTGTGTGTGTG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16586043	G G	GCGCACAC others(3): Show GCGCACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00597.hp1 others(15): Show HG00408.hp1 HG00438.hp2 HG00597.hp1 HG01884.hp2 HG02055.hp2 HG02056.hp2 HG02132.hp2 HG02258.hp1 HG02523.hp1 HG02630.hp1 HG02896.hp1 HG03209.hp1 NA18942.hp1 NA18951.hp2 NA18957.hp1 NA18973.hp1 NA19009.hp1 NA19240.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009 a0011 a0018 a0020 a0038	a0001c0028 a0002c0002 a0002c0004 others(9): Show a0001c0028 a0002c0002 a0002c0004 a0004c0005 a0005c0006 a0006c0046 a0008c0024 a0009c0042 a0011c0007 a0018c0054 a0020c0020 a0038c0033	a0001c0028t0015 a0002c0002t0002 a0002c0002t0008 others(10): Show a0001c0028t0015 a0002c0002t0002 a0002c0002t0008 a0002c0004t0001 a0004c0005t0002 a0005c0006t0003 a0006c0046t0001 a0008c0024t0001 a0009c0042t0011 a0011c0007t0002 a0018c0054t0001 a0020c0020t0032 a0038c0033t0002	a0001c0028t0015g0017 a0002c0002t0002g0090 a0002c0002t0008g0081 others(15): Show a0001c0028t0015g0017 a0002c0002t0002g0090 a0002c0002t0008g0081 a0002c0002t0008g0140 a0002c0004t0001g0080 a0002c0004t0001g0174 a0004c0005t0002g0072 a0004c0005t0002g0096 a0004c0005t0002g0160 a0005c0006t0003g0051 a0005c0006t0003g0114 a0006c0046t0001g0012 a0008c0024t0001g0143 a0009c0042t0011g0047 a0011c0007t0002g0169 a0018c0054t0001g0115 a0020c0020t0032g0099 a0038c0033t0002g0004	18	182	0.0989	10	c.-48 others(27): Show c.-488-137_-488-136insTGTGTGTGCG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16644563	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18951.hp2 HG00423.hp2 NA18951.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0002 a0001c0001t0001 a0004c0005t0002	a0001c0001t0001g0105 a0004c0005t0002g0160 a0001c0001t0001g0105 a0004c0005t0002g0160	2	182	0.0110	10	c.-48 others(31): Show c.-489+13203_-489+13212dupACACACACAC	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16682203	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0160 a0004c0005t0002g0160	1	182	0.0055	10	c.-61 others(31): Show c.-614-24312_-614-24303dupAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16687657	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00642.hp1 others(13): Show HG00438.hp2 HG00597.hp1 HG00642.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01243.hp2 HG02055.hp1 HG02155.hp2 HG02602.hp2 HG04199.hp2 NA18612.hp2 NA18906.hp1 NA18942.hp2 NA18946.hp1 NA19007.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0006 a0007 a0009 a0011 a0012 a0015 a0024 a0033	a0001c0001 a0001c0027 a0002c0002 others(10): Show a0001c0001 a0001c0027 a0002c0002 a0002c0004 a0004c0031 a0006c0008 a0007c0009 a0009c0016 a0011c0007 a0012c0011 a0015c0030 a0024c0018 a0033c0044	a0001c0001t0001 a0001c0027t0001 a0002c0002t0002 others(12): Show a0001c0001t0001 a0001c0027t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0041 a0002c0004t0001 a0004c0031t0002 a0006c0008t0046 a0007c0009t0002 a0009c0016t0007 a0011c0007t0002 a0012c0011t0023 a0015c0030t0004 a0024c0018t0001 a0033c0044t0024	a0001c0001t0001g0123 a0001c0001t0001g0159 a0001c0027t0001g0024 others(13): Show a0001c0001t0001g0123 a0001c0001t0001g0159 a0001c0027t0001g0024 a0002c0002t0002g0090 a0002c0002t0008g0138 a0002c0002t0041g0079 a0002c0004t0001g0174 a0004c0031t0002g0101 a0006c0008t0046g0062 a0007c0009t0002g0056 a0009c0016t0007g0151 a0011c0007t0002g0097 a0012c0011t0023g0023 a0015c0030t0004g0032 a0024c0018t0001g0009 a0033c0044t0024g0048	16	182	0.0879	10	c.-61 others(31): Show c.-614-29766_-614-29757dupGTGTGTGTGT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730483	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02280.hp1 HG02523.hp2 others(2): Show HG00423.hp1 HG02280.hp1 HG02523.hp2 NA18906.hp2 NA19007.hp1	a0001 a0010 a0013 a0001 a0010 a0013	a0001c0001 a0010c0010 a0013c0013 a0001c0001 a0010c0010 a0013c0013	a0001c0001t0001 a0001c0001t0005 a0010c0010t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0010c0010t0006 a0013c0013t0016	a0001c0001t0001g0103 a0001c0001t0005g0085 a0010c0010t0006g0112 others(2): Show a0001c0001t0001g0103 a0001c0001t0005g0085 a0010c0010t0006g0112 a0010c0010t0006g0113 a0013c0013t0016g0153	5	182	0.0275	10	c.-61 others(31): Show c.-615+22749_-615+22750insTATATATATA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18944.hp2 HG02055.hp1 NA18944.hp2	a0002 a0024 a0002 a0024	a0002c0002 a0024c0018 a0002c0002 a0024c0018	a0002c0002t0009 a0024c0018t0001 a0002c0002t0009 a0024c0018t0001	a0002c0002t0009g0094 a0024c0018t0001g0009 a0002c0002t0009g0094 a0024c0018t0001g0009	2	182	0.0110	10	c.-61 others(31): Show c.-615+22736_-615+22745dupTATATATATA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTATGTAT others(3): Show GTATGTATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03492.hp1 HG02155.hp2 HG03492.hp1	a0001 a0023 a0001 a0023	a0001c0001 a0023c0034 a0001c0001 a0023c0034	a0001c0001t0001 a0023c0034t0002 a0001c0001t0001 a0023c0034t0002	a0001c0001t0001g0123 a0023c0034t0002g0124 a0001c0001t0001g0123 a0023c0034t0002g0124	2	182	0.0110	10	c.-61 others(31): Show c.-615+22745_-615+22746insTATATACATA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTGTATAT others(3): Show GTGTATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01884.hp2 HG03225.hp2 others(3): Show HG00597.hp2 HG01884.hp2 HG03225.hp2 HG04199.hp2 NA18612.hp1 NA18972.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0012	a0001c0001 a0002c0004 a0004c0005 others(2): Show a0001c0001 a0002c0004 a0004c0005 a0005c0006 a0012c0011	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0004c0005t0002 a0005c0006t0003 a0012c0011t0023	a0001c0001t0001g0043 a0001c0001t0002g0077 a0002c0004t0001g0046 others(3): Show a0001c0001t0001g0043 a0001c0001t0002g0077 a0002c0004t0001g0046 a0004c0005t0002g0122 a0005c0006t0003g0114 a0012c0011t0023g0023	6	182	0.0330	10	c.-61 others(31): Show c.-615+22745_-615+22746insTATATATACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar

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