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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATXN2_chr12_111447214_111604315	111463001	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0003 a0008c0023t0003	a0008c0023t0003g0119 a0008c0023t0003g0119	1	298	0.0034	12	c.289 others(31): Show c.2896+1660_2896+1661insATGTGTGTGTGT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111463001	C C	CACACACA others(5): Show CACACACACATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02055.hp1 HG02055.hp2 others(9): Show HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp2 HG02486.hp1 HG02630.hp1 HG02717.hp1 HG02970.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 NA18906.hp2	a0003 a0006 a0019 a0003 a0006 a0019	a0003c0004 a0003c0006 a0006c0010 others(1): Show a0003c0004 a0003c0006 a0006c0010 a0019c0027	a0003c0004t0003 a0003c0004t0005 a0003c0006t0003 others(2): Show a0003c0004t0003 a0003c0004t0005 a0003c0006t0003 a0006c0010t0003 a0019c0027t0003	a0003c0004t0003g0089 a0003c0004t0003g0094 a0003c0004t0003g0098 others(9): Show a0003c0004t0003g0089 a0003c0004t0003g0094 a0003c0004t0003g0098 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0005g0091 a0003c0006t0003g0213 a0006c0010t0003g0112 a0006c0010t0003g0113 a0019c0027t0003g0207	12	298	0.0403	12	c.289 others(31): Show c.2896+1660_2896+1661insATATGTGTGTGT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111464247	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 NA19043.hp2 HG02055.hp1 HG02965.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0006 a0003c0004t0003 a0003c0004t0005 a0001c0001t0006 a0003c0004t0003 a0003c0004t0005	a0001c0001t0006g0265 a0003c0004t0003g0106 a0003c0004t0005g0091 a0001c0001t0006g0265 a0003c0004t0003g0106 a0003c0004t0005g0091	3	298	0.0101	12	c.289 others(29): Show c.2896+403_2896+414dupACACACACACAC		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111483194	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0216	1	298	0.0034	12	c.252 others(31): Show c.2524+2059_2524+2070dupGTGTGTGTGTGT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	18/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111493418	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp1 HG02630.hp1 HG02976.hp1	a0003 a0013 a0003 a0013	a0003c0006 a0013c0021 a0003c0006 a0013c0021	a0003c0006t0003 a0013c0021t0003 a0003c0006t0003 a0013c0021t0003	a0003c0006t0003g0213 a0013c0021t0003g0115 a0003c0006t0003g0213 a0013c0021t0003g0115	2	298	0.0067	12	c.193 others(31): Show c.1936-4650_1936-4639dupTTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	14/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553604	A A	AAAATTTT others(5): Show AAAATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18952.hp2 NA18973.hp1 others(1): Show HG03710.hp1 NA18952.hp2 NA18973.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0237 a0001c0001t0004g0246 a0001c0001t0004g0247 others(1): Show a0001c0001t0002g0237 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0293	4	298	0.0134	12	c.348 others(27): Show c.348+553_348+554insAAAAAAAAATTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553604	A A	AAATTTTT others(5): Show AAATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03704.hp1 HG03710.hp2 others(1): Show HG03195.hp2 HG03704.hp1 HG03710.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0229 a0001c0001t0002g0248 a0001c0001t0002g0271 others(1): Show a0001c0001t0002g0229 a0001c0001t0002g0248 a0001c0001t0002g0271 a0001c0001t0004g0296	4	298	0.0134	12	c.348 others(27): Show c.348+553_348+554insAAAAAAAAAATT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111584377	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19030.hp1 NA21309.hp2 HG03098.hp1 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0235 a0001c0001t0006g0267 a0001c0001t0006g0279 a0001c0001t0006g0235 a0001c0001t0006g0267 a0001c0001t0006g0279	3	298	0.0101	12	c.251 others(31): Show c.251+14395_251+14406dupTTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588188	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp2 others(17): Show HG01168.hp2 HG01169.hp2 HG01243.hp2 HG02055.hp2 HG02109.hp2 HG02280.hp2 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 NA19030.hp2 NA19240.hp2 NA21309.hp1	a0003 a0006 a0012 others(3): Show a0003 a0006 a0012 a0013 a0014 a0018	a0003c0004 a0003c0006 a0003c0007 others(5): Show a0003c0004 a0003c0006 a0003c0007 a0006c0010 a0012c0022 a0013c0021 a0014c0020 a0018c0028	a0003c0004t0003 a0003c0004t0008 a0003c0006t0003 others(6): Show a0003c0004t0003 a0003c0004t0008 a0003c0006t0003 a0003c0007t0005 a0006c0010t0003 a0012c0022t0003 a0013c0021t0003 a0014c0020t0003 a0018c0028t0005	a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 others(17): Show a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0008g0215 a0003c0006t0003g0213 a0003c0007t0005g0116 a0006c0010t0003g0112 a0006c0010t0003g0113 a0012c0022t0003g0118 a0013c0021t0003g0115 a0014c0020t0003g0085 a0018c0028t0005g0208	20	298	0.0671	12	c.251 others(31): Show c.251+10584_251+10595dupATTTATTTATTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111590688	A A	AAAAAAAA others(5): Show AAAAAAAAACCAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01884.hp1 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0003 a0006 a0007 others(6): Show a0003 a0006 a0007 a0008 a0012 a0013 a0014 a0018 a0019	a0003c0004 a0003c0006 a0003c0007 others(9): Show a0003c0004 a0003c0006 a0003c0007 a0003c0014 a0006c0010 a0007c0015 a0008c0023 a0012c0022 a0013c0021 a0014c0020 a0018c0028 a0019c0027	a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 others(12): Show a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 a0003c0006t0003 a0003c0007t0003 a0003c0007t0005 a0003c0014t0003 a0006c0010t0003 a0007c0015t0005 a0008c0023t0003 a0012c0022t0003 a0013c0021t0003 a0014c0020t0003 a0018c0028t0005 a0019c0027t0003	a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(38): Show a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0092 a0003c0004t0003g0093 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0110 a0003c0004t0003g0111 a0003c0004t0005g0086 a0003c0004t0005g0087 a0003c0004t0005g0091 a0003c0004t0005g0109 a0003c0004t0008g0215 a0003c0006t0003g0213 a0003c0007t0003g0114 a0003c0007t0003g0117 a0003c0007t0005g0116 a0003c0014t0003g0003 a0006c0010t0003g0112 a0006c0010t0003g0113 a0007c0015t0005g0004 a0008c0023t0003g0119 a0012c0022t0003g0118 a0013c0021t0003g0115 a0014c0020t0003g0085 a0018c0028t0005g0208 a0019c0027t0003g0207	41	298	0.1376	12	c.251 others(29): Show c.251+8095_251+8096insGTGGTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111592782	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02717.hp1 others(3): Show HG01243.hp2 HG02055.hp1 HG02717.hp1 HG03098.hp2 HG03453.hp1 NA19030.hp2	a0003 a0006 a0012 a0003 a0006 a0012	a0003c0004 a0003c0007 a0006c0010 others(1): Show a0003c0004 a0003c0007 a0006c0010 a0012c0022	a0003c0004t0003 a0003c0004t0005 a0003c0007t0005 others(2): Show a0003c0004t0003 a0003c0004t0005 a0003c0007t0005 a0006c0010t0003 a0012c0022t0003	a0003c0004t0003g0092 a0003c0004t0005g0091 a0003c0004t0005g0109 others(3): Show a0003c0004t0003g0092 a0003c0004t0005g0091 a0003c0004t0005g0109 a0003c0007t0005g0116 a0006c0010t0003g0113 a0012c0022t0003g0118	6	298	0.0201	12	c.251 others(29): Show c.251+5990_251+6001dupTTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111596205	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18951.hp2 NA18955.hp2 others(1): Show HG01433.hp1 NA18951.hp2 NA18955.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 others(1): Show a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013	4	298	0.0134	12	c.251 others(29): Show c.251+2567_251+2578dupGTGTGTGTGTGT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598949	G G	GGCTGCGG others(5): Show GGCTGCGGCGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19056.hp2 NA19056.hp2	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0001 a0015c0030t0001	a0015c0030t0001g0210 a0015c0030t0001g0210	1	298	0.0034	12	c.85_ others(17): Show c.85_86insAGCCGCCGCAGC	p.Gln others(23): Show p.Gln28_Pro29insGlnProProGln	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	366/4347	85/3468	29/1155			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598949	G G	GGCTGCGG others(5): Show GGCTGCGGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19074.hp2 NA19074.hp2	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0001 a0016c0029t0001	a0016c0029t0001g0209 a0016c0029t0001g0209	1	298	0.0034	12	c.85_ others(17): Show c.85_86insAGCAGCCGCAGC	p.Gln others(23): Show p.Gln28_Pro29insGlnGlnProGln	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	366/4347	85/3468	29/1155			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598949	G G	GGCTGCTG others(5): Show GGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02965.hp2 HG02965.hp2	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0005 a0018c0028t0005	a0018c0028t0005g0208 a0018c0028t0005g0208	1	298	0.0034	12	c.74_ others(17): Show c.74_85dupAGCAGCAGCAGC	p.Gln others(11): Show p.Gln25_Gln28dup	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	366/4347	85/3468	29/1155			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598963	C C	CTGCTGCT others(5): Show CTGCTGCTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp2 HG01884.hp2	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0001 a0017c0024t0001	a0017c0024t0001g0120 a0017c0024t0001g0120	1	298	0.0034	12	c.71_ others(17): Show c.71_72insACAGCAGCAGCA	p.Gln others(11): Show p.Gln21_Gln24dup	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	352/4347	71/3468	24/1155			chr12	TogoVar
ATXN3_chr14_92053552_92111582	92054321	A A	ATCCTAGA others(5): Show ATCCTAGACGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0117 a0004c0004t0117	a0004c0004t0117g0392 a0004c0004t0117g0392	1	402	0.0025	12	c.99 others(23): Show c.9998_*9999insCCCCGTCTAGGA		ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding					4230		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(5): Show CCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01261.hp1 NA19240.hp1 HG01261.hp1 NA19240.hp1	a0038 a0051 a0038 a0051	a0038c0058 a0051c0064 a0038c0058 a0051c0064	a0038c0058t0070 a0051c0064t0015 a0038c0058t0070 a0051c0064t0015	a0038c0058t0070g0172 a0051c0064t0015g0343 a0038c0058t0070g0172 a0051c0064t0015g0343	2	402	0.0050	12	c.904 others(19): Show c.904_915dupCAGCAGCAGCAG	p.Gln others(13): Show p.Gln302_Gln305dup	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361			chr14	TogoVar
ATXN3_chr14_92053552_92111582	92086253	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0117 a0004c0004t0117	a0004c0004t0117g0392 a0004c0004t0117g0392	1	402	0.0025	12	c.475 others(29): Show c.475+2465_475+2476dupTTTTTTTTTTTT		ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	6/10						chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105619140	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02451.hp2 others(5): Show HG01891.hp1 HG02280.hp2 HG02451.hp2 HG03209.hp1 HG03942.hp2 NA18747.hp1 NA18994.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0005t0007	a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0002g0056 others(5): Show a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0002g0056 a0001c0001t0002g0187 a0001c0001t0010g0051 a0001c0001t0017g0195 a0001c0001t0018g0131 a0001c0005t0007g0209	8	252	0.0318	12	c.151 others(31): Show c.1517+1048_1517+1059dupAAAAAAAAAAAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105662027	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0121 a0001c0001t0047g0121	1	252	0.0040	12	c.578 others(29): Show c.578+3027_578+3038dupGGAAGGAAGGAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(5): Show GTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03209.hp2 HG03579.hp2 HG01891.hp2 HG03209.hp2 HG03579.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0017 a0001c0001t0045 a0006c0010t0031 a0001c0001t0017 a0001c0001t0045 a0006c0010t0031	a0001c0001t0017g0113 a0001c0001t0045g0190 a0006c0010t0031g0204 a0001c0001t0017g0113 a0001c0001t0045g0190 a0006c0010t0031g0204	3	252	0.0119	12	c.578 others(27): Show c.578+490_578+491insTATATACACACA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105671104	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02071.hp2 HG02523.hp2 others(8): Show HG00673.hp2 HG02071.hp2 HG02523.hp2 HG02738.hp2 HG03688.hp2 HG03831.hp1 NA18989.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0029 a0001c0001t0048 a0001c0001t0058 a0001c0001t0062	a0001c0001t0001g0017 a0001c0001t0001g0102 a0001c0001t0002g0053 others(8): Show a0001c0001t0001g0017 a0001c0001t0001g0102 a0001c0001t0002g0053 a0001c0001t0005g0159 a0001c0001t0007g0057 a0001c0001t0010g0091 a0001c0001t0010g0095 a0001c0001t0029g0072 a0001c0001t0048g0132 a0001c0001t0058g0018 a0001c0001t0062g0007	11	252	0.0437	12	c.356 others(29): Show c.356-5828_356-5817dupTTTTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692370	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02965.hp2 HG03041.hp1 others(3): Show HG01981.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0002c0002t0059	a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0008g0075 others(3): Show a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0008g0075 a0001c0001t0009g0020 a0001c0001t0015g0019 a0002c0002t0059g0200	6	252	0.0238	12	c.356 others(31): Show c.356-27094_356-27083dupGGAAGGAAGGAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(5): Show TCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0219	1	252	0.0040	12	c.356 others(31): Show c.356-27137_356-27136insGAGGGAGGAAGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692424	T T	TCCTTCCT others(5): Show TCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0066 a0002c0002t0022g0066	1	252	0.0040	12	c.356 others(31): Show c.356-27137_356-27136insGAGGAAGGAAGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105716665	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0032 a0001c0001t0010g0032	1	252	0.0040	12	c.356 others(31): Show c.356-51389_356-51378dupTGTGTGTGTGTG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727746	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0058 a0001c0001t0018g0058	1	252	0.0040	12	c.355 others(31): Show c.355+60846_355+60857dupTATATATATATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727746	G G	GTGTATAT others(5): Show GTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01952.hp1 HG02071.hp1 others(16): Show HG01934.hp1 HG01952.hp1 HG02071.hp1 HG02132.hp1 HG02451.hp1 HG02559.hp1 HG02896.hp1 HG02965.hp2 HG03471.hp1 HG03491.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA19056.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp2 NA19086.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019	a0001c0001t0001g0106 a0001c0001t0001g0145 a0001c0001t0001g0214 others(16): Show a0001c0001t0001g0106 a0001c0001t0001g0145 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0153 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0147 a0001c0001t0003g0238 a0001c0001t0004g0023 a0001c0001t0006g0117 a0001c0001t0007g0217 a0001c0001t0009g0055 a0001c0001t0010g0228 a0001c0001t0016g0061 a0001c0001t0019g0178	19	252	0.0754	12	c.355 others(31): Show c.355+60857_355+60858insTATATATATACA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727746	G G	GTGTGTAT others(5): Show GTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01978.hp1 HG01934.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0005 a0001c0001t0018	a0001c0001t0005g0027 a0001c0001t0018g0094 a0001c0001t0005g0027 a0001c0001t0018g0094	2	252	0.0079	12	c.355 others(31): Show c.355+60857_355+60858insTATATATACACA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727777	T T	TATATATA others(5): Show TATATATATACAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0126 a0001c0001t0005g0126	1	252	0.0040	12	c.355 others(31): Show c.355+60826_355+60827insGTGTATATATAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727777	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02723.hp1 HG00673.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0219 a0001c0001t0010g0091 a0001c0001t0004g0219 a0001c0001t0010g0091	2	252	0.0079	12	c.355 others(31): Show c.355+60826_355+60827insGTATATATATAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105729301	G G	GAATAAAT others(5): Show GAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18995.hp1 NA19043.hp2 HG03491.hp2 NA18995.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0001t0009 a0001c0006t0001 a0001c0001t0006 a0001c0001t0009 a0001c0006t0001	a0001c0001t0006g0116 a0001c0001t0009g0054 a0001c0006t0001g0112 a0001c0001t0006g0116 a0001c0001t0009g0054 a0001c0006t0001g0112	3	252	0.0119	12	c.355 others(31): Show c.355+59291_355+59302dupTATTTATTTATT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105729301	G G	GAATGAAT others(5): Show GAATGAATAAATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp1 HG02148.hp1 HG01192.hp2 HG01346.hp1 HG02148.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0009 a0001c0001t0016 a0005c0011t0008 a0001c0001t0009 a0001c0001t0016 a0005c0011t0008	a0001c0001t0009g0097 a0001c0001t0016g0176 a0005c0011t0008g0092 a0001c0001t0009g0097 a0001c0001t0016g0176 a0005c0011t0008g0092	3	252	0.0119	12	c.355 others(31): Show c.355+59302_355+59303insTATTTATTCATT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105731761	A A	AAGAAAAG others(5): Show AAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0018 a0001c0001t0058g0018	1	252	0.0040	12	c.355 others(31): Show c.355+56831_355+56842dupCTTTTCTTTTCT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733596	A A	ACCCATCC others(5): Show ACCCATCCATCCT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	252	0.0040	12	c.355 others(31): Show c.355+55007_355+55008insAGGATGGATGGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733601	T T	TCCATCCA others(5): Show TCCATCCACCCAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0202 a0001c0001t0007g0202	1	252	0.0040	12	c.355 others(31): Show c.355+55002_355+55003insTTGGGTGGATGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733617	T T	TTCATCCA others(5): Show TTCATCCATCCAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01978.hp2 HG01099.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0049 a0001c0001t0010 a0001c0001t0049	a0001c0001t0010g0093 a0001c0001t0049g0148 a0001c0001t0010g0093 a0001c0001t0049g0148	2	252	0.0079	12	c.355 others(31): Show c.355+54986_355+54987insGTGGATGGATGA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105737528	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG03225.hp2 others(2): Show HG02280.hp2 HG02451.hp2 HG03225.hp2 HG03688.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0056 a0001c0001t0001 a0001c0001t0009 a0001c0001t0056	a0001c0001t0001g0017 a0001c0001t0001g0205 a0001c0001t0001g0222 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0009g0054 a0001c0001t0056g0210	5	252	0.0198	12	c.355 others(31): Show c.355+51064_355+51075dupACACACACACAC		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105771201	G G	GATAATAA others(5): Show GATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG00741.hp1 others(27): Show HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01081.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01515.hp2 HG01517.hp2 HG02015.hp2 HG02083.hp2 HG02129.hp2 HG02559.hp2 HG02818.hp1 HG03579.hp2 NA18747.hp1 NA18747.hp2 NA18962.hp2 NA18995.hp2 NA19000.hp1 NA19003.hp2 NA19043.hp1 NA19060.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19091.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0028 a0001c0001t0043 a0001c0001t0054 a0006c0010t0031	a0001c0001t0001g0078 a0001c0001t0001g0163 a0001c0001t0001g0181 others(27): Show a0001c0001t0001g0078 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0002g0021 a0001c0001t0002g0049 a0001c0001t0003g0050 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0004g0023 a0001c0001t0004g0128 a0001c0001t0005g0248 a0001c0001t0006g0168 a0001c0001t0006g0197 a0001c0001t0008g0015 a0001c0001t0008g0045 a0001c0001t0009g0055 a0001c0001t0010g0091 a0001c0001t0010g0095 a0001c0001t0011g0099 a0001c0001t0011g0143 a0001c0001t0011g0157 a0001c0001t0015g0125 a0001c0001t0015g0140 a0001c0001t0018g0131 a0001c0001t0019g0063 a0001c0001t0020g0120 a0001c0001t0028g0114 a0001c0001t0043g0105 a0001c0001t0054g0087 a0006c0010t0031g0204	30	252	0.1191	12	c.355 others(31): Show c.355+17391_355+17402dupTATTATTATTAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105790606	T T	TTATCTAT others(5): Show TTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp2 HG02738.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0029 a0001c0001t0006 a0001c0001t0029	a0001c0001t0006g0022 a0001c0001t0029g0072 a0001c0001t0006g0022 a0001c0001t0029g0072	2	252	0.0079	12	c.251 others(29): Show c.251-1910_251-1899dupGATAGATAGATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105790674	A A	ACTATCTA others(5): Show ACTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00558.hp2 others(59): Show HG00280.hp1 HG00280.hp2 HG00558.hp2 HG00642.hp1 HG00738.hp1 HG01081.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01496.hp2 HG01934.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02129.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03942.hp1 NA18943.hp1 NA18945.hp1 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18962.hp1 NA18989.hp1 NA18995.hp2 NA19003.hp1 NA19005.hp1 NA19030.hp2 NA19056.hp2 NA19067.hp1 NA19067.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0041 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0052 a0001c0001t0054 a0001c0004t0010 a0001c0006t0001 a0002c0002t0022 a0002c0002t0033 a0002c0002t0059 a0004c0013t0036	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0044 others(59): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0048 a0001c0001t0002g0142 a0001c0001t0002g0160 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0003g0011 a0001c0001t0003g0070 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0003g0171 a0001c0001t0003g0235 a0001c0001t0004g0039 a0001c0001t0004g0137 a0001c0001t0004g0203 a0001c0001t0004g0219 a0001c0001t0004g0246 a0001c0001t0005g0025 a0001c0001t0005g0126 a0001c0001t0005g0159 a0001c0001t0006g0067 a0001c0001t0007g0057 a0001c0001t0007g0144 a0001c0001t0008g0175 a0001c0001t0009g0020 a0001c0001t0010g0228 a0001c0001t0011g0099 a0001c0001t0011g0143 a0001c0001t0011g0152 a0001c0001t0011g0170 a0001c0001t0013g0236 a0001c0001t0013g0241 a0001c0001t0014g0083 a0001c0001t0015g0019 a0001c0001t0015g0109 a0001c0001t0019g0178 a0001c0001t0020g0120 a0001c0001t0021g0227 a0001c0001t0024g0250 a0001c0001t0027g0008 a0001c0001t0028g0037 a0001c0001t0041g0196 a0001c0001t0046g0138 a0001c0001t0047g0121 a0001c0001t0048g0132 a0001c0001t0052g0133 a0001c0001t0054g0087 a0001c0004t0010g0154 a0001c0006t0001g0112 a0002c0002t0022g0066 a0002c0002t0033g0221 a0002c0002t0059g0200 a0004c0013t0036g0107	62	252	0.2460	12	c.251 others(29): Show c.251-1978_251-1967dupATAGATAGATAG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
ATXN7L2_chr1_109478905_109497734	109482861	C C	CGGGGGGG others(5): Show CGGGGGGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	332	0.0030	12	c.-10 others(23): Show c.-1093_-1092insGGGGGGGGCGGG		ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding					1043		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482861	C C	CGGGGGGG others(5): Show CGGGGGGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01175.hp1 HG01175.hp2 others(1): Show HG01081.hp2 HG01175.hp1 HG01175.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	4	332	0.0121	12	c.-10 others(23): Show c.-1093_-1092insGGGGGGGGGCGG		ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding					1043		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482861	C C	CGGGGGGG others(5): Show CGGGGGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	332	0.0030	12	c.-10 others(23): Show c.-1093_-1092insGGGGGGGGGGCG		ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding					1043		chr1	TogoVar
ATXN7L2_chr1_109478905_109497734	109482862	G G	GGGGGGGG others(5): Show GGGGGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG04184.hp1 HG04184.hp2 HG02280.hp1 HG04184.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	3	332	0.0090	12	c.-10 others(23): Show c.-1092_-1091insGGGGGGGGGGGC		ATXN7L2	ENSG00000162650.17	transcript	ENST00000683729.1	protein_coding					1042		chr1	TogoVar
ATXN7L3B_chr12_74532835_74550430	74536670	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01168.hp1 HG01169.hp1 others(13): Show HG00323.hp1 HG01168.hp1 HG01169.hp1 HG02004.hp2 HG02109.hp2 NA18942.hp2 NA18945.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18986.hp1 NA19003.hp2 NA19058.hp1 NA19058.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0059 a0001c0001t0001 a0001c0001t0003 a0001c0001t0059	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0059g0000 a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0059g0000	16	408	0.0392	12	c.-14 others(23): Show c.-1443_-1442insTTTTTTTTTTTT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					1164		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63912684	G G	GGCAGCAG others(5): Show GGCAGCAGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18960.hp1 NA18960.hp1	a0027 a0027	a0027c0021 a0027c0021	a0027c0021t0003 a0027c0021t0003	a0027c0021t0003g0184 a0027c0021t0003g0184	1	300	0.0033	12	c.107 others(19): Show c.107_118dupAGCAGCAGCAGC	p.Gln others(11): Show p.Gln36_Gln39dup	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	521/7076	119/2679	40/892		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63912714	A A	AGCAGCAG others(5): Show AGCAGCAGCAGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18954.hp1 NA18954.hp1	a0024 a0024	a0024c0022 a0024c0022	a0024c0022t0003 a0024c0022t0003	a0024c0022t0003g0165 a0024c0022t0003g0165	1	300	0.0033	12	c.118 others(19): Show c.118_119insAGCAGCAGCCGC	p.Gln others(23): Show p.Gln39_Pro40insGlnGlnGlnPro	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	521/7076	119/2679	40/892		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63952835	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0292 a0001c0001t0007g0292	1	300	0.0033	12	c.499 others(27): Show c.499+372_499+383dupTTTTTTTTTTTT		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr3	TogoVar

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