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
ATXN10_chr22_45666834_45850307	45753377	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp1 NA19240.hp2 HG02976.hp1 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286	3	316	0.0095	-12	c.117 others(33): Show c.1173+12876_1173+12887delTTTTTTTTTTTT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45827129	CCACACAC others(5): Show CCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01106.hp2 others(20): Show HG00099.hp2 HG00735.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01433.hp1 HG01884.hp1 HG02055.hp2 HG02109.hp2 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0016	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 others(20): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0274 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0181 a0001c0001t0003g0308 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0011g0135 a0001c0001t0016g0301	23	316	0.0728	-12	c.123 others(33): Show c.1238-15830_1238-15819delACACACACACAC		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16327633	GTGCTGCT others(5): Show GTGCTGCTGCTGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00438.hp1 HG00597.hp2 others(23): Show HG00408.hp1 HG00438.hp1 HG00597.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02735.hp1 HG03492.hp1 HG03834.hp2 HG06807.hp2 NA18747.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18973.hp1 NA18993.hp1 NA18993.hp2 NA19009.hp2 NA19062.hp1	a0004 a0011 a0020 others(2): Show a0004 a0011 a0020 a0023 a0029	a0004c0005 a0004c0015 a0004c0023 others(7): Show a0004c0005 a0004c0015 a0004c0023 a0004c0031 a0004c0041 a0011c0007 a0020c0020 a0023c0034 a0023c0035 a0029c0057	a0004c0005t0002 a0004c0005t0008 a0004c0015t0001 others(11): Show a0004c0005t0002 a0004c0005t0008 a0004c0015t0001 a0004c0023t0002 a0004c0023t0009 a0004c0031t0002 a0004c0041t0001 a0011c0007t0002 a0011c0007t0003 a0020c0020t0026 a0020c0020t0032 a0023c0034t0002 a0023c0035t0001 a0029c0057t0001	a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 others(23): Show a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 a0004c0005t0002g0122 a0004c0005t0002g0160 a0004c0005t0002g0167 a0004c0005t0002g0177 a0004c0005t0008g0068 a0004c0015t0001g0152 a0004c0015t0001g0157 a0004c0015t0001g0176 a0004c0023t0002g0035 a0004c0023t0009g0110 a0004c0031t0002g0101 a0004c0041t0001g0156 a0011c0007t0002g0040 a0011c0007t0002g0097 a0011c0007t0002g0162 a0011c0007t0002g0169 a0011c0007t0002g0172 a0011c0007t0003g0066 a0020c0020t0026g0088 a0020c0020t0032g0099 a0023c0034t0002g0124 a0023c0035t0001g0064 a0029c0057t0001g0016	26	182	0.1429	-12	c.666 others(19): Show c.666_677delGCAGCAGCAGCA	p.Gln others(13): Show p.Gln222_Gln225del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1569/10557	666/2448	222/815			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327678	ATGCTGAT others(5): Show ATGCTGATGCTGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp2 HG02280.hp2	a0025 a0025	a0025c0062 a0025c0062	a0025c0062t0038 a0025c0062t0038	a0025c0062t0038g0087 a0025c0062t0038g0087	1	182	0.0055	-12	c.621 others(19): Show c.621_632delGCAGCATCAGCA	p.Gln others(13): Show p.Gln207_Gln210del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1524/10557	621/2448	207/815			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16372930	TAAATAAA others(5): Show TAAATAAACAAAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG06807.hp2 HG03130.hp2 HG06807.hp2	a0007 a0029 a0007 a0029	a0007c0059 a0029c0057 a0007c0059 a0029c0057	a0007c0059t0012 a0029c0057t0001 a0007c0059t0012 a0029c0057t0001	a0007c0059t0012g0030 a0029c0057t0001g0016 a0007c0059t0012g0030 a0029c0057t0001g0016	2	182	0.0110	-12	c.-16 others(33): Show c.-160-44472_-160-44461delGTTTGTTTATTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16372934	TAAACAAA others(5): Show TAAACAAACAAAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(93): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18960.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19062.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0023 a0025 a0026 a0027 a0028 a0030 a0031 a0033 a0037 a0038	a0001c0001 a0001c0027 a0001c0028 others(37): Show a0001c0001 a0001c0027 a0001c0028 a0001c0029 a0002c0002 a0002c0004 a0003c0003 a0003c0050 a0003c0051 a0004c0015 a0004c0023 a0006c0008 a0007c0009 a0008c0012 a0008c0024 a0009c0016 a0009c0025 a0010c0010 a0010c0039 a0011c0007 a0012c0011 a0013c0038 a0014c0017 a0015c0030 a0015c0055 a0016c0014 a0017c0022 a0018c0054 a0019c0026 a0021c0021 a0023c0035 a0025c0062 a0026c0061 a0027c0049 a0028c0053 a0030c0058 a0031c0048 a0033c0044 a0037c0032 a0038c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(58): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0027t0001 a0001c0028t0015 a0001c0029t0048 a0002c0002t0008 a0002c0002t0009 a0002c0002t0041 a0002c0002t0043 a0002c0004t0001 a0002c0004t0017 a0003c0003t0001 a0003c0003t0002 a0003c0003t0013 a0003c0003t0021 a0003c0003t0022 a0003c0050t0045 a0003c0051t0010 a0004c0015t0001 a0004c0023t0009 a0006c0008t0010 a0006c0008t0011 a0007c0009t0002 a0007c0009t0035 a0008c0012t0005 a0008c0024t0001 a0009c0016t0001 a0009c0025t0033 a0010c0010t0006 a0010c0039t0001 a0011c0007t0002 a0011c0007t0003 a0012c0011t0004 a0012c0011t0023 a0013c0038t0034 a0014c0017t0004 a0014c0017t0025 a0015c0030t0004 a0015c0030t0014 a0015c0055t0004 a0016c0014t0007 a0017c0022t0001 a0018c0054t0001 a0019c0026t0001 a0019c0026t0019 a0021c0021t0004 a0021c0021t0014 a0023c0035t0001 a0025c0062t0038 a0026c0061t0036 a0027c0049t0003 a0028c0053t0004 a0030c0058t0018 a0031c0048t0042 a0033c0044t0024 a0037c0032t0002 a0038c0033t0002	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0083 others(93): Show a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0011g0131 a0001c0001t0020g0002 a0001c0001t0029g0145 a0001c0001t0030g0021 a0001c0027t0001g0024 a0001c0027t0001g0107 a0001c0028t0015g0017 a0001c0028t0015g0125 a0001c0029t0048g0031 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0116 a0002c0002t0008g0140 a0002c0002t0009g0094 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0001g0046 a0002c0004t0001g0073 a0002c0004t0001g0080 a0002c0004t0001g0084 a0002c0004t0001g0093 a0002c0004t0001g0174 a0002c0004t0001g0182 a0002c0004t0017g0121 a0002c0004t0017g0179 a0003c0003t0001g0039 a0003c0003t0001g0042 a0003c0003t0001g0049 a0003c0003t0001g0109 a0003c0003t0002g0120 a0003c0003t0013g0033 a0003c0003t0021g0003 a0003c0003t0022g0119 a0003c0050t0045g0147 a0003c0051t0010g0173 a0004c0015t0001g0152 a0004c0015t0001g0176 a0004c0023t0009g0110 a0006c0008t0010g0038 a0006c0008t0011g0053 a0007c0009t0002g0126 a0007c0009t0035g0018 a0008c0012t0005g0092 a0008c0024t0001g0143 a0009c0016t0001g0034 a0009c0025t0033g0165 a0010c0010t0006g0008 a0010c0010t0006g0014 a0010c0010t0006g0052 a0010c0010t0006g0112 a0010c0010t0006g0113 a0010c0039t0001g0181 a0011c0007t0002g0169 a0011c0007t0002g0172 a0011c0007t0003g0066 a0012c0011t0004g0050 a0012c0011t0004g0086 a0012c0011t0004g0144 a0012c0011t0004g0161 a0012c0011t0023g0023 a0013c0038t0034g0139 a0014c0017t0004g0044 a0014c0017t0004g0171 a0014c0017t0025g0142 a0015c0030t0004g0032 a0015c0030t0014g0102 a0015c0055t0004g0067 a0016c0014t0007g0155 a0017c0022t0001g0104 a0017c0022t0001g0146 a0018c0054t0001g0115 a0019c0026t0001g0098 a0019c0026t0019g0001 a0021c0021t0004g0069 a0021c0021t0014g0082 a0023c0035t0001g0064 a0025c0062t0038g0087 a0026c0061t0036g0095 a0027c0049t0003g0149 a0028c0053t0004g0065 a0030c0058t0018g0054 a0031c0048t0042g0026 a0033c0044t0024g0048 a0037c0032t0002g0170 a0038c0033t0002g0004	96	182	0.5275	-12	c.-16 others(33): Show c.-160-44476_-160-44465delGTTTGTTTGTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16378537	CTTTATTT others(5): Show CTTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG06807.hp2 HG03130.hp2 HG06807.hp2	a0007 a0029 a0007 a0029	a0007c0059 a0029c0057 a0007c0059 a0029c0057	a0007c0059t0012 a0029c0057t0001 a0007c0059t0012 a0029c0057t0001	a0007c0059t0012g0030 a0029c0057t0001g0016 a0007c0059t0012g0030 a0029c0057t0001g0016	2	182	0.0110	-12	c.-16 others(33): Show c.-160-50079_-160-50068delTAAATAAATAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16402242	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03098.hp1 HG00642.hp1 HG03098.hp1	a0006 a0016 a0006 a0016	a0006c0008 a0016c0014 a0006c0008 a0016c0014	a0006c0008t0046 a0016c0014t0012 a0006c0008t0046 a0016c0014t0012	a0006c0008t0046g0062 a0016c0014t0012g0135 a0006c0008t0046g0062 a0016c0014t0012g0135	2	182	0.0110	-12	c.-16 others(33): Show c.-160-73784_-160-73773delAAAAAAAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16439355	GGGGGGCG others(5): Show GGGGGGCGGGGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01070.hp1 others(26): Show HG00140.hp1 HG00140.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp2 HG01496.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG02965.hp1 HG03209.hp1 HG03225.hp2 HG03688.hp1 HG03834.hp1 HG04115.hp2 NA18522.hp2 NA20752.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0006 a0007 a0010 a0011 a0012 a0014 a0015 a0019 a0028 a0030 a0033 a0036	a0001c0001 a0001c0028 a0002c0002 others(15): Show a0001c0001 a0001c0028 a0002c0002 a0003c0003 a0006c0008 a0006c0043 a0007c0009 a0010c0010 a0011c0007 a0012c0011 a0014c0017 a0015c0030 a0015c0055 a0019c0026 a0028c0053 a0030c0058 a0033c0044 a0036c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0044 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0044 a0001c0028t0015 a0002c0002t0010 a0003c0003t0001 a0003c0003t0002 a0003c0003t0009 a0003c0003t0013 a0006c0008t0011 a0006c0043t0010 a0007c0009t0002 a0010c0010t0006 a0011c0007t0002 a0012c0011t0004 a0014c0017t0004 a0015c0030t0004 a0015c0030t0014 a0015c0055t0004 a0019c0026t0001 a0019c0026t0019 a0028c0053t0004 a0030c0058t0018 a0033c0044t0024 a0036c0037t0001	a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0108 others(26): Show a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0002g0077 a0001c0001t0044g0118 a0001c0028t0015g0017 a0002c0002t0010g0015 a0003c0003t0001g0180 a0003c0003t0002g0120 a0003c0003t0009g0055 a0003c0003t0013g0033 a0006c0008t0011g0053 a0006c0043t0010g0128 a0007c0009t0002g0028 a0010c0010t0006g0052 a0011c0007t0002g0162 a0012c0011t0004g0086 a0012c0011t0004g0144 a0012c0011t0004g0161 a0014c0017t0004g0044 a0015c0030t0004g0032 a0015c0030t0014g0102 a0015c0055t0004g0067 a0019c0026t0001g0098 a0019c0026t0019g0001 a0028c0053t0004g0065 a0030c0058t0018g0054 a0033c0044t0024g0048 a0036c0037t0001g0117	29	182	0.1593	-12	c.-16 others(33): Show c.-161+46605_-161+46616delGGCCCCGCCCCC		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16466317	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp1 HG02257.hp1 HG03139.hp1	a0005 a0032 a0005 a0032	a0005c0006 a0032c0045 a0005c0006 a0032c0045	a0005c0006t0009 a0032c0045t0018 a0005c0006t0009 a0032c0045t0018	a0005c0006t0009g0163 a0032c0045t0018g0059 a0005c0006t0009g0163 a0032c0045t0018g0059	2	182	0.0110	-12	c.-16 others(33): Show c.-161+19643_-161+19654delTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16471191	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02155.hp2 HG02132.hp1 HG02155.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0123 a0002c0004t0001g0093 a0001c0001t0001g0123 a0002c0004t0001g0093	2	182	0.0110	-12	c.-16 others(33): Show c.-161+14769_-161+14780delGTGTGTGTGTGT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16480154	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00609.hp1 others(28): Show HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00609.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01978.hp2 HG02135.hp2 HG02602.hp2 HG02735.hp2 HG02886.hp2 HG03041.hp1 HG03209.hp2 HG03516.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18986.hp1 NA18986.hp2 NA18993.hp2 NA19062.hp2 NA20300.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0011 a0012 a0013 a0014 a0016 a0017 a0026 a0034	a0001c0001 a0001c0027 a0002c0002 others(18): Show a0001c0001 a0001c0027 a0002c0002 a0002c0004 a0003c0003 a0003c0050 a0004c0005 a0004c0023 a0004c0041 a0005c0006 a0008c0012 a0008c0024 a0009c0016 a0011c0007 a0012c0011 a0013c0013 a0014c0017 a0016c0014 a0017c0022 a0026c0061 a0034c0047	a0001c0001t0002 a0001c0001t0029 a0001c0027t0001 others(25): Show a0001c0001t0002 a0001c0001t0029 a0001c0027t0001 a0002c0002t0003 a0002c0002t0008 a0002c0002t0043 a0002c0004t0001 a0002c0004t0017 a0003c0003t0001 a0003c0003t0002 a0003c0050t0045 a0004c0005t0002 a0004c0023t0002 a0004c0041t0001 a0005c0006t0003 a0008c0012t0005 a0008c0024t0001 a0009c0016t0007 a0011c0007t0003 a0012c0011t0004 a0013c0013t0005 a0013c0013t0016 a0014c0017t0025 a0016c0014t0007 a0016c0014t0027 a0017c0022t0001 a0026c0061t0036 a0034c0047t0002	a0001c0001t0002g0020 a0001c0001t0002g0129 a0001c0001t0029g0145 others(28): Show a0001c0001t0002g0020 a0001c0001t0002g0129 a0001c0001t0029g0145 a0001c0027t0001g0107 a0002c0002t0003g0007 a0002c0002t0003g0133 a0002c0002t0008g0063 a0002c0002t0043g0175 a0002c0004t0001g0073 a0002c0004t0017g0121 a0003c0003t0001g0130 a0003c0003t0002g0120 a0003c0050t0045g0147 a0004c0005t0002g0075 a0004c0023t0002g0035 a0004c0041t0001g0156 a0005c0006t0003g0166 a0008c0012t0005g0091 a0008c0024t0001g0074 a0009c0016t0007g0151 a0011c0007t0003g0066 a0012c0011t0004g0050 a0013c0013t0005g0036 a0013c0013t0016g0153 a0014c0017t0025g0142 a0016c0014t0007g0155 a0016c0014t0027g0134 a0017c0022t0001g0104 a0017c0022t0001g0146 a0026c0061t0036g0095 a0034c0047t0002g0029	31	182	0.1703	-12	c.-16 others(31): Show c.-161+5806_-161+5817delTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16536718	CTGCAATG others(5): Show CTGCAATGTGCAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0021 a0001c0001t0030g0021	1	182	0.0055	-12	c.-36 others(33): Show c.-360-14042_-360-14031delTTGCACATTGCA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16566858	AAACAACA others(5): Show AAACAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0016 a0013c0013t0016	a0013c0013t0016g0153 a0013c0013t0016g0153	1	182	0.0055	-12	c.-36 others(33): Show c.-361+18910_-361+18921delGTTGTTGTTGTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16581195	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02723.hp1 others(1): Show HG01884.hp2 HG02055.hp2 HG02723.hp1 NA19240.hp1	a0005 a0009 a0038 a0005 a0009 a0038	a0005c0006 a0009c0025 a0038c0033 a0005c0006 a0009c0025 a0038c0033	a0005c0006t0003 a0009c0025t0033 a0038c0033t0002 a0005c0006t0003 a0009c0025t0033 a0038c0033t0002	a0005c0006t0003g0051 a0005c0006t0003g0114 a0009c0025t0033g0165 others(1): Show a0005c0006t0003g0051 a0005c0006t0003g0114 a0009c0025t0033g0165 a0038c0033t0002g0004	4	182	0.0220	-12	c.-36 others(31): Show c.-361+4573_-361+4584delCACACACACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16581214	TGTGTGTG others(5): Show TGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19030.hp1 HG01884.hp1 NA19030.hp1	a0001 a0022 a0001 a0022	a0001c0001 a0022c0019 a0001c0001 a0022c0019	a0001c0001t0020 a0022c0019t0001 a0001c0001t0020 a0022c0019t0001	a0001c0001t0020g0002 a0022c0019t0001g0025 a0001c0001t0020g0002 a0022c0019t0001g0025	2	182	0.0110	-12	c.-36 others(31): Show c.-361+4554_-361+4565delGCACACACACAC		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16654541	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	182	0.0055	-12	c.-48 others(31): Show c.-489+3223_-489+3234delTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16654557	AAAAAAAA others(5): Show AAAAAAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	182	0.0055	-12	c.-48 others(31): Show c.-489+3207_-489+3218delCTCTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16679372	GTGGATGG others(5): Show GTGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(106): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01109.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01978.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03492.hp2 HG03516.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18993.hp1 NA18993.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0018 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0029 a0030 a0032 a0033 a0034	a0001c0001 a0001c0027 a0001c0028 others(44): Show a0001c0001 a0001c0027 a0001c0028 a0001c0029 a0001c0052 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0004c0015 a0004c0023 a0004c0031 a0004c0041 a0005c0006 a0005c0060 a0006c0008 a0006c0043 a0006c0046 a0007c0009 a0007c0059 a0008c0012 a0009c0016 a0009c0025 a0009c0042 a0010c0010 a0011c0007 a0012c0011 a0013c0013 a0013c0038 a0014c0017 a0016c0014 a0017c0022 a0017c0040 a0018c0056 a0020c0020 a0021c0021 a0022c0019 a0023c0035 a0024c0018 a0025c0062 a0026c0061 a0027c0049 a0029c0057 a0030c0058 a0032c0045 a0033c0044 a0034c0047	a0001c0001t0001 a0001c0001t0005 a0001c0001t0020 others(72): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0027t0001 a0001c0028t0015 a0001c0029t0048 a0001c0052t0047 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0016 a0002c0004t0001 a0002c0004t0017 a0003c0003t0001 a0003c0003t0009 a0003c0003t0013 a0003c0003t0022 a0003c0003t0037 a0004c0005t0002 a0004c0015t0001 a0004c0023t0002 a0004c0023t0009 a0004c0031t0002 a0004c0041t0001 a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 a0005c0060t0006 a0006c0008t0010 a0006c0008t0011 a0006c0043t0010 a0006c0046t0001 a0007c0009t0002 a0007c0009t0035 a0007c0009t0049 a0007c0059t0012 a0008c0012t0005 a0009c0016t0001 a0009c0016t0028 a0009c0025t0031 a0009c0025t0033 a0009c0042t0011 a0010c0010t0006 a0011c0007t0002 a0011c0007t0003 a0012c0011t0004 a0013c0013t0005 a0013c0013t0016 a0013c0038t0034 a0014c0017t0004 a0014c0017t0025 a0016c0014t0012 a0017c0022t0001 a0017c0040t0007 a0018c0056t0007 a0020c0020t0032 a0021c0021t0014 a0022c0019t0001 a0023c0035t0001 a0024c0018t0001 a0024c0018t0012 a0025c0062t0038 a0026c0061t0036 a0027c0049t0003 a0029c0057t0001 a0030c0058t0018 a0032c0045t0018 a0033c0044t0024 a0034c0047t0002	a0001c0001t0001g0043 a0001c0001t0001g0103 a0001c0001t0001g0105 others(106): Show a0001c0001t0001g0043 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0178 a0001c0001t0005g0085 a0001c0001t0020g0002 a0001c0001t0029g0145 a0001c0001t0030g0021 a0001c0027t0001g0024 a0001c0027t0001g0107 a0001c0028t0015g0125 a0001c0029t0048g0031 a0001c0052t0047g0060 a0002c0002t0001g0071 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0003g0061 a0002c0002t0007g0136 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0116 a0002c0002t0008g0138 a0002c0002t0008g0140 a0002c0002t0009g0094 a0002c0002t0010g0015 a0002c0002t0016g0111 a0002c0004t0001g0046 a0002c0004t0001g0073 a0002c0004t0001g0084 a0002c0004t0001g0093 a0002c0004t0001g0174 a0002c0004t0017g0179 a0003c0003t0001g0039 a0003c0003t0001g0049 a0003c0003t0009g0055 a0003c0003t0013g0033 a0003c0003t0022g0119 a0003c0003t0037g0150 a0004c0005t0002g0075 a0004c0005t0002g0122 a0004c0005t0002g0160 a0004c0005t0002g0177 a0004c0015t0001g0152 a0004c0015t0001g0176 a0004c0023t0002g0035 a0004c0023t0009g0110 a0004c0031t0002g0101 a0004c0041t0001g0156 a0005c0006t0003g0006 a0005c0006t0003g0057 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0006t0009g0163 a0005c0060t0006g0132 a0006c0008t0010g0038 a0006c0008t0011g0053 a0006c0043t0010g0128 a0006c0046t0001g0012 a0007c0009t0002g0028 a0007c0009t0002g0056 a0007c0009t0002g0126 a0007c0009t0002g0164 a0007c0009t0035g0018 a0007c0009t0049g0005 a0007c0059t0012g0030 a0008c0012t0005g0091 a0008c0012t0005g0168 a0009c0016t0001g0034 a0009c0016t0028g0141 a0009c0025t0031g0058 a0009c0025t0033g0165 a0009c0042t0011g0047 a0010c0010t0006g0112 a0010c0010t0006g0113 a0011c0007t0002g0040 a0011c0007t0002g0097 a0011c0007t0002g0169 a0011c0007t0003g0066 a0012c0011t0004g0050 a0012c0011t0004g0086 a0012c0011t0004g0144 a0012c0011t0004g0161 a0013c0013t0005g0036 a0013c0013t0005g0100 a0013c0013t0016g0153 a0013c0038t0034g0139 a0014c0017t0004g0044 a0014c0017t0025g0142 a0016c0014t0012g0135 a0017c0022t0001g0146 a0017c0040t0007g0022 a0018c0056t0007g0011 a0020c0020t0032g0099 a0021c0021t0014g0082 a0022c0019t0001g0025 a0022c0019t0001g0127 a0023c0035t0001g0064 a0024c0018t0001g0009 a0024c0018t0012g0148 a0025c0062t0038g0087 a0026c0061t0036g0095 a0027c0049t0003g0149 a0029c0057t0001g0016 a0030c0058t0018g0054 a0032c0045t0018g0059 a0033c0044t0024g0048 a0034c0047t0002g0029	109	182	0.5989	-12	c.-61 others(33): Show c.-614-21483_-614-21472delTCCATCCATCCA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16714175	CACACACC others(5): Show CACACACCACACA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0004 a0012c0011t0004	a0012c0011t0004g0050 a0012c0011t0004g0050	1	182	0.0055	-12	c.-61 others(33): Show c.-615+39046_-615+39057delTGTGTGGTGTGT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16714181	CCACACAC others(5): Show CCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0010 a0003c0051t0010	a0003c0051t0010g0173 a0003c0051t0010g0173	1	182	0.0055	-12	c.-61 others(33): Show c.-615+39040_-615+39051delTGTGTGTGTGTG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28822935	GCCCCCCC others(5): Show GCCCCCCCCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00621.hp2 others(10): Show HG00544.hp1 HG00597.hp2 HG00621.hp2 HG02056.hp1 HG02071.hp1 HG04184.hp1 NA18747.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18975.hp1 NA18980.hp1 NA19000.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0025 a0001c0001 a0005c0025	a0001c0001t0001 a0005c0025t0001 a0001c0001t0001 a0005c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0103 a0001c0001t0001g0106 a0005c0025t0001g0071	13	382	0.0340	-12	c.-32 others(21): Show c.-324_-313delCCCCCCCCCCCC		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding					63		chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28823252	CTGCCATC others(5): Show CTGCCATCATGTT	C C	start_lost others(1): Show start_lost conservative_inframe_deletion	HIGH	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0009 a0002c0028t0009	a0002c0028t0009g0062 a0002c0028t0009g0062	1	382	0.0026	-12	c.-7_ others(16): Show c.-7_5delTGCCATCATGTT	p.Met others(9): Show p.Met1_Leu2del	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	1/22	255/4456	1/3228	1/1075			chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28830647	TCCGGGAA others(5): Show TCCGGGAAGGTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19084.hp2 NA19084.hp2	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0001 a0009c0023t0001	a0009c0023t0001g0041 a0009c0023t0001g0041	1	382	0.0026	-12	c.107 others(21): Show c.1073_1084delAAGGTCCCCGGG	p.Glu others(13): Show p.Glu358_Arg361del	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	9/22	1334/4456	1073/3228	358/1075		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATXN2_chr12_111447214_111604315	111467307	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0187 a0001c0003t0001g0187	1	298	0.0034	-12	c.284 others(31): Show c.2843-2604_2843-2593delAAAAAAAAAAAA		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	20/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp2 HG01884.hp1 others(1): Show HG00099.hp2 HG01243.hp2 HG01884.hp1 HG02886.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0003c0004 a0012c0022 a0001c0001 a0003c0004 a0012c0022	a0001c0001t0002 a0003c0004t0003 a0003c0004t0005 others(1): Show a0001c0001t0002 a0003c0004t0003 a0003c0004t0005 a0012c0022t0003	a0001c0001t0002g0250 a0003c0004t0003g0103 a0003c0004t0005g0086 others(1): Show a0001c0001t0002g0250 a0003c0004t0003g0103 a0003c0004t0005g0086 a0012c0022t0003g0118	4	298	0.0134	-12	c.251 others(29): Show c.251+9781_251+9792delTTTTTTTTTTTT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111596205	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp2 others(25): Show HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01943.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2	a0003 a0006 a0008 others(4): Show a0003 a0006 a0008 a0012 a0013 a0018 a0019	a0003c0004 a0003c0006 a0003c0007 others(7): Show a0003c0004 a0003c0006 a0003c0007 a0003c0014 a0006c0010 a0008c0023 a0012c0022 a0013c0021 a0018c0028 a0019c0027	a0003c0004t0003 a0003c0004t0005 a0003c0006t0003 others(9): Show a0003c0004t0003 a0003c0004t0005 a0003c0006t0003 a0003c0007t0003 a0003c0007t0005 a0003c0014t0003 a0006c0010t0003 a0008c0023t0003 a0012c0022t0003 a0013c0021t0003 a0018c0028t0005 a0019c0027t0003	a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 others(25): Show a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0111 a0003c0004t0005g0109 a0003c0006t0003g0213 a0003c0007t0003g0117 a0003c0007t0005g0116 a0003c0014t0003g0003 a0006c0010t0003g0112 a0006c0010t0003g0113 a0008c0023t0003g0119 a0012c0022t0003g0118 a0013c0021t0003g0115 a0018c0028t0005g0208 a0019c0027t0003g0207	28	298	0.0940	-12	c.251 others(29): Show c.251+2567_251+2578delGTGTGTGTGTGT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598949	GGCTGCTG others(5): Show GGCTGCTGCTGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18942.hp1 NA18991.hp2 NA18942.hp1 NA18991.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0198 a0004c0013t0001g0199 a0004c0013t0001g0198 a0004c0013t0001g0199	2	298	0.0067	-12	c.74_ others(17): Show c.74_85delAGCAGCAGCAGC	p.Gln others(11): Show p.Gln25_Gln28del	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	366/4347	74/3468	25/1155			chr12	TogoVar
ATXN3_chr14_92053552_92111582	92097642	CAGCCTAC others(5): Show CAGCCTACCAAGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01978.hp2 HG02040.hp1 others(18): Show HG00408.hp2 HG01978.hp2 HG02040.hp1 HG02165.hp1 HG02738.hp1 HG03491.hp2 HG03492.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18971.hp1 NA18980.hp1 NA19059.hp2 NA19064.hp2 NA19067.hp2 NA19084.hp2 NA19089.hp2 NA19091.hp2	a0004 a0011 a0016 a0004 a0011 a0016	a0004c0004 a0011c0065 a0016c0042 a0004c0004 a0011c0065 a0016c0042	a0004c0004t0005 a0004c0004t0022 a0004c0004t0117 others(2): Show a0004c0004t0005 a0004c0004t0022 a0004c0004t0117 a0011c0065t0116 a0016c0042t0005	a0004c0004t0005g0296 a0004c0004t0005g0297 a0004c0004t0005g0301 others(17): Show a0004c0004t0005g0296 a0004c0004t0005g0297 a0004c0004t0005g0301 a0004c0004t0005g0302 a0004c0004t0005g0303 a0004c0004t0005g0304 a0004c0004t0005g0305 a0004c0004t0005g0306 a0004c0004t0005g0308 a0004c0004t0005g0309 a0004c0004t0005g0310 a0004c0004t0005g0311 a0004c0004t0005g0312 a0004c0004t0022g0006 a0004c0004t0022g0298 a0004c0004t0022g0307 a0004c0004t0117g0392 a0011c0065t0116g0388 a0016c0042t0005g0299 a0016c0042t0005g0300	21	402	0.0522	-12	c.25- others(25): Show c.25-816_25-805delACTTGGTAGGCT		ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	1/10						chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105604255	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0060 a0001c0001t0015g0060	1	252	0.0040	-12	c.35 others(23): Show c.3585_*3596delTTTTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding					516		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619528	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	252	0.0040	-12	c.151 others(29): Show c.1517+660_1517+671delAAAAAAAAAATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619530	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG01261.hp2 others(8): Show HG01109.hp1 HG01168.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp1 HG01981.hp2 HG02132.hp2 HG02523.hp1 HG03471.hp2 NA18995.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0001t0019 a0001c0001t0026 a0001c0001t0054 a0001c0001t0055 a0002c0002t0030	a0001c0001t0001g0185 a0001c0001t0002g0010 a0001c0001t0003g0043 others(8): Show a0001c0001t0001g0185 a0001c0001t0002g0010 a0001c0001t0003g0043 a0001c0001t0008g0073 a0001c0001t0008g0089 a0001c0001t0014g0166 a0001c0001t0019g0063 a0001c0001t0026g0189 a0001c0001t0054g0087 a0001c0001t0055g0252 a0002c0002t0030g0212	11	252	0.0437	-12	c.151 others(29): Show c.1517+658_1517+669delAAAAAAAAAAAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105628792	CAAATAAA others(5): Show CAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG01175.hp2 others(33): Show HG00741.hp1 HG01074.hp2 HG01175.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02148.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0011 a0001c0001 a0002c0002 a0005c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0035 a0001c0001t0047 a0001c0001t0055 a0001c0001t0057 a0002c0002t0022 a0002c0002t0030 a0002c0002t0032 a0002c0002t0033 a0002c0002t0059 a0005c0011t0008	a0001c0001t0001g0082 a0001c0001t0001g0108 a0001c0001t0004g0135 others(33): Show a0001c0001t0001g0082 a0001c0001t0001g0108 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0211 a0001c0001t0004g0219 a0001c0001t0005g0206 a0001c0001t0006g0024 a0001c0001t0006g0067 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0168 a0001c0001t0006g0197 a0001c0001t0010g0228 a0001c0001t0013g0156 a0001c0001t0016g0069 a0001c0001t0016g0139 a0001c0001t0017g0113 a0001c0001t0018g0058 a0001c0001t0022g0224 a0001c0001t0024g0250 a0001c0001t0027g0008 a0001c0001t0029g0215 a0001c0001t0035g0151 a0001c0001t0047g0121 a0001c0001t0055g0252 a0001c0001t0057g0229 a0002c0002t0022g0066 a0002c0002t0022g0220 a0002c0002t0030g0208 a0002c0002t0030g0212 a0002c0002t0032g0149 a0002c0002t0032g0226 a0002c0002t0033g0221 a0002c0002t0059g0200 a0005c0011t0008g0092	36	252	0.1429	-12	c.120 others(31): Show c.1203-4537_1203-4526delATTTATTTATTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	7/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105645810	CACAAACA others(5): Show CACAAACAAACAA	C C	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	252	0.0040	-12	c.579 others(29): Show c.579-2701_579-2690delTTGTTTGTTTGT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105662019	TTTCTTTC others(5): Show TTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01255.hp2 others(9): Show HG00741.hp2 HG01109.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01884.hp2 HG02559.hp2 HG02630.hp2 HG03098.hp1 NA18522.hp1 NA18522.hp2 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0039 a0001c0001t0053 a0001c0001t0057 a0007c0009t0007	a0001c0001t0001g0225 a0001c0001t0004g0135 a0001c0001t0004g0211 others(9): Show a0001c0001t0001g0225 a0001c0001t0004g0135 a0001c0001t0004g0211 a0001c0001t0006g0197 a0001c0001t0012g0122 a0001c0001t0019g0062 a0001c0001t0020g0169 a0001c0001t0026g0189 a0001c0001t0039g0180 a0001c0001t0053g0031 a0001c0001t0057g0229 a0007c0009t0007g0096	12	252	0.0476	-12	c.578 others(29): Show c.578+3035_578+3046delGGAAAGAAAGAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105662023	TTTCTTTC others(5): Show TTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01515.hp1 HG01516.hp2 others(17): Show HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02027.hp1 HG02155.hp2 HG02572.hp1 HG02630.hp1 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03209.hp1 HG03579.hp2 NA18948.hp1 NA19066.hp2 NA19074.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0034 a0001c0001t0044 a0001c0001t0051 a0006c0010t0031	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0002g0021 others(17): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0002g0021 a0001c0001t0002g0056 a0001c0001t0002g0167 a0001c0001t0002g0177 a0001c0001t0003g0100 a0001c0001t0007g0202 a0001c0001t0007g0217 a0001c0001t0009g0055 a0001c0001t0009g0141 a0001c0001t0013g0243 a0001c0001t0017g0195 a0001c0001t0017g0213 a0001c0001t0021g0184 a0001c0001t0023g0183 a0001c0001t0034g0068 a0001c0001t0044g0110 a0001c0001t0051g0035 a0006c0010t0031g0204	20	252	0.0794	-12	c.578 others(29): Show c.578+3031_578+3042delGGAAGGAAAGAA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105671104	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	252	0.0040	-12	c.356 others(29): Show c.356-5828_356-5817delTTTTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105685044	GATAATAA others(5): Show GATAATAATAATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02055.hp1 HG02083.hp1 HG00673.hp2 HG02055.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0022 a0001c0001t0001 a0001c0001t0010 a0001c0001t0022	a0001c0001t0001g0174 a0001c0001t0010g0091 a0001c0001t0022g0224 a0001c0001t0001g0174 a0001c0001t0010g0091 a0001c0001t0022g0224	3	252	0.0119	-12	c.356 others(31): Show c.356-19768_356-19757delTATTATTATTAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105692416	TCCTTCCT others(5): Show TCCTTCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG02818.hp1 others(2): Show HG02572.hp1 HG02723.hp2 HG02818.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0034 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0034 a0001c0001t0046 a0002c0002t0022	a0001c0001t0001g0181 a0001c0001t0004g0135 a0001c0001t0034g0068 others(2): Show a0001c0001t0001g0181 a0001c0001t0004g0135 a0001c0001t0034g0068 a0001c0001t0046g0138 a0002c0002t0022g0220	5	252	0.0198	-12	c.356 others(31): Show c.356-27140_356-27129delGAGGAAGGAAGG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105716665	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02559.hp2 others(3): Show HG01257.hp2 HG01258.hp1 HG02559.hp2 HG02895.hp2 NA18957.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0020 a0001c0001t0031	a0001c0001t0002g0053 a0001c0001t0003g0029 a0001c0001t0006g0197 others(3): Show a0001c0001t0002g0053 a0001c0001t0003g0029 a0001c0001t0006g0197 a0001c0001t0013g0156 a0001c0001t0020g0169 a0001c0001t0031g0172	6	252	0.0238	-12	c.356 others(31): Show c.356-51389_356-51378delTGTGTGTGTGTG		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105722560	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	252	0.0040	-12	c.356 others(31): Show c.356-57284_356-57273delTTTTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105724573	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02135.hp1 NA18995.hp2 others(1): Show HG01261.hp1 HG02135.hp1 NA18995.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0023 a0001c0001t0054	a0001c0001t0001g0108 a0001c0001t0011g0143 a0001c0001t0023g0247 others(1): Show a0001c0001t0001g0108 a0001c0001t0011g0143 a0001c0001t0023g0247 a0001c0001t0054g0087	4	252	0.0159	-12	c.356 others(31): Show c.356-59297_356-59286delTTTTTTTTTTTT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105729301	GAATAAAT others(5): Show GAATAAATAAATA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG03130.hp1 others(2): Show HG02630.hp2 HG02723.hp1 HG03130.hp1 HG03471.hp2 NA19043.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0004 a0001c0001t0016 a0001c0001t0028 others(2): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0028 a0002c0002t0030 a0007c0009t0007	a0001c0001t0004g0219 a0001c0001t0016g0069 a0001c0001t0028g0114 others(2): Show a0001c0001t0004g0219 a0001c0001t0016g0069 a0001c0001t0028g0114 a0002c0002t0030g0212 a0007c0009t0007g0096	5	252	0.0198	-12	c.355 others(31): Show c.355+59291_355+59302delTATTTATTTATT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105737528	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00741.hp2 others(72): Show HG00558.hp1 HG00558.hp2 HG00741.hp2 HG01069.hp1 HG01099.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG03209.hp2 HG03239.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18962.hp1 NA18970.hp1 NA18989.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0063 a0001c0008t0014 a0002c0002t0022	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0044 others(72): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0044 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0001t0001g0185 a0001c0001t0001g0214 a0001c0001t0002g0010 a0001c0001t0002g0053 a0001c0001t0002g0160 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0188 a0001c0001t0002g0231 a0001c0001t0002g0245 a0001c0001t0003g0043 a0001c0001t0003g0050 a0001c0001t0003g0090 a0001c0001t0003g0150 a0001c0001t0004g0211 a0001c0001t0004g0246 a0001c0001t0005g0025 a0001c0001t0005g0159 a0001c0001t0005g0248 a0001c0001t0006g0001 a0001c0001t0006g0022 a0001c0001t0006g0034 a0001c0001t0007g0057 a0001c0001t0008g0045 a0001c0001t0008g0089 a0001c0001t0008g0175 a0001c0001t0008g0216 a0001c0001t0008g0249 a0001c0001t0009g0013 a0001c0001t0009g0103 a0001c0001t0009g0141 a0001c0001t0010g0093 a0001c0001t0011g0012 a0001c0001t0011g0152 a0001c0001t0011g0170 a0001c0001t0012g0064 a0001c0001t0012g0115 a0001c0001t0013g0251 a0001c0001t0014g0166 a0001c0001t0015g0019 a0001c0001t0016g0061 a0001c0001t0016g0139 a0001c0001t0017g0113 a0001c0001t0017g0213 a0001c0001t0018g0058 a0001c0001t0018g0094 a0001c0001t0019g0062 a0001c0001t0019g0063 a0001c0001t0019g0178 a0001c0001t0020g0169 a0001c0001t0021g0130 a0001c0001t0022g0224 a0001c0001t0029g0215 a0001c0001t0031g0172 a0001c0001t0034g0068 a0001c0001t0035g0151 a0001c0001t0041g0196 a0001c0001t0042g0161 a0001c0001t0043g0105 a0001c0001t0045g0190 a0001c0001t0046g0138 a0001c0001t0049g0148 a0001c0001t0055g0252 a0001c0001t0057g0229 a0001c0001t0058g0018 a0001c0001t0063g0041 a0001c0008t0014g0165 a0002c0002t0022g0220	75	252	0.2976	-12	c.355 others(31): Show c.355+51064_355+51075delACACACACACAC		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105790606	TTATCTAT others(5): Show TTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp1 HG01516.hp1 others(15): Show HG00323.hp1 HG01099.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp2 HG02895.hp1 HG03041.hp1 HG03516.hp1 HG03579.hp2 HG03942.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0010 a0001c0001 a0002c0002 a0006c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0025 a0001c0001t0045 a0001c0001t0049 a0002c0002t0059 a0006c0010t0031	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(15): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0201 a0001c0001t0003g0070 a0001c0001t0004g0203 a0001c0001t0005g0182 a0001c0001t0007g0202 a0001c0001t0007g0223 a0001c0001t0010g0051 a0001c0001t0012g0064 a0001c0001t0014g0233 a0001c0001t0016g0061 a0001c0001t0025g0104 a0001c0001t0045g0190 a0001c0001t0049g0148 a0002c0002t0059g0200 a0006c0010t0031g0204	18	252	0.0714	-12	c.251 others(29): Show c.251-1910_251-1899delGATAGATAGATA		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105860136	TATATATA others(5): Show TATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG01358.hp2 others(3): Show HG00741.hp2 HG01261.hp2 HG01358.hp2 HG01943.hp1 HG01952.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0016 others(2): Show a0001c0001t0004 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0047	a0001c0001t0004g0127 a0001c0001t0012g0115 a0001c0001t0016g0061 others(3): Show a0001c0001t0004g0127 a0001c0001t0012g0115 a0001c0001t0016g0061 a0001c0001t0019g0062 a0001c0001t0019g0063 a0001c0001t0047g0121	6	252	0.0238	-12	c.250 others(31): Show c.250+15664_250+15675delGTATATATATAT		ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11						chr7	TogoVar
ATXN7L3B_chr12_74532835_74550430	74533872	AAAATAAA others(5): Show AAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0000 a0001c0001t0053g0000	1	408	0.0025	-12	c.-42 others(23): Show c.-4240_-4229delAAATAAATAAAT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					3962		chr12	TogoVar
ATXN7L3B_chr12_74532835_74550430	74536670	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG03195.hp2 HG01070.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0000 a0001c0002t0005g0000	2	408	0.0049	-12	c.-14 others(23): Show c.-1442_-1431delTTTTTTTTTTTT		ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding					1164		chr12	TogoVar
ATXN7L3_chr17_44186805_44204884	44190349	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02965.hp1 others(8): Show HG02451.hp1 HG02647.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0018 a0001c0001t0006g0010 a0001c0001t0006g0088 a0001c0001t0001g0018 a0001c0001t0006g0010 a0001c0001t0006g0088	11	380	0.0290	-12	c.39 others(23): Show c.3902_*3913delTTTTTTTTTTTT		ATXN7L3	ENSG00000087152.16	transcript	ENST00000587097.6	protein_coding					1455		chr17	TogoVar
ATXN7_chr3_63858867_64008462	63863797	CGCGGCGG others(5): Show CGCGGCGGCGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0045 a0002c0030t0045	a0002c0030t0045g0033 a0002c0030t0045g0033	1	300	0.0033	-12	c.-47 others(21): Show c.-471_-460delGCGGCGGCGGCG		ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding					69		chr3	TogoVar

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