Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATRX_chrX_77499880_77791216	77530633	C C	CAAACA CAAACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(121): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18906.hp2 NA18947.hp2 NA18948.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19007.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0005 a0001c0007 others(6): Show a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0002c0002 a0002c0004 a0003c0006 a0005c0009 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0005t0005 a0001c0007t0005 a0001c0010t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0013 a0002c0002t0015 a0002c0002t0016 a0002c0004t0001 a0002c0004t0003 a0003c0006t0001 a0005c0009t0010 a0006c0008t0003	a0001c0001t0001g0087 a0001c0001t0001g0195 a0001c0001t0001g0198 others(121): Show a0001c0001t0001g0087 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0002g0142 a0001c0001t0002g0158 a0001c0001t0002g0178 a0001c0001t0002g0184 a0001c0001t0002g0199 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0115 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0162 a0001c0001t0003g0196 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0004g0122 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0205 a0001c0001t0004g0218 a0001c0001t0005g0069 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0135 a0001c0001t0005g0213 a0001c0001t0006g0179 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0007g0070 a0001c0001t0017g0183 a0001c0001t0018g0193 a0001c0005t0005g0076 a0001c0005t0005g0081 a0001c0005t0005g0082 a0001c0007t0005g0079 a0001c0010t0006g0197 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0097 a0002c0002t0001g0109 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0204 a0002c0002t0001g0209 a0002c0002t0002g0007 a0002c0002t0002g0012 a0002c0002t0002g0020 a0002c0002t0002g0032 a0002c0002t0002g0037 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0057 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0110 a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0210 a0002c0002t0003g0019 a0002c0002t0003g0021 a0002c0002t0003g0025 a0002c0002t0003g0027 a0002c0002t0003g0177 a0002c0002t0006g0056 a0002c0002t0006g0207 a0002c0002t0013g0008 a0002c0002t0015g0043 a0002c0002t0016g0046 a0002c0004t0001g0009 a0002c0004t0001g0023 a0002c0004t0001g0031 a0002c0004t0001g0055 a0002c0004t0003g0030 a0003c0006t0001g0015 a0003c0006t0001g0159 a0005c0009t0010g0086 a0006c0008t0003g0203	124	218	0.5688	5	c.670 others(24): Show c.6700-7237_6700-7233dupTGTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77549955	A A	AAAATG AAAATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG04199.hp1 NA18970.hp1 others(3): Show HG02451.hp1 HG04199.hp1 NA18970.hp1 NA19030.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0002c0002t0001	a0001c0001t0002g0182 a0001c0001t0007g0066 a0001c0001t0008g0005 others(3): Show a0001c0001t0002g0182 a0001c0001t0007g0066 a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0018g0193 a0002c0002t0001g0204	6	218	0.0275	5	c.669 others(24): Show c.6699+7491_6699+7495dupCATTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	30/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01257.hp1 HG01928.hp1 others(4): Show HG00323.hp1 HG01257.hp1 HG01928.hp1 HG01975.hp1 HG02083.hp1 HG03490.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0003 a0002c0004t0001 others(1): Show a0002c0002t0001 a0002c0002t0003 a0002c0004t0001 a0002c0004t0003	a0002c0002t0001g0026 a0002c0002t0001g0062 a0002c0002t0001g0141 others(4): Show a0002c0002t0001g0026 a0002c0002t0001g0062 a0002c0002t0001g0141 a0002c0002t0001g0204 a0002c0002t0003g0027 a0002c0004t0001g0031 a0002c0004t0003g0030	7	218	0.0321	5	c.621 others(24): Show c.6217+4246_6217+4250dupTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77634232	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG04204.hp1 HG03209.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0218 a0001c0001t0007g0070 a0001c0001t0004g0218 a0001c0001t0007g0070	2	218	0.0092	5	c.480 others(22): Show c.4809+357_4809+361dupTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	17/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01516.hp2 HG02723.hp2 others(3): Show HG01074.hp1 HG01516.hp2 HG02723.hp2 HG04184.hp2 NA19001.hp1 NA19001.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0016	a0001c0001t0001g0087 a0001c0001t0001g0154 a0001c0001t0002g0184 others(3): Show a0001c0001t0001g0087 a0001c0001t0001g0154 a0001c0001t0002g0184 a0001c0001t0003g0163 a0002c0002t0001g0054 a0002c0002t0016g0046	6	218	0.0275	5	c.455 others(22): Show c.4557+892_4557+896dupTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77667295	A A	ATGTTG ATGTTG	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0214 a0001c0001t0006g0214	1	218	0.0046	5	c.381 others(24): Show c.3810-2518_3810-2517insCAACA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671147	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0078 a0001c0001t0021g0078	1	218	0.0046	5	c.380 others(24): Show c.3809+5074_3809+5078dupTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAAAT AAAAAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	218	0.0046	5	c.380 others(24): Show c.3809+5058_3809+5059insATTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAATAT AAATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01975.hp2 HG02015.hp1 others(8): Show HG00558.hp1 HG01975.hp2 HG02015.hp1 HG02165.hp1 HG02257.hp2 NA18965.hp1 NA18973.hp1 NA19001.hp2 NA19007.hp1 NA19080.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0142 a0001c0001t0002g0184 a0001c0001t0003g0196 others(8): Show a0001c0001t0002g0142 a0001c0001t0002g0184 a0001c0001t0003g0196 a0001c0001t0004g0122 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0205	11	218	0.0505	5	c.380 others(24): Show c.3809+5058_3809+5059insATATT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	ATATAT ATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03540.hp2 NA19074.hp1 HG03225.hp1 HG03540.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0017 a0001c0007t0005 a0001c0001t0001 a0001c0001t0017 a0001c0007t0005	a0001c0001t0001g0195 a0001c0001t0017g0183 a0001c0007t0005g0079 a0001c0001t0001g0195 a0001c0001t0017g0183 a0001c0007t0005g0079	3	218	0.0138	5	c.380 others(24): Show c.3809+5058_3809+5059insATATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77692892	T T	TGTGTG TGTGTG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	218	0.0046	5	c.484 others(20): Show c.484+931_484+932insCACAC	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	6/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77716110	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00738.hp1 others(16): Show HG00323.hp2 HG00558.hp2 HG00738.hp1 HG01258.hp1 HG01496.hp2 HG02129.hp1 NA18747.hp1 NA18944.hp1 NA18953.hp1 NA18966.hp1 NA18973.hp1 NA18985.hp1 NA18992.hp2 NA19004.hp1 NA19011.hp2 NA19012.hp1 NA19068.hp1 NA19080.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0003t0001	a0001c0001t0001g0116 a0001c0001t0001g0149 a0001c0001t0002g0071 others(16): Show a0001c0001t0001g0116 a0001c0001t0001g0149 a0001c0001t0002g0071 a0001c0001t0002g0089 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0145 a0001c0001t0002g0166 a0001c0001t0002g0189 a0001c0001t0004g0185 a0001c0001t0005g0135 a0001c0001t0006g0214 a0001c0001t0009g0002 a0001c0003t0001g0217	19	218	0.0872	5	c.133 others(22): Show c.133+1016_133+1020dupAAAAA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77716317	A A	ATATAT ATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	218	0.0046	5	c.133 others(20): Show c.133+813_133+814insATATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77716319	A A	ATATAT ATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03831.hp2 HG02738.hp1 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0028 a0002c0002t0002g0210 a0002c0002t0001g0028 a0002c0002t0002g0210	2	218	0.0092	5	c.133 others(20): Show c.133+811_133+812insATATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77716321	A A	ATATAT ATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp1 HG01257.hp1 others(6): Show HG00323.hp1 HG01099.hp1 HG01257.hp1 HG03195.hp1 NA18969.hp1 NA18977.hp1 NA18990.hp1 NA19003.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006	a0002c0002t0001g0022 a0002c0002t0001g0038 a0002c0002t0001g0050 others(6): Show a0002c0002t0001g0022 a0002c0002t0001g0038 a0002c0002t0001g0050 a0002c0002t0001g0059 a0002c0002t0001g0141 a0002c0002t0002g0020 a0002c0002t0002g0110 a0002c0002t0003g0027 a0002c0002t0006g0056	9	218	0.0413	5	c.133 others(20): Show c.133+809_133+810insATATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77716323	A A	AAATAT AAATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02258.hp1 HG02280.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0003 a0006c0008t0003 a0001c0001t0003 a0006c0008t0003	a0001c0001t0003g0202 a0006c0008t0003g0203 a0001c0001t0003g0202 a0006c0008t0003g0203	2	218	0.0092	5	c.133 others(20): Show c.133+807_133+808insATATT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77716323	A A	ATATAT ATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02257.hp1 HG02723.hp2 others(3): Show HG01192.hp1 HG02257.hp1 HG02723.hp2 NA18955.hp1 NA19001.hp1 NA19058.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0003c0006t0001	a0001c0001t0001g0087 a0001c0001t0003g0088 a0002c0002t0001g0054 others(3): Show a0001c0001t0001g0087 a0001c0001t0003g0088 a0002c0002t0001g0054 a0002c0002t0001g0063 a0002c0002t0002g0007 a0003c0006t0001g0015	6	218	0.0275	5	c.133 others(20): Show c.133+807_133+808insATATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77737435	A A	AGGGGG AGGGGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02257.hp2 HG02717.hp1 others(3): Show HG02015.hp1 HG02257.hp2 HG02717.hp1 HG02965.hp1 HG04184.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0010t0006	a0001c0001t0002g0178 a0001c0001t0003g0085 a0001c0001t0003g0163 others(3): Show a0001c0001t0002g0178 a0001c0001t0003g0085 a0001c0001t0003g0163 a0001c0001t0003g0196 a0001c0001t0004g0188 a0001c0010t0006g0197	6	218	0.0275	5	c.21- others(22): Show c.21-20197_21-20193dupCCCCC	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATR_chr3_142444235_142583733	142528877	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02896.hp1 NA18963.hp2 others(2): Show HG01943.hp2 HG02896.hp1 NA18963.hp2 NA18965.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0090 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0090 a0001c0001t0001g0110 a0001c0001t0001g0113	5	322	0.0155	5	c.394 others(24): Show c.3946-4679_3946-4678insAAAAA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142531234	G G	GTTTTA GTTTTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01109.hp1 others(7): Show HG00735.hp2 HG01106.hp1 HG01109.hp1 HG01361.hp2 HG02273.hp1 NA18971.hp1 NA18973.hp2 NA18986.hp1 NA19060.hp2 NA19070.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0242 a0002c0002t0001g0258 a0002c0002t0001g0278 others(7): Show a0002c0002t0001g0242 a0002c0002t0001g0258 a0002c0002t0001g0278 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0003c0003t0001g0168 a0003c0003t0001g0189 a0003c0003t0001g0190	10	322	0.0311	5	c.394 others(24): Show c.3945+3841_3945+3845dupTAAAA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45707650	G G	GATATA GATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG02970.hp1 others(3): Show HG02572.hp1 HG02818.hp1 HG02970.hp1 HG03540.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 others(3): Show a0001c0001t0001g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0009g0133	6	316	0.0190	5	c.647 others(22): Show c.647+4819_647+4823dupATATA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45721919	A A	AAAAAC AAAAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp2 NA18978.hp1 others(1): Show HG02055.hp2 HG02965.hp2 NA18978.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0002g0120 others(1): Show a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0002g0120 a0001c0001t0002g0212	4	316	0.0127	5	c.728 others(22): Show c.728+3448_728+3452dupAAACA	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795354	G G	GATTCT GATTCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00735.hp1 others(34): Show HG00544.hp1 HG00597.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01255.hp2 HG01433.hp1 HG01515.hp1 HG02145.hp1 HG02155.hp1 HG02572.hp1 HG02738.hp2 HG02886.hp2 HG03017.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 NA18906.hp1 NA18942.hp1 NA18944.hp1 NA18969.hp1 NA18983.hp1 NA18983.hp2 NA18993.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19057.hp2 NA19068.hp1 NA19074.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0034 others(34): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0299 a0001c0001t0001g0312 a0001c0001t0005g0292 a0001c0001t0009g0133 a0001c0001t0017g0246	37	316	0.1171	5	c.117 others(26): Show c.1174-11539_1174-11535dupATTCT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795415	A A	ATTGTT ATTGTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG03669.hp2 HG01070.hp1 HG01071.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0102	3	316	0.0095	5	c.117 others(26): Show c.1174-11542_1174-11541insGTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45819192	A A	AAATAG AAATAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG01943.hp2 others(33): Show HG00408.hp1 HG00642.hp1 HG01943.hp2 HG02056.hp2 HG02717.hp2 HG02738.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03471.hp2 HG03491.hp1 HG03831.hp2 HG03834.hp2 NA18949.hp2 NA18951.hp2 NA18956.hp2 NA18961.hp1 NA18969.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18985.hp2 NA18989.hp1 NA18993.hp1 NA18999.hp2 NA19002.hp1 NA19043.hp2 NA19056.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp2 NA19078.hp2 NA19083.hp1 NA19087.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(33): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0110 a0001c0001t0001g0169 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0212 a0001c0001t0003g0308 a0001c0001t0005g0293 a0001c0001t0008g0300	36	316	0.1139	5	c.123 others(26): Show c.1237+12226_1237+12230dupAATAG	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1L_chr16_71840976_71862328	71849215	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02895.hp1 HG02897.hp1 others(1): Show HG01515.hp1 HG02895.hp1 HG02897.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0040 a0001c0001t0010g0018 a0001c0001t0003g0040 a0001c0001t0010g0018	4	418	0.0096	5	c.-11 others(22): Show c.-117-409_-117-408insAAAAA	ATXN1L	ENSG00000224470.9	transcript	ENST00000427980.7	protein_coding	2/2			chr16	TogoVar
ATXN1_chr6_16294112_16766460	16300213	G G	GTCCTT GTCCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG01070.hp1 HG01257.hp1 others(9): Show HG00609.hp2 HG01070.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG02056.hp2 NA18612.hp2 NA18986.hp1 NA19007.hp2 NA19009.hp1 NA19062.hp1 NA19062.hp2	a0002 a0004 a0019 others(1): Show a0002 a0004 a0019 a0026	a0002c0002 a0002c0004 a0004c0005 others(2): Show a0002c0002 a0002c0004 a0004c0005 a0019c0026 a0026c0061	a0002c0002t0008 a0002c0002t0041 a0002c0002t0043 others(4): Show a0002c0002t0008 a0002c0002t0041 a0002c0002t0043 a0002c0004t0017 a0004c0005t0008 a0019c0026t0019 a0026c0061t0036	a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0116 others(9): Show a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0116 a0002c0002t0008g0138 a0002c0002t0008g0140 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0017g0121 a0002c0004t0017g0179 a0004c0005t0008g0068 a0019c0026t0019g0001 a0026c0061t0036g0095	12	182	0.0659	5	c.61 others(16): Show c.6111_*6115dupAAGGA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	8/8	6115		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16301085	C C	CTTTTT CTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG01074.hp2 HG01109.hp1 others(9): Show HG00140.hp1 HG01074.hp2 HG01109.hp1 HG01261.hp1 HG01496.hp2 HG02004.hp2 HG02698.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2	a0012 a0014 a0015 others(2): Show a0012 a0014 a0015 a0021 a0028	a0012c0011 a0014c0017 a0015c0030 others(3): Show a0012c0011 a0014c0017 a0015c0030 a0015c0055 a0021c0021 a0028c0053	a0012c0011t0004 a0012c0011t0023 a0014c0017t0004 others(5): Show a0012c0011t0004 a0012c0011t0023 a0014c0017t0004 a0014c0017t0025 a0015c0030t0004 a0015c0055t0004 a0021c0021t0004 a0028c0053t0004	a0012c0011t0004g0050 a0012c0011t0004g0086 a0012c0011t0004g0144 others(9): Show a0012c0011t0004g0050 a0012c0011t0004g0086 a0012c0011t0004g0144 a0012c0011t0004g0161 a0012c0011t0023g0023 a0014c0017t0004g0044 a0014c0017t0004g0171 a0014c0017t0025g0142 a0015c0030t0004g0032 a0015c0055t0004g0067 a0021c0021t0004g0069 a0028c0053t0004g0065	12	182	0.0659	5	c.52 others(16): Show c.5239_*5243dupAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	8/8	5243		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16350607	C C	CTCTTT CTCTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01884.hp2 others(19): Show HG01109.hp2 HG01243.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02615.hp1 HG02630.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG06807.hp2 NA18906.hp1 NA19240.hp1 NA20300.hp2	a0001 a0005 a0006 others(4): Show a0001 a0005 a0006 a0007 a0024 a0029 a0030	a0001c0052 a0005c0006 a0005c0060 others(6): Show a0001c0052 a0005c0006 a0005c0060 a0006c0046 a0007c0009 a0007c0059 a0024c0018 a0029c0057 a0030c0058	a0001c0052t0047 a0005c0006t0003 a0005c0006t0006 others(11): Show a0001c0052t0047 a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 a0005c0060t0006 a0006c0046t0001 a0007c0009t0002 a0007c0009t0035 a0007c0009t0049 a0007c0059t0012 a0024c0018t0001 a0024c0018t0012 a0029c0057t0001 a0030c0058t0018	a0001c0052t0047g0060 a0005c0006t0003g0006 a0005c0006t0003g0051 others(19): Show a0001c0052t0047g0060 a0005c0006t0003g0006 a0005c0006t0003g0051 a0005c0006t0003g0057 a0005c0006t0003g0070 a0005c0006t0003g0114 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0006t0009g0163 a0005c0060t0006g0132 a0006c0046t0001g0012 a0007c0009t0002g0028 a0007c0009t0002g0056 a0007c0009t0002g0126 a0007c0009t0002g0164 a0007c0009t0035g0018 a0007c0009t0049g0005 a0007c0059t0012g0030 a0024c0018t0001g0009 a0024c0018t0012g0148 a0029c0057t0001g0016 a0030c0058t0018g0054	22	182	0.1209	5	c.-16 others(26): Show c.-160-22138_-160-22137insAAAGA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16429377	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00597.hp1 others(21): Show HG00140.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG01255.hp1 HG01346.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02523.hp1 HG02602.hp2 HG02735.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp1 NA18944.hp2 NA18946.hp2 NA18952.hp2 NA18973.hp2 NA18986.hp1 NA18993.hp1 NA19007.hp1 NA19060.hp1 NA19062.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0008 a0009 a0011 a0012 a0013 a0016 a0019 a0020 a0023 a0026	a0001c0001 a0002c0002 a0002c0004 others(13): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0003c0050 a0004c0015 a0008c0024 a0009c0016 a0011c0007 a0012c0011 a0013c0013 a0016c0014 a0019c0026 a0020c0020 a0023c0035 a0026c0061	a0001c0001t0001 a0001c0001t0029 a0002c0002t0002 others(19): Show a0001c0001t0001 a0001c0001t0029 a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0002c0002t0016 a0002c0002t0043 a0002c0004t0001 a0003c0003t0001 a0003c0050t0045 a0004c0015t0001 a0008c0024t0001 a0009c0016t0007 a0011c0007t0003 a0012c0011t0004 a0013c0013t0005 a0016c0014t0007 a0016c0014t0027 a0019c0026t0001 a0020c0020t0026 a0023c0035t0001 a0026c0061t0036	a0001c0001t0001g0103 a0001c0001t0029g0145 a0002c0002t0002g0090 others(21): Show a0001c0001t0001g0103 a0001c0001t0029g0145 a0002c0002t0002g0090 a0002c0002t0008g0063 a0002c0002t0008g0116 a0002c0002t0009g0094 a0002c0002t0016g0111 a0002c0002t0043g0175 a0002c0004t0001g0080 a0002c0004t0001g0084 a0003c0003t0001g0039 a0003c0050t0045g0147 a0004c0015t0001g0157 a0008c0024t0001g0074 a0009c0016t0007g0151 a0011c0007t0003g0066 a0012c0011t0004g0050 a0013c0013t0005g0036 a0016c0014t0007g0155 a0016c0014t0027g0134 a0019c0026t0001g0098 a0020c0020t0026g0088 a0023c0035t0001g0064 a0026c0061t0036g0095	24	182	0.1319	5	c.-16 others(26): Show c.-161+56590_-161+56594dupTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16439390	T T	TTGGGG TTGGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp2 HG01361.hp1 others(9): Show HG00642.hp1 HG01255.hp2 HG01361.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02723.hp1 HG02809.hp2 HG03041.hp1 HG03098.hp2 HG03225.hp1 HG03453.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0018	a0001c0029 a0002c0002 a0002c0004 others(6): Show a0001c0029 a0002c0002 a0002c0004 a0003c0003 a0005c0006 a0006c0008 a0007c0009 a0009c0025 a0018c0054	a0001c0029t0039 a0002c0002t0003 a0002c0004t0001 others(9): Show a0001c0029t0039 a0002c0002t0003 a0002c0004t0001 a0003c0003t0001 a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 a0006c0008t0002 a0006c0008t0046 a0007c0009t0002 a0009c0025t0033 a0018c0054t0001	a0001c0029t0039g0041 a0002c0002t0003g0061 a0002c0004t0001g0182 others(9): Show a0001c0029t0039g0041 a0002c0002t0003g0061 a0002c0004t0001g0182 a0003c0003t0001g0039 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0006t0009g0163 a0006c0008t0002g0137 a0006c0008t0046g0062 a0007c0009t0002g0126 a0009c0025t0033g0165 a0018c0054t0001g0115	12	182	0.0659	5	c.-16 others(26): Show c.-161+46577_-161+46581dupCCCCA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16454125	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02723.hp1 HG02735.hp2 others(4): Show HG02135.hp2 HG02723.hp1 HG02735.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp2 NA19062.hp2	a0001 a0003 a0009 others(3): Show a0001 a0003 a0009 a0011 a0013 a0026	a0001c0001 a0003c0050 a0009c0025 others(3): Show a0001c0001 a0003c0050 a0009c0025 a0011c0007 a0013c0013 a0026c0061	a0001c0001t0029 a0003c0050t0045 a0009c0025t0033 others(4): Show a0001c0001t0029 a0003c0050t0045 a0009c0025t0033 a0011c0007t0002 a0011c0007t0003 a0013c0013t0005 a0026c0061t0036	a0001c0001t0029g0145 a0003c0050t0045g0147 a0009c0025t0033g0165 others(4): Show a0001c0001t0029g0145 a0003c0050t0045g0147 a0009c0025t0033g0165 a0011c0007t0002g0097 a0011c0007t0003g0066 a0013c0013t0005g0036 a0026c0061t0036g0095	7	182	0.0385	5	c.-16 others(26): Show c.-161+31842_-161+31846dupTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16540277	T T	TCTCGG TCTCGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG02451.hp2 others(10): Show HG00642.hp2 HG00735.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03516.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA20752.hp2	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0006 a0007 a0009 a0013 a0031	a0001c0001 a0001c0028 a0002c0002 others(7): Show a0001c0001 a0001c0028 a0002c0002 a0005c0006 a0005c0060 a0006c0008 a0007c0009 a0009c0016 a0013c0038 a0031c0048	a0001c0001t0002 a0001c0001t0011 a0001c0028t0015 others(8): Show a0001c0001t0002 a0001c0001t0011 a0001c0028t0015 a0002c0002t0010 a0005c0006t0003 a0005c0060t0006 a0006c0008t0010 a0007c0009t0002 a0009c0016t0001 a0013c0038t0034 a0031c0048t0042	a0001c0001t0002g0076 a0001c0001t0011g0131 a0001c0028t0015g0125 others(10): Show a0001c0001t0002g0076 a0001c0001t0011g0131 a0001c0028t0015g0125 a0002c0002t0010g0015 a0005c0006t0003g0006 a0005c0060t0006g0132 a0006c0008t0010g0038 a0007c0009t0002g0028 a0007c0009t0002g0056 a0007c0009t0002g0126 a0009c0016t0001g0034 a0013c0038t0034g0139 a0031c0048t0042g0026	13	182	0.0714	5	c.-36 others(26): Show c.-360-17594_-360-17590dupCCGAG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16579480	G G	GCCCCC GCCCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00609.hp2 others(22): Show HG00423.hp1 HG00423.hp2 HG00609.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01978.hp2 HG02056.hp1 HG02735.hp2 HG03492.hp1 HG03834.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp2 NA18986.hp1 NA19007.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA20300.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0008 a0012 a0013 a0014 a0015 a0017 a0023 a0026	a0001c0001 a0001c0027 a0002c0002 others(12): Show a0001c0001 a0001c0027 a0002c0002 a0002c0004 a0003c0003 a0003c0050 a0004c0005 a0008c0012 a0012c0011 a0013c0013 a0014c0017 a0015c0055 a0017c0022 a0023c0034 a0026c0061	a0001c0001t0001 a0001c0001t0029 a0001c0001t0030 others(19): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0030 a0001c0027t0001 a0002c0002t0001 a0002c0002t0008 a0002c0002t0041 a0002c0002t0043 a0002c0004t0017 a0003c0003t0002 a0003c0050t0045 a0004c0005t0002 a0004c0005t0008 a0008c0012t0005 a0012c0011t0004 a0013c0013t0005 a0013c0013t0016 a0014c0017t0025 a0015c0055t0004 a0017c0022t0001 a0023c0034t0002 a0026c0061t0036	a0001c0001t0001g0105 a0001c0001t0001g0178 a0001c0001t0029g0145 others(22): Show a0001c0001t0001g0105 a0001c0001t0001g0178 a0001c0001t0029g0145 a0001c0001t0030g0021 a0001c0027t0001g0107 a0002c0002t0001g0071 a0002c0002t0008g0063 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0017g0121 a0002c0004t0017g0179 a0003c0003t0002g0120 a0003c0050t0045g0147 a0004c0005t0002g0167 a0004c0005t0008g0068 a0008c0012t0005g0078 a0008c0012t0005g0168 a0012c0011t0004g0144 a0013c0013t0005g0036 a0013c0013t0016g0153 a0014c0017t0025g0142 a0015c0055t0004g0067 a0017c0022t0001g0146 a0023c0034t0002g0124 a0026c0061t0036g0095	25	182	0.1374	5	c.-36 others(24): Show c.-361+6295_-361+6299dupGGGGG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16640828	G G	GCTGAC GCTGAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18522.hp1 HG01261.hp2 NA18522.hp1	a0002 a0018 a0002 a0018	a0002c0002 a0018c0056 a0002c0002 a0018c0056	a0002c0002t0001 a0018c0056t0007 a0002c0002t0001 a0018c0056t0007	a0002c0002t0001g0071 a0018c0056t0007g0011 a0002c0002t0001g0071 a0018c0056t0007g0011	2	182	0.0110	5	c.-48 others(26): Show c.-489+16947_-489+16948insGTCAG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16753898	T T	TTTAAA TTTAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(134): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0022 a0023 a0026 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0038	a0001c0001 a0001c0027 a0001c0028 others(47): Show a0001c0001 a0001c0027 a0001c0028 a0001c0029 a0001c0052 a0002c0002 a0002c0004 a0003c0003 a0003c0050 a0003c0051 a0004c0005 a0004c0015 a0004c0023 a0004c0031 a0004c0041 a0005c0006 a0005c0060 a0006c0008 a0006c0043 a0007c0009 a0007c0059 a0008c0012 a0008c0024 a0009c0016 a0009c0025 a0010c0010 a0011c0007 a0012c0011 a0013c0013 a0013c0038 a0014c0017 a0015c0030 a0016c0014 a0017c0022 a0018c0054 a0018c0056 a0020c0020 a0021c0021 a0022c0019 a0023c0034 a0026c0061 a0029c0057 a0030c0058 a0031c0048 a0032c0045 a0033c0044 a0034c0047 a0035c0036 a0036c0037 a0038c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(79): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0029 a0001c0001t0030 a0001c0001t0044 a0001c0027t0001 a0001c0028t0015 a0001c0029t0039 a0001c0029t0048 a0001c0052t0047 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0016 a0002c0002t0041 a0002c0002t0043 a0002c0004t0001 a0002c0004t0017 a0003c0003t0001 a0003c0003t0002 a0003c0003t0013 a0003c0003t0022 a0003c0050t0045 a0003c0051t0010 a0004c0005t0002 a0004c0015t0001 a0004c0023t0002 a0004c0023t0009 a0004c0031t0002 a0004c0041t0001 a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 a0005c0060t0006 a0006c0008t0002 a0006c0008t0010 a0006c0008t0040 a0006c0043t0010 a0007c0009t0002 a0007c0009t0035 a0007c0009t0049 a0007c0059t0012 a0008c0012t0005 a0008c0024t0001 a0009c0016t0001 a0009c0016t0028 a0009c0025t0031 a0009c0025t0033 a0010c0010t0006 a0011c0007t0002 a0012c0011t0004 a0012c0011t0023 a0013c0013t0005 a0013c0038t0034 a0014c0017t0004 a0014c0017t0025 a0015c0030t0004 a0016c0014t0007 a0016c0014t0012 a0016c0014t0027 a0017c0022t0001 a0018c0054t0001 a0018c0056t0007 a0020c0020t0026 a0020c0020t0032 a0021c0021t0014 a0022c0019t0001 a0023c0034t0002 a0026c0061t0036 a0029c0057t0001 a0030c0058t0018 a0031c0048t0042 a0032c0045t0018 a0033c0044t0024 a0034c0047t0002 a0035c0036t0007 a0036c0037t0001 a0038c0033t0002	a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 others(134): Show a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0129 a0001c0001t0011g0131 a0001c0001t0029g0145 a0001c0001t0030g0021 a0001c0001t0044g0118 a0001c0027t0001g0024 a0001c0028t0015g0017 a0001c0028t0015g0125 a0001c0029t0039g0041 a0001c0029t0048g0031 a0001c0052t0047g0060 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0003g0007 a0002c0002t0003g0061 a0002c0002t0003g0133 a0002c0002t0007g0136 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0116 a0002c0002t0008g0138 a0002c0002t0008g0140 a0002c0002t0009g0094 a0002c0002t0010g0015 a0002c0002t0016g0111 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0001g0046 a0002c0004t0001g0073 a0002c0004t0001g0080 a0002c0004t0001g0084 a0002c0004t0001g0093 a0002c0004t0001g0174 a0002c0004t0001g0182 a0002c0004t0017g0121 a0002c0004t0017g0179 a0003c0003t0001g0042 a0003c0003t0001g0049 a0003c0003t0002g0120 a0003c0003t0013g0027 a0003c0003t0013g0033 a0003c0003t0022g0119 a0003c0050t0045g0147 a0003c0051t0010g0173 a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 a0004c0005t0002g0122 a0004c0005t0002g0160 a0004c0005t0002g0167 a0004c0005t0002g0177 a0004c0015t0001g0157 a0004c0015t0001g0176 a0004c0023t0002g0035 a0004c0023t0009g0110 a0004c0031t0002g0101 a0004c0041t0001g0156 a0005c0006t0003g0051 a0005c0006t0003g0057 a0005c0006t0003g0070 a0005c0006t0003g0114 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0006t0009g0163 a0005c0060t0006g0132 a0006c0008t0002g0137 a0006c0008t0010g0038 a0006c0008t0040g0154 a0006c0043t0010g0128 a0007c0009t0002g0126 a0007c0009t0002g0164 a0007c0009t0035g0018 a0007c0009t0049g0005 a0007c0059t0012g0030 a0008c0012t0005g0078 a0008c0012t0005g0091 a0008c0012t0005g0092 a0008c0024t0001g0074 a0008c0024t0001g0143 a0009c0016t0001g0034 a0009c0016t0028g0141 a0009c0025t0031g0058 a0009c0025t0033g0165 a0010c0010t0006g0008 a0010c0010t0006g0014 a0010c0010t0006g0052 a0010c0010t0006g0112 a0010c0010t0006g0113 a0011c0007t0002g0040 a0011c0007t0002g0097 a0011c0007t0002g0172 a0012c0011t0004g0050 a0012c0011t0004g0086 a0012c0011t0004g0144 a0012c0011t0023g0023 a0013c0013t0005g0036 a0013c0013t0005g0100 a0013c0038t0034g0139 a0014c0017t0004g0044 a0014c0017t0004g0171 a0014c0017t0025g0142 a0015c0030t0004g0032 a0016c0014t0007g0155 a0016c0014t0012g0135 a0016c0014t0027g0134 a0017c0022t0001g0104 a0017c0022t0001g0146 a0018c0054t0001g0115 a0018c0056t0007g0011 a0020c0020t0026g0088 a0020c0020t0032g0099 a0021c0021t0014g0082 a0022c0019t0001g0025 a0022c0019t0001g0127 a0023c0034t0002g0124 a0026c0061t0036g0095 a0029c0057t0001g0016 a0030c0058t0018g0054 a0031c0048t0042g0026 a0032c0045t0018g0059 a0033c0044t0024g0048 a0034c0047t0002g0029 a0035c0036t0007g0019 a0036c0037t0001g0117 a0038c0033t0002g0004	137	182	0.7528	5	c.-72 others(22): Show c.-729-552_-729-551insTTTAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	1/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16759530	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG02486.hp1 others(5): Show HG00408.hp2 HG00597.hp2 HG02486.hp1 HG03225.hp2 HG04115.hp1 NA18993.hp2 NA19240.hp1 NA20752.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0008 a0010	a0001c0001 a0002c0004 a0004c0005 others(3): Show a0001c0001 a0002c0004 a0004c0005 a0005c0006 a0008c0024 a0010c0010	a0001c0001t0002 a0002c0004t0001 a0004c0005t0002 others(3): Show a0001c0001t0002 a0002c0004t0001 a0004c0005t0002 a0005c0006t0003 a0008c0024t0001 a0010c0010t0006	a0001c0001t0002g0076 a0001c0001t0002g0077 a0002c0004t0001g0073 others(5): Show a0001c0001t0002g0076 a0001c0001t0002g0077 a0002c0004t0001g0073 a0004c0005t0002g0075 a0004c0005t0002g0122 a0005c0006t0003g0051 a0008c0024t0001g0074 a0010c0010t0006g0052	8	182	0.0440	5	c.-73 others(24): Show c.-730+1763_-730+1767dupAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	1/7			chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28831263	G G	GGTTGT GGTTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00642.hp2 others(68): Show HG00099.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02080.hp1 HG02257.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp2 NA18975.hp2 NA18979.hp2 NA19011.hp2 NA19055.hp2 NA19057.hp1 NA19067.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0013 a0001c0021 others(1): Show a0001c0001 a0001c0013 a0001c0021 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0013t0001 a0001c0021t0001 a0003c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0003g0004 a0001c0001t0006g0004 a0001c0001t0013g0003 a0001c0001t0015g0003 a0001c0013t0001g0004 a0001c0021t0001g0004 a0003c0009t0001g0003	71	382	0.1859	5	c.132 others(22): Show c.1321+194_1321+198dupTGTGT	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATXN2_chr12_111447214_111604315	111461472	A A	AAAAAT AAAAAT	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	5	c.289 others(24): Show c.2896+3185_2896+3189dupATTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111468696	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01243.hp1 HG02071.hp2 others(7): Show HG00099.hp1 HG01243.hp1 HG02071.hp2 HG02109.hp1 HG02257.hp2 HG02717.hp2 HG02809.hp1 HG03669.hp1 HG04115.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0026 a0003c0005 a0001c0003 a0001c0026 a0003c0005	a0001c0003t0001 a0001c0003t0003 a0001c0026t0001 others(1): Show a0001c0003t0001 a0001c0003t0003 a0001c0026t0001 a0003c0005t0001	a0001c0003t0001g0150 a0001c0003t0001g0179 a0001c0003t0001g0191 others(7): Show a0001c0003t0001g0150 a0001c0003t0001g0179 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0003g0140 a0001c0026t0001g0160 a0003c0005t0001g0203	10	298	0.0336	5	c.284 others(24): Show c.2842+1407_2842+1411dupAAAAA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	20/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111483410	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02280.hp1 others(13): Show HG01884.hp1 HG02055.hp1 HG02280.hp1 HG02486.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp2 NA21309.hp1	a0003 a0007 a0018 a0003 a0007 a0018	a0003c0004 a0003c0007 a0007c0015 others(1): Show a0003c0004 a0003c0007 a0007c0015 a0018c0028	a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 others(4): Show a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 a0003c0007t0003 a0003c0007t0005 a0007c0015t0005 a0018c0028t0005	a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 others(13): Show a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0092 a0003c0004t0003g0098 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0005g0086 a0003c0004t0005g0087 a0003c0004t0005g0091 a0003c0004t0008g0215 a0003c0007t0003g0117 a0003c0007t0005g0116 a0007c0015t0005g0004 a0018c0028t0005g0208	16	298	0.0537	5	c.252 others(24): Show c.2524+1850_2524+1854dupTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	18/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553601	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG01256.hp1 others(41): Show HG00544.hp2 HG00597.hp1 HG01256.hp1 HG01258.hp1 HG01952.hp1 HG01975.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 NA18612.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp1 NA18994.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0016 a0002c0002 a0002c0016	a0002c0002t0001 a0002c0002t0003 a0002c0016t0001 a0002c0002t0001 a0002c0002t0003 a0002c0016t0001	a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0011 others(41): Show a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0064 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0001g0078 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0003g0034 a0002c0016t0001g0057	44	298	0.1477	5	c.348 others(20): Show c.348+556_348+557insAAAAA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553603	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01361.hp2 HG02027.hp2 others(20): Show HG00642.hp2 HG01361.hp2 HG02027.hp2 HG02040.hp2 HG02135.hp2 HG02258.hp1 HG02523.hp1 HG02970.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03927.hp2 NA18942.hp1 NA18968.hp2 NA18971.hp2 NA18982.hp1 NA18992.hp1 NA19043.hp1 NA19066.hp2 NA19083.hp2 NA19091.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0001c0008 a0003c0005 others(3): Show a0001c0003 a0001c0008 a0003c0005 a0003c0006 a0003c0011 a0004c0013	a0001c0003t0001 a0001c0003t0003 a0001c0008t0007 others(4): Show a0001c0003t0001 a0001c0003t0003 a0001c0008t0007 a0003c0005t0001 a0003c0006t0001 a0003c0011t0001 a0004c0013t0001	a0001c0003t0001g0125 a0001c0003t0001g0130 a0001c0003t0001g0135 others(20): Show a0001c0003t0001g0125 a0001c0003t0001g0130 a0001c0003t0001g0135 a0001c0003t0001g0138 a0001c0003t0001g0141 a0001c0003t0001g0144 a0001c0003t0001g0149 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0165 a0001c0003t0001g0168 a0001c0003t0001g0171 a0001c0003t0001g0180 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0003g0140 a0001c0003t0003g0152 a0001c0003t0003g0154 a0001c0008t0007g0146 a0003c0005t0001g0200 a0003c0006t0001g0211 a0003c0011t0001g0122 a0004c0013t0001g0199	23	298	0.0772	5	c.348 others(20): Show c.348+554_348+555insAAAAA	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111576085	A A	AATAAC AATAAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02027.hp2 HG02074.hp2 others(12): Show HG00408.hp2 HG02027.hp2 HG02074.hp2 HG02155.hp2 HG02738.hp1 HG02970.hp2 HG03130.hp1 HG03654.hp2 HG03927.hp2 NA18906.hp1 NA18968.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA19043.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0005 a0003c0006 others(1): Show a0001c0003 a0003c0005 a0003c0006 a0004c0013	a0001c0003t0001 a0001c0003t0003 a0003c0005t0001 others(2): Show a0001c0003t0001 a0001c0003t0003 a0003c0005t0001 a0003c0006t0001 a0004c0013t0001	a0001c0003t0001g0124 a0001c0003t0001g0139 a0001c0003t0001g0141 others(12): Show a0001c0003t0001g0124 a0001c0003t0001g0139 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0149 a0001c0003t0001g0157 a0001c0003t0001g0169 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0195 a0001c0003t0003g0154 a0003c0005t0001g0206 a0003c0006t0001g0211 a0003c0006t0001g0214 a0004c0013t0001g0198	15	298	0.0503	5	c.252 others(24): Show c.252-20171_252-20167dupGTTAT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111576140	C C	CACCAA CACCAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01167.hp2 HG01169.hp1 others(19): Show HG00544.hp1 HG01167.hp2 HG01169.hp1 HG01496.hp1 HG01496.hp2 HG01952.hp2 HG02145.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02622.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03540.hp2 NA18942.hp2 NA18955.hp1 NA18986.hp2 NA19011.hp2 NA19030.hp1 NA19067.hp2 NA19083.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0005c0009 a0011c0019	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0003t0003 a0002c0002t0001 a0005c0009t0001 a0011c0019t0002	a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0233 others(19): Show a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0251 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0298 a0001c0001t0004g0294 a0001c0001t0006g0265 a0001c0001t0006g0279 a0001c0003t0003g0172 a0001c0003t0003g0174 a0001c0003t0003g0175 a0002c0002t0001g0005 a0002c0002t0001g0076 a0002c0002t0001g0081 a0005c0009t0001g0001 a0005c0009t0001g0002 a0011c0019t0002g0255	22	298	0.0738	5	c.252 others(24): Show c.252-20226_252-20222dupTTGGT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01167.hp2 HG01169.hp1 others(13): Show HG00544.hp1 HG01167.hp2 HG01169.hp1 HG01433.hp2 HG01496.hp2 HG02080.hp1 HG02683.hp2 HG02738.hp2 HG02896.hp2 HG03195.hp2 HG03710.hp2 NA18959.hp2 NA18979.hp1 NA18994.hp1 NA19067.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0003t0003 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0003t0003 a0002c0002t0001	a0001c0001t0002g0233 a0001c0001t0002g0248 a0001c0001t0002g0258 others(13): Show a0001c0001t0002g0233 a0001c0001t0002g0248 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0290 a0001c0001t0006g0274 a0001c0003t0003g0174 a0002c0002t0001g0019	16	298	0.0537	5	c.251 others(22): Show c.251+9788_251+9792dupTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105600451	C C	CAGAGA CAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG00741.hp1 others(3): Show HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01168.hp1 HG01358.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0047	a0001c0001t0001g0059 a0001c0001t0001g0119 a0001c0001t0006g0022 others(3): Show a0001c0001t0001g0059 a0001c0001t0001g0119 a0001c0001t0006g0022 a0001c0001t0006g0168 a0001c0001t0010g0111 a0001c0001t0047g0121	6	252	0.0238	5	c.74 others(16): Show c.7400_*7401insTCTCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding		4320		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105605042	C C	CTTTTT CTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp2 HG00735.hp1 HG00735.hp2 others(35): Show HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01358.hp2 HG01884.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02280.hp1 HG02602.hp1 HG02622.hp1 HG02723.hp1 HG03130.hp1 HG03239.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03942.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19000.hp1 NA19003.hp1 NA19066.hp1 NA19086.hp1 NA19087.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 others(7): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0035 a0001c0001t0037 a0001c0001t0047 a0001c0001t0049 a0001c0001t0055 a0001c0004t0010	a0001c0001t0004g0023 a0001c0001t0004g0039 a0001c0001t0004g0084 others(35): Show a0001c0001t0004g0023 a0001c0001t0004g0039 a0001c0001t0004g0084 a0001c0001t0004g0124 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0198 a0001c0001t0004g0203 a0001c0001t0004g0211 a0001c0001t0004g0219 a0001c0001t0004g0246 a0001c0001t0010g0032 a0001c0001t0010g0051 a0001c0001t0010g0091 a0001c0001t0010g0093 a0001c0001t0010g0095 a0001c0001t0010g0111 a0001c0001t0010g0228 a0001c0001t0012g0028 a0001c0001t0012g0052 a0001c0001t0012g0064 a0001c0001t0012g0115 a0001c0001t0012g0122 a0001c0001t0012g0232 a0001c0001t0012g0244 a0001c0001t0016g0061 a0001c0001t0016g0069 a0001c0001t0016g0136 a0001c0001t0016g0139 a0001c0001t0016g0176 a0001c0001t0035g0151 a0001c0001t0037g0065 a0001c0001t0047g0121 a0001c0001t0049g0148 a0001c0001t0055g0252 a0001c0004t0010g0154	38	252	0.1508	5	c.28 others(16): Show c.2805_*2809dupAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	12/12	2809		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105605043	T T	TTTTTC TTTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG01433.hp1 HG01433.hp2 others(31): Show HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01981.hp1 HG02027.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG03239.hp2 HG04199.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18954.hp2 NA18962.hp1 NA18989.hp2 NA18994.hp2 NA18995.hp1 NA19005.hp2 NA19054.hp1 NA19056.hp1 NA19066.hp2 NA19074.hp1 NA19079.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0023 a0001c0001t0043	a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0016 others(31): Show a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0231 a0001c0001t0002g0239 a0001c0001t0002g0245 a0001c0001t0009g0013 a0001c0001t0009g0020 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0097 a0001c0001t0009g0103 a0001c0001t0009g0141 a0001c0001t0009g0146 a0001c0001t0023g0183 a0001c0001t0023g0247 a0001c0001t0043g0105	34	252	0.1349	5	c.28 others(16): Show c.2808_*2809insGAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	12/12	2808		chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619140	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02015.hp1 HG02155.hp1 others(13): Show HG01515.hp2 HG02015.hp1 HG02155.hp1 HG02451.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG03139.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 NA18522.hp1 NA18906.hp1 NA19003.hp2 NA19030.hp1 NA19043.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0027 a0001c0001t0029 a0007c0009t0007	a0001c0001t0001g0181 a0001c0001t0001g0201 a0001c0001t0004g0127 others(13): Show a0001c0001t0001g0181 a0001c0001t0001g0201 a0001c0001t0004g0127 a0001c0001t0004g0137 a0001c0001t0004g0211 a0001c0001t0005g0014 a0001c0001t0005g0126 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0010g0228 a0001c0001t0011g0157 a0001c0001t0015g0140 a0001c0001t0016g0139 a0001c0001t0027g0008 a0001c0001t0029g0215 a0007c0009t0007g0096	16	252	0.0635	5	c.151 others(24): Show c.1517+1055_1517+1059dupAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar

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