Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(7): Show CTATAAATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG01109.hp1 others(35): Show HG00597.hp2 HG01081.hp1 HG01109.hp1 HG01261.hp1 HG01358.hp1 HG01952.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02257.hp1 HG02273.hp2 HG02683.hp2 HG02723.hp2 HG03017.hp1 HG03492.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18947.hp2 NA18955.hp1 NA18959.hp1 NA18967.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA19000.hp1 NA19001.hp1 NA19058.hp1 NA19060.hp1 NA19070.hp1 NA19074.hp2 NA19091.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0012 a0003c0006t0001	a0001c0001t0001g0084 a0001c0001t0003g0085 a0001c0001t0010g0087 others(35): Show a0001c0001t0001g0084 a0001c0001t0003g0085 a0001c0001t0010g0087 a0002c0002t0001g0009 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0147 a0002c0002t0001g0208 a0002c0002t0002g0006 a0002c0002t0002g0023 a0002c0002t0002g0037 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0058 a0002c0002t0002g0063 a0002c0002t0002g0205 a0002c0002t0002g0207 a0002c0002t0003g0025 a0002c0002t0003g0176 a0002c0002t0006g0057 a0002c0002t0012g0038 a0003c0006t0001g0158	38	122	0.3115	14	c.-49 others(25): Show c.-4990_-4989insTATATATATTTATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4775		chrX	TogoVar
ATR_chr3_142444235_142583733	142454437	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0021 a0001c0006t0001g0021	1	181	0.0055	14	c.765 others(33): Show c.7656-1218_7656-1205dupAAAAAAAAAAAAAA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	45/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142472085	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02055.hp1 NA20300.hp1 HG00738.hp2 HG02055.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0116 a0001c0008t0001g0198 a0001c0008t0001g0200 a0001c0001t0001g0116 a0001c0008t0001g0198 a0001c0008t0001g0200	3	94	0.0319	14	c.622 others(33): Show c.6222-1916_6222-1903dupCACACACACACACA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	36/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CATTATAT others(7): Show CATTATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0023 a0001c0006t0001g0023	1	22	0.0455	14	c.589 others(29): Show c.5898+82_5898+83insTATATATATATAAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0264 a0002c0007t0001g0264	1	22	0.0455	14	c.589 others(29): Show c.5898+69_5898+82dupTATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142516984	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02647.hp2 others(7): Show HG02055.hp1 HG02109.hp1 HG02647.hp2 HG02886.hp2 HG02922.hp1 HG03098.hp1 HG03486.hp2 HG03688.hp2 NA18906.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0001c0008 a0004c0009 a0001c0004 a0001c0008 a0004c0009	a0001c0004t0001 a0001c0008t0001 a0004c0009t0001 a0001c0004t0001 a0001c0008t0001 a0004c0009t0001	a0001c0004t0001g0145 a0001c0004t0001g0151 a0001c0004t0001g0201 others(7): Show a0001c0004t0001g0145 a0001c0004t0001g0151 a0001c0004t0001g0201 a0001c0008t0001g0195 a0001c0008t0001g0197 a0001c0008t0001g0198 a0001c0008t0001g0199 a0001c0008t0001g0200 a0004c0009t0001g0149 a0004c0009t0001g0150	10	161	0.0621	14	c.438 others(33): Show c.4383-1483_4383-1470dupATATATATATATAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	24/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528854	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG03209.hp2 others(4): Show HG01081.hp1 HG01884.hp1 HG03209.hp2 NA18747.hp1 NA18967.hp2 NA19007.hp2 NA19054.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0003 a0001c0006 a0003c0003	a0001c0006t0001 a0003c0003t0001 a0001c0006t0001 a0003c0003t0001	a0001c0006t0001g0009 a0001c0006t0001g0016 a0003c0003t0001g0166 others(4): Show a0001c0006t0001g0009 a0001c0006t0001g0016 a0003c0003t0001g0166 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0191	7	305	0.0230	14	c.394 others(33): Show c.3946-4669_3946-4656dupATATATATATATAT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18947.hp1 HG02683.hp2 NA18947.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0167 a0003c0003t0001g0176 a0003c0003t0001g0167 a0003c0003t0001g0176	2	100	0.0200	14	c.394 others(33): Show c.3946-4681_3946-4680insAATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0199 a0001c0008t0001g0199	1	99	0.0101	14	c.394 others(33): Show c.3946-4681_3946-4680insAAAATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(7): Show ATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0160 a0001c0004t0001g0160	1	99	0.0101	14	c.394 others(33): Show c.3946-4681_3946-4680insAAAAAAAATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATTTTT others(7): Show ATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0161 a0003c0003t0001g0161	1	99	0.0101	14	c.394 others(33): Show c.3946-4681_3946-4680insAAAAAAAAAAAATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46			chr3	TogoVar
ATR_chr3_142444235_142583733	142544452	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG01167.hp1 others(9): Show HG00673.hp1 HG01074.hp1 HG01167.hp1 HG01346.hp2 HG02027.hp2 HG02071.hp2 NA18971.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19087.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0089 others(9): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112	12	123	0.0976	14	c.335 others(33): Show c.3358-1709_3358-1696dupTTTTTTTTTTTTTT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45795424	T T	TATTCTAT others(7): Show TATTCTATTCTATTC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	314	0.0032	14	c.117 others(35): Show c.1174-11535_1174-11534insATTCTATTCTATTC	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11			chr22	TogoVar
ATXN1_chr6_16294112_16766460	16296660	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0004 a0003c0015t0004	a0003c0015t0004g0171 a0003c0015t0004g0171	1	68	0.0147	14	c.96 others(25): Show c.9668_*9669insAAAAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding		2451		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16308322	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0072 a0004c0005t0002g0072	1	26	0.0385	14	c.191 others(33): Show c.1918-1477_1918-1464dupTGTGTGTGTGTGTG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16316865	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00609.hp1 others(5): Show HG00140.hp2 HG00423.hp1 HG00609.hp1 HG01070.hp1 HG02155.hp1 HG02615.hp1 NA18952.hp2 NA20300.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0004 a0004c0005 a0005c0007 a0002c0004 a0004c0005 a0005c0007	a0002c0004t0003 a0004c0005t0026 a0005c0007t0001 others(3): Show a0002c0004t0003 a0004c0005t0026 a0005c0007t0001 a0005c0007t0005 a0005c0007t0016 a0005c0007t0019	a0002c0004t0003g0006 a0002c0004t0003g0070 a0004c0005t0026g0088 others(5): Show a0002c0004t0003g0006 a0002c0004t0003g0070 a0004c0005t0026g0088 a0005c0007t0001g0098 a0005c0007t0005g0036 a0005c0007t0005g0091 a0005c0007t0016g0153 a0005c0007t0019g0001	8	48	0.1667	14	c.191 others(33): Show c.1917+9515_1917+9528dupAAAAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16395270	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0014 a0001c0010t0014	a0001c0010t0014g0082 a0001c0010t0014g0082	1	142	0.0070	14	c.-16 others(35): Show c.-160-66814_-160-66801dupTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16484991	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01257.hp2 others(5): Show HG00408.hp2 HG00423.hp2 HG01257.hp2 HG01258.hp1 HG02135.hp2 NA19030.hp2 NA19062.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0041 a0002c0003 others(3): Show a0001c0001 a0001c0041 a0002c0003 a0003c0009 a0003c0022 a0004c0006	a0001c0001t0001 a0001c0001t0011 a0001c0041t0036 others(5): Show a0001c0001t0001 a0001c0001t0011 a0001c0041t0036 a0002c0003t0002 a0003c0009t0001 a0003c0009t0017 a0003c0022t0001 a0004c0006t0003	a0001c0001t0001g0105 a0001c0001t0011g0131 a0001c0041t0036g0095 others(5): Show a0001c0001t0001g0105 a0001c0001t0011g0131 a0001c0041t0036g0095 a0002c0003t0002g0120 a0003c0009t0001g0073 a0003c0009t0017g0121 a0003c0022t0001g0146 a0004c0006t0003g0066	8	50	0.1600	14	c.-16 others(31): Show c.-161+980_-161+981insTACACACACACACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(7): Show TATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0019 a0005c0007t0019	a0005c0007t0019g0001 a0005c0007t0019g0001	1	109	0.0092	14	c.-36 others(33): Show c.-360-3377_-360-3376insGTGTGTATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01168.hp2 HG01169.hp2 others(6): Show HG00140.hp1 HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01346.hp2 HG02698.hp2 HG03139.hp2 HG04199.hp1 HG04199.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0001c0010 a0001c0034 others(4): Show a0001c0008 a0001c0010 a0001c0034 a0002c0011 a0003c0002 a0003c0009 a0003c0021	a0001c0008t0012 a0001c0010t0004 a0001c0010t0014 others(6): Show a0001c0008t0012 a0001c0010t0004 a0001c0010t0014 a0001c0010t0023 a0001c0034t0004 a0002c0011t0027 a0003c0002t0008 a0003c0009t0017 a0003c0021t0014	a0001c0008t0012g0148 a0001c0010t0004g0086 a0001c0010t0014g0082 others(6): Show a0001c0008t0012g0148 a0001c0010t0004g0086 a0001c0010t0014g0082 a0001c0010t0023g0023 a0001c0034t0004g0065 a0002c0011t0027g0134 a0003c0002t0008g0116 a0003c0009t0017g0179 a0003c0021t0014g0102	9	117	0.0769	14	c.-36 others(33): Show c.-360-3377_-360-3376insGTGTATATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16579480	G G	GCCCCCCC others(7): Show GCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0008 a0001c0012t0006g0008	1	75	0.0133	14	c.-36 others(33): Show c.-361+6299_-361+6300insGGGGGGGGGGGGGG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16584223	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01169.hp2 HG01361.hp2 others(18): Show HG00609.hp2 HG01169.hp2 HG01361.hp2 HG02004.hp1 HG02004.hp2 HG02132.hp1 HG02523.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG03834.hp1 NA18942.hp2 NA18944.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18973.hp2 NA18993.hp2 NA19007.hp1 NA19060.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0010 a0002c0003 others(10): Show a0001c0001 a0001c0010 a0002c0003 a0002c0018 a0003c0002 a0003c0009 a0003c0015 a0003c0022 a0003c0036 a0004c0005 a0004c0006 a0004c0023 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0010t0014 a0002c0003t0021 a0002c0018t0045 a0003c0002t0002 a0003c0002t0008 a0003c0002t0009 a0003c0002t0016 a0003c0009t0001 a0003c0015t0004 a0003c0022t0001 a0003c0036t0004 a0004c0005t0002 a0004c0006t0002 a0004c0023t0002 a0005c0007t0005	a0001c0001t0001g0045 a0001c0001t0001g0103 a0001c0001t0002g0129 others(18): Show a0001c0001t0001g0045 a0001c0001t0001g0103 a0001c0001t0002g0129 a0001c0001t0005g0085 a0001c0010t0014g0082 a0002c0003t0021g0003 a0002c0018t0045g0147 a0003c0002t0002g0089 a0003c0002t0008g0063 a0003c0002t0009g0094 a0003c0002t0016g0111 a0003c0009t0001g0084 a0003c0009t0001g0093 a0003c0015t0004g0044 a0003c0022t0001g0104 a0003c0036t0004g0067 a0004c0005t0002g0075 a0004c0005t0002g0177 a0004c0006t0002g0162 a0004c0023t0002g0101 a0005c0007t0005g0168	21	105	0.2000	14	c.-36 others(33): Show c.-361+1543_-361+1556dupATATATATATATAT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16586043	G G	GCGCACAC others(7): Show GCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0027 a0002c0003t0013g0027	1	129	0.0078	14	c.-48 others(31): Show c.-488-137_-488-136insTGTGTGTGTGTGCG	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0046 a0003c0009t0001g0046	1	42	0.0238	14	c.-48 others(35): Show c.-488-20974_-488-20961dupCACACACACACACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16607088	A A	ATGTTGGT others(7): Show ATGTTGGTCAGGCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(131): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 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 NA18960.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0001c0010 others(30): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0019 a0001c0032 a0001c0033 a0001c0034 a0001c0041 a0002c0003 a0002c0004 a0002c0011 a0002c0018 a0002c0030 a0002c0031 a0003c0002 a0003c0009 a0003c0013 a0003c0015 a0003c0021 a0003c0022 a0003c0036 a0004c0005 a0004c0006 a0004c0014 a0004c0023 a0004c0026 a0004c0037 a0005c0007 a0005c0016 a0005c0017 a0005c0028 a0005c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(71): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0008t0001 a0001c0008t0040 a0001c0008t0047 a0001c0010t0004 a0001c0010t0014 a0001c0010t0023 a0001c0010t0024 a0001c0012t0006 a0001c0012t0048 a0001c0019t0001 a0001c0032t0018 a0001c0033t0001 a0001c0034t0004 a0001c0041t0036 a0002c0003t0001 a0002c0003t0009 a0002c0003t0013 a0002c0003t0021 a0002c0003t0022 a0002c0003t0031 a0002c0003t0033 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0009 a0002c0004t0035 a0002c0004t0049 a0002c0011t0001 a0002c0011t0007 a0002c0018t0045 a0002c0030t0011 a0002c0031t0010 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0008 a0003c0002t0009 a0003c0002t0010 a0003c0002t0016 a0003c0002t0043 a0003c0009t0001 a0003c0009t0017 a0003c0013t0007 a0003c0015t0004 a0003c0015t0025 a0003c0021t0004 a0003c0021t0014 a0003c0022t0001 a0003c0036t0004 a0004c0005t0002 a0004c0005t0008 a0004c0005t0026 a0004c0005t0032 a0004c0006t0002 a0004c0006t0003 a0004c0006t0009 a0004c0014t0001 a0004c0023t0002 a0004c0026t0001 a0004c0037t0001 a0005c0007t0005 a0005c0007t0016 a0005c0007t0019 a0005c0016t0001 a0005c0017t0001 a0005c0028t0003 a0005c0038t0018	a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 others(131): Show a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0158 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0002g0129 a0001c0001t0005g0085 a0001c0001t0010g0128 a0001c0001t0020g0002 a0001c0001t0029g0145 a0001c0001t0030g0021 a0001c0008t0001g0009 a0001c0008t0040g0154 a0001c0008t0047g0060 a0001c0010t0004g0050 a0001c0010t0004g0069 a0001c0010t0004g0086 a0001c0010t0004g0161 a0001c0010t0014g0082 a0001c0010t0023g0023 a0001c0010t0024g0048 a0001c0012t0006g0008 a0001c0012t0006g0014 a0001c0012t0006g0112 a0001c0012t0048g0031 a0001c0019t0001g0107 a0001c0032t0018g0059 a0001c0033t0001g0012 a0001c0034t0004g0065 a0001c0041t0036g0095 a0002c0003t0001g0039 a0002c0003t0001g0042 a0002c0003t0001g0049 a0002c0003t0001g0109 a0002c0003t0001g0130 a0002c0003t0009g0055 a0002c0003t0013g0027 a0002c0003t0013g0033 a0002c0003t0021g0003 a0002c0003t0022g0119 a0002c0003t0031g0058 a0002c0003t0033g0165 a0002c0004t0002g0028 a0002c0004t0002g0056 a0002c0004t0002g0126 a0002c0004t0002g0164 a0002c0004t0003g0006 a0002c0004t0003g0057 a0002c0004t0003g0070 a0002c0004t0003g0166 a0002c0004t0006g0010 a0002c0004t0009g0163 a0002c0004t0035g0018 a0002c0004t0049g0005 a0002c0011t0001g0034 a0002c0011t0007g0019 a0002c0011t0007g0151 a0002c0011t0007g0155 a0002c0018t0045g0147 a0002c0030t0011g0047 a0002c0031t0010g0173 a0003c0002t0002g0089 a0003c0002t0002g0090 a0003c0002t0003g0007 a0003c0002t0003g0061 a0003c0002t0007g0136 a0003c0002t0008g0063 a0003c0002t0008g0081 a0003c0002t0008g0116 a0003c0002t0008g0138 a0003c0002t0008g0140 a0003c0002t0009g0094 a0003c0002t0010g0015 a0003c0002t0016g0111 a0003c0002t0043g0175 a0003c0009t0001g0046 a0003c0009t0001g0073 a0003c0009t0001g0080 a0003c0009t0001g0084 a0003c0009t0001g0093 a0003c0009t0001g0174 a0003c0009t0017g0179 a0003c0013t0007g0022 a0003c0015t0004g0044 a0003c0015t0004g0171 a0003c0015t0025g0142 a0003c0021t0004g0032 a0003c0021t0014g0102 a0003c0022t0001g0104 a0003c0022t0001g0146 a0003c0036t0004g0067 a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 a0004c0005t0002g0122 a0004c0005t0002g0160 a0004c0005t0002g0167 a0004c0005t0002g0177 a0004c0005t0008g0068 a0004c0005t0026g0088 a0004c0005t0032g0099 a0004c0006t0002g0035 a0004c0006t0002g0040 a0004c0006t0002g0097 a0004c0006t0002g0124 a0004c0006t0002g0162 a0004c0006t0002g0169 a0004c0006t0002g0172 a0004c0006t0003g0066 a0004c0006t0009g0110 a0004c0014t0001g0152 a0004c0014t0001g0176 a0004c0023t0002g0101 a0004c0026t0001g0156 a0004c0037t0001g0016 a0005c0007t0005g0036 a0005c0007t0005g0078 a0005c0007t0005g0091 a0005c0007t0005g0092 a0005c0007t0005g0100 a0005c0007t0005g0168 a0005c0007t0016g0153 a0005c0007t0019g0001 a0005c0016t0001g0025 a0005c0016t0001g0127 a0005c0017t0001g0074 a0005c0017t0001g0143 a0005c0028t0003g0149 a0005c0038t0018g0054	134	180	0.7444	14	c.-48 others(35): Show c.-488-21182_-488-21181insCAGCCTGACCAACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16613271	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0182 a0003c0009t0001g0182	1	124	0.0081	14	c.-48 others(35): Show c.-488-27378_-488-27365dupTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16682203	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 NA18942.hp2 others(2): Show HG02055.hp2 HG02486.hp2 NA18942.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0008 a0002c0004 a0002c0011 others(2): Show a0001c0008 a0002c0004 a0002c0011 a0002c0018 a0004c0023	a0001c0008t0040 a0002c0004t0003 a0002c0011t0007 others(2): Show a0001c0008t0040 a0002c0004t0003 a0002c0011t0007 a0002c0018t0002 a0004c0023t0002	a0001c0008t0040g0154 a0002c0004t0003g0070 a0002c0011t0007g0019 others(2): Show a0001c0008t0040g0154 a0002c0004t0003g0070 a0002c0011t0007g0019 a0002c0018t0002g0004 a0004c0023t0002g0101	5	60	0.0833	14	c.-61 others(35): Show c.-614-24303_-614-24302insAAAAAAAAAAAAAA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16686503	C C	CACAGTTT others(7): Show CACAGTTTTACGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(131): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 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 HG03453.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 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 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0008 a0001c0010 others(34): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0019 a0001c0020 a0001c0032 a0001c0033 a0001c0034 a0001c0041 a0001c0042 a0002c0003 a0002c0004 a0002c0011 a0002c0018 a0002c0030 a0002c0039 a0002c0040 a0003c0002 a0003c0009 a0003c0013 a0003c0015 a0003c0021 a0003c0022 a0004c0005 a0004c0006 a0004c0014 a0004c0023 a0004c0026 a0004c0027 a0004c0037 a0005c0007 a0005c0016 a0005c0028 a0005c0029 a0005c0038 a0006c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(83): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0008t0001 a0001c0008t0002 a0001c0008t0010 a0001c0008t0011 a0001c0008t0012 a0001c0008t0040 a0001c0008t0046 a0001c0008t0047 a0001c0010t0004 a0001c0010t0014 a0001c0010t0023 a0001c0010t0024 a0001c0012t0006 a0001c0012t0048 a0001c0019t0001 a0001c0020t0015 a0001c0032t0018 a0001c0033t0001 a0001c0034t0004 a0001c0041t0036 a0001c0042t0038 a0002c0003t0001 a0002c0003t0009 a0002c0003t0013 a0002c0003t0021 a0002c0003t0022 a0002c0003t0031 a0002c0003t0033 a0002c0003t0037 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0009 a0002c0004t0035 a0002c0004t0049 a0002c0011t0001 a0002c0011t0007 a0002c0011t0012 a0002c0011t0042 a0002c0018t0002 a0002c0030t0011 a0002c0039t0012 a0002c0040t0006 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0008 a0003c0002t0009 a0003c0002t0010 a0003c0002t0016 a0003c0002t0041 a0003c0009t0001 a0003c0009t0017 a0003c0013t0001 a0003c0013t0002 a0003c0013t0007 a0003c0015t0004 a0003c0015t0025 a0003c0021t0004 a0003c0021t0014 a0003c0022t0001 a0004c0005t0002 a0004c0006t0002 a0004c0006t0003 a0004c0006t0009 a0004c0014t0001 a0004c0023t0002 a0004c0026t0001 a0004c0027t0001 a0004c0037t0001 a0005c0007t0005 a0005c0007t0016 a0005c0016t0001 a0005c0028t0003 a0005c0029t0034 a0005c0038t0018 a0006c0024t0002	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0103 others(131): Show a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0002g0076 a0001c0001t0005g0085 a0001c0001t0010g0128 a0001c0001t0011g0131 a0001c0001t0020g0002 a0001c0001t0029g0145 a0001c0001t0030g0021 a0001c0008t0001g0009 a0001c0008t0002g0013 a0001c0008t0010g0038 a0001c0008t0011g0053 a0001c0008t0012g0148 a0001c0008t0040g0154 a0001c0008t0046g0062 a0001c0008t0047g0060 a0001c0010t0004g0050 a0001c0010t0004g0086 a0001c0010t0004g0144 a0001c0010t0004g0161 a0001c0010t0014g0082 a0001c0010t0023g0023 a0001c0010t0024g0048 a0001c0012t0006g0008 a0001c0012t0006g0112 a0001c0012t0006g0113 a0001c0012t0048g0031 a0001c0019t0001g0024 a0001c0019t0001g0107 a0001c0020t0015g0125 a0001c0032t0018g0059 a0001c0033t0001g0012 a0001c0034t0004g0065 a0001c0041t0036g0095 a0001c0042t0038g0087 a0002c0003t0001g0039 a0002c0003t0001g0042 a0002c0003t0001g0049 a0002c0003t0009g0055 a0002c0003t0013g0033 a0002c0003t0021g0003 a0002c0003t0022g0119 a0002c0003t0031g0058 a0002c0003t0033g0165 a0002c0003t0037g0150 a0002c0004t0002g0028 a0002c0004t0002g0056 a0002c0004t0002g0126 a0002c0004t0002g0164 a0002c0004t0003g0006 a0002c0004t0003g0057 a0002c0004t0003g0070 a0002c0004t0003g0166 a0002c0004t0006g0010 a0002c0004t0009g0163 a0002c0004t0035g0018 a0002c0004t0049g0005 a0002c0011t0001g0034 a0002c0011t0007g0019 a0002c0011t0007g0151 a0002c0011t0012g0135 a0002c0011t0042g0026 a0002c0018t0002g0004 a0002c0030t0011g0047 a0002c0039t0012g0030 a0002c0040t0006g0132 a0003c0002t0001g0071 a0003c0002t0002g0089 a0003c0002t0002g0090 a0003c0002t0003g0007 a0003c0002t0003g0061 a0003c0002t0007g0136 a0003c0002t0008g0063 a0003c0002t0008g0081 a0003c0002t0008g0116 a0003c0002t0008g0138 a0003c0002t0008g0140 a0003c0002t0009g0094 a0003c0002t0010g0015 a0003c0002t0016g0111 a0003c0002t0041g0079 a0003c0009t0001g0046 a0003c0009t0001g0073 a0003c0009t0001g0084 a0003c0009t0001g0093 a0003c0009t0001g0174 a0003c0009t0001g0182 a0003c0009t0017g0179 a0003c0013t0001g0117 a0003c0013t0002g0029 a0003c0013t0007g0011 a0003c0013t0007g0022 a0003c0015t0004g0044 a0003c0015t0025g0142 a0003c0021t0004g0032 a0003c0021t0014g0102 a0003c0022t0001g0104 a0003c0022t0001g0146 a0004c0005t0002g0075 a0004c0005t0002g0122 a0004c0005t0002g0160 a0004c0005t0002g0177 a0004c0006t0002g0035 a0004c0006t0002g0040 a0004c0006t0002g0097 a0004c0006t0002g0169 a0004c0006t0003g0066 a0004c0006t0009g0110 a0004c0014t0001g0152 a0004c0014t0001g0157 a0004c0014t0001g0176 a0004c0023t0002g0101 a0004c0026t0001g0156 a0004c0027t0001g0064 a0004c0037t0001g0016 a0005c0007t0005g0036 a0005c0007t0005g0091 a0005c0007t0005g0100 a0005c0007t0005g0168 a0005c0007t0016g0153 a0005c0016t0001g0025 a0005c0016t0001g0127 a0005c0028t0003g0149 a0005c0029t0034g0139 a0005c0038t0018g0054 a0006c0024t0002g0170	134	180	0.7444	14	c.-61 others(35): Show c.-614-28603_-614-28602insCCACGTAAAACTGT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16687657	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02257.hp1 HG02723.hp1 others(4): Show HG00609.hp2 HG02257.hp1 HG02723.hp1 HG02895.hp1 HG03516.hp1 NA18944.hp2 NA18973.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0020 a0002c0003 a0002c0004 others(2): Show a0001c0020 a0002c0003 a0002c0004 a0003c0002 a0004c0006	a0001c0020t0015 a0002c0003t0033 a0002c0004t0003 others(4): Show a0001c0020t0015 a0002c0003t0033 a0002c0004t0003 a0002c0004t0009 a0003c0002t0008 a0003c0002t0009 a0004c0006t0002	a0001c0020t0015g0125 a0002c0003t0033g0165 a0002c0004t0003g0057 others(4): Show a0001c0020t0015g0125 a0002c0003t0033g0165 a0002c0004t0003g0057 a0002c0004t0009g0163 a0003c0002t0008g0063 a0003c0002t0009g0094 a0004c0006t0002g0169	7	16	0.4375	14	c.-61 others(35): Show c.-614-29770_-614-29757dupGTGTGTGTGTGTGT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730483	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0166 a0002c0004t0003g0166	1	157	0.0064	14	c.-61 others(35): Show c.-615+22749_-615+22750insTATATATATATATA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111463001	C C	CACACACA others(7): Show CACACACACACATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01243.hp2 others(3): Show HG01168.hp2 HG01169.hp2 HG01243.hp2 HG02559.hp1 HG02572.hp1 HG03579.hp2	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0003 a0003c0006t0003 a0003c0004t0003 a0003c0006t0003	a0003c0004t0003g0013 a0003c0004t0003g0021 a0003c0006t0003g0108 others(3): Show a0003c0004t0003g0013 a0003c0004t0003g0021 a0003c0006t0003g0108 a0003c0006t0003g0112 a0003c0006t0003g0113 a0003c0006t0003g0117	6	265	0.0226	14	c.289 others(33): Show c.2896+1660_2896+1661insATATGTGTGTGTGT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111553604	A A	AAAAAATT others(7): Show AAAAAATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0226 a0001c0001t0004g0226	1	54	0.0185	14	c.348 others(29): Show c.348+553_348+554insAAAAAAAAATTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	3/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111576132	T T	TAACATAA others(7): Show TAACATAACATAACA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show HG01168.hp2 HG01169.hp2 HG02055.hp2 HG02257.hp1 HG02280.hp2 HG02630.hp1 HG03225.hp2 HG03453.hp2	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0005 a0003c0006 a0004c0020 others(1): Show a0003c0005 a0003c0006 a0004c0020 a0006c0009	a0003c0005t0003 a0003c0006t0003 a0004c0020t0003 others(1): Show a0003c0005t0003 a0003c0006t0003 a0004c0020t0003 a0006c0009t0003	a0003c0005t0003g0137 a0003c0006t0003g0111 a0003c0006t0003g0112 others(5): Show a0003c0005t0003g0137 a0003c0006t0003g0111 a0003c0006t0003g0112 a0003c0006t0003g0113 a0003c0006t0003g0114 a0003c0006t0003g0115 a0004c0020t0003g0119 a0006c0009t0003g0105	8	267	0.0300	14	c.252 others(33): Show c.252-20214_252-20213insTGTTATGTTATGTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111584377	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	20	0.0500	14	c.251 others(33): Show c.251+14393_251+14406dupTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18943.hp2 HG01123.hp1 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0082 a0002c0002t0001g0073 a0002c0002t0001g0082	2	25	0.0800	14	c.251 others(31): Show c.251+9779_251+9792dupTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111592782	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03704.hp1 HG02559.hp1 HG03704.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0003 a0001c0001t0002 a0003c0004t0003	a0001c0001t0002g0229 a0003c0004t0003g0013 a0001c0001t0002g0229 a0003c0004t0003g0013	2	79	0.0253	14	c.251 others(31): Show c.251+5988_251+6001dupTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN3_chr14_92053552_92111582	92086253	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02738.hp1 NA18955.hp2 others(4): Show HG00408.hp2 HG02738.hp1 NA18955.hp2 NA19009.hp2 NA19064.hp2 NA19067.hp2 NA19079.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0093 a0003c0004t0005g0099 a0003c0004t0005g0295 others(4): Show a0003c0004t0005g0093 a0003c0004t0005g0099 a0003c0004t0005g0295 a0003c0004t0005g0297 a0003c0004t0005g0305 a0003c0004t0005g0306 a0003c0004t0005g0307	7	185	0.0378	14	c.475 others(31): Show c.475+2463_475+2476dupTTTTTTTTTTTTTT	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	6/10			chr14	TogoVar
ATXN7L1_chr7_105599772_105881599	105619140	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG01516.hp2 others(10): Show HG01074.hp1 HG01099.hp1 HG01516.hp2 HG01517.hp1 HG02132.hp1 HG02630.hp1 HG02896.hp1 HG03516.hp2 NA18747.hp2 NA18970.hp2 NA19010.hp2 NA19056.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0044 a0001c0001t0047	a0001c0001t0001g0006 a0001c0001t0002g0044 a0001c0001t0002g0078 others(10): Show a0001c0001t0001g0006 a0001c0001t0002g0044 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0106 a0001c0001t0002g0145 a0001c0001t0006g0248 a0001c0001t0015g0192 a0001c0001t0015g0213 a0001c0001t0044g0148 a0001c0001t0047g0133	13	23	0.5652	14	c.151 others(33): Show c.1517+1046_1517+1059dupAAAAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTGT others(7): Show GTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00738.hp1 others(6): Show HG00280.hp2 HG00642.hp1 HG00738.hp1 HG01081.hp1 HG02015.hp1 HG02300.hp2 NA18970.hp1 NA19003.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0236 others(6): Show a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0236 a0001c0001t0002g0082 a0001c0001t0005g0083 a0001c0001t0006g0127 a0001c0001t0011g0012 a0001c0001t0011g0156 a0001c0001t0011g0163	9	198	0.0455	14	c.578 others(29): Show c.578+490_578+491insTATATATACACACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105671104	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03831.hp2 HG02165.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0016 a0001c0001t0005g0038 a0001c0001t0003g0016 a0001c0001t0005g0038	2	55	0.0364	14	c.356 others(31): Show c.356-5830_356-5817dupTTTTTTTTTTTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727746	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02622.hp2 others(1): Show HG01257.hp2 HG01258.hp1 HG02622.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0001t0027	a0001c0001t0005g0227 a0001c0001t0007g0116 a0001c0001t0018g0168 others(1): Show a0001c0001t0005g0227 a0001c0001t0007g0116 a0001c0001t0018g0168 a0001c0001t0027g0171	4	71	0.0563	14	c.355 others(33): Show c.355+60844_355+60857dupTATATATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727746	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01081.hp1 others(13): Show HG00642.hp1 HG00738.hp1 HG01081.hp1 HG01346.hp2 HG01358.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02129.hp2 HG02300.hp1 HG03579.hp1 NA18995.hp2 NA19054.hp1 NA19079.hp1 NA19085.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0042 a0001c0001t0046 a0001c0001t0049 a0001c0007t0033	a0001c0001t0001g0045 a0001c0001t0001g0076 a0001c0001t0001g0086 others(13): Show a0001c0001t0001g0045 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0170 a0001c0001t0001g0236 a0001c0001t0001g0251 a0001c0001t0002g0162 a0001c0001t0003g0021 a0001c0001t0003g0161 a0001c0001t0004g0137 a0001c0001t0005g0233 a0001c0001t0009g0020 a0001c0001t0042g0121 a0001c0001t0046g0035 a0001c0001t0049g0087 a0001c0007t0033g0157	16	83	0.1928	14	c.355 others(33): Show c.355+60857_355+60858insTATATATATATACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727777	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01168.hp1 HG02129.hp1 others(1): Show HG00673.hp1 HG01168.hp1 HG02129.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0020	a0001c0001t0002g0118 a0001c0001t0003g0002 a0001c0001t0007g0024 others(1): Show a0001c0001t0002g0118 a0001c0001t0003g0002 a0001c0001t0007g0024 a0001c0001t0020g0077	4	174	0.0230	14	c.355 others(33): Show c.355+60826_355+60827insGTGTATATATATAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105727777	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG01256.hp1 others(7): Show HG00735.hp2 HG01192.hp2 HG01256.hp1 HG01346.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02735.hp1 HG03669.hp2 NA19054.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0012 a0005c0011 a0001c0001 a0001c0012 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0024 a0001c0001t0055 a0001c0012t0001 a0005c0011t0001	a0001c0001t0001g0129 a0001c0001t0003g0016 a0001c0001t0009g0097 others(7): Show a0001c0001t0001g0129 a0001c0001t0003g0016 a0001c0001t0009g0097 a0001c0001t0012g0052 a0001c0001t0013g0109 a0001c0001t0014g0175 a0001c0001t0024g0037 a0001c0001t0055g0098 a0001c0012t0001g0047 a0005c0011t0001g0092	10	180	0.0556	14	c.355 others(33): Show c.355+60826_355+60827insGTATATATATATAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105860128	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0146 a0001c0001t0009g0146	1	93	0.0108	14	c.250 others(33): Show c.250+15670_250+15683dupATATATATATATAT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
ATXN7L3B_chr12_74532835_74550430	74536670	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01109.hp1 HG01167.hp1 others(18): Show HG00280.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01358.hp2 HG01928.hp1 HG01934.hp2 HG02165.hp1 HG02559.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18943.hp2 NA18960.hp2 NA18966.hp2 NA18982.hp1 NA18993.hp1 NA19066.hp2 NA19085.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0056 a0001c0001t0001 a0001c0001t0003 a0001c0001t0056	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0056g0000 a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0056g0000	21	22	0.9545	14	c.-14 others(25): Show c.-1443_-1442insTTTTTTTTTTTTTT	ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding		1164		chr12	TogoVar
ATXN7_chr3_63858867_64008462	63952835	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03579.hp2 NA18906.hp2 HG03471.hp2 HG03579.hp2 NA18906.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0009 a0008c0011t0009	a0008c0011t0009g0029 a0008c0011t0009g0030 a0008c0011t0009g0031 a0008c0011t0009g0029 a0008c0011t0009g0030 a0008c0011t0009g0031	3	68	0.0441	14	c.499 others(29): Show c.499+370_499+383dupTTTTTTTTTTTTTT	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63964073	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0010 a0016c0032t0010	a0016c0032t0010g0089 a0016c0032t0010g0089	1	69	0.0145	14	c.499 others(33): Show c.499+11613_499+11626dupACACACACACACAC	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
AUH_chr9_91208823_91366918	91249297	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01358.hp2 others(9): Show HG00280.hp2 HG00639.hp1 HG01358.hp2 HG02300.hp1 HG02683.hp1 HG03927.hp1 NA18947.hp1 NA18952.hp2 NA18955.hp2 NA18973.hp2 NA18980.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(9): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0120 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346	12	356	0.0337	14	c.656 others(33): Show c.656-28306_656-28305insCTTTTTTTTTTTTT	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	6/9			chr9	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATACACA others(7): Show TATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	213	0.0047	14	c.-41 others(25): Show c.-4104_-4103insGTGTGTGTGTGTAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar

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