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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATRX_chrX_77499880_77791216	77759592	T T	TAATCGCA others(5): Show TAATCGCAGCTGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0087 a0001c0001t0010g0087	1	216	0.0046	12	c.20+ others(29): Show c.20+26378_20+26389dupGCAGCTGCGATT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77790934	G G	GTATATAT others(5): Show GTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00673.hp1 others(16): Show HG00558.hp2 HG00597.hp1 HG00673.hp1 HG02040.hp1 HG02080.hp2 HG02683.hp1 NA18944.hp1 NA18945.hp1 NA18953.hp1 NA18960.hp1 NA18973.hp2 NA18989.hp1 NA18994.hp1 NA19003.hp2 NA19011.hp2 NA19063.hp1 NA19080.hp2 NA19085.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0012 a0004c0010 a0001c0001 a0001c0012 a0004c0010	a0001c0001t0002 a0001c0001t0004 a0001c0012t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0012t0002 a0004c0010t0002	a0001c0001t0002g0070 a0001c0001t0002g0110 a0001c0001t0002g0111 others(16): Show a0001c0001t0002g0070 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0167 a0001c0001t0002g0174 a0001c0001t0002g0181 a0001c0001t0002g0215 a0001c0001t0004g0114 a0001c0012t0002g0212 a0004c0010t0002g0101	19	142	0.1338	12	c.-49 others(23): Show c.-4934_-4933insTATATATATATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4719		chrX	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(5): Show CTATAAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 NA18961.hp1 NA18995.hp1 others(2): Show HG04204.hp1 NA18961.hp1 NA18995.hp1 NA19011.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0002c0002t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0003	a0001c0001t0004g0218 a0002c0002t0001g0015 a0002c0002t0001g0029 others(2): Show a0001c0001t0004g0218 a0002c0002t0001g0015 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0003g0019	5	89	0.0562	12	c.-49 others(23): Show c.-4990_-4989insTATATATTTATA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4775		chrX	TogoVar
ATR_chr3_142444235_142583733	142454437	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02559.hp1 HG03209.hp2 others(1): Show HG00642.hp2 HG02559.hp1 HG03209.hp2 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0013 a0001c0006t0001g0014 a0001c0006t0001g0015 others(1): Show a0001c0006t0001g0013 a0001c0006t0001g0014 a0001c0006t0001g0015 a0001c0006t0001g0016	4	184	0.0217	12	c.765 others(31): Show c.7656-1216_7656-1205dupAAAAAAAAAAAA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	45/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142472085	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG02109.hp1 others(6): Show HG01243.hp1 HG01496.hp2 HG02109.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG03471.hp2 NA18522.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0008 a0004c0009 a0001c0004 a0001c0008 a0004c0009	a0001c0004t0001 a0001c0008t0001 a0004c0009t0001 a0001c0004t0001 a0001c0008t0001 a0004c0009t0001	a0001c0004t0001g0145 a0001c0004t0001g0156 a0001c0004t0001g0159 others(6): Show a0001c0004t0001g0145 a0001c0004t0001g0156 a0001c0004t0001g0159 a0001c0004t0001g0203 a0001c0004t0001g0310 a0001c0008t0001g0196 a0001c0008t0001g0197 a0001c0008t0001g0199 a0004c0009t0001g0148	9	100	0.0900	12	c.622 others(31): Show c.6222-1914_6222-1903dupCACACACACACA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	36/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CATTATAT others(5): Show CATTATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0018 a0001c0006t0001g0018	1	22	0.0455	12	c.589 others(27): Show c.5898+82_5898+83insTATATATATAAT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18970.hp2 NA18964.hp1 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0273 a0002c0002t0001g0261 a0002c0002t0001g0273	2	23	0.0870	12	c.589 others(27): Show c.5898+71_5898+82dupTATATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142516984	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02717.hp2 HG02723.hp1 HG01175.hp1 HG02717.hp2 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0153 a0001c0004t0001g0202 a0001c0004t0002g0005 a0001c0004t0001g0153 a0001c0004t0001g0202 a0001c0004t0002g0005	3	154	0.0195	12	c.438 others(31): Show c.4383-1481_4383-1470dupATATATATATAT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	24/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528854	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0178 a0003c0003t0001g0178	1	299	0.0033	12	c.394 others(31): Show c.3946-4667_3946-4656dupATATATATATAT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(5): Show ATATATATATATT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18960.hp2 HG02109.hp1 NA18960.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0003 a0001c0008 a0003c0003	a0001c0008t0001 a0003c0003t0001 a0001c0008t0001 a0003c0003t0001	a0001c0008t0001g0197 a0003c0003t0001g0174 a0001c0008t0001g0197 a0003c0003t0001g0174	2	100	0.0200	12	c.394 others(31): Show c.3946-4681_3946-4680insAATATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATATAT others(5): Show ATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02280.hp1 HG02135.hp2 HG02280.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0003c0003t0001 a0001c0004t0001 a0003c0003t0001	a0001c0004t0001g0204 a0003c0003t0001g0175 a0001c0004t0001g0204 a0003c0003t0001g0175	2	100	0.0200	12	c.394 others(31): Show c.3946-4681_3946-4680insAAAATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142528879	A A	ATATTTTT others(5): Show ATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0146 a0001c0004t0001g0146	1	99	0.0101	12	c.394 others(31): Show c.3946-4681_3946-4680insAAAAAAAAAATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	21/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142544452	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00735.hp1 others(22): Show HG00621.hp1 HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01943.hp2 HG02723.hp2 HG02896.hp1 HG03041.hp1 HG04184.hp1 NA18522.hp1 NA18942.hp2 NA18943.hp2 NA18957.hp1 NA18961.hp2 NA18964.hp2 NA18973.hp1 NA18984.hp2 NA18998.hp2 NA19006.hp1 NA19010.hp1 NA19043.hp2 NA19055.hp1 NA19082.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0038 others(22): Show a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141	25	136	0.1838	12	c.335 others(31): Show c.3358-1707_3358-1696dupTTTTTTTTTTTT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142558557	A A	AATAAATA others(5): Show AATAAATAGATAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0154 a0001c0004t0001g0154	1	271	0.0037	12	c.188 others(27): Show c.1885+66_1885+67insCTATCTATTTAT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	8/46						chr3	TogoVar
ATXN10_chr22_45666834_45850307	45727331	A A	ATATCTAT others(5): Show ATATCTATCTACC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	49	0.0204	12	c.729 others(29): Show c.729-2084_729-2083insCCTATCTATCTA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45727331	A A	ATATCTAT others(5): Show ATATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02135.hp1 HG02897.hp1 others(11): Show HG00140.hp2 HG02135.hp1 HG02897.hp1 HG03927.hp2 NA18522.hp1 NA18906.hp1 NA18967.hp2 NA18993.hp1 NA19002.hp1 NA19004.hp2 NA19056.hp1 NA19062.hp1 NA19076.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0027 others(11): Show a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0150 a0001c0001t0001g0187 a0001c0001t0001g0268 a0001c0001t0002g0106 a0001c0001t0004g0225 a0001c0001t0005g0291 a0001c0001t0007g0206 a0001c0001t0008g0301	14	62	0.2258	12	c.729 others(29): Show c.729-2060_729-2049dupATCTATCTATCT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45734869	A A	ATATTATT others(5): Show ATATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01891.hp1 HG02055.hp2 others(34): Show HG00408.hp1 HG01891.hp1 HG02055.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18949.hp1 NA18964.hp1 NA18967.hp1 NA19043.hp1 NA19074.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(34): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0130 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0315 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0005g0071 a0001c0001t0005g0292 a0001c0001t0009g0133 a0001c0001t0011g0136 a0001c0001t0012g0081	37	150	0.2467	12	c.895 others(29): Show c.895-3842_895-3831dupATTATTATTATT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45740719	C C	CACACACA others(5): Show CACACACATACAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0081 a0001c0001t0012g0081	1	212	0.0047	12	c.117 others(29): Show c.1173+182_1173+183insCACACATACATA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	282	0.0035	12	c.117 others(33): Show c.1173+11227_1173+11228insAAAAAAAAATAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751763	A A	AAAAAATA others(5): Show AAAAAATAATAAT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	282	0.0035	12	c.117 others(33): Show c.1173+11227_1173+11228insAAATAATAATAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45752565	T T	TTGGGGCT others(5): Show TTGGGGCTGGGGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp1 HG02895.hp2 others(2): Show HG02109.hp2 HG02809.hp1 HG02895.hp2 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 others(2): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0265	5	147	0.0340	12	c.117 others(33): Show c.1173+12048_1173+12059dupGGGCTGGGGCTG		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45753377	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	5	0.2000	12	c.117 others(33): Show c.1173+12876_1173+12887dupTTTTTTTTTTTT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16299628	A A	ACGATTGG others(5): Show ACGATTGGAAGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG01070.hp1 HG01257.hp1 others(23): Show HG00609.hp2 HG01070.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01884.hp2 HG02056.hp2 HG02135.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG03041.hp1 HG03130.hp1 HG03516.hp2 HG04115.hp2 NA18612.hp2 NA18986.hp1 NA19007.hp2 NA19009.hp1 NA19062.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0002c0004 others(7): Show a0001c0001 a0001c0008 a0002c0004 a0002c0011 a0003c0002 a0003c0009 a0004c0005 a0004c0006 a0005c0007 a0005c0028	a0001c0001t0044 a0001c0008t0040 a0002c0004t0003 others(11): Show a0001c0001t0044 a0001c0008t0040 a0002c0004t0003 a0002c0004t0049 a0002c0011t0042 a0003c0002t0003 a0003c0002t0008 a0003c0002t0041 a0003c0002t0043 a0003c0009t0017 a0004c0005t0008 a0004c0006t0003 a0005c0007t0019 a0005c0028t0003	a0001c0001t0044g0118 a0001c0008t0040g0154 a0002c0004t0003g0006 others(23): Show a0001c0001t0044g0118 a0001c0008t0040g0154 a0002c0004t0003g0006 a0002c0004t0003g0051 a0002c0004t0003g0057 a0002c0004t0003g0070 a0002c0004t0003g0114 a0002c0004t0003g0166 a0002c0004t0049g0005 a0002c0011t0042g0026 a0003c0002t0003g0007 a0003c0002t0003g0061 a0003c0002t0003g0133 a0003c0002t0008g0063 a0003c0002t0008g0081 a0003c0002t0008g0116 a0003c0002t0008g0138 a0003c0002t0008g0140 a0003c0002t0041g0079 a0003c0002t0043g0175 a0003c0009t0017g0121 a0003c0009t0017g0179 a0004c0005t0008g0068 a0004c0006t0003g0066 a0005c0007t0019g0001 a0005c0028t0003g0149	26	180	0.1444	12	c.67 others(23): Show c.6700_*6701insAACTTCCAATCG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	8/8				6700		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16308322	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02523.hp1 others(2): Show HG01257.hp1 HG01258.hp1 HG02523.hp1 HG03453.hp2 NA18952.hp1	a0003 a0004 a0003 a0004	a0003c0009 a0004c0005 a0003c0009 a0004c0005	a0003c0009t0001 a0003c0009t0017 a0004c0005t0002 a0003c0009t0001 a0003c0009t0017 a0004c0005t0002	a0003c0009t0001g0080 a0003c0009t0001g0182 a0003c0009t0017g0121 others(2): Show a0003c0009t0001g0080 a0003c0009t0001g0182 a0003c0009t0017g0121 a0003c0009t0017g0179 a0004c0005t0002g0167	5	30	0.1667	12	c.191 others(31): Show c.1918-1475_1918-1464dupTGTGTGTGTGTG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16316865	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02895.hp2 HG03041.hp2 others(2): Show HG02055.hp1 HG02895.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0008 a0003c0013 others(1): Show a0001c0001 a0001c0008 a0003c0013 a0006c0024	a0001c0001t0002 a0001c0008t0001 a0001c0008t0047 others(2): Show a0001c0001t0002 a0001c0008t0001 a0001c0008t0047 a0003c0013t0002 a0006c0024t0002	a0001c0001t0002g0077 a0001c0008t0001g0009 a0001c0008t0047g0060 others(2): Show a0001c0001t0002g0077 a0001c0008t0001g0009 a0001c0008t0047g0060 a0003c0013t0002g0029 a0006c0024t0002g0170	5	45	0.1111	12	c.191 others(31): Show c.1917+9517_1917+9528dupAAAAAAAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327684	A A	ATGCTGCT others(5): Show ATGCTGCTGCTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02135.hp2 HG02451.hp1 HG02735.hp1 others(5): Show HG02135.hp2 HG02451.hp1 HG02735.hp1 NA18944.hp1 NA18946.hp1 NA18973.hp1 NA19009.hp2 NA19030.hp1	a0004 a0005 a0004 a0005	a0004c0006 a0005c0016 a0004c0006 a0005c0016	a0004c0006t0002 a0004c0006t0003 a0005c0016t0001 a0004c0006t0002 a0004c0006t0003 a0005c0016t0001	a0004c0006t0002g0040 a0004c0006t0002g0097 a0004c0006t0002g0162 others(5): Show a0004c0006t0002g0040 a0004c0006t0002g0097 a0004c0006t0002g0162 a0004c0006t0002g0169 a0004c0006t0002g0172 a0004c0006t0003g0066 a0005c0016t0001g0025 a0005c0016t0001g0127	8	113	0.0708	12	c.615 others(19): Show c.615_626dupGCAGCAGCAGCA	p.Gln others(13): Show p.Gln205_Gln208dup	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1518/10557	626/2448	209/815			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16395270	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0013 a0001c0008t0002g0013	1	142	0.0070	12	c.-16 others(33): Show c.-160-66812_-160-66801dupTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16454125	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0009 a0001c0008t0001g0009	1	43	0.0233	12	c.-16 others(33): Show c.-161+31835_-161+31846dupTTTTTTTTTTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16484991	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03516.hp2 HG04184.hp1 HG01361.hp2 HG03516.hp2 HG04184.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0002 a0003c0022 a0002c0003 a0003c0002 a0003c0022	a0002c0003t0001 a0003c0002t0003 a0003c0022t0001 a0002c0003t0001 a0003c0002t0003 a0003c0022t0001	a0002c0003t0001g0130 a0003c0002t0003g0133 a0003c0022t0001g0104 a0002c0003t0001g0130 a0003c0002t0003g0133 a0003c0022t0001g0104	3	45	0.0667	12	c.-16 others(29): Show c.-161+980_-161+981insTACACACACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16491258	A A	AATTATTA others(5): Show AATTATTATTATT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0072 a0004c0005t0002g0072	1	67	0.0149	12	c.-29 others(31): Show c.-298-5161_-298-5150dupAATAATAATAAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	5/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(5): Show TATATATACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0050 a0001c0010t0004g0050	1	109	0.0092	12	c.-36 others(31): Show c.-360-3377_-360-3376insGTGTGTATATAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(5): Show TATATATATACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp2 HG02155.hp2 others(13): Show HG00408.hp2 HG01074.hp2 HG02155.hp2 HG02523.hp2 HG03688.hp2 HG04184.hp2 NA18612.hp1 NA18747.hp2 NA18946.hp1 NA18952.hp1 NA18973.hp1 NA18993.hp1 NA18993.hp2 NA19007.hp2 NA19060.hp2 NA19062.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0010 a0003c0002 others(6): Show a0001c0001 a0001c0010 a0003c0002 a0003c0009 a0003c0015 a0004c0005 a0004c0006 a0004c0027 a0005c0007	a0001c0001t0001 a0001c0001t0005 a0001c0010t0004 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0010t0004 a0003c0002t0007 a0003c0002t0041 a0003c0009t0001 a0003c0015t0004 a0004c0005t0002 a0004c0005t0008 a0004c0006t0002 a0004c0027t0001 a0005c0007t0005	a0001c0001t0001g0043 a0001c0001t0001g0123 a0001c0001t0001g0178 others(13): Show a0001c0001t0001g0043 a0001c0001t0001g0123 a0001c0001t0001g0178 a0001c0001t0005g0085 a0001c0010t0004g0069 a0003c0002t0007g0136 a0003c0002t0041g0079 a0003c0009t0001g0073 a0003c0015t0004g0171 a0004c0005t0002g0075 a0004c0005t0002g0167 a0004c0005t0008g0068 a0004c0006t0002g0097 a0004c0006t0002g0169 a0004c0027t0001g0064 a0005c0007t0005g0092	16	124	0.1290	12	c.-36 others(31): Show c.-360-3377_-360-3376insGTGTATATATAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16526064	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0166 a0002c0004t0003g0166	1	109	0.0092	12	c.-36 others(31): Show c.-360-3377_-360-3376insGTATATATATAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16584223	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG01070.hp1 others(5): Show HG00408.hp2 HG00597.hp2 HG01070.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG02300.hp2 NA18612.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0010 a0002c0003 a0003c0002 others(3): Show a0001c0010 a0002c0003 a0003c0002 a0003c0009 a0004c0005 a0005c0007	a0001c0010t0004 a0002c0003t0001 a0002c0003t0022 others(5): Show a0001c0010t0004 a0002c0003t0001 a0002c0003t0022 a0003c0002t0008 a0003c0009t0001 a0003c0009t0017 a0004c0005t0002 a0005c0007t0019	a0001c0010t0004g0144 a0002c0003t0001g0042 a0002c0003t0022g0119 others(5): Show a0001c0010t0004g0144 a0002c0003t0001g0042 a0002c0003t0022g0119 a0003c0002t0008g0138 a0003c0009t0001g0073 a0003c0009t0017g0121 a0004c0005t0002g0122 a0005c0007t0019g0001	8	92	0.0870	12	c.-36 others(31): Show c.-361+1545_-361+1556dupATATATATATAT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16586043	G G	GCGCACAC others(5): Show GCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0008 a0001c0012t0006g0008	1	129	0.0078	12	c.-48 others(29): Show c.-488-137_-488-136insTGTGTGTGTGCG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0033 a0002c0003t0033	a0002c0003t0033g0165 a0002c0003t0033g0165	1	42	0.0238	12	c.-48 others(33): Show c.-488-20972_-488-20961dupCACACACACACA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16674049	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02886.hp2 HG00438.hp1 HG02886.hp2	a0003 a0004 a0003 a0004	a0003c0002 a0004c0014 a0003c0002 a0004c0014	a0003c0002t0003 a0004c0014t0001 a0003c0002t0003 a0004c0014t0001	a0003c0002t0003g0007 a0004c0014t0001g0157 a0003c0002t0003g0007 a0004c0014t0001g0157	2	178	0.0112	12	c.-61 others(33): Show c.-614-16149_-614-16148insTATATATATATA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16679276	G G	GTGGATGG others(5): Show GTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02723.hp1 HG01496.hp2 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0003 a0001c0010 a0002c0003	a0001c0010t0004 a0002c0003t0033 a0001c0010t0004 a0002c0003t0033	a0001c0010t0004g0144 a0002c0003t0033g0165 a0001c0010t0004g0144 a0002c0003t0033g0165	2	103	0.0194	12	c.-61 others(33): Show c.-614-21387_-614-21376dupTCCATCCATCCA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16682203	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00609.hp1 others(71): Show HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG02004.hp2 HG02055.hp1 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03492.hp2 HG03516.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18993.hp1 NA18993.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19060.hp1 NA19062.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0001c0010 others(29): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0019 a0001c0020 a0001c0032 a0001c0033 a0001c0041 a0001c0042 a0002c0003 a0002c0004 a0002c0011 a0002c0030 a0002c0039 a0002c0040 a0003c0002 a0003c0009 a0003c0013 a0003c0015 a0003c0022 a0004c0005 a0004c0006 a0004c0014 a0004c0026 a0004c0027 a0004c0037 a0005c0007 a0005c0016 a0005c0028 a0005c0029 a0005c0038	a0001c0001t0001 a0001c0001t0010 a0001c0001t0020 others(55): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0020 a0001c0001t0030 a0001c0008t0001 a0001c0008t0010 a0001c0008t0011 a0001c0008t0012 a0001c0008t0046 a0001c0008t0047 a0001c0010t0004 a0001c0012t0006 a0001c0012t0048 a0001c0019t0001 a0001c0020t0015 a0001c0032t0018 a0001c0033t0001 a0001c0041t0036 a0001c0042t0038 a0002c0003t0001 a0002c0003t0009 a0002c0003t0031 a0002c0003t0033 a0002c0003t0037 a0002c0004t0002 a0002c0004t0003 a0002c0004t0009 a0002c0004t0035 a0002c0004t0049 a0002c0011t0012 a0002c0011t0042 a0002c0030t0011 a0002c0039t0012 a0002c0040t0006 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0008 a0003c0002t0016 a0003c0002t0041 a0003c0009t0001 a0003c0009t0017 a0003c0013t0002 a0003c0013t0007 a0003c0015t0004 a0003c0022t0001 a0004c0005t0002 a0004c0006t0009 a0004c0014t0001 a0004c0026t0001 a0004c0027t0001 a0004c0037t0001 a0005c0007t0005 a0005c0007t0016 a0005c0016t0001 a0005c0028t0003 a0005c0029t0034 a0005c0038t0018	a0001c0001t0001g0043 a0001c0001t0001g0103 a0001c0001t0001g0158 others(71): Show a0001c0001t0001g0043 a0001c0001t0001g0103 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0181 a0001c0001t0010g0128 a0001c0001t0020g0002 a0001c0001t0030g0021 a0001c0008t0001g0009 a0001c0008t0010g0038 a0001c0008t0011g0053 a0001c0008t0012g0148 a0001c0008t0046g0062 a0001c0008t0047g0060 a0001c0010t0004g0086 a0001c0012t0006g0112 a0001c0012t0048g0031 a0001c0019t0001g0024 a0001c0020t0015g0125 a0001c0032t0018g0059 a0001c0033t0001g0012 a0001c0041t0036g0095 a0001c0042t0038g0087 a0002c0003t0001g0039 a0002c0003t0009g0055 a0002c0003t0031g0058 a0002c0003t0033g0165 a0002c0003t0037g0150 a0002c0004t0002g0028 a0002c0004t0002g0056 a0002c0004t0002g0126 a0002c0004t0002g0164 a0002c0004t0003g0006 a0002c0004t0003g0166 a0002c0004t0009g0163 a0002c0004t0035g0018 a0002c0004t0049g0005 a0002c0011t0012g0135 a0002c0011t0042g0026 a0002c0030t0011g0047 a0002c0039t0012g0030 a0002c0040t0006g0132 a0003c0002t0001g0071 a0003c0002t0002g0089 a0003c0002t0003g0061 a0003c0002t0008g0116 a0003c0002t0008g0140 a0003c0002t0016g0111 a0003c0002t0041g0079 a0003c0009t0001g0046 a0003c0009t0001g0084 a0003c0009t0001g0093 a0003c0009t0017g0179 a0003c0013t0002g0029 a0003c0013t0007g0011 a0003c0013t0007g0022 a0003c0015t0004g0044 a0003c0022t0001g0104 a0004c0005t0002g0075 a0004c0005t0002g0122 a0004c0006t0009g0110 a0004c0014t0001g0176 a0004c0026t0001g0156 a0004c0027t0001g0064 a0004c0037t0001g0016 a0005c0007t0005g0091 a0005c0007t0005g0100 a0005c0007t0005g0168 a0005c0007t0016g0153 a0005c0016t0001g0025 a0005c0016t0001g0127 a0005c0028t0003g0149 a0005c0029t0034g0139 a0005c0038t0018g0054	74	129	0.5736	12	c.-61 others(33): Show c.-614-24303_-614-24302insAAAAAAAAAAAA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16687657	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01261.hp1 others(14): Show HG00408.hp2 HG00423.hp2 HG01261.hp1 HG01496.hp2 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02132.hp2 HG02135.hp1 HG02523.hp2 HG02965.hp1 HG02970.hp2 HG03209.hp2 HG03453.hp2 NA18946.hp2 NA18951.hp2 NA18952.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0010 a0001c0019 others(9): Show a0001c0001 a0001c0010 a0001c0019 a0002c0003 a0002c0040 a0003c0002 a0003c0009 a0003c0013 a0003c0015 a0004c0005 a0004c0014 a0005c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0001c0010t0004 a0001c0019t0001 a0002c0003t0009 a0002c0040t0006 a0003c0002t0008 a0003c0009t0001 a0003c0013t0001 a0003c0013t0002 a0003c0015t0025 a0004c0005t0002 a0004c0005t0032 a0004c0014t0001 a0005c0007t0005	a0001c0001t0001g0105 a0001c0001t0005g0085 a0001c0001t0029g0145 others(14): Show a0001c0001t0001g0105 a0001c0001t0005g0085 a0001c0001t0029g0145 a0001c0010t0004g0144 a0001c0019t0001g0107 a0002c0003t0009g0055 a0002c0040t0006g0132 a0003c0002t0008g0081 a0003c0009t0001g0073 a0003c0009t0001g0182 a0003c0013t0001g0117 a0003c0013t0002g0029 a0003c0015t0025g0142 a0004c0005t0002g0160 a0004c0005t0032g0099 a0004c0014t0001g0152 a0005c0007t0005g0036	17	26	0.6538	12	c.-61 others(33): Show c.-614-29768_-614-29757dupGTGTGTGTGTGT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730483	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0010 a0002c0004t0006g0010	1	157	0.0064	12	c.-61 others(33): Show c.-615+22749_-615+22750insTATATATATATA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0026 a0004c0005t0026	a0004c0005t0026g0088 a0004c0005t0026g0088	1	45	0.0222	12	c.-61 others(33): Show c.-615+22734_-615+22745dupTATATATATATA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTATGTAT others(5): Show GTATGTATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0042 a0002c0011t0042	a0002c0011t0042g0026 a0002c0011t0042g0026	1	45	0.0222	12	c.-61 others(33): Show c.-615+22745_-615+22746insTATATATACATA		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16745933	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0012 a0001c0008t0012	a0001c0008t0012g0148 a0001c0008t0012g0148	1	18	0.0556	12	c.-61 others(31): Show c.-615+7288_-615+7299dupACACACACACAC		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16761557	G G	GCCCTCCC others(5): Show GCCCTCCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0005	a0005c0007t0005g0092 a0005c0007t0005g0092	1	143	0.0070	12	c.-99 others(21): Show c.-990_-989insAGGGAGGGAGGG		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding					98		chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28822935	G G	GCCCCCCC others(5): Show GCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG03942.hp2 HG02040.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0001 a0001c0001t0001 a0001c0020t0001	a0001c0001t0001g0025 a0001c0020t0001g0006 a0001c0001t0001g0025 a0001c0020t0001g0006	2	112	0.0179	12	c.-32 others(21): Show c.-325_-324insCCCCCCCCCCCC		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding					63		chr16	TogoVar
ATXN2_chr12_111447214_111604315	111463001	C C	CACACACA others(5): Show CACACACACACAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0003 a0004c0020t0003	a0004c0020t0003g0119 a0004c0020t0003g0119	1	260	0.0038	12	c.289 others(31): Show c.2896+1660_2896+1661insATGTGTGTGTGT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111463001	C C	CACACACA others(5): Show CACACACACATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02055.hp1 HG02055.hp2 others(9): Show HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp2 HG02486.hp1 HG02630.hp1 HG02717.hp1 HG02970.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 NA18906.hp2	a0003 a0006 a0009 a0003 a0006 a0009	a0003c0004 a0003c0005 a0003c0006 others(2): Show a0003c0004 a0003c0005 a0003c0006 a0006c0009 a0009c0022	a0003c0004t0003 a0003c0004t0005 a0003c0005t0003 others(3): Show a0003c0004t0003 a0003c0004t0005 a0003c0005t0003 a0003c0006t0003 a0006c0009t0003 a0009c0022t0003	a0003c0004t0003g0009 a0003c0004t0003g0016 a0003c0004t0003g0017 others(9): Show a0003c0004t0003g0009 a0003c0004t0003g0016 a0003c0004t0003g0017 a0003c0004t0005g0011 a0003c0005t0003g0137 a0003c0006t0003g0107 a0003c0006t0003g0111 a0003c0006t0003g0114 a0003c0006t0003g0115 a0006c0009t0003g0105 a0006c0009t0003g0106 a0009c0022t0003g0121	12	271	0.0443	12	c.289 others(31): Show c.2896+1660_2896+1661insATATGTGTGTGT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111464247	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 NA19043.hp2 HG02055.hp1 HG02965.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0006 a0003c0004t0003 a0003c0004t0005 a0001c0001t0006 a0003c0004t0003 a0003c0004t0005	a0001c0001t0006g0265 a0003c0004t0003g0015 a0003c0004t0005g0011 a0001c0001t0006g0265 a0003c0004t0003g0015 a0003c0004t0005g0011	3	86	0.0349	12	c.289 others(29): Show c.2896+403_2896+414dupACACACACACAC		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24						chr12	TogoVar
ATXN2_chr12_111447214_111604315	111483194	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0216	1	200	0.0050	12	c.252 others(31): Show c.2524+2059_2524+2070dupGTGTGTGTGTGT		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	18/24						chr12	TogoVar

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