Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ATRNL1_chr10_115088365_115953999	115389580	ATATATAT others(5): Show ATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0027 a0001c0007t0027	a0001c0007t0027g0006 a0001c0007t0027g0006	1	124	0.0081	-12	c.317 others(31): Show c.3176-5077_3176-5066delATATATATATTT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115516712	ATCTTATG others(5): Show ATCTTATGACTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00738.hp1 others(42): Show HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01515.hp1 HG01943.hp1 HG01952.hp2 HG02015.hp2 HG02145.hp1 HG02258.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp2 NA18522.hp2 NA18906.hp2 NA18957.hp1 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19011.hp1 NA19030.hp1 NA19070.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0012 a0001c0013 a0001c0015 a0002c0008	a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 others(24): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0019 a0001c0001t0024 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0014 a0001c0003t0015 a0001c0003t0038 a0001c0003t0039 a0001c0003t0041 a0001c0003t0045 a0001c0003t0047 a0001c0006t0009 a0001c0009t0005 a0001c0012t0001 a0001c0013t0009 a0001c0015t0034 a0002c0008t0011 a0002c0008t0044	a0001c0001t0010g0017 a0001c0001t0011g0121 a0001c0001t0019g0019 others(42): Show a0001c0001t0010g0017 a0001c0001t0011g0121 a0001c0001t0019g0019 a0001c0001t0024g0024 a0001c0002t0001g0039 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0110 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0052 a0001c0002t0004g0054 a0001c0002t0004g0056 a0001c0002t0004g0065 a0001c0002t0004g0127 a0001c0002t0005g0036 a0001c0002t0005g0041 a0001c0002t0005g0042 a0001c0002t0005g0044 a0001c0002t0005g0051 a0001c0002t0005g0055 a0001c0002t0006g0060 a0001c0002t0006g0089 a0001c0002t0028g0077 a0001c0003t0001g0086 a0001c0003t0002g0083 a0001c0003t0003g0047 a0001c0003t0004g0040 a0001c0003t0014g0092 a0001c0003t0015g0124 a0001c0003t0038g0122 a0001c0003t0039g0126 a0001c0003t0041g0045 a0001c0003t0045g0093 a0001c0003t0047g0128 a0001c0006t0009g0085 a0001c0009t0005g0057 a0001c0012t0001g0070 a0001c0013t0009g0079 a0001c0015t0034g0096 a0002c0008t0011g0072 a0002c0008t0044g0061	45	126	0.3571	-12	c.365 others(31): Show c.3655-2548_3655-2537delTTATGACTTTTC		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	24/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115527992	CCCTCCCT others(5): Show CCCTCCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03540.hp2 HG02055.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0084 a0001c0001t0008g0013 a0001c0001t0008g0084	2	93	0.0215	-12	c.371 others(31): Show c.3716+8672_3716+8683delCCCTTCCTTCCT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	25/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115528025	CCCTCCTT others(5): Show CCCTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0032	1	126	0.0079	-12	c.371 others(31): Show c.3716+8703_3716+8714delCTCCTTCCTTTC		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	25/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115630827	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0089 a0001c0002t0006g0089	1	30	0.0333	-12	c.379 others(33): Show c.3795+81327_3795+81338delCACACACACACA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115637990	TTTTTATA others(5): Show TTTTTATAAAGTC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0015 a0001c0003t0031g0015	1	126	0.0079	-12	c.379 others(33): Show c.3795+88468_3795+88479delTTTATAAAGTCT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115651244	AGGGCTAC others(5): Show AGGGCTACCTATT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	126	0.0079	-12	c.379 others(33): Show c.3796-76000_3796-75989delCTACCTATTGGG		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115728298	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp2 HG00639.hp1 HG01071.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0014 a0001c0012 a0002c0014	a0001c0012t0001 a0002c0014t0009 a0001c0012t0001 a0002c0014t0009	a0001c0012t0001g0070 a0002c0014t0009g0071 a0001c0012t0001g0070 a0002c0014t0009g0071	2	18	0.1111	-12	c.390 others(29): Show c.3903+957_3903+968delAAAAAAAAAAAA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115740843	CACACACA others(5): Show CACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG00738.hp2 others(17): Show HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp2 HG02280.hp2 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp2 HG03471.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0002c0008	a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 others(12): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0042 a0001c0005t0007 a0001c0005t0018 a0001c0005t0021 a0001c0005t0032 a0001c0007t0027 a0002c0008t0011	a0001c0001t0002g0014 a0001c0001t0002g0113 a0001c0001t0002g0115 others(17): Show a0001c0001t0002g0014 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0008g0023 a0001c0001t0013g0018 a0001c0001t0019g0019 a0001c0001t0020g0117 a0001c0001t0023g0022 a0001c0001t0025g0020 a0001c0001t0026g0021 a0001c0001t0042g0099 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0001c0005t0021g0007 a0001c0005t0032g0005 a0001c0007t0027g0006 a0002c0008t0011g0072	20	126	0.1587	-12	c.390 others(33): Show c.3903+13501_3903+13512delACACACACACAA		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115837466	CCACACAC others(5): Show CCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01515.hp2 HG01891.hp2 others(15): Show HG00741.hp2 HG01515.hp2 HG01891.hp2 HG01952.hp1 HG02132.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02630.hp1 HG02723.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 NA18957.hp1 NA18957.hp2 NA19011.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0002t0001 a0001c0006t0013 a0001c0007t0030 a0001c0013t0009	a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0074 others(15): Show a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0003g0064 a0001c0001t0003g0095 a0001c0001t0010g0017 a0001c0001t0014g0001 a0001c0001t0015g0062 a0001c0001t0023g0022 a0001c0001t0024g0024 a0001c0002t0001g0043 a0001c0006t0013g0029 a0001c0007t0030g0008 a0001c0013t0009g0079	18	22	0.8182	-12	c.390 others(33): Show c.3904-10361_3904-10350delACACACACACAC		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115871469	TTGTGTGT others(5): Show TTGTGTGTGTGTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02717.hp1 HG02818.hp2 HG01109.hp2 HG02717.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0003 a0001c0003t0014 a0001c0007t0027 a0001c0001t0003 a0001c0003t0014 a0001c0007t0027	a0001c0001t0003g0059 a0001c0003t0014g0092 a0001c0007t0027g0006 a0001c0001t0003g0059 a0001c0003t0014g0092 a0001c0007t0027g0006	3	18	0.1667	-12	c.401 others(33): Show c.4018+23480_4018+23491delGTGTGTGTGTAT		ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28					INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3478921	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01106.hp1 others(10): Show HG00639.hp1 HG01074.hp1 HG01106.hp1 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG02647.hp2 HG03130.hp1 HG03195.hp1 NA18952.hp2 NA18985.hp1 NA19075.hp1 NA19081.hp1	a0001 a0003 a0013 others(1): Show a0001 a0003 a0013 a0016	a0001c0003 a0001c0007 a0003c0008 others(4): Show a0001c0003 a0001c0007 a0003c0008 a0003c0017 a0003c0018 a0013c0021 a0016c0032	a0001c0003t0010 a0001c0003t0035 a0001c0003t0037 others(7): Show a0001c0003t0010 a0001c0003t0035 a0001c0003t0037 a0001c0007t0006 a0003c0008t0005 a0003c0008t0029 a0003c0017t0021 a0003c0018t0007 a0013c0021t0034 a0016c0032t0001	a0001c0003t0010g0206 a0001c0003t0035g0205 a0001c0003t0037g0194 others(10): Show a0001c0003t0010g0206 a0001c0003t0035g0205 a0001c0003t0037g0194 a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203 a0003c0008t0005g0198 a0003c0008t0005g0199 a0003c0008t0029g0196 a0003c0017t0021g0197 a0003c0018t0007g0200 a0013c0021t0034g0204 a0016c0032t0001g0195	13	174	0.0747	-12	c.410 others(29): Show c.410+7413_410+7424delTTTTTTTTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3484909	AATTATTA others(5): Show AATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01106.hp1 others(7): Show HG00639.hp1 HG01074.hp1 HG01106.hp1 HG01358.hp2 HG01433.hp1 HG01884.hp1 NA18952.hp2 NA18985.hp1 NA19075.hp1 NA19081.hp1	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0003 a0001c0007 a0003c0008 others(3): Show a0001c0003 a0001c0007 a0003c0008 a0003c0017 a0003c0018 a0016c0032	a0001c0003t0037 a0001c0007t0006 a0003c0008t0005 others(4): Show a0001c0003t0037 a0001c0007t0006 a0003c0008t0005 a0003c0008t0029 a0003c0017t0021 a0003c0018t0007 a0016c0032t0001	a0001c0003t0037g0194 a0001c0007t0006g0201 a0001c0007t0006g0202 others(7): Show a0001c0003t0037g0194 a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203 a0003c0008t0005g0198 a0003c0008t0005g0199 a0003c0008t0029g0196 a0003c0017t0021g0197 a0003c0018t0007g0200 a0016c0032t0001g0195	10	112	0.0893	-12	c.410 others(31): Show c.410+13420_410+13431delATTATTATTATT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3485610	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0034 a0013c0021t0034	a0013c0021t0034g0204 a0013c0021t0034g0204	1	43	0.0233	-12	c.410 others(31): Show c.410+14111_410+14122delTTTTTTTTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3488946	ATGTTTGT others(5): Show ATGTTTGTTTGTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0013 a0004c0016t0013	a0004c0016t0013g0167 a0004c0016t0013g0167	1	211	0.0047	-12	c.410 others(31): Show c.410+17447_410+17458delGTTTGTTTGTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3492867	GTGCGCAC others(5): Show GTGCGCACGCACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02145.hp2 others(7): Show HG01243.hp2 HG01891.hp1 HG02145.hp2 HG02486.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03453.hp1 HG03579.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0001c0005 a0001c0006 others(2): Show a0001c0003 a0001c0005 a0001c0006 a0008c0019 a0008c0020	a0001c0003t0002 a0001c0003t0031 a0001c0005t0007 others(3): Show a0001c0003t0002 a0001c0003t0031 a0001c0005t0007 a0001c0006t0003 a0008c0019t0004 a0008c0020t0014	a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 others(7): Show a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0031g0218 a0001c0005t0007g0213 a0001c0006t0003g0211 a0001c0006t0003g0212 a0008c0019t0004g0210 a0008c0020t0014g0209	10	214	0.0467	-12	c.410 others(31): Show c.410+21351_410+21362delTGCGCACGCACA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28						chr20	TogoVar
ATRN_chr20_3466018_3656118	3504688	GATAATAA others(5): Show GATAATAATAATA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0097 a0001c0002t0004g0097	1	57	0.0175	-12	c.411 others(31): Show c.411-30525_411-30514delATAATAATAATA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3535588	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01358.hp2 NA19043.hp2 HG01106.hp1 HG01358.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0003c0017 a0001c0001 a0003c0008 a0003c0017	a0001c0001t0015 a0003c0008t0029 a0003c0017t0021 a0001c0001t0015 a0003c0008t0029 a0003c0017t0021	a0001c0001t0015g0005 a0003c0008t0029g0196 a0003c0017t0021g0197 a0001c0001t0015g0005 a0003c0008t0029g0196 a0003c0017t0021g0197	3	59	0.0508	-12	c.494 others(27): Show c.494+280_494+291delCACACACACACA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3539464	TGAGAAAC others(5): Show TGAGAAACAGAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00733.hp2 others(55): Show HG00140.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 NA18522.hp1 NA18952.hp2 NA18985.hp1 NA19075.hp1 NA19081.hp1 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0008 a0012 a0013 a0014 a0016	a0001c0001 a0001c0003 a0001c0005 others(14): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0002c0004 a0002c0012 a0003c0008 a0003c0017 a0003c0018 a0007c0009 a0008c0019 a0008c0020 a0012c0023 a0013c0021 a0014c0022 a0016c0032	a0001c0001t0002 a0001c0003t0002 a0001c0003t0005 others(29): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0005 a0001c0003t0007 a0001c0003t0010 a0001c0003t0031 a0001c0003t0035 a0001c0003t0037 a0001c0005t0007 a0001c0005t0038 a0001c0006t0003 a0001c0006t0004 a0001c0006t0020 a0001c0007t0003 a0001c0007t0006 a0002c0004t0004 a0002c0004t0011 a0002c0004t0016 a0002c0012t0012 a0002c0012t0013 a0002c0012t0019 a0003c0008t0005 a0003c0008t0029 a0003c0017t0021 a0003c0018t0007 a0007c0009t0004 a0008c0019t0004 a0008c0020t0014 a0012c0023t0007 a0013c0021t0034 a0014c0022t0004 a0016c0032t0001	a0001c0001t0002g0059 a0001c0003t0002g0214 a0001c0003t0002g0215 others(55): Show a0001c0001t0002g0059 a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0005g0178 a0001c0003t0005g0190 a0001c0003t0007g0179 a0001c0003t0007g0187 a0001c0003t0007g0188 a0001c0003t0010g0206 a0001c0003t0031g0218 a0001c0003t0035g0205 a0001c0003t0037g0194 a0001c0005t0007g0181 a0001c0005t0007g0183 a0001c0005t0007g0184 a0001c0005t0007g0191 a0001c0005t0007g0192 a0001c0005t0007g0213 a0001c0005t0038g0189 a0001c0006t0003g0211 a0001c0006t0003g0212 a0001c0006t0004g0177 a0001c0006t0004g0186 a0001c0006t0020g0180 a0001c0007t0003g0185 a0001c0007t0003g0193 a0001c0007t0006g0201 a0001c0007t0006g0202 a0001c0007t0006g0203 a0002c0004t0004g0153 a0002c0004t0004g0154 a0002c0004t0004g0157 a0002c0004t0004g0160 a0002c0004t0004g0162 a0002c0004t0011g0150 a0002c0004t0011g0151 a0002c0004t0011g0152 a0002c0004t0016g0155 a0002c0004t0016g0156 a0002c0012t0012g0159 a0002c0012t0013g0161 a0002c0012t0019g0158 a0003c0008t0005g0198 a0003c0008t0005g0199 a0003c0008t0029g0196 a0003c0017t0021g0197 a0003c0018t0007g0200 a0007c0009t0004g0006 a0007c0009t0004g0007 a0007c0009t0004g0008 a0008c0019t0004g0210 a0008c0020t0014g0209 a0012c0023t0007g0182 a0013c0021t0034g0204 a0014c0022t0004g0009 a0016c0032t0001g0195	58	218	0.2661	-12	c.495 others(27): Show c.495-740_495-729delACAGAAAGAGAA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	2/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3554305	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0014 a0008c0020t0014	a0008c0020t0014g0209 a0008c0020t0014g0209	1	60	0.0167	-12	c.111 others(31): Show c.1112+5003_1112+5014delATTTATTTATTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	6/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3587827	CTGTTTGT others(5): Show CTGTTTGTTTGTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02976.hp1 others(2): Show HG02615.hp1 HG02630.hp1 HG02976.hp1 HG03209.hp2 HG03540.hp2	a0004 a0004	a0004c0011 a0004c0016 a0004c0011 a0004c0016	a0004c0011t0004 a0004c0011t0008 a0004c0016t0013 others(1): Show a0004c0011t0004 a0004c0011t0008 a0004c0016t0013 a0004c0016t0015	a0004c0011t0004g0165 a0004c0011t0008g0168 a0004c0011t0008g0173 others(2): Show a0004c0011t0004g0165 a0004c0011t0008g0168 a0004c0011t0008g0173 a0004c0016t0013g0167 a0004c0016t0015g0166	5	168	0.0298	-12	c.318 others(31): Show c.3184+2972_3184+2983delTGTTTGTTTGTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	18/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3602963	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00639.hp2 others(30): Show HG00438.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01074.hp2 HG01123.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG02300.hp2 HG02698.hp2 HG03130.hp1 HG03490.hp1 HG03710.hp2 HG03942.hp1 NA18612.hp2 NA18747.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18985.hp2 NA18994.hp2 NA19063.hp1 NA19064.hp2 NA19075.hp1 NA19081.hp2 NA19082.hp2	a0001 a0011 a0013 others(2): Show a0001 a0011 a0013 a0015 a0016	a0001c0001 a0001c0002 a0011c0028 others(3): Show a0001c0001 a0001c0002 a0011c0028 a0013c0021 a0015c0026 a0016c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0021 a0011c0028t0001 a0013c0021t0034 a0015c0026t0001 a0016c0032t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(30): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0172 a0001c0001t0002g0065 a0001c0001t0009g0047 a0001c0002t0021g0004 a0011c0028t0001g0073 a0013c0021t0034g0204 a0015c0026t0001g0031 a0016c0032t0001g0195	33	109	0.3028	-12	c.364 others(31): Show c.3644-1121_3644-1110delAAAAAAAAAAAA		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	23/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0096 a0001c0001t0010g0096	1	6	0.1667	-12	c.386 others(31): Show c.3864-3358_3864-3347delTTTTTTTTTTTT		ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77626028	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01516.hp2 HG01517.hp2 others(15): Show HG01070.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG02615.hp2 HG02683.hp1 HG02809.hp2 HG02970.hp2 HG03486.hp2 HG03710.hp1 HG03831.hp2 HG04204.hp1 NA18960.hp1 NA18971.hp1 NA18984.hp1 NA18986.hp1 NA19082.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0012 others(1): Show a0001c0001 a0001c0005 a0001c0012 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0005t0005 a0001c0012t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0160 a0001c0001t0002g0090 a0001c0001t0002g0111 others(15): Show a0001c0001t0001g0160 a0001c0001t0002g0090 a0001c0001t0002g0111 a0001c0001t0002g0173 a0001c0001t0002g0211 a0001c0001t0004g0218 a0001c0005t0005g0075 a0001c0005t0005g0078 a0001c0005t0005g0080 a0001c0012t0002g0212 a0002c0002t0001g0007 a0002c0002t0001g0028 a0002c0002t0001g0034 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0107 a0002c0002t0002g0048 a0002c0002t0002g0051	18	39	0.4615	-12	c.513 others(31): Show c.5135-5508_5135-5497delATATATATATAT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77716110	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	78	0.0128	-12	c.133 others(29): Show c.133+1009_133+1020delAAAAAAAAAAAA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77734208	AATACATA others(5): Show AATACATACATAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp1 HG03209.hp1 others(1): Show HG02559.hp2 HG02895.hp1 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0068 a0001c0001t0007g0066 a0001c0001t0007g0067 others(1): Show a0001c0001t0005g0068 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0069	4	92	0.0435	-12	c.21- others(29): Show c.21-16977_21-16966delGTATGTATGTAT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77735598	CTAAATAA others(5): Show CTAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0108 a0001c0011t0001g0108	1	103	0.0097	-12	c.21- others(29): Show c.21-18367_21-18356delTTTATTTATTTA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77740053	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02451.hp2 HG01167.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0148 a0001c0001t0003g0149	2	167	0.0120	-12	c.21- others(29): Show c.21-22822_21-22811delTTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77775715	CTTTATTT others(5): Show CTTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02647.hp1 others(1): Show HG02055.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0074 others(1): Show a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0213	4	71	0.0563	-12	c.20+ others(29): Show c.20+10255_20+10266delTAAATAAATAAA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77777191	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02922.hp1 others(2): Show HG02258.hp1 HG02280.hp2 HG02922.hp1 HG03195.hp2 HG03486.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0002 a0001c0001t0003 a0005c0008t0003 a0001c0001t0002 a0001c0001t0003 a0005c0008t0003	a0001c0001t0002g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 others(2): Show a0001c0001t0002g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0005c0008t0003g0203	5	59	0.0847	-12	c.20+ others(27): Show c.20+8779_20+8790delTTTTTTTTTTTT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34						chrX	TogoVar
ATRX_chrX_77499880_77791216	77786905	TACACACA others(5): Show TACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02280.hp1 others(6): Show HG01109.hp1 HG02257.hp1 HG02280.hp1 HG02602.hp1 HG02723.hp2 HG02965.hp1 HG03239.hp2 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0084 a0001c0001t0003g0083 a0001c0001t0003g0085 others(6): Show a0001c0001t0001g0084 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0210 a0001c0001t0010g0082 a0001c0001t0010g0087	9	49	0.1837	-12	c.-91 others(21): Show c.-916_-905delGTGTGTGTGTGT		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					690		chrX	TogoVar
ATRX_chrX_77499880_77791216	77790932	GTGTATAT others(5): Show GTGTATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01099.hp1 HG01975.hp2 others(20): Show HG00558.hp1 HG01099.hp1 HG01975.hp2 HG02015.hp1 HG02165.hp1 HG02257.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp1 HG03540.hp2 HG04204.hp1 NA18906.hp2 NA18948.hp1 NA18962.hp1 NA18965.hp1 NA18970.hp1 NA18973.hp1 NA19001.hp2 NA19003.hp1 NA19007.hp1 NA19074.hp1 NA19080.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0009t0006 a0002c0002t0001	a0001c0001t0001g0197 a0001c0001t0002g0140 a0001c0001t0002g0157 others(20): Show a0001c0001t0001g0197 a0001c0001t0002g0140 a0001c0001t0002g0157 a0001c0001t0002g0177 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0003g0182 a0001c0001t0003g0196 a0001c0001t0004g0183 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0218 a0001c0001t0006g0178 a0001c0001t0013g0191 a0001c0009t0006g0195 a0002c0002t0001g0022 a0002c0002t0001g0040	23	118	0.1949	-12	c.-49 others(23): Show c.-4943_-4932delTATATATATACA		ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding					4717		chrX	TogoVar
ATR_chr3_142444235_142583733	142486959	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01256.hp1 HG01258.hp2 HG01070.hp1 HG01256.hp1 HG01258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186	3	133	0.0226	-12	c.607 others(31): Show c.6079-1689_6079-1678delTTTTTTTTTTTT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	35/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18965.hp1 HG03669.hp2 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0001 a0002c0002t0001 a0002c0007t0001	a0002c0002t0001g0209 a0002c0007t0001g0233 a0002c0002t0001g0209 a0002c0007t0001g0233	2	23	0.0870	-12	c.589 others(27): Show c.5898+71_5898+82delTATATATATATA		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142552297	CAAAGGAA others(5): Show CAAAGGAATATAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(213): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18998.hp2 NA18999.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0004 a0001c0006 others(12): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0002c0002 a0002c0018 a0003c0003 a0004c0009 a0005c0011 a0006c0012 a0008c0015 a0009c0014 a0010c0013 a0011c0019 a0012c0021	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(13): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0008t0001 a0002c0002t0001 a0002c0018t0001 a0003c0003t0001 a0004c0009t0001 a0005c0011t0001 a0006c0012t0001 a0008c0015t0001 a0009c0014t0001 a0010c0013t0001 a0011c0019t0001 a0012c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(210): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0004t0001g0027 a0001c0004t0001g0145 a0001c0004t0001g0146 a0001c0004t0001g0147 a0001c0004t0001g0151 a0001c0004t0001g0152 a0001c0004t0001g0153 a0001c0004t0001g0154 a0001c0004t0001g0156 a0001c0004t0001g0159 a0001c0004t0001g0160 a0001c0004t0001g0201 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0310 a0001c0004t0001g0314 a0001c0004t0001g0315 a0001c0004t0001g0316 a0001c0004t0001g0317 a0001c0004t0002g0005 a0001c0004t0002g0006 a0001c0006t0001g0008 a0001c0006t0001g0009 a0001c0006t0001g0010 a0001c0006t0001g0011 a0001c0006t0001g0012 a0001c0006t0001g0013 a0001c0006t0001g0014 a0001c0006t0001g0015 a0001c0006t0001g0016 a0001c0006t0001g0017 a0001c0006t0001g0018 a0001c0006t0001g0019 a0001c0006t0001g0020 a0001c0006t0001g0021 a0001c0006t0001g0022 a0001c0006t0001g0023 a0001c0008t0001g0195 a0001c0008t0001g0196 a0001c0008t0001g0197 a0001c0008t0001g0198 a0001c0008t0001g0199 a0001c0008t0001g0200 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0018t0001g0143 a0003c0003t0001g0003 a0003c0003t0001g0155 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0165 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0004c0009t0001g0148 a0004c0009t0001g0149 a0004c0009t0001g0150 a0005c0011t0001g0218 a0005c0011t0001g0225 a0006c0012t0001g0311 a0008c0015t0001g0309 a0009c0014t0001g0033 a0010c0013t0001g0144 a0011c0019t0001g0070 a0012c0021t0001g0318	216	320	0.6750	-12	c.280 others(29): Show c.2805+918_2805+929delTTATATTCCTTT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	13/46						chr3	TogoVar
ATR_chr3_142444235_142583733	142571465	CAATAAAT others(5): Show CAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01074.hp1 others(20): Show HG00642.hp2 HG00738.hp1 HG01074.hp1 HG01123.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 NA19043.hp1 NA20129.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0012c0021	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0012c0021t0001	a0001c0001t0001g0089 a0001c0004t0001g0154 a0001c0004t0001g0314 others(20): Show a0001c0001t0001g0089 a0001c0004t0001g0154 a0001c0004t0001g0314 a0001c0004t0001g0315 a0001c0004t0001g0316 a0001c0004t0001g0317 a0001c0006t0001g0008 a0001c0006t0001g0009 a0001c0006t0001g0010 a0001c0006t0001g0011 a0001c0006t0001g0012 a0001c0006t0001g0013 a0001c0006t0001g0014 a0001c0006t0001g0015 a0001c0006t0001g0016 a0001c0006t0001g0017 a0001c0006t0001g0018 a0001c0006t0001g0019 a0001c0006t0001g0020 a0001c0006t0001g0021 a0001c0006t0001g0022 a0001c0006t0001g0023 a0012c0021t0001g0318	23	68	0.3382	-12	c.60- others(27): Show c.60-3323_60-3312delTATTTATTTATT		ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	1/46						chr3	TogoVar
ATXN10_chr22_45666834_45850307	45667946	GATATATA others(5): Show GATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	34	0.0294	-12	c.-41 others(23): Show c.-4117_-4106delATATATATATAT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding					3887		chr22	TogoVar
ATXN10_chr22_45666834_45850307	45727327	ATCTATAT others(5): Show ATCTATATCTATC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	314	0.0032	-12	c.729 others(29): Show c.729-2096_729-2085delCTATATCTATCT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45740679	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG02886.hp2 others(5): Show HG01891.hp1 HG02717.hp2 HG02886.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp2 NA19074.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 others(5): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0137 a0001c0001t0001g0235	8	54	0.1481	-12	c.117 others(29): Show c.1173+171_1173+182delCACACACACACA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45740709	CACACACA others(5): Show CACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0087	1	311	0.0032	-12	c.117 others(29): Show c.1173+173_1173+184delCACACACACATA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45740711	CACACACA others(5): Show CACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02615.hp2 HG01884.hp2 HG02258.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0018 a0001c0001t0006 a0001c0001t0018	a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0018g0118 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0018g0118	3	314	0.0096	-12	c.117 others(29): Show c.1173+175_1173+186delCACACACATATA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751739	GGAAAAAA others(5): Show GGAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02572.hp2 others(5): Show HG01243.hp1 HG02258.hp1 HG02572.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG03098.hp2 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 others(5): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0278 a0003c0002t0001g0064	8	210	0.0381	-12	c.117 others(33): Show c.1173+11202_1173+11213delGAAAAAAAAAAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11						chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751754	ATAAAAAA others(5): Show ATAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02055.hp2 HG02109.hp2 others(21): Show HG01099.hp2 HG02055.hp2 HG02109.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18956.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 others(21): Show a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0141 a0001c0001t0001g0220 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0315 a0001c0001t0004g0244 a0001c0001t0005g0292 a0001c0001t0008g0299 a0001c0001t0008g0301 a0001c0001t0012g0081 a0001c0001t0014g0077	24	314	0.0764	-12	c.117 others(33): Show c.1173+11217_1173+11228delTAAAAAAAAAAT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11						chr22	TogoVar
ATXN10_chr22_45666834_45850307	45751760	AAAAAATA others(5): Show AAAAAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp1 HG02280.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0079 a0001c0001t0001g0091	2	313	0.0064	-12	c.117 others(33): Show c.1173+11225_1173+11236delAAATAATAATAA		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45753377	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp1 NA19240.hp2 HG02976.hp1 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285	3	7	0.4286	-12	c.117 others(33): Show c.1173+12876_1173+12887delTTTTTTTTTTTT		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45827129	CCACACAC others(5): Show CCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01106.hp2 others(20): Show HG00099.hp2 HG00735.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01433.hp1 HG01884.hp1 HG02055.hp2 HG02109.hp2 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0016	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 others(20): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0273 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0177 a0001c0001t0003g0307 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0011g0136 a0001c0001t0016g0300	23	66	0.3485	-12	c.123 others(33): Show c.1238-15830_1238-15819delACACACACACAC		ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16327633	GTGCTGCT others(5): Show GTGCTGCTGCTGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00438.hp1 HG00597.hp2 others(23): Show HG00408.hp1 HG00438.hp1 HG00597.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02735.hp1 HG03492.hp1 HG03834.hp2 HG06807.hp2 NA18747.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18973.hp1 NA18993.hp1 NA18993.hp2 NA19009.hp2 NA19062.hp1	a0004 a0004	a0004c0005 a0004c0006 a0004c0014 others(4): Show a0004c0005 a0004c0006 a0004c0014 a0004c0023 a0004c0026 a0004c0027 a0004c0037	a0004c0005t0002 a0004c0005t0008 a0004c0005t0026 others(9): Show a0004c0005t0002 a0004c0005t0008 a0004c0005t0026 a0004c0005t0032 a0004c0006t0002 a0004c0006t0003 a0004c0006t0009 a0004c0014t0001 a0004c0023t0002 a0004c0026t0001 a0004c0027t0001 a0004c0037t0001	a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 others(23): Show a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 a0004c0005t0002g0122 a0004c0005t0002g0160 a0004c0005t0002g0167 a0004c0005t0002g0177 a0004c0005t0008g0068 a0004c0005t0026g0088 a0004c0005t0032g0099 a0004c0006t0002g0035 a0004c0006t0002g0040 a0004c0006t0002g0097 a0004c0006t0002g0124 a0004c0006t0002g0162 a0004c0006t0002g0169 a0004c0006t0002g0172 a0004c0006t0003g0066 a0004c0006t0009g0110 a0004c0014t0001g0152 a0004c0014t0001g0157 a0004c0014t0001g0176 a0004c0023t0002g0101 a0004c0026t0001g0156 a0004c0027t0001g0064 a0004c0037t0001g0016	26	67	0.3881	-12	c.666 others(19): Show c.666_677delGCAGCAGCAGCA	p.Gln others(13): Show p.Gln222_Gln225del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1569/10557	666/2448	222/815			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327678	ATGCTGAT others(5): Show ATGCTGATGCTGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0038 a0001c0042t0038	a0001c0042t0038g0087 a0001c0042t0038g0087	1	141	0.0071	-12	c.621 others(19): Show c.621_632delGCAGCATCAGCA	p.Gln others(13): Show p.Gln207_Gln210del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1524/10557	621/2448	207/815			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16372930	TAAATAAA others(5): Show TAAATAAACAAAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG06807.hp2 HG03130.hp2 HG06807.hp2	a0002 a0004 a0002 a0004	a0002c0039 a0004c0037 a0002c0039 a0004c0037	a0002c0039t0012 a0004c0037t0001 a0002c0039t0012 a0004c0037t0001	a0002c0039t0012g0030 a0004c0037t0001g0016 a0002c0039t0012g0030 a0004c0037t0001g0016	2	180	0.0111	-12	c.-16 others(33): Show c.-160-44472_-160-44461delGTTTGTTTATTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16372934	TAAACAAA others(5): Show TAAACAAACAAAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(93): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18960.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19062.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0008 a0001c0010 others(27): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0019 a0001c0020 a0001c0034 a0001c0041 a0001c0042 a0002c0003 a0002c0004 a0002c0011 a0002c0018 a0002c0031 a0003c0002 a0003c0009 a0003c0015 a0003c0021 a0003c0022 a0003c0035 a0003c0036 a0004c0006 a0004c0014 a0004c0027 a0005c0007 a0005c0017 a0005c0028 a0005c0029 a0005c0038 a0006c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0008t0010 a0001c0008t0011 a0001c0010t0004 a0001c0010t0014 a0001c0010t0023 a0001c0010t0024 a0001c0012t0006 a0001c0012t0048 a0001c0019t0001 a0001c0020t0015 a0001c0034t0004 a0001c0041t0036 a0001c0042t0038 a0002c0003t0001 a0002c0003t0002 a0002c0003t0013 a0002c0003t0021 a0002c0003t0022 a0002c0003t0033 a0002c0004t0002 a0002c0004t0035 a0002c0011t0001 a0002c0011t0007 a0002c0011t0042 a0002c0018t0002 a0002c0018t0045 a0002c0031t0010 a0003c0002t0008 a0003c0002t0009 a0003c0002t0041 a0003c0002t0043 a0003c0009t0001 a0003c0009t0017 a0003c0015t0004 a0003c0015t0025 a0003c0021t0004 a0003c0021t0014 a0003c0022t0001 a0003c0035t0001 a0003c0036t0004 a0004c0006t0002 a0004c0006t0003 a0004c0006t0009 a0004c0014t0001 a0004c0027t0001 a0005c0007t0001 a0005c0007t0005 a0005c0007t0019 a0005c0017t0001 a0005c0028t0003 a0005c0029t0034 a0005c0038t0018 a0006c0024t0002	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0083 others(93): Show a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0181 a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0011g0131 a0001c0001t0020g0002 a0001c0001t0029g0145 a0001c0001t0030g0021 a0001c0008t0010g0038 a0001c0008t0011g0053 a0001c0010t0004g0050 a0001c0010t0004g0069 a0001c0010t0004g0086 a0001c0010t0004g0144 a0001c0010t0004g0161 a0001c0010t0014g0082 a0001c0010t0023g0023 a0001c0010t0024g0048 a0001c0012t0006g0008 a0001c0012t0006g0014 a0001c0012t0006g0052 a0001c0012t0006g0112 a0001c0012t0006g0113 a0001c0012t0048g0031 a0001c0019t0001g0024 a0001c0019t0001g0107 a0001c0020t0015g0017 a0001c0020t0015g0125 a0001c0034t0004g0065 a0001c0041t0036g0095 a0001c0042t0038g0087 a0002c0003t0001g0039 a0002c0003t0001g0042 a0002c0003t0001g0049 a0002c0003t0001g0109 a0002c0003t0002g0120 a0002c0003t0013g0033 a0002c0003t0021g0003 a0002c0003t0022g0119 a0002c0003t0033g0165 a0002c0004t0002g0126 a0002c0004t0035g0018 a0002c0011t0001g0034 a0002c0011t0007g0155 a0002c0011t0042g0026 a0002c0018t0002g0004 a0002c0018t0045g0147 a0002c0031t0010g0173 a0003c0002t0008g0063 a0003c0002t0008g0081 a0003c0002t0008g0116 a0003c0002t0008g0140 a0003c0002t0009g0094 a0003c0002t0041g0079 a0003c0002t0043g0175 a0003c0009t0001g0046 a0003c0009t0001g0073 a0003c0009t0001g0080 a0003c0009t0001g0084 a0003c0009t0001g0093 a0003c0009t0001g0174 a0003c0009t0001g0182 a0003c0009t0017g0121 a0003c0009t0017g0179 a0003c0015t0004g0044 a0003c0015t0004g0171 a0003c0015t0025g0142 a0003c0021t0004g0032 a0003c0021t0014g0102 a0003c0022t0001g0104 a0003c0022t0001g0146 a0003c0035t0001g0115 a0003c0036t0004g0067 a0004c0006t0002g0169 a0004c0006t0002g0172 a0004c0006t0003g0066 a0004c0006t0009g0110 a0004c0014t0001g0152 a0004c0014t0001g0176 a0004c0027t0001g0064 a0005c0007t0001g0098 a0005c0007t0005g0092 a0005c0007t0019g0001 a0005c0017t0001g0143 a0005c0028t0003g0149 a0005c0029t0034g0139 a0005c0038t0018g0054 a0006c0024t0002g0170	96	126	0.7619	-12	c.-16 others(33): Show c.-160-44476_-160-44465delGTTTGTTTGTTT		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7						chr6	TogoVar

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