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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP9B_chr18_79064394_79383283	79356900	T T	TCTGTGTG others(7): Show TCTGTGTGAGGGACC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18970.hp2 NA18945.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0048 a0001c0001t0001g0049	2	223	0.0090	14	c.290 others(33): Show c.2904-2443_2904-2442insACCCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357460	T T	TCCGTGTG others(7): Show TCCGTGTGAGGGACC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0215 a0002c0002t0002g0215	1	289	0.0035	14	c.290 others(33): Show c.2904-1893_2904-1892insCGTGTGAGGGACCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357460	T T	TCTGTGTG others(7): Show TCTGTGTGAGGGACC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	289	0.0035	14	c.290 others(33): Show c.2904-1883_2904-1882insACCCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357538	T T	TCTGTGTG others(7): Show TCTGTGTGAGGGACC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0171 a0005c0016t0001g0171	1	295	0.0034	14	c.290 others(33): Show c.2904-1805_2904-1804insACCCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357616	T T	TCCGTGTG others(7): Show TCCGTGTGAGGGACC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01981.hp2 HG02056.hp2 others(19): Show HG01884.hp1 HG01981.hp2 HG02056.hp2 HG02074.hp1 HG02572.hp2 HG02976.hp1 HG03041.hp1 HG03209.hp2 HG03516.hp1 HG03834.hp1 HG03927.hp1 NA18946.hp1 NA18950.hp2 NA18962.hp2 NA18971.hp1 NA18979.hp2 NA18994.hp1 NA19002.hp2 NA19056.hp2 NA19079.hp1 NA19086.hp1 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0015	a0001c0003 a0001c0004 a0001c0006 others(5): Show a0001c0003 a0001c0004 a0001c0006 a0001c0037 a0002c0002 a0005c0016 a0006c0012 a0015c0028	a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 others(7): Show a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0003 a0001c0006t0003 a0001c0037t0003 a0002c0002t0003 a0005c0016t0001 a0006c0012t0003 a0015c0028t0012	a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 others(19): Show a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0129 a0001c0003t0003g0144 a0001c0003t0003g0151 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0003g0034 a0001c0004t0003g0073 a0001c0004t0003g0103 a0001c0004t0003g0110 a0001c0004t0003g0113 a0001c0006t0003g0282 a0001c0037t0003g0104 a0002c0002t0003g0192 a0005c0016t0001g0171 a0006c0012t0003g0221 a0015c0028t0012g0143	22	296	0.0743	14	c.290 others(33): Show c.2904-1737_2904-1736insCGTGTGAGGGACCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357694	T T	TCCGTGTG others(7): Show TCCGTGTGAGGGACC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	296	0.0034	14	c.290 others(33): Show c.2904-1659_2904-1658insCGTGTGAGGGACCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357896	T T	TCTGTGTG others(7): Show TCTGTGTGAGGGACC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02155.hp2 others(7): Show HG02055.hp1 HG02145.hp2 HG02155.hp2 HG02615.hp2 HG02630.hp1 HG02886.hp1 HG03486.hp2 HG03579.hp2 NA18960.hp2 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0002c0005t0004 a0001c0001t0001 a0002c0005t0001 a0002c0005t0004	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0090 a0002c0005t0001g0184 a0002c0005t0001g0187 a0002c0005t0001g0188 a0002c0005t0001g0191 a0002c0005t0001g0244 a0002c0005t0004g0173	10	296	0.0338	14	c.290 others(33): Show c.2904-1447_2904-1446insACCCTGTGTGAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358488	T T	TCCGTGTG others(7): Show TCCGTGTGAGGGACC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02257.hp1 HG02723.hp1 HG03130.hp2	a0002 a0005 a0002 a0005	a0002c0032 a0005c0009 a0002c0032 a0005c0009	a0002c0032t0005 a0005c0009t0005 a0002c0032t0005 a0005c0009t0005	a0002c0032t0005g0189 a0005c0009t0005g0165 a0005c0009t0005g0166 others(3): Show a0002c0032t0005g0189 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170	6	296	0.0203	14	c.290 others(31): Show c.2904-865_2904-864insCGTGTGAGGGACCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358724	C C	CGTGTGAG others(7): Show CGTGTGAGGGACCCT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	295	0.0034	14	c.290 others(31): Show c.2904-619_2904-606dupCCCTGTGTGAGGGA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376172	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 NA19030.hp1 HG02717.hp2 HG03195.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0014 a0003c0007 a0001c0014 a0003c0007	a0001c0014t0006 a0003c0007t0004 a0001c0014t0006 a0003c0007t0004	a0001c0014t0006g0017 a0001c0014t0006g0097 a0003c0007t0004g0289 a0001c0014t0006g0017 a0001c0014t0006g0097 a0003c0007t0004g0289	3	117	0.0256	14	c.330 others(31): Show c.3307+776_3307+789dupCACACACACACACA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(7): Show CACACACACAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03139.hp2 HG03209.hp2 others(4): Show HG01261.hp2 HG03139.hp2 HG03209.hp2 HG03654.hp1 NA18944.hp1 NA18951.hp1 NA19009.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0010 a0005c0016 a0001c0001 a0001c0010 a0005c0016	a0001c0001t0001 a0001c0010t0001 a0005c0016t0001 a0001c0001t0001 a0001c0010t0001 a0005c0016t0001	a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0033 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0063 a0001c0001t0001g0088 a0001c0010t0001g0297 a0005c0016t0001g0171	7	199	0.0352	14	c.330 others(31): Show c.3307+789_3307+790insCACACACAAAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(7): Show CACACACACACAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp1 HG02132.hp2 others(8): Show HG01081.hp1 HG01123.hp1 HG02132.hp2 HG02155.hp2 NA18747.hp1 NA18960.hp2 NA18994.hp2 NA19001.hp1 NA19077.hp2 NA19079.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0010g0005	11	203	0.0542	14	c.330 others(31): Show c.3307+789_3307+790insCACACACACAAAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79376214	C C	CACACACA others(7): Show CACACACACACACAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19002.hp1 NA18945.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0049 a0001c0001t0001g0075	2	194	0.0103	14	c.330 others(31): Show c.3307+789_3307+790insCACACACACACAAA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPAF2_chr17_18013021_18044168	18019147	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01993.hp1 NA20129.hp2 HG01192.hp2 HG01993.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0002g0219 a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0002g0219	3	28	0.1071	14	c.733 others(29): Show c.733-475_733-462dupTGTGTGTGTGTGTG	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7			chr17	TogoVar
ATRIP_chr3_48441737_48472645	48449413	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02896.hp1 HG03041.hp1 others(1): Show HG01243.hp2 HG02896.hp1 HG03041.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0017 a0001c0003t0007g0083 a0001c0003t0007g0017 a0001c0003t0007g0083	4	118	0.0339	14	c.248 others(29): Show c.248-616_248-603dupAAAAAAAAAAAAAA	ATRIP	ENSG00000164053.22	transcript	ENST00000320211.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATRNL1_chr10_115088365_115953999	115214041	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG06807.hp2 HG01515.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0080 a0001c0001t0008g0081 a0001c0001t0002g0080 a0001c0001t0008g0081	2	11	0.1818	14	c.134 others(33): Show c.1349-1642_1349-1629dupCACACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223913	G G	GTGTGTAT others(7): Show GTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02809.hp1 HG03486.hp1 others(1): Show HG01109.hp1 HG02809.hp1 HG03486.hp1 NA19240.hp2	a0002 a0002	a0002c0004 a0002c0008 a0002c0004 a0002c0008	a0002c0004t0002 a0002c0004t0006 a0002c0008t0044 a0002c0004t0002 a0002c0004t0006 a0002c0008t0044	a0002c0004t0002g0011 a0002c0004t0002g0012 a0002c0004t0006g0087 others(1): Show a0002c0004t0002g0011 a0002c0004t0002g0012 a0002c0004t0006g0087 a0002c0008t0044g0061	4	88	0.0455	14	c.153 others(33): Show c.1532+8034_1532+8035insGTGTATATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115223929	A A	ATATATTT others(7): Show ATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	52	0.0192	14	c.153 others(33): Show c.1532+8050_1532+8051insATATTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115230913	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0015 a0001c0003t0031g0015	1	109	0.0092	14	c.153 others(35): Show c.1533-10649_1533-10648insGAGAAAGAGAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03041.hp1 NA18957.hp1 others(1): Show HG02280.hp1 HG03041.hp1 NA18957.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0001 a0001c0003t0003 a0002c0004t0006 others(1): Show a0001c0002t0001 a0001c0003t0003 a0002c0004t0006 a0002c0004t0007	a0001c0002t0001g0043 a0001c0003t0003g0058 a0002c0004t0006g0087 others(1): Show a0001c0002t0001g0043 a0001c0003t0003g0058 a0002c0004t0006g0087 a0002c0004t0007g0010	4	37	0.1081	14	c.317 others(35): Show c.3176-13223_3176-13210dupTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389542	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0011 a0002c0008t0011	a0002c0008t0011g0072 a0002c0008t0011g0072	1	110	0.0091	14	c.317 others(33): Show c.3176-5104_3176-5103insGTATATATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389544	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	125	0.0080	14	c.317 others(33): Show c.3176-5102_3176-5101insGTATATATATATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115403257	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0034 a0001c0015t0034	a0001c0015t0034g0096 a0001c0015t0034g0096	1	36	0.0278	14	c.326 others(33): Show c.3269+8511_3269+8524dupTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442270	G G	GCTCTCTC others(7): Show GCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03041.hp2 HG02896.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0042 a0001c0001t0017 a0001c0001t0042	a0001c0001t0017g0028 a0001c0001t0042g0099 a0001c0001t0017g0028 a0001c0001t0042g0099	2	77	0.0260	14	c.332 others(35): Show c.3322+15989_3322+16002dupCTCTCTCTCTCTCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0051 a0001c0002t0005g0051	1	85	0.0118	14	c.332 others(35): Show c.3322+16002_3322+16003insCTCTCTCTCTCTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115442303	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0040 a0001c0003t0004g0040	1	85	0.0118	14	c.332 others(35): Show c.3322+16002_3322+16003insCTCTCTCTCTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115480207	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0033 a0001c0006t0033	a0001c0006t0033g0035 a0001c0006t0033g0035	1	52	0.0192	14	c.365 others(35): Show c.3654+10894_3654+10907dupCACACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115559414	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0028 a0001c0001t0017g0028	1	105	0.0095	14	c.379 others(33): Show c.3795+9895_3795+9908dupTGTGTGTGTGTGTG	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115561678	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02559.hp2 HG01258.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0010 a0001c0006t0009 a0001c0001t0010 a0001c0006t0009	a0001c0001t0010g0017 a0001c0006t0009g0085 a0001c0001t0010g0017 a0001c0006t0009g0085	2	126	0.0159	14	c.379 others(35): Show c.3795+12153_3795+12154insTGGGTGTGTGTGTG	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115561704	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp2 NA19240.hp1 HG03139.hp2 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0015 a0001c0001t0043 a0001c0005t0021 a0001c0001t0015 a0001c0001t0043 a0001c0005t0021	a0001c0001t0015g0062 a0001c0001t0043g0098 a0001c0005t0021g0007 a0001c0001t0015g0062 a0001c0001t0043g0098 a0001c0005t0021g0007	3	17	0.1765	14	c.379 others(35): Show c.3795+12175_3795+12188dupGTGTGTGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115577610	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0057 a0001c0009t0005g0057	1	13	0.0769	14	c.379 others(35): Show c.3795+28104_3795+28117dupGTGTGTGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115621254	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	93	0.0108	14	c.379 others(35): Show c.3795+71728_3795+71741dupTATATATATATATA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115621276	T T	TATATATA others(7): Show TATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18906.hp1 HG03041.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0031 a0001c0003t0003 a0001c0003t0031	a0001c0003t0003g0058 a0001c0003t0031g0015 a0001c0003t0003g0058 a0001c0003t0031g0015	2	81	0.0247	14	c.379 others(35): Show c.3795+71741_3795+71742insTATATATAGAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115621276	T T	TATATATA others(7): Show TATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG03139.hp2 HG02145.hp2 HG02559.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0013 a0001c0005t0021 a0001c0001t0002 a0001c0001t0013 a0001c0005t0021	a0001c0001t0002g0014 a0001c0001t0013g0018 a0001c0005t0021g0007 a0001c0001t0002g0014 a0001c0001t0013g0018 a0001c0005t0021g0007	3	82	0.0366	14	c.379 others(35): Show c.3795+71741_3795+71742insTATATATATAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115646036	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01943.hp2 HG02055.hp2 others(5): Show HG01515.hp2 HG01943.hp2 HG02055.hp2 HG02132.hp1 HG02135.hp1 HG02523.hp2 HG03834.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0104 others(5): Show a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0104 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0003g0073 a0001c0001t0008g0084	8	23	0.3478	14	c.379 others(35): Show c.3796-81192_3796-81179dupCACACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115729527	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0044 a0002c0008t0044	a0002c0008t0044g0061 a0002c0008t0044g0061	1	126	0.0079	14	c.390 others(33): Show c.3903+2181_3903+2182insGTGTATGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738126	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	57	0.0175	14	c.390 others(35): Show c.3903+10788_3903+10801dupTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738154	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02055.hp1 HG02970.hp2 others(4): Show HG01258.hp2 HG02055.hp1 HG02970.hp2 HG03471.hp2 HG03540.hp1 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0091 a0001c0001t0002g0016 a0001c0001t0008g0081 others(4): Show a0001c0001t0001g0091 a0001c0001t0002g0016 a0001c0001t0008g0081 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0002t0001g0046 a0001c0002t0006g0060	7	96	0.0729	14	c.390 others(35): Show c.3903+10801_3903+10802insTTTTTTTTTTTCTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115772593	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19070.hp2 HG02258.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0037 a0001c0001t0001 a0001c0003t0037	a0001c0001t0001g0069 a0001c0003t0037g0075 a0001c0001t0001g0069 a0001c0003t0037g0075	2	91	0.0220	14	c.390 others(35): Show c.3903+45241_3903+45242insGTGTGTGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115772597	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02300.hp2 HG02976.hp1 HG01109.hp2 HG02300.hp2 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0004 a0001c0003t0014 a0001c0005t0018 a0001c0002t0004 a0001c0003t0014 a0001c0005t0018	a0001c0002t0004g0056 a0001c0003t0014g0092 a0001c0005t0018g0003 a0001c0002t0004g0056 a0001c0003t0014g0092 a0001c0005t0018g0003	3	39	0.0769	14	c.390 others(35): Show c.3903+45264_3903+45277dupGTGTGTGTGTGTGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG01123.hp2 others(1): Show HG00741.hp1 HG01071.hp2 HG01123.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0014 a0001c0001 a0001c0002 a0002c0014	a0001c0001t0011 a0001c0002t0005 a0002c0014t0009 a0001c0001t0011 a0001c0002t0005 a0002c0014t0009	a0001c0001t0011g0114 a0001c0002t0005g0044 a0001c0002t0005g0051 others(1): Show a0001c0001t0011g0114 a0001c0002t0005g0044 a0001c0002t0005g0051 a0002c0014t0009g0071	4	10	0.4000	14	c.401 others(33): Show c.4018+8446_4018+8459dupAAAAAAAAAAAAAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115868822	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02055.hp1 HG02622.hp1 others(4): Show HG01952.hp1 HG02055.hp1 HG02622.hp1 HG03471.hp2 NA18994.hp1 NA18995.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0022 a0001c0002t0004	a0001c0001t0001g0063 a0001c0001t0010g0033 a0001c0001t0010g0034 others(4): Show a0001c0001t0001g0063 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0022g0032 a0001c0002t0004g0052 a0001c0002t0004g0054 a0001c0002t0004g0065	7	17	0.4118	14	c.401 others(35): Show c.4018+20843_4018+20856dupTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3492168	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0134 a0001c0002t0004g0134	1	5	0.2000	14	c.410 others(33): Show c.410+20674_410+20687dupGTGTGTGTGTGTGT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3519006	T T	TATAAAAA others(7): Show TATAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02055.hp1 others(1): Show HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02486.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0001c0006 a0008c0019 others(1): Show a0001c0003 a0001c0006 a0008c0019 a0008c0020	a0001c0003t0037 a0001c0006t0004 a0008c0019t0004 others(1): Show a0001c0003t0037 a0001c0006t0004 a0008c0019t0004 a0008c0020t0014	a0001c0003t0037g0194 a0001c0006t0004g0177 a0008c0019t0004g0210 others(1): Show a0001c0003t0037g0194 a0001c0006t0004g0177 a0008c0019t0004g0210 a0008c0020t0014g0209	4	165	0.0242	14	c.411 others(33): Show c.411-16246_411-16245insTAAAAAAAAAAAAA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3554990	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0212 a0001c0006t0003g0212	1	12	0.0833	14	c.111 others(33): Show c.1113-4386_1113-4373dupTTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 NA18967.hp1 others(1): Show HG02647.hp1 HG02723.hp1 NA18967.hp1 NA18992.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0072 a0001c0001t0005g0074 a0002c0002t0002g0037 others(1): Show a0001c0001t0005g0072 a0001c0001t0005g0074 a0002c0002t0002g0037 a0002c0002t0002g0207	4	14	0.2857	14	c.621 others(33): Show c.6217+4237_6217+4250dupTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG04184.hp1 HG00597.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0100 a0001c0001t0002g0215 a0001c0001t0001g0100 a0001c0001t0002g0215	2	18	0.1111	14	c.455 others(31): Show c.4557+883_4557+896dupTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671167	A A	AAAATATA others(7): Show AAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp1 NA18986.hp1 others(1): Show HG02559.hp2 HG02965.hp1 NA18986.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002	a0001c0001t0003g0086 a0001c0001t0005g0068 a0002c0002t0001g0034 others(1): Show a0001c0001t0003g0086 a0001c0001t0005g0068 a0002c0002t0001g0034 a0002c0002t0002g0058	4	66	0.0606	14	c.380 others(33): Show c.3809+5058_3809+5059insATATATATATATTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77716110	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	78	0.0128	14	c.133 others(31): Show c.133+1007_133+1020dupAAAAAAAAAAAAAA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77790934	G G	GTATATAT others(7): Show GTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG03654.hp1 NA19012.hp1 others(2): Show HG01433.hp1 HG03654.hp1 NA19012.hp1 NA19079.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0098 a0001c0001t0002g0091 a0001c0001t0002g0099 others(2): Show a0001c0001t0001g0098 a0001c0001t0002g0091 a0001c0001t0002g0099 a0001c0001t0002g0129 a0001c0001t0002g0165	5	128	0.0391	14	c.-49 others(25): Show c.-4934_-4933insTATATATATATATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4719		chrX	TogoVar

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