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
TBC1D26_chr17_15727283_15749782	15730678	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG04204.hp2 NA18906.hp1 others(1): Show HG01884.hp2 HG04204.hp2 NA18906.hp1 NA19000.hp2	a0001 a0003 a0019 a0001 a0003 a0019	a0001c0017 a0003c0003 a0019c0024 a0001c0017 a0003c0003 a0019c0024	a0001c0017t0001 a0003c0003t0001 a0019c0024t0001 a0001c0017t0001 a0003c0003t0001 a0019c0024t0001	a0001c0017t0001g0001 a0003c0003t0001g0003 a0003c0003t0001g0021 others(1): Show a0001c0017t0001g0001 a0003c0003t0001g0003 a0003c0003t0001g0021 a0019c0024t0001g0003	4	464	0.0086	16	c.-18 others(27): Show c.-1849_-1848insGTGTGTGTGTGTGTGT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		1604		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15730704	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02683.hp2 NA19012.hp1 HG02135.hp1 HG02683.hp2 NA19012.hp1	a0003 a0013 a0003 a0013	a0003c0003 a0013c0023 a0003c0003 a0013c0023	a0003c0003t0001 a0013c0023t0002 a0003c0003t0001 a0013c0023t0002	a0003c0003t0001g0003 a0013c0023t0002g0002 a0003c0003t0001g0003 a0013c0023t0002g0002	3	464	0.0065	16	c.-18 others(27): Show c.-1823_-1822insGTGTGTGTGTGTGCGC	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		1578		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15730704	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(36): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00639.hp2 HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG02015.hp2 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02165.hp1 HG03017.hp2 HG03209.hp2 HG03239.hp2 HG03654.hp2 HG03710.hp1 HG04199.hp1 NA18948.hp1 NA18963.hp2 NA18968.hp2 NA18980.hp2 NA18992.hp1 NA18993.hp1 NA18997.hp1 NA19054.hp1 NA19062.hp2 NA19064.hp1 NA19070.hp2 NA20129.hp1 NA20300.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0003c0003 a0004c0004 others(1): Show a0002c0002 a0003c0003 a0004c0004 a0005c0005	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 others(2): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001	a0002c0002t0001g0090 a0002c0002t0002g0039 a0003c0003t0001g0003 others(12): Show a0002c0002t0001g0090 a0002c0002t0002g0039 a0003c0003t0001g0003 a0003c0003t0001g0010 a0003c0003t0001g0016 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0038 a0003c0003t0001g0042 a0003c0003t0001g0078 a0003c0003t0001g0082 a0003c0003t0001g0086 a0003c0003t0001g0088 a0004c0004t0001g0007 a0005c0005t0001g0009	39	464	0.0841	16	c.-18 others(27): Show c.-1823_-1822insGTGTGTGTGTGTGTGC	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		1578		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747754	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	464	0.0022	16	c.31 others(27): Show c.3162_*3163insAAAAAAAAAAAAAAAA	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2973		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 NA18942.hp1 NA18966.hp1 others(1): Show HG02300.hp1 NA18942.hp1 NA18966.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0034 a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0034	4	464	0.0086	16	c.31 others(27): Show c.3182_*3183insAAAAAAAAAAAAATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(9): Show AAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0044 a0002c0002t0002g0044	1	464	0.0022	16	c.31 others(27): Show c.3182_*3183insAAAAAAAAAAATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01109.hp2 HG02523.hp1 others(2): Show HG00423.hp1 HG01109.hp2 HG02523.hp1 NA18946.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0094 a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0094	5	464	0.0108	16	c.31 others(27): Show c.3182_*3183insAAAAAAAAATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(9): Show AAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 NA19011.hp2 NA19088.hp1 HG04184.hp1 NA19011.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0024 a0002c0002t0002g0008 a0002c0002t0002g0024	3	464	0.0065	16	c.31 others(27): Show c.3182_*3183insAAAAAAATATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02451.hp2 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0098 a0002c0002t0002g0022 a0002c0002t0002g0098	2	464	0.0043	16	c.31 others(27): Show c.3182_*3183insAAAAATATATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAATATA others(9): Show AAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 NA19067.hp2 NA20905.hp2 HG03942.hp2 NA19067.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0004 a0002c0002t0002g0104 a0002c0002t0002g0106	3	464	0.0065	16	c.31 others(27): Show c.3182_*3183insAAATATATATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D28_chr17_18629247_18649391	18634788	C C	CGCCCCTC others(9): Show CGCCCCTCAGCCCCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0018 a0001c0001t0011g0018	3	466	0.0064	16	c.16 others(27): Show c.1658_*1673dupTGAGGGGCTGAGGGGC	TBC1D28	ENSG00000189375.12	transcript	ENST00000405044.7	protein_coding	10/10	1673		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77990664	T T	TGCGCGCA others(9): Show TGCGCGCACGCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0203 a0002c0003t0001g0203	1	280	0.0036	16	c.74 others(27): Show c.7495_*7496insGCGCGCGCGTGCGCGC	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4320		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77990664	T T	TGCGCGCG others(9): Show TGCGCGCGCGCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0219 a0002c0003t0001g0219	1	280	0.0036	16	c.74 others(27): Show c.7495_*7496insGCGCGCGCGCGCGCGC	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4320		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCACACAC others(9): Show GCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	280	0.0036	16	c.74 others(27): Show c.7473_*7488dupTGTGTGTGTGTGTGTG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGC others(9): Show GCGCGCGCGCGCGCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02895.hp1 HG02897.hp1 others(3): Show HG02572.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03139.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0009 a0002c0003t0001 a0002c0003t0009 a0001c0002t0009 a0002c0003t0001 a0002c0003t0009	a0001c0002t0009g0002 a0002c0003t0001g0265 a0002c0003t0001g0266 others(2): Show a0001c0002t0009g0002 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0009g0259	6	280	0.0214	16	c.74 others(27): Show c.7488_*7489insTGCGCGCGCGCGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992824	T T	TCCCCCCA others(9): Show TCCCCCCAATCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0013 a0001c0005t0011g0014 a0001c0005t0011g0015 a0001c0005t0011g0013 a0001c0005t0011g0014 a0001c0005t0011g0015	3	280	0.0107	16	c.53 others(27): Show c.5335_*5336insGCGGGGGATTGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2160		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992835	T T	TCCCCCCC others(9): Show TCCCCCCCACTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03831.hp2 HG02970.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0152 a0001c0002t0001g0071 a0001c0001t0006g0152 a0001c0002t0001g0071	2	280	0.0071	16	c.53 others(27): Show c.5324_*5325insGGGGGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2149		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992861	T T	TCCACTCC others(9): Show TCCACTCCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02622.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0030 a0001c0002t0016 a0001c0001t0030 a0001c0002t0016	a0001c0001t0030g0109 a0001c0002t0016g0069 a0001c0001t0030g0109 a0001c0002t0016g0069	2	280	0.0071	16	c.52 others(27): Show c.5298_*5299insGAGTGGGGGGGAGTGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2123		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992863	C C	CACTCCCC others(9): Show CACTCCCCCCCACTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0054 a0001c0002t0006g0054	1	280	0.0036	16	c.52 others(27): Show c.5296_*5297insAGGAGTGGGGGGGAGT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2121		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGAAAG others(9): Show GAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01070.hp2 others(19): Show HG00140.hp1 HG00280.hp1 HG01070.hp2 HG01071.hp1 HG01516.hp2 HG01952.hp1 HG02602.hp1 HG02886.hp2 HG03471.hp1 NA18747.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18967.hp1 NA18977.hp1 NA18990.hp1 NA18992.hp2 NA19002.hp1 NA19060.hp2 NA19074.hp2 NA19087.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0008 a0001c0002t0013 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0013 a0001c0002t0017 a0001c0002t0036 a0002c0003t0002	a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0126 others(18): Show a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0008g0114 a0001c0001t0008g0115 a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0008g0118 a0001c0001t0008g0119 a0001c0001t0008g0132 a0001c0002t0013g0021 a0001c0002t0013g0022 a0001c0002t0013g0023 a0001c0002t0013g0039 a0001c0002t0017g0025 a0001c0002t0036g0029 a0002c0003t0002g0007	22	280	0.0786	16	c.683 others(33): Show c.683+4029_683+4044dupTCTTTCTTTCTTTCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(9): Show GAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02922.hp1 NA18939.hp1 others(1): Show HG00741.hp1 HG02922.hp1 NA18939.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0004 a0001c0002t0006 a0001c0005t0011 a0001c0001t0004 a0001c0002t0006 a0001c0005t0011	a0001c0001t0004g0148 a0001c0001t0004g0157 a0001c0002t0006g0053 others(1): Show a0001c0001t0004g0148 a0001c0001t0004g0157 a0001c0002t0006g0053 a0001c0005t0011g0011	4	280	0.0143	16	c.683 others(33): Show c.683+4044_683+4045insTCTTTCTTTCTTCCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040880	A A	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	280	0.0036	16	c.683 others(33): Show c.683+4019_683+4020insCTCTTTCTTTCTTTCT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2_chr9_98194011_98260649	98209756	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp2 HG02818.hp2 HG03098.hp2	a0016 a0018 a0016 a0018	a0016c0025 a0018c0029 a0016c0025 a0018c0029	a0016c0025t0001 a0018c0029t0001 a0016c0025t0001 a0018c0029t0001	a0016c0025t0001g0039 a0018c0029t0001g0274 a0016c0025t0001g0039 a0018c0029t0001g0274	2	366	0.0055	16	c.167 others(33): Show c.1674-628_1674-613dupGGAAGGAAGGAAGGAA	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	8/12			chr9	TogoVar
TBC1D2_chr9_98194011_98260649	98232342	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp2 HG02109.hp2 others(9): Show HG01081.hp1 HG01243.hp2 HG02109.hp2 HG02615.hp1 HG02895.hp1 HG02976.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1	a0003 a0006 a0020 a0003 a0006 a0020	a0003c0004 a0003c0011 a0003c0026 others(5): Show a0003c0004 a0003c0011 a0003c0026 a0003c0036 a0006c0016 a0006c0035 a0006c0038 a0020c0037	a0003c0004t0001 a0003c0011t0001 a0003c0026t0001 others(5): Show a0003c0004t0001 a0003c0011t0001 a0003c0026t0001 a0003c0036t0001 a0006c0016t0001 a0006c0035t0001 a0006c0038t0001 a0020c0037t0001	a0003c0004t0001g0045 a0003c0004t0001g0303 a0003c0004t0001g0315 others(9): Show a0003c0004t0001g0045 a0003c0004t0001g0303 a0003c0004t0001g0315 a0003c0011t0001g0042 a0003c0011t0001g0044 a0003c0026t0001g0041 a0003c0036t0001g0288 a0006c0016t0001g0048 a0006c0016t0001g0049 a0006c0035t0001g0295 a0006c0038t0001g0294 a0020c0037t0001g0043	12	366	0.0328	16	c.781 others(33): Show c.781+1073_781+1074insAAAAAAAAAAAAAAAA	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	4/12			chr9	TogoVar
TBC1D30_chr12_64819647_64886033	64840004	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0027 a0002c0005t0027	a0002c0005t0027g0232 a0002c0005t0027g0232	1	298	0.0034	16	c.932 others(33): Show c.932+1162_932+1177dupAAAAAAAAAAAAAAAA	TBC1D30	ENSG00000111490.15	transcript	ENST00000539867.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TBC1D31_chr8_123067707_123157153	123127261	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0070 a0001c0009t0001g0070	1	322	0.0031	16	c.188 others(33): Show c.1884+585_1884+600dupTTTTTTTTTTTTTTTT	TBC1D31	ENSG00000156787.17	transcript	ENST00000287380.6	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
TBC1D4_chr13_75278503_75487169	75312424	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0049 a0001c0001t0007g0049	1	214	0.0047	16	c.238 others(33): Show c.2383+298_2383+313dupCTTTCTTTCTTTCTTT	TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	13/20			chr13	TogoVar
TBC1D4_chr13_75278503_75487169	75404059	T T	TATATACA others(9): Show TATATACATACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03225.hp1 HG03453.hp2 others(1): Show HG00738.hp1 HG03225.hp1 HG03453.hp2 HG03831.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0006 a0004c0020 others(1): Show a0001c0003 a0003c0006 a0004c0020 a0004c0041	a0001c0003t0002 a0003c0006t0002 a0004c0020t0004 others(1): Show a0001c0003t0002 a0003c0006t0002 a0004c0020t0004 a0004c0041t0001	a0001c0003t0002g0161 a0003c0006t0002g0131 a0004c0020t0004g0037 others(1): Show a0001c0003t0002g0161 a0003c0006t0002g0131 a0004c0020t0004g0037 a0004c0041t0001g0119	4	214	0.0187	16	c.499 others(35): Show c.499-41453_499-41452insGTGTGTGTATGTATAT	TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	1/20			chr13	TogoVar
TBC1D4_chr13_75278503_75487169	75447500	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03225.hp1 HG02886.hp1 HG03225.hp1	a0002 a0004 a0002 a0004	a0002c0042 a0004c0041 a0002c0042 a0004c0041	a0002c0042t0004 a0004c0041t0001 a0002c0042t0004 a0004c0041t0001	a0002c0042t0004g0118 a0004c0041t0001g0119 a0002c0042t0004g0118 a0004c0041t0001g0119	2	214	0.0094	16	c.498 others(35): Show c.498+33754_498+33769dupCACACACACACACACA	TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	1/20			chr13	TogoVar
TBC1D4_chr13_75278503_75487169	75480877	G G	GCACGCAC others(9): Show GCACGCACACACACACA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0208 a0002c0002t0004g0208	1	214	0.0047	16	c.498 others(31): Show c.498+392_498+393insTGTGTGTGTGTGCGTG	TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	1/20			chr13	TogoVar
TBC1D5_chr3_17152168_17747631	17284089	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01255.hp1 others(7): Show HG00099.hp1 HG00738.hp2 HG01255.hp1 HG02109.hp2 HG02622.hp2 HG02970.hp2 HG03209.hp1 HG03486.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0014 a0002c0002t0019	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0026 others(7): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0026 a0001c0001t0003g0088 a0001c0001t0004g0044 a0002c0002t0001g0036 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0014g0027 a0002c0002t0019g0083	10	162	0.0617	16	c.124 others(35): Show c.1245+7790_1245+7805dupGTGTGTGTGTGTGTGT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	15/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17284111	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0154	1	162	0.0062	16	c.124 others(35): Show c.1245+7783_1245+7784insATGTGTGTGTGTGTGT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	15/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17337123	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02630.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0155 a0001c0001t0007g0156 a0001c0001t0001g0155 a0001c0001t0007g0156	2	162	0.0124	16	c.996 others(35): Show c.996-29005_996-28990dupAAAAAAAAAAAAAAAA	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	13/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17372039	A A	AAAACAAA others(9): Show AAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(53): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG02056.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG03834.hp1 NA18986.hp2 NA18999.hp1 NA19030.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0002c0002t0001 a0002c0002t0007 a0002c0002t0014 a0002c0002t0019 a0002c0002t0021	a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0029 others(53): Show a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0080 a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0003g0088 a0001c0001t0003g0104 a0001c0001t0004g0044 a0001c0001t0004g0095 a0001c0001t0005g0040 a0001c0001t0007g0151 a0001c0001t0008g0017 a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0009g0038 a0001c0001t0009g0079 a0001c0001t0012g0103 a0001c0001t0016g0010 a0001c0001t0018g0019 a0001c0001t0022g0152 a0001c0001t0023g0137 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0078 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0112 a0002c0002t0007g0107 a0002c0002t0007g0150 a0002c0002t0014g0027 a0002c0002t0019g0083 a0002c0002t0021g0015	56	162	0.3457	16	c.995 others(29): Show c.995+20_995+35dupGTTTGTTTGTTTGTTT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	13/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17380045	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0125	1	162	0.0062	16	c.613 others(33): Show c.613-3448_613-3433dupCACACACACACACACA	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	9/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17484455	G G	GGGGTGTG others(9): Show GGGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0158 a0001c0001t0011g0158	1	162	0.0062	16	c.97+ others(33): Show c.97+24018_97+24019insACACACACACACACCC	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	3/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17484455	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02280.hp2 NA18957.hp2 HG00280.hp1 HG02280.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0011g0160 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0011g0160	3	162	0.0185	16	c.97+ others(33): Show c.97+24003_97+24018dupACACACACACACACAC	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	3/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17533889	C C	CAGATAGA others(9): Show CAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02280.hp2 others(7): Show HG01109.hp2 HG01891.hp1 HG02280.hp2 HG02647.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03195.hp1 HG03225.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0003c0005t0001 a0001c0001t0001 a0001c0001t0004 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0113 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0004g0114 a0003c0005t0001g0115	10	162	0.0617	16	c.-35 others(35): Show c.-35-25300_-35-25285dupATCTATCTATCTATCT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	2/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17591233	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	162	0.0062	16	c.-36 others(35): Show c.-36+32600_-36+32615dupTTTTTTTTTTTTTTTT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	2/22			chr3	TogoVar
TBC1D5_chr3_17152168_17747631	17732720	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04228.hp2 NA20300.hp1 HG03942.hp1 HG04228.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0024 a0001c0001t0002g0159 a0001c0001t0004g0161 a0001c0001t0002g0024 a0001c0001t0002g0159 a0001c0001t0004g0161	3	162	0.0185	16	c.-10 others(35): Show c.-101+9745_-101+9760dupATTTATTTATTTATTT	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	1/22			chr3	TogoVar
TBC1D8B_chrX_106797673_106881150	106800407	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02895.hp1 others(1): Show HG01243.hp1 HG02559.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0001 a0001c0002t0009	a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0164 others(1): Show a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0009g0165	4	226	0.0177	16	c.-24 others(27): Show c.-2447_-2446insGTGTGTGTGTGTGTGT	TBC1D8B	ENSG00000133138.20	transcript	ENST00000357242.10	protein_coding		2265		chrX	TogoVar
TBC1D8_chr2_101002228_101156382	101054672	C C	CTTTTCTT others(9): Show CTTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0298 a0006c0013t0001g0298	1	332	0.0030	16	c.403 others(31): Show c.403-337_403-336insAAAAAAAAAAAGAAAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	3/19			chr2	TogoVar
TBC1D8_chr2_101002228_101156382	101054672	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01168.hp2 HG01169.hp1 others(9): Show HG00408.hp2 HG01168.hp2 HG01169.hp1 HG02148.hp1 HG02523.hp2 NA18950.hp2 NA18954.hp2 NA18959.hp2 NA18982.hp1 NA19007.hp2 NA19067.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 others(9): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0001g0179 a0001c0001t0001g0300 a0001c0001t0001g0309 a0001c0001t0001g0311	12	332	0.0361	16	c.403 others(31): Show c.403-352_403-337dupAAAAAAAAAAAAAAAA	TBC1D8	ENSG00000204634.13	transcript	ENST00000409318.2	protein_coding	3/19			chr2	TogoVar
TBC1D9B_chr5_179857071_179912897	179881946	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0134 a0002c0006t0005g0134	1	362	0.0028	16	c.125 others(35): Show c.1255-2173_1255-2158dupAAAAAAAAAAAAAAAA	TBC1D9B	ENSG00000197226.13	transcript	ENST00000355235.8	protein_coding	7/20			chr5	TogoVar
TBC1D9_chr4_140615782_140761385	140671674	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02717.hp2 HG02922.hp1 others(4): Show HG01192.hp1 HG02717.hp2 HG02922.hp1 HG03225.hp2 HG03516.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0148 a0001c0001t0001g0153 others(4): Show a0001c0001t0001g0093 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0175	7	298	0.0235	16	c.106 others(33): Show c.1060-764_1060-749dupCACACACACACACACA	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	6/20			chr4	TogoVar
TBC1D9_chr4_140615782_140761385	140671712	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02559.hp1 HG01070.hp2 HG01071.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0003 a0001c0017t0012 a0001c0001t0003 a0001c0017t0012	a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0017t0012g0271 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0017t0012g0271	3	298	0.0101	16	c.106 others(33): Show c.1060-787_1060-786insTACACACACACACACA	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	6/20			chr4	TogoVar
TBC1D9_chr4_140615782_140761385	140687342	T T	TGTGTGTC others(9): Show TGTGTGTCATATATATA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0295 a0001c0001t0016g0295	1	298	0.0034	16	c.242 others(31): Show c.242-881_242-880insTATATATATGACACAC	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	2/20			chr4	TogoVar
TBC1D9_chr4_140615782_140761385	140687343	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02004.hp2 HG02056.hp2 others(1): Show HG01346.hp1 HG02004.hp2 HG02056.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0065	4	298	0.0134	16	c.242 others(31): Show c.242-897_242-882dupATATATATATATATAT	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	2/20			chr4	TogoVar
TBC1D9_chr4_140615782_140761385	140709248	T T	TCTCTCAC others(9): Show TCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0245 a0001c0002t0001g0245	1	298	0.0034	16	c.131 others(33): Show c.131-7635_131-7634insTGTGTGTGTGTGAGAG	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	1/20			chr4	TogoVar
TBC1D9_chr4_140615782_140761385	140709248	T T	TCTCTCTC others(9): Show TCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0164 a0001c0002t0006g0164	1	298	0.0034	16	c.131 others(33): Show c.131-7635_131-7634insTGTGTGAGAGAGAGAG	TBC1D9	ENSG00000109436.8	transcript	ENST00000442267.3	protein_coding	1/20			chr4	TogoVar

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