Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TBC1D14_chr4_6904826_7038114	6958376	T T	TATACACA others(13): Show TATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG02145.hp1 HG00280.hp1 HG00323.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0059 a0001c0001t0003g0301 a0001c0001t0003g0001 a0001c0001t0003g0059 a0001c0001t0003g0301	3	30	0.1000	20	c.723 others(37): Show c.723-8927_723-8926insTACACACACACACACACACA	TBC1D14	ENSG00000132405.19	transcript	ENST00000409757.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(13): Show CCCTCCCCTCCCCTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0184 a0001c0002t0042g0184	1	110	0.0091	20	c.10 others(33): Show c.10874_*10875insAGAGGAGAGGGGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79930030	C C	CCTCCCCT others(13): Show CCTCCCCTCCCCTCCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0085 a0001c0002t0085	a0001c0002t0085g0303 a0001c0002t0085g0303	1	332	0.0030	20	c.10 others(33): Show c.10828_*10829insAGGAGGGGAGGGGAGGGGAG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2312		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79930040	T T	TCTCCCCT others(13): Show TCTCCCCTCCCCTCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03516.hp2 NA21309.hp2 HG03225.hp2 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0327 a0001c0001t0003g0329 a0001c0001t0003g0289 a0001c0001t0003g0327 a0001c0001t0003g0329	3	270	0.0111	20	c.10 others(33): Show c.10818_*10819insGGGAGGGGAGGGGAGGGGAG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2302		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79984619	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02145.hp2 HG02647.hp1 others(3): Show HG01070.hp1 HG02145.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0003c0013	a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 others(3): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0003t0020 a0001c0007t0013 a0003c0013t0037	a0001c0001t0008g0293 a0001c0001t0011g0161 a0001c0001t0016g0178 others(3): Show a0001c0001t0008g0293 a0001c0001t0011g0161 a0001c0001t0016g0178 a0001c0003t0020g0321 a0001c0007t0013g0317 a0003c0013t0037g0328	6	190	0.0316	20	c.779 others(39): Show c.779+25540_779+25541insTTCCTTCCTTCCTTCCTTCC	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	3/11			chr17	TogoVar
TBC1D16_chr17_79927343_80040872	80037688	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0095	1	213	0.0047	20	c.-19 others(31): Show c.-1957_-1956insATATATATATATATATTTTT	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		1817		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	80037690	G G	GATATATA others(13): Show GATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG01943.hp1 others(7): Show HG00099.hp1 HG00733.hp2 HG01943.hp1 HG02027.hp1 HG02155.hp2 HG02735.hp2 HG04204.hp2 HG04228.hp2 NA18975.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0053 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0053 a0001c0002t0001 a0001c0003t0020 a0001c0004t0004 a0001c0004t0018 a0001c0009t0028	a0001c0001t0001g0011 a0001c0001t0003g0059 a0001c0001t0003g0063 others(7): Show a0001c0001t0001g0011 a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0053g0007 a0001c0002t0001g0106 a0001c0002t0001g0124 a0001c0003t0020g0321 a0001c0004t0004g0030 a0001c0004t0018g0057 a0001c0009t0028g0299	10	117	0.0855	20	c.-19 others(31): Show c.-1959_-1958insATATATATATATATATATAT	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		1819		chr17	TogoVar
TBC1D17_chr19_49872702_49893750	49876686	G G	GCCCCGCC others(13): Show GCCCCGCCTCCTCTCCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	418	0.0024	20	c.-10 others(31): Show c.-1038_-1037insCCCCGCCTCCTCTCCGCACA	TBC1D17	ENSG00000104946.14	transcript	ENST00000221543.10	protein_coding		1015		chr19	TogoVar
TBC1D19_chr4_26579084_26761223	26673446	T T	TATATACA others(13): Show TATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02630.hp1 HG00733.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0173 a0001c0001t0001g0186	2	36	0.0556	20	c.704 others(35): Show c.704-329_704-328insTATACACACACACACACACA	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26673446	T T	TATATATA others(13): Show TATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG01243.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 others(1): Show a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0187	4	38	0.1053	20	c.704 others(35): Show c.704-329_704-328insTATATACACACACACACACA	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26673446	T T	TATATATA others(13): Show TATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	35	0.0286	20	c.704 others(35): Show c.704-329_704-328insTATATATACACACACACACA	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D19_chr4_26579084_26761223	26673446	T T	TATATATA others(13): Show TATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp1 HG01258.hp2 others(1): Show HG00738.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0110 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0110 a0001c0001t0001g0204	4	38	0.1053	20	c.704 others(35): Show c.704-329_704-328insTATATATATACACACACACA	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D1_chr4_37886084_38144173	38052194	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0002 a0015c0026t0002	a0015c0026t0002g0229 a0015c0026t0002g0229	1	290	0.0034	20	c.207 others(37): Show c.2072+135_2072+136insTGTGTGTGTGTGTGTGTGCG	TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D20_chr20_430480_467533	466637	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	102	0.0098	20	c.-42 others(31): Show c.-4233_-4232insTATATATATATATATATACA	TBC1D20	ENSG00000125875.15	transcript	ENST00000354200.5	protein_coding		4105		chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	46841047	G G	GGTGGGTG others(13): Show GGTGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	51	0.0196	20	c.638 others(39): Show c.638-37603_638-37602insGGTGTGTGTGTGTGTGTGTG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46904142	T T	TCTATCTA others(13): Show TCTATCTATCTGCCTACCTAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01243.hp1 HG01433.hp1 others(2): Show HG00280.hp1 HG01243.hp1 HG01433.hp1 HG02615.hp2 HG02717.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0003c0005t0001	a0001c0001t0001g0094 a0001c0001t0002g0099 a0001c0001t0005g0085 others(2): Show a0001c0001t0001g0094 a0001c0001t0002g0099 a0001c0001t0005g0085 a0001c0001t0006g0095 a0003c0005t0001g0066	5	39	0.1282	20	c.901 others(37): Show c.901-7929_901-7928insTCTATCTGCCTACCTACCTA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46904142	T T	TCTATCTG others(13): Show TCTATCTGCCTACCTACCTAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp2 HG02615.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0107 a0001c0001t0009g0025 a0001c0001t0005g0107 a0001c0001t0009g0025	2	36	0.0556	20	c.901 others(37): Show c.901-7929_901-7928insTCTGCCTACCTACCTACCTA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46904142	T T	TCTGCCTA others(13): Show TCTGCCTACCTACCTACCTAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0040 a0001c0001t0010g0106 a0001c0001t0002g0040 a0001c0001t0010g0106	2	36	0.0556	20	c.901 others(37): Show c.901-7930_901-7929insGCCTACCTACCTACCTACCT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46920057	T T	TTGTATGT others(13): Show TTGTATGTATGTATGTATGTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	33	0.0303	20	c.101 others(39): Show c.1015+7880_1015+7899dupTATGTATGTATGTATGTATG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46920084	T T	TATGTATG others(13): Show TATGTATGTATGTATGTATGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01515.hp1 HG01261.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0092 a0001c0001t0004g0020 a0001c0001t0004g0092	2	95	0.0211	20	c.101 others(39): Show c.1015+7899_1015+7900insTATGTATGTATGTATGAATG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46941208	T T	TATATGTA others(13): Show TATATGTATACACACACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	50	0.0200	20	c.101 others(41): Show c.1015+29021_1015+29022insTATGTATACACACACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47016857	G G	GCTGTTGT others(13): Show GCTGTTGTGCTCCTCAGAGTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02622.hp1 others(5): Show HG01884.hp1 HG02145.hp2 HG02622.hp1 HG02723.hp1 HG03130.hp1 HG04199.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0061 a0001c0001t0002g0009 a0001c0001t0002g0016 others(5): Show a0001c0001t0001g0061 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0039 a0001c0001t0002g0052 a0001c0001t0004g0024 a0001c0001t0004g0053 a0001c0001t0010g0023	8	112	0.0714	20	c.120 others(41): Show c.1201+19152_1201+19171dupTTGTGCTCCTCAGAGTCCTG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47076369	A A	ATATATAT others(13): Show ATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	112	0.0089	20	c.133 others(41): Show c.1330-35127_1330-35126insTATGTGTGTATATATATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47159331	A A	ACACACCA others(13): Show ACACACCATGTACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03225.hp2 HG03486.hp1 HG02717.hp2 HG03225.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0002g0099 a0001c0001t0004g0045 a0001c0001t0010g0106 a0001c0001t0002g0099 a0001c0001t0004g0045 a0001c0001t0010g0106	3	74	0.0405	20	c.142 others(41): Show c.1426-14162_1426-14161insCATGTACACACACACCACAC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	203	0.0049	20	c.31 others(31): Show c.3182_*3183insAAAAAAAAAAAAAAAAATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 NA19054.hp2 HG01928.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	204	0.0098	20	c.31 others(31): Show c.3182_*3183insAAAAAAAAAAAAATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D26_chr17_15727283_15749782	15747774	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG02698.hp1 NA18971.hp1 others(4): Show HG01993.hp1 HG02698.hp1 NA18971.hp1 NA18998.hp2 NA19003.hp1 NA19010.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0034 a0002c0002t0002g0044 others(2): Show a0002c0002t0002g0002 a0002c0002t0002g0034 a0002c0002t0002g0044 a0002c0002t0002g0105 a0002c0002t0002g0108	7	209	0.0335	20	c.31 others(31): Show c.3182_*3183insAAAAAAAAAAATATATATAT	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		2993		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCACACAC others(13): Show GCACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	37	0.0270	20	c.74 others(31): Show c.7469_*7488dupTGTGTGTGTGTGTGTGTGTG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGC others(13): Show GCGCGCGCGCGCACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG06807.hp1 HG01496.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0019 a0002c0003t0001 a0001c0002t0019 a0002c0003t0001	a0001c0002t0019g0044 a0002c0003t0001g0224 a0001c0002t0019g0044 a0002c0003t0001g0224	2	38	0.0526	20	c.74 others(31): Show c.7488_*7489insTGTGTGTGTGCGCGCGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGC others(13): Show GCGCGCGCGCGCGCGCACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01978.hp1 HG02015.hp1 others(6): Show HG01433.hp2 HG01978.hp1 HG02015.hp1 HG03579.hp2 NA18980.hp2 NA18986.hp2 NA18990.hp2 NA19002.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0002c0003t0021 others(1): Show a0001c0002t0001 a0002c0003t0001 a0002c0003t0021 a0002c0003t0045	a0001c0002t0001g0063 a0002c0003t0001g0197 a0002c0003t0001g0215 others(6): Show a0001c0002t0001g0063 a0002c0003t0001g0197 a0002c0003t0001g0215 a0002c0003t0001g0217 a0002c0003t0001g0231 a0002c0003t0001g0245 a0002c0003t0001g0252 a0002c0003t0021g0240 a0002c0003t0045g0268	9	45	0.2000	20	c.74 others(31): Show c.7488_*7489insTGTGTGCGCGCGCGCGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGC others(13): Show GCGCGCGCGCGCGCGCGCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01099.hp2 HG01952.hp2 HG01070.hp1 HG01099.hp2 HG01952.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0003 a0001c0007 a0002c0003	a0001c0007t0001 a0002c0003t0001 a0002c0003t0044 a0001c0007t0001 a0002c0003t0001 a0002c0003t0044	a0001c0007t0001g0061 a0002c0003t0001g0219 a0002c0003t0044g0220 a0001c0007t0001g0061 a0002c0003t0001g0219 a0002c0003t0044g0220	3	39	0.0769	20	c.74 others(31): Show c.7488_*7489insTGTGCGCGCGCGCGCGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77991289	C C	CCTCAAGG others(13): Show CCTCAAGGTCCAGTGGCAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0055 a0001c0002t0006g0055	1	278	0.0036	20	c.68 others(31): Show c.6851_*6870dupCACTGCCACTGGACCTTGAG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		3695		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992796	C C	CCCCCCCC others(13): Show CCCCCCCCCACTCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0255 a0002c0003t0001g0255	1	224	0.0045	20	c.53 others(31): Show c.5363_*5364insAGTGGGGGGAGTGGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2188		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992805	T T	TCCCCCCA others(13): Show TCCCCCCACTCCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18975.hp1 NA18972.hp1 NA18975.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0004 a0009c0012t0010 a0001c0001t0004 a0009c0012t0010	a0001c0001t0004g0160 a0009c0012t0010g0162 a0001c0001t0004g0160 a0009c0012t0010g0162	2	182	0.0110	20	c.53 others(31): Show c.5335_*5354dupGAGTGGGGGGGAGTGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2179		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992851	C C	CCCCCCCC others(13): Show CCCCCCCCACTCCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0004	1	249	0.0040	20	c.52 others(31): Show c.5289_*5308dupAGTGGGGGGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2133		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992856	C C	CCCACTCC others(13): Show CCCACTCCACTCCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0260 a0002c0003t0009g0260	1	266	0.0038	20	c.53 others(31): Show c.5303_*5304insAGTGGGGGGGAGTGGAGTGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2128		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992862	C C	CCCCCCCC others(13): Show CCCCCCCCACTCCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0125 a0001c0001t0002g0111 a0001c0001t0002g0125	2	231	0.0087	20	c.52 others(31): Show c.5297_*5298insAGTGGGGGGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2122		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992871	T T	TCCCCCCC others(13): Show TCCCCCCCACTCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02080.hp1 HG02145.hp1 others(4): Show HG01496.hp1 HG02080.hp1 HG02145.hp1 HG02523.hp1 HG02647.hp2 NA18945.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0018 a0001c0001t0004 a0001c0001t0010 a0001c0001t0018	a0001c0001t0004g0155 a0001c0001t0004g0171 a0001c0001t0004g0184 others(4): Show a0001c0001t0004g0155 a0001c0001t0004g0171 a0001c0001t0004g0184 a0001c0001t0010g0185 a0001c0001t0018g0178 a0001c0001t0018g0179 a0001c0001t0018g0183	7	116	0.0603	20	c.52 others(31): Show c.5288_*5289insGAGTGGGGGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2113		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992889	T T	TCCCCCCA others(13): Show TCCCCCCACTCCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0001 a0003c0004t0005g0001	1	249	0.0040	20	c.52 others(31): Show c.5270_*5271insGAGTGGGGGGGAGTGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2095		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992889	T T	TCCCCCCC others(13): Show TCCCCCCCACTCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA19010.hp1 NA18979.hp2 NA19010.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0246 a0002c0003t0001g0008 a0002c0003t0001g0246	2	250	0.0080	20	c.52 others(31): Show c.5270_*5271insGAGTGGGGGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2095		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01975.hp1 HG02698.hp1 others(6): Show HG00609.hp1 HG01975.hp1 HG02698.hp1 HG02970.hp2 HG03710.hp2 HG03831.hp1 NA18970.hp2 NA18975.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0041 a0001c0002t0017 a0001c0001t0002 a0001c0001t0041 a0001c0002t0017	a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0135 others(6): Show a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0041g0133 a0001c0002t0017g0042	9	55	0.1636	20	c.683 others(37): Show c.683+4025_683+4044dupTCTTTCTTTCTTTCTTTCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(13): Show GAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03239.hp1 HG04115.hp1 others(4): Show HG00738.hp1 HG03239.hp1 HG04115.hp1 NA19009.hp2 NA19043.hp1 NA19060.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0004 a0001c0001t0010 a0001c0002t0001 others(1): Show a0001c0001t0004 a0001c0001t0010 a0001c0002t0001 a0001c0005t0006	a0001c0001t0004g0147 a0001c0001t0004g0153 a0001c0001t0004g0158 others(4): Show a0001c0001t0004g0147 a0001c0001t0004g0153 a0001c0001t0004g0158 a0001c0001t0010g0161 a0001c0001t0010g0167 a0001c0002t0001g0066 a0001c0005t0006g0016	7	53	0.1321	20	c.683 others(37): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTCCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2_chr9_98194011_98260649	98209756	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01516.hp2 NA19030.hp1 others(1): Show HG01081.hp1 HG01516.hp2 NA19030.hp1 NA19240.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0003 a0003c0004 a0003c0009 others(1): Show a0002c0003 a0003c0004 a0003c0009 a0005c0010	a0002c0003t0001 a0003c0004t0001 a0003c0009t0001 others(1): Show a0002c0003t0001 a0003c0004t0001 a0003c0009t0001 a0005c0010t0001	a0002c0003t0001g0006 a0003c0004t0001g0048 a0003c0009t0001g0043 others(1): Show a0002c0003t0001g0006 a0003c0004t0001g0048 a0003c0009t0001g0043 a0005c0010t0001g0037	4	126	0.0317	20	c.167 others(37): Show c.1674-632_1674-613dupGGAAGGAAGGAAGGAAGGAA	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	8/12			chr9	TogoVar
TBC1D2_chr9_98194011_98260649	98232342	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG00741.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0076 a0001c0001t0001g0088	2	200	0.0100	20	c.781 others(37): Show c.781+1073_781+1074insAAAAAAAAAAAAAAAAAAAA	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	4/12			chr9	TogoVar
TBC1D30_chr12_64819647_64886033	64840004	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG03098.hp2 others(1): Show HG02109.hp1 HG02630.hp1 HG03098.hp2 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0012 a0002c0005t0006 a0002c0005t0012	a0002c0005t0006g0239 a0002c0005t0012g0032 a0002c0005t0012g0240 a0002c0005t0006g0239 a0002c0005t0012g0032 a0002c0005t0012g0240	4	52	0.0769	20	c.932 others(37): Show c.932+1158_932+1177dupAAAAAAAAAAAAAAAAAAAA	TBC1D30	ENSG00000111490.15	transcript	ENST00000539867.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TBC1D32_chr6_121074494_121339480	121213524	T T	TAAAATAA others(13): Show TAAAATAAAATAAAATAAATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0220 a0001c0003t0005g0220	1	245	0.0041	20	c.248 others(39): Show c.2482-8362_2482-8361insTATTTATTTTATTTTATTTT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	21/31			chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121213524	T T	TAAAATAA others(13): Show TAAAATAAAATAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01993.hp2 HG02148.hp1 others(1): Show HG01934.hp2 HG01993.hp2 HG02148.hp1 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0014 a0001c0003t0005 a0001c0003t0014	a0001c0003t0005g0213 a0001c0003t0005g0219 a0001c0003t0005g0224 others(1): Show a0001c0003t0005g0213 a0001c0003t0005g0219 a0001c0003t0005g0224 a0001c0003t0014g0221	4	248	0.0161	20	c.248 others(39): Show c.2482-8362_2482-8361insTATTTTATTTATTTTATTTT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	21/31			chr6	TogoVar
TBC1D4_chr13_75278503_75487169	75343503	G G	GTTTATTT others(13): Show GTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02572.hp2 HG03195.hp1 HG01952.hp1 HG02572.hp2 HG03195.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0002 a0004c0009 a0001c0003 a0002c0002 a0004c0009	a0001c0003t0039 a0002c0002t0005 a0004c0009t0004 a0001c0003t0039 a0002c0002t0005 a0004c0009t0004	a0001c0003t0039g0171 a0002c0002t0005g0185 a0004c0009t0004g0136 a0001c0003t0039g0171 a0002c0002t0005g0185 a0004c0009t0004g0136	3	209	0.0144	20	c.140 others(39): Show c.1409-1936_1409-1917dupATAAAATAAAATAAAATAAA	TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	5/20			chr13	TogoVar
TBC1D4_chr13_75278503_75487169	75390845	A A	AGGGAGGG others(13): Show AGGGAGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp2 HG02717.hp1 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0023 a0002c0002 a0002c0023	a0002c0002t0005 a0002c0023t0012 a0002c0002t0005 a0002c0023t0012	a0002c0002t0005g0156 a0002c0023t0012g0008 a0002c0002t0005g0156 a0002c0023t0012g0008	2	13	0.1538	20	c.499 others(39): Show c.499-28258_499-28239dupCTCCCCTCCCCTCCCCTCCC	TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	1/20			chr13	TogoVar
TBC1D4_chr13_75278503_75487169	75404059	T T	TATATACA others(13): Show TATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0039	a0001c0003t0039g0171 a0001c0003t0039g0171	1	134	0.0075	20	c.499 others(39): Show c.499-41453_499-41452insGTGTGTGTGTGTGTGTATAT	TBC1D4	ENSG00000136111.14	transcript	ENST00000377636.8	protein_coding	1/20			chr13	TogoVar

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