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
MCEE_chr2_71104687_71135229	71106071	T T	TACACACA others(15): Show TACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02523.hp1 NA18944.hp2 others(8): Show HG01123.hp1 HG02523.hp1 NA18944.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA19006.hp2 NA19065.hp1 NA19066.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0021 others(4): Show a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0042 a0002c0002t0001g0139 a0002c0002t0001g0142	11	418	0.0263	22	c.38 others(33): Show c.3898_*3899insGTGTGTGTGTGTGTGTGTGTGT	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding		3615		chr2	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18975.hp2 NA19058.hp1 others(3): Show NA18964.hp1 NA18975.hp2 NA19058.hp1 NA19068.hp1 NA19079.hp1 NA19081.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0009 a0003c0003 a0008c0009	a0003c0003t0001 a0008c0009t0001 a0003c0003t0001 a0008c0009t0001	a0003c0003t0001g0010 a0008c0009t0001g0214 a0003c0003t0001g0010 a0008c0009t0001g0214	6	418	0.0144	22	c.41- others(35): Show c.41-669_41-668insAAAAAAAATATATATATATATA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0220 a0003c0003t0001g0220	1	418	0.0024	22	c.41- others(35): Show c.41-669_41-668insAAAAAAAAAAAATATATATATA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
MCEMP1_chr19_7672090_7684829	7674859	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 NA18952.hp1 NA19043.hp2 HG04184.hp2 NA18952.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0002g0011 a0001c0001t0003g0009 a0001c0001t0001g0009 a0001c0001t0002g0011 a0001c0001t0003g0009	3	448	0.0067	22	c.-22 others(33): Show c.-2262_-2261insTTTTTTTTTTTTTTTTTTTTTT	MCEMP1	ENSG00000183019.8	transcript	ENST00000333598.8	protein_coding		2230		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183228026	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18941.hp2 NA18969.hp1 HG02074.hp1 NA18941.hp2 NA18969.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0018 a0001c0001t0001g0141 a0003c0003t0003g0049 a0001c0001t0001g0018 a0001c0001t0001g0141 a0003c0003t0003g0049	3	176	0.0171	22	c.211 others(39): Show c.2115+270_2115+271insGTGTGTGTGTGTGTGTGTGTGT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	18/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183228028	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG02015.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02015.hp2 HG02735.hp1 NA18983.hp2 NA19043.hp2 NA19088.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0004c0004t0023 a0005c0006t0003	a0001c0001t0001g0006 a0002c0002t0001g0071 a0002c0002t0001g0097 others(4): Show a0001c0001t0001g0006 a0002c0002t0001g0071 a0002c0002t0001g0097 a0003c0003t0003g0098 a0004c0004t0023g0169 a0005c0006t0003g0005 a0005c0006t0003g0064	7	176	0.0398	22	c.211 others(39): Show c.2115+268_2115+269insGTGTGTGTGTGTGTGTGTGTGT	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	18/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183269230	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0088 a0011c0011t0001g0088	1	176	0.0057	22	c.186 others(41): Show c.1862+7641_1862+7642insAAAAAAAAAAAAAAAAAAAAAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCAC others(15): Show GCGCGCACGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp2 HG03130.hp1 NA18522.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0005 a0004c0004t0004 a0004c0004t0005	a0004c0004t0004g0052 a0004c0004t0005g0168 a0004c0004t0004g0052 a0004c0004t0005g0168	2	176	0.0114	22	c.130 others(41): Show c.1305+1239_1305+1240insTGTGCGCGCGCGCGCGTGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(15): Show GCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18968.hp2 NA18969.hp2 others(1): Show HG03486.hp2 NA18968.hp2 NA18969.hp2 NA19007.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0014c0014 a0001c0001 a0002c0002 a0014c0014	a0001c0001t0001 a0002c0002t0001 a0014c0014t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0014c0014t0001 a0014c0014t0002	a0001c0001t0001g0095 a0002c0002t0001g0040 a0014c0014t0001g0093 others(1): Show a0001c0001t0001g0095 a0002c0002t0001g0040 a0014c0014t0001g0093 a0014c0014t0002g0148	4	176	0.0227	22	c.130 others(41): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113040412	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp1 HG01358.hp2 others(12): Show HG00733.hp1 HG01175.hp1 HG01358.hp2 HG02109.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02738.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0002c0007	a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 others(11): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0016 a0001c0004t0001 a0001c0005t0032 a0001c0006t0002 a0001c0006t0030 a0001c0008t0003 a0001c0008t0004 a0001c0010t0021 a0002c0007t0001	a0001c0001t0005g0062 a0001c0001t0008g0066 a0001c0001t0014g0001 others(12): Show a0001c0001t0005g0062 a0001c0001t0008g0066 a0001c0001t0014g0001 a0001c0002t0001g0036 a0001c0002t0001g0040 a0001c0002t0002g0003 a0001c0002t0016g0054 a0001c0004t0001g0103 a0001c0005t0032g0106 a0001c0006t0002g0043 a0001c0006t0030g0096 a0001c0008t0003g0039 a0001c0008t0004g0083 a0001c0010t0021g0015 a0002c0007t0001g0112	15	116	0.1293	22	c.279 others(39): Show c.279-4855_279-4834dupGTGTGTGTGTGTGTGTGTGTGT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113040436	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG01243.hp1 HG02145.hp2	a0001 a0003 a0001 a0003	a0001c0012 a0003c0009 a0001c0012 a0003c0009	a0001c0012t0031 a0003c0009t0011 a0001c0012t0031 a0003c0009t0011	a0001c0012t0031g0021 a0003c0009t0011g0101 a0001c0012t0031g0021 a0003c0009t0011g0101	2	116	0.0172	22	c.279 others(39): Show c.279-4834_279-4833insGTGTGTGTGTGTGTGTGTGTTT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2_chrX_139576770_139713167	139675715	G G	GCCTGTAT others(15): Show GCCTGTATGAGGTATCAGTAGGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	249	0.0040	22	c.-44 others(41): Show c.-44-23949_-44-23928dupGCCTACTGATACCTCATACAGG	MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding	1/28			chrX	TogoVar
MCF2_chrX_139576770_139713167	139709615	C C	CATATATA others(15): Show CATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	249	0.0040	22	c.-15 others(33): Show c.-1555_-1554insATATATATATATATATATATAT	MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding		1449		chrX	TogoVar
MCM6_chr2_135834626_135881443	135835976	G G	GTATATAA others(15): Show GTATATAAATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0195 a0001c0002t0013g0195	1	394	0.0025	22	c.48 others(33): Show c.4858_*4859insTATATATATATATATTTATATA	MCM6	ENSG00000076003.5	transcript	ENST00000264156.3	protein_coding		3649		chr2	TogoVar
MCMDC2_chr8_66865771_66927048	66902711	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0037 a0004c0004t0003g0037	1	202	0.0050	22	c.176 others(41): Show c.1769+1364_1769+1365insAAAAAAAAAAAAAATATATATA	MCMDC2	ENSG00000178460.18	transcript	ENST00000422365.7	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCMDC2_chr8_66865771_66927048	66902711	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0039 a0004c0004t0003g0039	1	202	0.0050	22	c.176 others(41): Show c.1769+1364_1769+1365insAAAAAAAAAAAATATATATATA	MCMDC2	ENSG00000178460.18	transcript	ENST00000422365.7	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA19087.hp1 NA18964.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0045 a0001c0001t0001g0016 a0001c0001t0001g0045	2	414	0.0048	22	c.-41 others(33): Show c.-4194_-4193insAAAGAAAGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAAGAA others(15): Show GAGAAGAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	414	0.0024	22	c.-41 others(33): Show c.-4194_-4193insAGAAGAAGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAAA others(15): Show GAGAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01943.hp1 HG02135.hp2 others(9): Show HG01346.hp1 HG01943.hp1 HG02135.hp2 HG03491.hp2 HG03492.hp2 HG03834.hp2 HG04228.hp1 NA18951.hp1 NA18951.hp2 NA18960.hp2 NA18989.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0034	12	414	0.0290	22	c.-41 others(33): Show c.-4194_-4193insAGAGAAAGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAGA others(15): Show GAGAGAGAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	414	0.0024	22	c.-41 others(33): Show c.-4194_-4193insAGAGAGAGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN1_chr19_7517624_7539009	7518599	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0134	3	414	0.0073	22	c.-41 others(33): Show c.-4152_-4151insAAAGAAAGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4024		chr19	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG03491.hp2 HG03492.hp2 others(6): Show HG01516.hp1 HG03491.hp2 HG03492.hp2 NA18970.hp1 NA18995.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011	a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0187 others(4): Show a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0187 a0001c0001t0003g0259 a0001c0001t0003g0266 a0001c0001t0004g0159 a0001c0001t0011g0331	9	350	0.0257	22	c.42 others(33): Show c.4246_*4247insTATATATATATATATATACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	350	0.0029	22	c.42 others(33): Show c.4222_*4223insAAAAAATATATATATATATATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	350	0.0029	22	c.42 others(33): Show c.4222_*4223insAAAAAAAATATATATATATATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84996393	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG04115.hp2 HG02257.hp1 HG04115.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0007 a0004c0004t0001 a0001c0001t0007 a0004c0004t0001	a0001c0001t0007g0051 a0004c0004t0001g0039 a0001c0001t0007g0051 a0004c0004t0001g0039	2	350	0.0057	22	c.77+ others(35): Show c.77+381_77+402dupATATATATATATATATATATAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MCPH1_chr8_6401627_6653508	6505501	A A	ACATATAG others(15): Show ACATATAGAATATATATATTCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0032 a0032	a0032c0040 a0032c0040	a0032c0040t0029 a0032c0040t0029	a0032c0040t0029g0235 a0032c0040t0029g0235	1	262	0.0038	22	c.221 others(41): Show c.2214+5572_2214+5573insCATATAGAATATATATATTCTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13			chr8	TogoVar
MCPH1_chr8_6401627_6653508	6559230	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01167.hp1 others(2): Show HG00621.hp1 HG00621.hp2 HG01167.hp1 HG01169.hp2 HG02886.hp1	a0001 a0006 a0014 a0001 a0006 a0014	a0001c0001 a0006c0012 a0014c0025 a0001c0001 a0006c0012 a0014c0025	a0001c0001t0001 a0006c0012t0009 a0014c0025t0003 a0001c0001t0001 a0006c0012t0009 a0014c0025t0003	a0001c0001t0001g0074 a0006c0012t0009g0055 a0006c0012t0009g0056 others(2): Show a0001c0001t0001g0074 a0006c0012t0009g0055 a0006c0012t0009g0056 a0006c0012t0009g0057 a0014c0025t0003g0086	5	262	0.0191	22	c.221 others(43): Show c.2214+59311_2214+59332dupCACACACACACACACACACACA	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCRIP2_chr16_636828_653474	637089	G G	GGGGCTGG others(15): Show GGGGCTGGGGAGAGGGCGGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG04115.hp1 HG02738.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0061 a0001c0001t0001g0007 a0001c0001t0001g0061	2	420	0.0048	22	c.-49 others(33): Show c.-4903_-4902insGGGCTGGGGAGAGGGCGGGGCT	MCRIP2	ENSG00000172366.20	transcript	ENST00000307650.9	protein_coding		4738		chr16	TogoVar
MCTP1_chr5_94698690_95290094	94752108	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02559.hp2 HG03098.hp1 HG00099.hp2 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0039 a0001c0001t0003 a0001c0001t0004 a0001c0001t0039	a0001c0001t0003g0078 a0001c0001t0004g0005 a0001c0001t0039g0029 a0001c0001t0003g0078 a0001c0001t0004g0005 a0001c0001t0039g0029	3	98	0.0306	22	c.261 others(43): Show c.2610+26980_2610+27001dupATATATATATATATATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	19/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94947555	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0004 a0001c0001t0020g0004	1	98	0.0102	22	c.982 others(39): Show c.982-5150_982-5129dupATATATATATATATATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94947577	T T	TATATATA others(15): Show TATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA20300.hp1 HG03927.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0006 a0001c0001t0019 a0001c0002t0006	a0001c0001t0019g0002 a0001c0002t0006g0023 a0001c0001t0019g0002 a0001c0002t0006g0023	2	98	0.0204	22	c.982 others(39): Show c.982-5151_982-5150insCTATATATATATATATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94953834	T T	TATATATA others(15): Show TATATATACAAATATATATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0030 a0001c0007t0030	a0001c0007t0030g0090 a0001c0007t0030g0090	1	98	0.0102	22	c.839 others(37): Show c.839-474_839-473insGTATATATATATTTGTATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	2/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94953850	T T	TATATATA others(15): Show TATATATATGCATATATATACAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0061 a0001c0011t0003g0061	1	98	0.0102	22	c.839 others(37): Show c.839-511_839-490dupTTGTATATATATGCATATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	2/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94954025	T T	TATATATA others(15): Show TATATATACAAATATATATATGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0036 a0001c0001t0027g0036	1	98	0.0102	22	c.839 others(37): Show c.839-686_839-665dupGCATATATATATTTGTATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	2/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95072081	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02055.hp2 HG01243.hp2 HG02055.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0020 a0001c0002t0001 a0001c0006t0014 a0001c0001t0020 a0001c0002t0001 a0001c0006t0014	a0001c0001t0020g0004 a0001c0002t0001g0031 a0001c0006t0014g0054 a0001c0001t0020g0004 a0001c0002t0001g0031 a0001c0006t0014g0054	3	98	0.0306	22	c.721 others(41): Show c.721-54619_721-54598dupCACACACACACACACACACACA	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95257796	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19043.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0002 a0001c0012t0038 a0001c0001t0002 a0001c0012t0038	a0001c0001t0002g0032 a0001c0012t0038g0033 a0001c0001t0002g0032 a0001c0012t0038g0033	2	98	0.0204	22	c.720 others(41): Show c.720+26038_720+26059dupGTGTGTGTGTGTGTGTGTGTGT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95257796	T T	TACACACA others(15): Show TACACACATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG03130.hp2 HG01884.hp1 HG02055.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0010 a0001c0002 a0001c0003 a0001c0010	a0001c0002t0001 a0001c0003t0022 a0001c0010t0002 a0001c0002t0001 a0001c0003t0022 a0001c0010t0002	a0001c0002t0001g0031 a0001c0003t0022g0003 a0001c0010t0002g0098 a0001c0002t0001g0031 a0001c0003t0022g0003 a0001c0010t0002g0098	3	98	0.0306	22	c.720 others(41): Show c.720+26059_720+26060insGTGTGTGTGTGTGTATGTGTGT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94243133	G G	GTGTGTAT others(15): Show GTGTGTATATAGGTATCTACGGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03209.hp2 HG03486.hp2 HG00735.hp2 HG03209.hp2 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0014 a0001c0001 a0001c0002 a0005c0014	a0001c0001t0001 a0001c0002t0001 a0005c0014t0045 a0001c0001t0001 a0001c0002t0001 a0005c0014t0045	a0001c0001t0001g0177 a0001c0002t0001g0175 a0005c0014t0045g0176 a0001c0001t0001g0177 a0001c0002t0001g0175 a0005c0014t0045g0176	3	276	0.0109	22	c.-66 others(41): Show c.-66+11473_-66+11474insTATATAGGTATCTACGGCTGTG	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94244087	T T	TATGTGTA others(15): Show TATGTGTATATGTTTATATACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0037 a0001c0013t0037	a0001c0013t0037g0224 a0001c0013t0037g0224	1	276	0.0036	22	c.-66 others(41): Show c.-66+12427_-66+12428insGTATATGTTTATATACACATGT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94303103	A A	ATATATAT others(15): Show ATATATATATAGTTTATATAGTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0100 a0001c0001t0012g0100	1	276	0.0036	22	c.465 others(39): Show c.465+4383_465+4384insGTTTATATAGTTTATATATATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94390062	A A	ATATATGT others(15): Show ATATATGTATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19068.hp2 NA19084.hp1 NA18999.hp2 NA19068.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0003 a0001c0002t0003 a0001c0015t0003 a0001c0001t0003 a0001c0002t0003 a0001c0015t0003	a0001c0001t0003g0016 a0001c0002t0003g0164 a0001c0015t0003g0155 a0001c0001t0003g0016 a0001c0002t0003g0164 a0001c0015t0003g0155	3	276	0.0109	22	c.178 others(41): Show c.1788+4542_1788+4543insGTATATATATATATATGTATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94390064	A A	ATATATAT others(15): Show ATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0088 a0001c0006t0009g0088	1	276	0.0036	22	c.178 others(41): Show c.1788+4559_1788+4560insCGTATATATATATATATATATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94485437	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01884.hp1 NA19240.hp2 HG01496.hp2 HG01884.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0018 a0001c0001t0001 a0001c0001t0011 a0001c0001t0018	a0001c0001t0001g0226 a0001c0001t0011g0050 a0001c0001t0018g0111 a0001c0001t0001g0226 a0001c0001t0011g0050 a0001c0001t0018g0111	3	276	0.0109	22	c.64 others(33): Show c.6403_*6404insCACACACACACACACACACACA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding		1486		chr15	TogoVar
MCTP2_chr15_94226561_94488952	94485437	G G	GCGCACAC others(15): Show GCGCACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0034 a0003c0009t0034	a0003c0009t0034g0102 a0003c0009t0034g0102	1	276	0.0036	22	c.64 others(33): Show c.6403_*6404insCGCACACACACACACACACACA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding		1486		chr15	TogoVar
MCTP2_chr15_94226561_94488952	94485460	C C	CACACACA others(15): Show CACACACACACACACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 NA19043.hp2 HG03516.hp1 NA19043.hp2	a0001 a0012 a0001 a0012	a0001c0002 a0012c0021 a0001c0002 a0012c0021	a0001c0002t0013 a0012c0021t0013 a0001c0002t0013 a0012c0021t0013	a0001c0002t0013g0061 a0012c0021t0013g0091 a0001c0002t0013g0061 a0012c0021t0013g0091	2	276	0.0073	22	c.64 others(33): Show c.6426_*6427insACACACACACACACACACACAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding		1509		chr15	TogoVar
MCTP2_chr15_94226561_94488952	94486183	A A	ACAGAAAA others(15): Show ACAGAAAAACAATACAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG02818.hp2 others(1): Show HG02109.hp2 HG02717.hp2 HG02818.hp2 HG03453.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0011 a0001c0001 a0001c0002 a0007c0011	a0001c0001t0014 a0001c0001t0054 a0001c0002t0014 others(1): Show a0001c0001t0014 a0001c0001t0054 a0001c0002t0014 a0007c0011t0014	a0001c0001t0014g0076 a0001c0001t0054g0159 a0001c0002t0014g0129 others(1): Show a0001c0001t0014g0076 a0001c0001t0054g0159 a0001c0002t0014g0129 a0007c0011t0014g0233	4	276	0.0145	22	c.71 others(33): Show c.7149_*7150insCAGAAAAACAATACAAATAAAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding		2232		chr15	TogoVar
MCU_chr10_72687143_72892694	72714345	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	210	0.0048	22	c.150 others(41): Show c.150+22046_150+22067dupTTTTTTTTTTTTTTTTTTTTTT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCU_chr10_72687143_72892694	72780511	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01243.hp2 HG01981.hp1 others(14): Show HG01071.hp1 HG01243.hp2 HG01981.hp1 HG02080.hp1 HG02896.hp2 HG03017.hp1 HG03041.hp2 HG04115.hp2 NA18906.hp2 NA18977.hp2 NA18981.hp1 NA18988.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0037 others(14): Show a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0143 a0001c0001t0001g0205	17	210	0.0810	22	c.151 others(41): Show c.151-53829_151-53808dupGTGTGTGTGTGTGTGTGTGTGT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCU_chr10_72687143_72892694	72805155	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19084.hp1 HG00438.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0193 a0001c0001t0001g0101 a0001c0001t0001g0193	2	210	0.0095	22	c.151 others(41): Show c.151-29199_151-29198insTTCTTTCTTTCTTTCTTTTTCT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCU_chr10_72687143_72892694	72832932	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02559.hp2 HG02572.hp1 others(3): Show HG00735.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG03579.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0003c0004t0001 a0001c0001t0001 a0001c0002t0001 a0003c0004t0001	a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0001g0192 others(3): Show a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0001g0192 a0001c0002t0001g0003 a0001c0002t0001g0005 a0003c0004t0001g0149	6	210	0.0286	22	c.151 others(39): Show c.151-1426_151-1425insGTGTGTGTGTGTGTGTGTGTGT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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