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
MCU_chr10_72687143_72892694	72805155	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	210	0.0048	30	c.151 others(49): Show c.151-29199_151-29198insTTCTTTCTTTCTTTCTTTCTTTCTTT TTCT	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(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp2 HG02647.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0002 a0001c0002t0001g0011	2	210	0.0095	30	c.151 others(47): Show c.151-1426_151-1425insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDFI_chr6_41633468_41659244	41656192	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02895.hp1 others(1): Show HG02622.hp1 HG02647.hp2 HG02895.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0235 a0001c0001t0003g0321 a0001c0001t0003g0322 others(1): Show a0001c0001t0001g0235 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0008g0031	4	462	0.0087	30	c.26 others(41): Show c.2617_*2618insCACACACACACACACACACACACACACACT	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1949		chr6	TogoVar
MDFI_chr6_41633468_41659244	41656194	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	462	0.0022	30	c.26 others(41): Show c.2619_*2620insCACACACACACACACACACACACACACACT	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1951		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37701226	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0055 a0001c0001t0013g0055	1	402	0.0025	30	c.-44 others(41): Show c.-4416_-4415insAAAAAAAAAATATATATATATATATATATA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		3344		chr6	TogoVar
MDGA2_chr14_46835092_47680605	47079727	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	120	0.0083	30	c.119 others(51): Show c.1195+17126_1195+17127insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	6/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47224283	T T	TGATATAG others(23): Show TGATATAGATATAGATATAGATATAGATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01169.hp2 others(3): Show HG00323.hp2 HG01167.hp1 HG01169.hp2 HG01884.hp1 HG01978.hp1 HG02055.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0003c0003t0002	a0001c0001t0001g0065 a0001c0001t0002g0080 a0001c0001t0003g0076 others(3): Show a0001c0001t0001g0065 a0001c0001t0002g0080 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0006g0048 a0003c0003t0002g0036	6	120	0.0500	30	c.421 others(47): Show c.421-6118_421-6089dupTATATCTATATCTATATCTATATCTATA TC	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47278119	G G	GAATGATG others(23): Show GAATGATGAAGAGTCAAGATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0120 a0001c0001t0029g0120	1	120	0.0083	30	c.420 others(49): Show c.420+23262_420+23291dupTTTATTTATTTATCTTGACTCTTCAT CATT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335732	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	120	0.0083	30	c.281 others(49): Show c.281-34183_281-34182insTATATATATATATATATATATATATA TATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(23): Show TATATATATATATATATATATACATACATAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0029 a0001c0001t0020g0029	1	120	0.0083	30	c.281 others(49): Show c.281-34196_281-34195insGTATGTATGTATATATATATATATAT ATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335747	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02698.hp2 HG03516.hp1 others(1): Show HG01071.hp1 HG02698.hp2 HG03516.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0063 a0001c0001t0002g0040 a0001c0001t0002g0075 others(1): Show a0001c0001t0001g0063 a0001c0001t0002g0040 a0001c0001t0002g0075 a0001c0001t0003g0049	4	120	0.0333	30	c.281 others(49): Show c.281-34198_281-34197insGTGTATATATATATATATATATATAT ATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	120	0.0083	30	c.280 others(51): Show c.280+133976_280+133977insTATATATATATATATATATATACA CACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18993.hp1 HG01978.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0065 a0001c0001t0008g0018 a0001c0001t0001g0065 a0001c0001t0008g0018	2	120	0.0167	30	c.280 others(51): Show c.280+133976_280+133977insTATATATATATATATATATACACA CACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	120	0.0083	30	c.280 others(51): Show c.280+133976_280+133977insTATATATATATATATATACACACA CACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47609428	C C	CATATATA others(23): Show CATATATATATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0019	1	120	0.0083	30	c.280 others(49): Show c.280+65088_280+65089insATATATATATATATGTATATATATAT ATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDM2_chr12_68803177_68850544	68847196	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00639.hp2 others(17): Show HG00280.hp1 HG00408.hp2 HG00639.hp2 HG01192.hp1 HG01496.hp2 HG01993.hp1 HG02148.hp2 HG02300.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02976.hp1 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03579.hp2 NA19057.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0026 a0001c0001t0036 a0001c0001t0071 a0001c0002t0040 a0001c0003t0025	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0255 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0293 a0001c0001t0001g0312 a0001c0001t0009g0025 a0001c0001t0009g0137 a0001c0001t0009g0141 a0001c0001t0009g0145 a0001c0001t0014g0201 a0001c0001t0016g0280 a0001c0001t0026g0025 a0001c0001t0036g0026 a0001c0001t0071g0148 a0001c0002t0040g0031 a0001c0003t0025g0135	20	388	0.0516	30	c.73 others(41): Show c.7347_*7348insTATATATATATATATATATATATATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1653		chr12	TogoVar
MDM2_chr12_68803177_68850544	68847210	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03225.hp2 HG03139.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0027 a0001c0001t0015g0160 a0001c0001t0015g0027 a0001c0001t0015g0160	2	388	0.0052	30	c.73 others(41): Show c.7361_*7362insTATATATATATATATATATATATATATATG	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1667		chr12	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	290	0.0035	30	c.139 others(49): Show c.13956+748_13956+749insAAAAAAAAAAAATATATATATATATA TATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18967.hp2 HG02074.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0266 a0001c0001t0001g0209 a0001c0001t0001g0266	2	290	0.0069	30	c.139 others(49): Show c.13956+748_13956+749insAAAAAAAAAAAAAAAATATATATATA TATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	290	0.0035	30	c.139 others(49): Show c.13956+748_13956+749insAAAAAAAAAAAAAAAAAATATATATA TATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89734690	C C	CGAGAGAG others(23): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	290	0.0035	30	c.472 others(49): Show c.4724-1916_4724-1915insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	33/101			chr6	TogoVar
MDP1_chr14_24208943_24221066	24209213	A A	AAAGCTAC others(23): Show AAAGCTACTTGCTCCTTCCATTCCAAGTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	404	0.0025	30	c.48 others(41): Show c.4810_*4811insGCTACTTGGAATGGAAGGAGCAAGTAGCTT	MDP1	ENSG00000213920.9	transcript	ENST00000288087.12	protein_coding		4729		chr14	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	272	0.0037	30	c.363 others(47): Show c.363-5797_363-5796insTATATATATATATATATAGAGAGAGAGA GA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0228 a0001c0001t0010g0228	1	272	0.0037	30	c.363 others(47): Show c.363-5797_363-5796insTATATATATAGAGAGAGAGAGAGAGAGA GA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME3_chr11_86436108_86677616	86475874	T T	TATATATA others(23): Show TATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	320	0.0031	30	c.810 others(49): Show c.810-10675_810-10674insCTCTCTCTCTCTCTCTATATATATAT ATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	7/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86475874	T T	TATATATA others(23): Show TATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	320	0.0031	30	c.810 others(49): Show c.810-10675_810-10674insCTCTCTCTCTATATATATATATATAT ATAT	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	7/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560746	G G	GTATGTGT others(23): Show GTATGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03516.hp1 NA20129.hp1 HG02083.hp1 HG03516.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0007 a0001c0002 a0001c0006 a0002c0007	a0001c0002t0002 a0001c0006t0001 a0002c0007t0001 a0001c0002t0002 a0001c0006t0001 a0002c0007t0001	a0001c0002t0002g0258 a0001c0006t0001g0048 a0002c0007t0001g0180 a0001c0002t0002g0258 a0001c0006t0001g0048 a0002c0007t0001g0180	3	320	0.0094	30	c.184 others(45): Show c.184-924_184-923insTATATATATATATATATATATATACACATA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0045 a0002c0007t0001g0045	1	320	0.0031	30	c.184 others(45): Show c.184-926_184-925insTATATATATATATATATATATATATATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATGT others(23): Show GTGTATGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01109.hp1 HG01361.hp2 others(3): Show HG00423.hp2 HG01109.hp1 HG01361.hp2 HG02132.hp2 HG02738.hp2 NA18949.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0015 a0002c0005 a0001c0002 a0001c0015 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0015t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0015t0002 a0002c0005t0002	a0001c0002t0001g0064 a0001c0002t0002g0268 a0001c0002t0002g0269 others(3): Show a0001c0002t0001g0064 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0015t0002g0229 a0002c0005t0002g0216 a0002c0005t0002g0248	6	320	0.0188	30	c.184 others(45): Show c.184-926_184-925insTATATATATATATATATATATACACATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MECOM_chr3_169078507_169668712	169180793	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0110 a0001c0001t0008g0110	1	160	0.0063	30	c.376 others(49): Show c.376-36962_376-36961insTATATATATATATATATATATATATA TATA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169180794	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03704.hp2 NA18906.hp2 HG01243.hp2 HG03704.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0051 a0002c0002t0013 a0001c0001t0001 a0001c0001t0051 a0002c0002t0013	a0001c0001t0001g0053 a0001c0001t0051g0156 a0002c0002t0013g0047 a0001c0001t0001g0053 a0001c0001t0051g0156 a0002c0002t0013g0047	3	160	0.0188	30	c.376 others(49): Show c.376-36963_376-36962insATATATATATATATATATATATATAT ATAT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169433639	G G	GAGAAAGA others(23): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0114 a0001c0001t0008g0114	1	160	0.0063	30	c.38- others(47): Show c.38-52116_38-52115insTTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169472580	G G	GAGGAGAG others(23): Show GAGGAGAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA19002.hp2 NA19060.hp2 HG01433.hp2 NA19002.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0019 a0002c0002t0003 a0001c0001t0004 a0001c0001t0019 a0002c0002t0003	a0001c0001t0004g0067 a0001c0001t0019g0013 a0002c0002t0003g0038 a0001c0001t0004g0067 a0001c0001t0019g0013 a0002c0002t0003g0038	3	160	0.0188	30	c.38- others(47): Show c.38-91057_38-91056insTTCCTTTCCTTTCCTTTCCTTTCCTCTC CT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED10_chr5_6366874_6383547	6373445	A A	AAGGAAAG others(23): Show AAGGAAAGCTTTAGACTTGACCAGCATTCTC	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	420	0.0024	30	c.310 others(45): Show c.310-845_310-844insGAGAATGCTGGTCAAGTCTAAAGCTTTCCT	MED10	ENSG00000133398.4	transcript	ENST00000255764.4	protein_coding	3/3			chr5	TogoVar
MED12L_chr3_151080664_151441653	151299356	C C	CTTTCTTT others(23): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02809.hp2 HG03130.hp2 others(6): Show HG01943.hp2 HG02809.hp2 HG03130.hp2 HG03239.hp1 HG04184.hp1 NA19076.hp1 NA19081.hp1 NA20300.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0003c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0001c0002t0006 a0001c0002t0016 a0001c0013t0024 a0003c0006t0006 a0003c0006t0015	a0001c0001t0003g0237 a0001c0001t0004g0172 a0001c0001t0007g0159 others(6): Show a0001c0001t0003g0237 a0001c0001t0004g0172 a0001c0001t0007g0159 a0001c0001t0019g0193 a0001c0002t0006g0249 a0001c0002t0016g0051 a0001c0013t0024g0004 a0003c0006t0006g0156 a0003c0006t0015g0151	9	280	0.0321	30	c.225 others(51): Show c.2251-50688_2251-50659dupTTTTCTTTTCTTTTCTTTTCTTTT CTTTTC	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151309141	G G	GCACACAC others(23): Show GCACACACACACACACACACACACACACGCA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01496.hp2 HG02572.hp2 others(2): Show HG01255.hp1 HG01496.hp2 HG02572.hp2 HG02717.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0009 a0001c0009t0010 a0001c0009t0012 others(1): Show a0001c0001t0009 a0001c0009t0010 a0001c0009t0012 a0001c0009t0037	a0001c0001t0009g0134 a0001c0009t0010g0238 a0001c0009t0012g0175 others(2): Show a0001c0001t0009g0134 a0001c0009t0010g0238 a0001c0009t0012g0175 a0001c0009t0012g0176 a0001c0009t0037g0174	5	280	0.0179	30	c.225 others(51): Show c.2251-40900_2251-40899insCACACACACGCACACACACACACA CACACA	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED13L_chr12_115953576_116282693	116038809	T T	TGCAGCCT others(23): Show TGCAGCCTTTCTTATAGAACGTTATTTCCCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	254	0.0039	30	c.480 others(49): Show c.480-16238_480-16209dupGGGGAAATAACGTTCTATAAGAAAGG CTGC	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116148051	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	254	0.0039	30	c.311 others(49): Show c.311-36540_311-36539insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116210551	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18962.hp2 NA18990.hp1 HG02083.hp1 NA18962.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0227 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0227	3	254	0.0118	30	c.310 others(49): Show c.310+26887_310+26916dupTATATATATATATATATATATATATA TATA	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED16_chr19_862963_898187	878506	A A	AGCCCCGG others(23): Show AGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0006 a0002c0031t0001g0006	1	56	0.0179	30	c.135 others(49): Show c.1354-1327_1354-1326insCGGGGCCGGGGCCGGGGCCGGGGCCG GGGC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	8/15			chr19	TogoVar
MED19_chr11_57698710_57717215	57702421	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	380	0.0026	30	c.16 others(41): Show c.1616_*1617insATATATATATATATATATATATATATATAT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1288		chr11	TogoVar
MED19_chr11_57698710_57717215	57702425	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	380	0.0026	30	c.16 others(41): Show c.1612_*1613insATATATATATATATATATATATATATATAT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1284		chr11	TogoVar
MED20_chr6_41900354_41926139	41915789	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01358.hp2 HG01168.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0111 a0001c0001t0009g0097 a0001c0001t0002g0111 a0001c0001t0009g0097	2	444	0.0045	30	c.169 others(45): Show c.169+995_169+996insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MED20	ENSG00000124641.16	transcript	ENST00000265350.9	protein_coding	2/3			chr6	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01099.hp2 NA18940.hp2 HG00609.hp2 HG01099.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0247 a0001c0001t0001g0269 a0001c0001t0001g0046 a0001c0001t0001g0247 a0001c0001t0001g0269	3	274	0.0110	30	c.480 others(49): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CACAAAAA others(23): Show CACAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	274	0.0037	30	c.480 others(49): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED27_chr9_131855112_132084867	132070601	A A	ACCAGGGG others(23): Show ACCAGGGGGGAAGGGGGGGACTTTCACCACT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	274	0.0037	30	c.348 others(47): Show c.348+6840_348+6841insAGTGGTGAAAGTCCCCCCCTTCCCCCCT GG	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	2/7			chr9	TogoVar
MED28_chr4_17609641_17639105	17628255	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0155 a0001c0001t0155	a0001c0001t0155g0027 a0001c0001t0155g0027	1	328	0.0031	30	c.44 others(41): Show c.4464_*4493dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding	4/4	4494	INFO_REALIGN_3_PRIME	chr4	TogoVar
MED30_chr8_117515713_117545262	117540699	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG03654.hp2 HG02293.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0048 a0001c0001t0002g0051	2	348	0.0058	30	c.72 others(39): Show c.721_*722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MED30	ENSG00000164758.7	transcript	ENST00000297347.7	protein_coding		438		chr8	TogoVar
MEF2B_chr19_19140567_19175263	19174385	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	404	0.0025	30	c.-42 others(41): Show c.-4211_-4210insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MEF2B	ENSG00000213999.17	transcript	ENST00000424583.7	protein_coding		4123		chr19	TogoVar
MEGF10_chr5_127285796_127466222	127455723	G G	GTATTTTA others(23): Show GTATTTTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03209.hp1 HG03041.hp2 HG03209.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0019 a0002c0016t0019	a0002c0016t0019g0232 a0002c0016t0019g0233 a0002c0016t0019g0232 a0002c0016t0019g0233	2	268	0.0075	30	c.323 others(47): Show c.3232+144_3232+145insTTTATTTTATTTTATTTTATTTTATTTT AT	MEGF10	ENSG00000145794.17	transcript	ENST00000503335.7	protein_coding	24/24		INFO_REALIGN_3_PRIME	chr5	TogoVar

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