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
MAST4_chr5_66591393_67174593	67081085	T T	TATATAAT others(27): Show TATATAATATAATATATAATTGTATATATTATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02027.hp2 HG02280.hp1 others(3): Show HG01099.hp1 HG02027.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02809.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0004c0011 a0001c0002 a0001c0003 a0004c0011	a0001c0002t0001 a0001c0002t0005 a0001c0002t0020 others(3): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0020 a0001c0003t0004 a0001c0003t0011 a0004c0011t0014	a0001c0002t0001g0069 a0001c0002t0005g0054 a0001c0002t0020g0031 others(3): Show a0001c0002t0001g0069 a0001c0002t0005g0054 a0001c0002t0020g0031 a0001c0003t0004g0043 a0001c0003t0011g0087 a0004c0011t0014g0066	6	97	0.0619	34	c.764 others(51): Show c.764-9067_764-9066insATATATAATTGTATATATTATATAATAT AATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MATN2_chr8_97864064_98041724	97988189	T T	TATATATA others(27): Show TATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0001 a0001c0063t0001	a0001c0063t0001g0238 a0001c0063t0001g0238	1	149	0.0067	34	c.108 others(53): Show c.1082-6290_1082-6289insTATATATATATATATATATATATACA CACACACA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	98037386	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0014 a0014	a0014c0036 a0014c0036	a0014c0036t0002 a0014c0036t0002	a0014c0036t0002g0111 a0014c0036t0002g0111	1	222	0.0045	34	c.16 others(45): Show c.1674_*1675insTGTGTGTGTGTGTATATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		663		chr8	TogoVar
MATN2_chr8_97864064_98041724	98037392	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	99	0.0101	34	c.16 others(45): Show c.1680_*1681insTATATATATATATATATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		669		chr8	TogoVar
MBD2_chr18_54146606_54229669	54226998	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG01167.hp1 HG01069.hp2 HG01074.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0033 a0001c0001t0008g0005 a0001c0001t0008g0033	3	125	0.0240	34	c.-24 others(45): Show c.-2440_-2439insATATATATATATATATATATATATATATATATAT	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding		2330		chr18	TogoVar
MBD3L4_chr19_7032749_7045179	7035804	A A	ATATATAA others(27): Show ATATATAATATAATTATATAACATATAAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	239	0.0042	34	c.20 others(45): Show c.2056_*2057insATATAATTTATATGTTATATAATTATATTATATA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1944		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035842	A A	ATATATAA others(27): Show ATATATAATATAATTATATAACATATAAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01256.hp1 HG01978.hp1 others(3): Show HG01192.hp1 HG01256.hp1 HG01978.hp1 HG02056.hp1 HG02132.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	237	0.0253	34	c.20 others(45): Show c.2018_*2019insATATAATTTATATGTTATATAATTATATTATATA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1906		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035804	A A	ATATATAA others(27): Show ATATATAATATAATTATATAACATATAAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02257.hp2 NA18522.hp2 HG02155.hp2 HG02257.hp2 NA18522.hp2	a0004 a0011 a0004 a0011	a0004c0004 a0011c0016 a0004c0004 a0011c0016	a0004c0004t0001 a0011c0016t0001 a0004c0004t0001 a0011c0016t0001	a0004c0004t0001g0005 a0011c0016t0001g0031 a0004c0004t0001g0005 a0011c0016t0001g0031	3	230	0.0130	34	c.29 others(45): Show c.2910_*2911insTATATAATATAATTATATAACATATAAATTATAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2794		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035842	A A	ATATATAA others(27): Show ATATATAATATAATTATATAACATATAAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01256.hp1 HG01978.hp1 others(6): Show HG00423.hp2 HG01256.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02132.hp2 NA18951.hp1 NA18962.hp2 NA19080.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0005 a0004c0004 a0005c0005	a0004c0004t0001 a0005c0005t0001 a0004c0004t0001 a0005c0005t0001	a0004c0004t0001g0005 a0005c0005t0001g0005 a0005c0005t0001g0033 a0004c0004t0001g0005 a0005c0005t0001g0005 a0005c0005t0001g0033	9	229	0.0393	34	c.29 others(45): Show c.2948_*2949insTATATAATATAATTATATAACATATAAATTATAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2832		chr19	TogoVar
MBIP_chr14_36293564_36325637	36294279	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	32	0.0313	34	c.48 others(45): Show c.4803_*4804insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MBIP	ENSG00000151332.20	transcript	ENST00000416007.9	protein_coding		4284		chr14	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02717.hp1 NA18944.hp1 others(1): Show HG00609.hp1 HG02717.hp1 NA18944.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0164 a0001c0001t0001g0183 a0001c0001t0002g0161 others(1): Show a0001c0001t0001g0164 a0001c0001t0001g0183 a0001c0001t0002g0161 a0001c0001t0002g0165	4	19	0.2105	34	c.174 others(53): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132396797	C C	CATATATA others(27): Show CATATATATATTCATATATACATATATATATTCAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01070.hp2 HG01358.hp1 others(14): Show HG00621.hp1 HG01070.hp2 HG01358.hp1 HG01884.hp1 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 NA18522.hp1 NA19057.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 a0001c0001t0035	a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 others(14): Show a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0096 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0004g0015 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0006g0184 a0001c0001t0018g0093 a0001c0001t0035g0059	17	153	0.1111	34	c.343 others(51): Show c.343-4464_343-4463insATGAATATATATATGTATATATGAATAT ATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396921	T T	TATTCATA others(27): Show TATTCATATATATATTCATATATATTCATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG01891.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0033 a0001c0001t0031 a0001c0001t0033	a0001c0001t0031g0023 a0001c0001t0033g0002 a0001c0001t0031g0023 a0001c0001t0033g0002	2	147	0.0136	34	c.343 others(51): Show c.343-4588_343-4587insGTATATATGAATATATATGAATATATAT ATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT7_chr19_54168415_54194580	54171050	C C	CATATATA others(27): Show CATATATATACACATATATATACATATATATGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00673.hp2 HG01928.hp2 others(6): Show HG00609.hp1 HG00673.hp2 HG01928.hp2 HG02129.hp1 HG02970.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0001c0001t0001 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0338 a0001c0002t0001g0067 a0001c0002t0001g0075 others(6): Show a0001c0001t0001g0338 a0001c0002t0001g0067 a0001c0002t0001g0075 a0001c0002t0001g0160 a0001c0002t0001g0255 a0001c0002t0001g0273 a0001c0002t0001g0337 a0002c0004t0001g0066 a0002c0004t0001g0258	9	371	0.0243	34	c.29 others(45): Show c.2960_*2993dupACACATATATATGTATATATATGTGTATATATAT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		2364		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54171116	C C	CATATATG others(27): Show CATATATGCGTATATATATACGCGTATATACGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0102 a0001c0010t0001g0102	1	137	0.0073	34	c.29 others(45): Show c.2927_*2928insACGCGTATATACGCGTATATATATACGCATATAT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		2298		chr19	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 NA18971.hp2 HG00140.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0020 a0001c0001t0010 a0001c0001t0020	a0001c0001t0010g0208 a0001c0001t0020g0254 a0001c0001t0010g0208 a0001c0001t0020g0254	2	138	0.0145	34	c.41 others(45): Show c.4153_*4154insATATATATATATATATATATATATATTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(27): Show TTATATATATATATATATATATATTTATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01943.hp1 NA18966.hp1 HG01496.hp1 HG01943.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0301 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0301	3	253	0.0119	34	c.10 others(45): Show c.1093_*1094insTATATATATAAATATATATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179488	A A	ATATATAT others(27): Show ATATATATATATTTTTATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	324	0.0031	34	c.10 others(45): Show c.1087_*1088insAATATATATATATATATATAAAAATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1087		chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21862933	C C	CATATATA others(27): Show CATATATATATAAACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	53	0.0189	34	c.671 others(51): Show c.671-5523_671-5522insAACATATATATATATATATATATATATA TATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	39	0.0256	34	c.-25 others(45): Show c.-2544_-2543insAAAATATATATATATATATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	39	0.0256	34	c.-25 others(45): Show c.-2544_-2543insAAAAAAAAAAAAAATATATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00280.hp2 HG00733.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	2	79	0.0253	34	c.41- others(47): Show c.41-669_41-668insAAAAAAAAAAAATATATATATATATATATATA TA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
MCF2L2_chr3_183173041_183433619	183269230	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0167 a0001c0001t0023g0167	1	78	0.0128	34	c.186 others(53): Show c.1862+7641_1862+7642insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(27): Show GCGCGCGCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0133 a0004c0004t0001g0133	1	49	0.0204	34	c.130 others(53): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG TGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(27): Show GCGCGCGCGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04184.hp1 NA19240.hp2 HG04115.hp1 HG04184.hp1 NA19240.hp2	a0001 a0009 a0026 a0001 a0009 a0026	a0001c0001 a0009c0032 a0026c0019 a0001c0001 a0009c0032 a0026c0019	a0001c0001t0001 a0009c0032t0011 a0026c0019t0001 a0001c0001t0001 a0009c0032t0011 a0026c0019t0001	a0001c0001t0001g0076 a0009c0032t0011g0152 a0026c0019t0001g0032 a0001c0001t0001g0076 a0009c0032t0011g0152 a0026c0019t0001g0032	3	51	0.0588	34	c.130 others(53): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGTG CGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(27): Show GCGCGCGCGCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0127 a0009c0010t0002g0127	1	49	0.0204	34	c.130 others(53): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGTGTGCG CGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183298765	G G	GCGCGCGC others(27): Show GCGCGCGCGCGCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0088 a0011c0011t0001g0088	1	49	0.0204	34	c.130 others(53): Show c.1305+1239_1305+1240insTGTGTGTGTGTGTGTGTGTGCGCGCG CGCGCGCG	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	11/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	112980628	G G	GCCGCCTT others(27): Show GCCGCCTTCCCCTTTCCCCCGCCTTCCCCTTTCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp2 HG01109.hp1 others(32): Show HG00323.hp1 HG00733.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02602.hp1 HG02738.hp1 HG03209.hp2 HG03471.hp1 HG03688.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18946.hp1 NA18950.hp1 NA19085.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0016 a0003c0009 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0027 a0001c0002t0002 a0001c0002t0015 a0001c0003t0001 a0001c0003t0021 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0005t0030 a0001c0006t0002 a0001c0006t0031 a0001c0012t0032 a0001c0016t0004 a0003c0009t0011 a0005c0011t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(32): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0002g0008 a0001c0001t0003g0099 a0001c0001t0006g0010 a0001c0001t0007g0026 a0001c0001t0007g0035 a0001c0001t0027g0034 a0001c0002t0002g0093 a0001c0002t0015g0007 a0001c0003t0001g0086 a0001c0003t0001g0092 a0001c0003t0021g0089 a0001c0004t0001g0025 a0001c0004t0001g0102 a0001c0004t0001g0103 a0001c0004t0003g0009 a0001c0004t0004g0044 a0001c0004t0004g0084 a0001c0004t0004g0097 a0001c0004t0005g0011 a0001c0004t0005g0012 a0001c0004t0005g0095 a0001c0005t0001g0088 a0001c0005t0030g0091 a0001c0006t0002g0041 a0001c0006t0031g0096 a0001c0012t0032g0021 a0001c0016t0004g0085 a0003c0009t0011g0101 a0005c0011t0002g0090	35	57	0.6140	34	c.79+ others(51): Show c.79+11178_79+11211dupCCCCTTTCCCCCGCCTTCCCCTTTCCCC CGCCTT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	112980636	C C	CCCCTTTC others(27): Show CCCCTTTCCCCCGCCTTCCCCTTTCCCCCGCCTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0020 a0001c0005t0001g0020	1	114	0.0088	34	c.79+ others(51): Show c.79+11211_79+11212insTCCCTTTCCCCCGCCTTCCCCTTTCCCC CGCCTT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113040412	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	20	0.0500	34	c.279 others(51): Show c.279-4834_279-4833insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113047876	G G	GCCTCCGC others(27): Show GCCTCCGCTGACGCCTCACTACGCGTGCCCCGGCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	114	0.0088	34	c.369 others(51): Show c.369+2525_369+2526insCGCCTCACTACGCGTGCCCCGGCCCCTC CGCTGA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113047881	C C	CGCTGACG others(27): Show CGCTGACGCCTCACTACGCGTGCCCCGGCCCCTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00544.hp1 others(55): Show HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01978.hp1 HG01993.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03195.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03834.hp1 HG04115.hp1 NA18522.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA19005.hp1 NA19005.hp2 NA19081.hp1 NA19085.hp1 NA19240.hp1 NA20805.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0013 a0001c0015 a0001c0016 a0003c0009 a0004c0014 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0002t0001 a0001c0002t0003 a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0005t0030 a0001c0005t0033 a0001c0006t0002 a0001c0006t0009 a0001c0010t0022 a0001c0013t0001 a0001c0015t0001 a0001c0016t0004 a0003c0009t0011 a0004c0014t0025 a0005c0011t0002	a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0032 others(55): Show a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0002g0008 a0001c0001t0003g0099 a0001c0001t0005g0060 a0001c0001t0006g0010 a0001c0001t0006g0055 a0001c0001t0006g0108 a0001c0001t0012g0053 a0001c0001t0014g0001 a0001c0001t0018g0077 a0001c0001t0020g0107 a0001c0001t0023g0104 a0001c0001t0024g0018 a0001c0001t0029g0098 a0001c0002t0001g0067 a0001c0002t0003g0014 a0001c0002t0003g0023 a0001c0002t0028g0063 a0001c0003t0001g0086 a0001c0003t0002g0040 a0001c0003t0002g0045 a0001c0003t0002g0111 a0001c0004t0001g0102 a0001c0004t0004g0084 a0001c0004t0004g0097 a0001c0004t0005g0011 a0001c0004t0005g0012 a0001c0004t0005g0095 a0001c0005t0001g0020 a0001c0005t0030g0091 a0001c0005t0033g0106 a0001c0006t0002g0029 a0001c0006t0002g0110 a0001c0006t0009g0028 a0001c0010t0022g0015 a0001c0013t0001g0065 a0001c0015t0001g0013 a0001c0016t0004g0085 a0003c0009t0011g0101 a0004c0014t0025g0100 a0005c0011t0002g0090	58	114	0.5088	34	c.369 others(51): Show c.369+2525_369+2526insCGCCTCACTACGCGTGCCCCGGCCCCTC TGCTGA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAAA others(27): Show GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	65	0.0154	34	c.-41 others(45): Show c.-4194_-4193insAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAGA others(27): Show GAGAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01099.hp2 HG01069.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	66	0.0303	34	c.-41 others(45): Show c.-4194_-4193insAGAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN1_chr19_7517624_7539009	7528364	T T	TCCGCTGA others(27): Show TCCGCTGAGCCTCAGATCAGACGGCCCCCAGGAAG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	412	0.0024	34	c.877 others(49): Show c.877+126_877+127insACGGCCCCCAGGAAGCCGCTGAGCCTCAGA TCAG	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG03225.hp2 HG00621.hp1 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0155 a0004c0004t0001g0042 a0001c0001t0001g0155 a0004c0004t0001g0042	2	221	0.0090	34	c.42 others(45): Show c.4246_*4247insTATATATATATATATATATATATATATATACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCPH1_chr8_6401627_6653508	6505275	T T	TACATATA others(27): Show TACATATATATGTTATATACATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02451.hp1 HG02818.hp2 others(4): Show HG01516.hp2 HG02451.hp1 HG02818.hp2 HG03098.hp2 HG03669.hp1 HG04204.hp1 NA18967.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0012 a0017	a0001c0001 a0002c0002 a0003c0005 others(3): Show a0001c0001 a0002c0002 a0003c0005 a0008c0048 a0012c0046 a0017c0045	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0003c0005t0017 a0008c0048t0018 a0012c0046t0004 a0017c0045t0007	a0001c0001t0001g0153 a0001c0001t0005g0010 a0002c0002t0001g0198 others(4): Show a0001c0001t0001g0153 a0001c0001t0005g0010 a0002c0002t0001g0198 a0003c0005t0017g0161 a0008c0048t0018g0220 a0012c0046t0004g0229 a0017c0045t0007g0116	7	206	0.0340	34	c.221 others(53): Show c.2214+5371_2214+5404dupTATGTATATAACATATATATGTTATA TACATATA	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP1_chr5_94698690_95290094	94796615	A A	ATATATAT others(27): Show ATATATATAATATATATTATATATGTAATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18522.hp2 HG01243.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0032 a0001c0003t0002g0022 a0001c0001t0002g0032 a0001c0003t0002g0022	2	97	0.0206	34	c.255 others(53): Show c.2556+2364_2556+2397dupATATATATTACATATATAATATATAT TATATATA	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	18/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94947555	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0006 a0001c0003t0021g0006	1	68	0.0147	34	c.982 others(51): Show c.982-5129_982-5128insATATATATATATATATATATATATATAT ATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94947577	T T	TATATATA others(27): Show TATATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0028 a0002c0005t0028	a0002c0005t0028g0056 a0002c0005t0028g0056	1	50	0.0200	34	c.982 others(51): Show c.982-5151_982-5150insCTCTCTCTATATATATATATATATATAT ATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94243733	G G	GTATATAC others(27): Show GTATATACATATATGTATACACATGCATATGTGTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	176	0.0057	34	c.-66 others(53): Show c.-66+12073_-66+12074insTACATATATGTATACACATGCATATG TGTATATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94244977	T T	TACATATG others(27): Show TACATATGCACCTGTTTATATACGTATATGTATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp1 HG02109.hp1 HG03209.hp1	a0001 a0004 a0001 a0004	a0001c0013 a0004c0008 a0001c0013 a0004c0008	a0001c0013t0037 a0004c0008t0022 a0001c0013t0037 a0004c0008t0022	a0001c0013t0037g0224 a0004c0008t0022g0053 a0001c0013t0037g0224 a0004c0008t0022g0053	2	274	0.0073	34	c.-66 others(53): Show c.-66+13319_-66+13352dupTGCACCTGTTTATATACGTATATGTA TACACATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94303064	A A	ATATATAT others(27): Show ATATATATATATATATAGTTTATATATATATAGTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	88	0.0114	34	c.465 others(51): Show c.465+4344_465+4345insTATATAGTTTATATATATATAGTTTATA TATATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94464240	A A	ATATATAT others(27): Show ATATATATATATATATATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0016 a0002c0007t0016	a0002c0007t0016g0059 a0002c0007t0016g0147 a0002c0007t0016g0059 a0002c0007t0016g0147	2	267	0.0075	34	c.236 others(53): Show c.2360+5995_2360+6028dupTATATATATATATATATTATATATAT ATATATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MDFIC_chr7_114917094_115024917	115007630	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0053 a0001c0001t0022g0053	1	25	0.0400	34	c.494 others(51): Show c.494-8057_494-8056insGTGTATATATATATATATATATATATAT ATATAT	MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
MDFI_chr6_41633468_41659244	41656188	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02129.hp2 NA18948.hp2 HG02074.hp2 HG02129.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0118 a0001c0001t0004g0183 a0001c0001t0015g0117 a0001c0001t0004g0118 a0001c0001t0004g0183 a0001c0001t0015g0117	3	456	0.0066	34	c.26 others(45): Show c.2613_*2614insCACACACACACACACACACACACACACACACACT	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1945		chr6	TogoVar
MDFI_chr6_41633468_41659244	41656190	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18994.hp1 NA18612.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0059 a0001c0001t0001g0015 a0001c0001t0001g0059	2	441	0.0045	34	c.26 others(45): Show c.2615_*2616insCACACACACACACACACACACACACACACACACT	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1947		chr6	TogoVar
MDFI_chr6_41633468_41659244	41656198	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	459	0.0022	34	c.26 others(45): Show c.2623_*2624insCACACACACACACACACACACACACACACACACT	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1955		chr6	TogoVar
MDGA2_chr14_46835092_47680605	47013772	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0054 a0001c0001t0027g0054	1	25	0.0400	34	c.181 others(55): Show c.1819+21238_1819+21239insTATATATATATATATATATATATA TATATATATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(27): Show TATATATATATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0119 a0002c0010t0005g0119	1	39	0.0256	34	c.281 others(53): Show c.281-34196_281-34195insGTATGTGTGTATATATATATATATAT ATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar

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