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
MSLN_chr16_755734_773862	769182	G G	GCCCCGGC others(23): Show GCCCCGGCCCCGGCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA18906.hp1 NA19043.hp2 HG06807.hp1 NA18906.hp1 NA19043.hp2	a0006 a0026 a0006 a0026	a0006c0007 a0026c0042 a0006c0007 a0026c0042	a0006c0007t0001 a0026c0042t0001 a0006c0007t0001 a0026c0042t0001	a0006c0007t0001g0008 a0006c0007t0001g0026 a0026c0042t0001g0008 a0006c0007t0001g0008 a0006c0007t0001g0026 a0026c0042t0001g0008	3	388	0.0077	30	c.44 others(39): Show c.449_*450insCCCCGGCCCCGGCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		321		chr16	TogoVar
MSLN_chr16_755734_773862	769235	G G	GGCCCCGG others(23): Show GGCCCCGGCCCCAGCCCCAGCCCCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	388	0.0026	30	c.50 others(39): Show c.502_*503insGCCCCGGCCCCAGCCCCAGCCCCAGCCCCA	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		374		chr16	TogoVar
MSLN_chr16_755734_773862	769235	G G	GGCCCCGG others(23): Show GGCCCCGGCCCCGGCCCCGGCCCCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	388	0.0026	30	c.50 others(39): Show c.502_*503insGCCCCGGCCCCGGCCCCGGCCCCAGCCCCA	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		374		chr16	TogoVar
MSLN_chr16_755734_773862	769259	A A	ACCCCCAC others(23): Show ACCCCCACCCCCGGCCCCGGCCCCGGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0293 a0002c0025t0002g0293	1	388	0.0026	30	c.52 others(39): Show c.526_*527insCCCCCACCCCCGGCCCCGGCCCCGGCCCCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		398		chr16	TogoVar
MSMO1_chr4_165322669_165348164	165329625	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	462	0.0022	30	c.-32 others(47): Show c.-32+1888_-32+1889insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MSMO1	ENSG00000052802.13	transcript	ENST00000261507.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
MSR1_chr8_16102881_16197651	16103019	G G	GTATACAT others(23): Show GTATACATGTATACATATGTGTATGTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0280 a0001c0001t0025g0280	1	330	0.0030	30	c.70 others(41): Show c.7065_*7066insTATACACATACACATATGTATACATGTATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding		4861		chr8	TogoVar
MSR1_chr8_16102881_16197651	16189731	A A	ATATATAT others(23): Show ATATATATAAAATCTTATTTTATATATATTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	330	0.0030	30	c.-5+ others(45): Show c.-5+2866_-5+2867insAAATATATATAAAATAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSRA_chr8_10049292_10433891	10155002	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA21309.hp2 HG02451.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0071 a0001c0001t0016g0073 a0001c0001t0004g0071 a0001c0001t0016g0073	2	286	0.0070	30	c.143 others(49): Show c.143-52819_143-52818insTATATATATATATATATATATATATA TATA	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10283160	A A	ACACACAC others(23): Show ACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0076 a0001c0001t0007g0076	1	286	0.0035	30	c.332 others(49): Show c.332-18373_332-18372insACACACACACACTCTCTCTCTCTCTC TCTC	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10363738	C C	CCACACAC others(23): Show CCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19068.hp1 NA19077.hp1 others(1): Show NA19009.hp2 NA19068.hp1 NA19077.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0163 a0001c0001t0001g0280 a0001c0001t0003g0123 others(1): Show a0001c0001t0001g0163 a0001c0001t0001g0280 a0001c0001t0003g0123 a0001c0002t0002g0279	4	286	0.0140	30	c.543 others(49): Show c.543+43761_543+43790dupACACACACACACACACACACACACAC ACAC	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10363738	C C	CCACACGC others(23): Show CCACACGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	286	0.0035	30	c.543 others(49): Show c.543+43754_543+43755insGCACACACACACACACACACACACAC ACAC	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10417754	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02895.hp1 HG01891.hp2 HG02055.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0026 a0001c0001t0003g0041 a0001c0001t0004g0059 a0001c0001t0003g0026 a0001c0001t0003g0041 a0001c0001t0004g0059	3	286	0.0105	30	c.544 others(49): Show c.544-10369_544-10368insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRB1_chr16_1933229_1948199	1934084	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	448	0.0022	30	c.50 others(41): Show c.5027_*5028insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MSRB1	ENSG00000198736.13	transcript	ENST00000361871.8	protein_coding		4144		chr16	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTCTCTGT others(23): Show CTCTCTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	442	0.0023	30	c.118 others(45): Show c.118+627_118+628insCTCTGTGTGTGTGTGTGTGTGTGTGTGTGT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTCTGTGT others(23): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	2	442	0.0045	30	c.118 others(45): Show c.118+627_118+628insCTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02280.hp1 HG02717.hp1 others(7): Show HG01433.hp2 HG02280.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03453.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0001t0001 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0016 a0001c0001t0001g0141 a0001c0001t0001g0142 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0279 a0001c0001t0004g0298 a0001c0002t0002g0036	10	442	0.0226	30	c.118 others(45): Show c.118+647_118+648insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSTO1_chr1_155605218_155619951	155609243	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 NA19056.hp1 HG03942.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	2	398	0.0050	30	c.-10 others(41): Show c.-1006_-1005insTATATATATATATATATATATATATATATT	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		974		chr1	TogoVar
MSX1_chr4_4854665_4868936	4858514	T T	TTTTTTAT others(23): Show TTTTTTATTATTATTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	440	0.0023	30	c.-13 others(41): Show c.-1386_-1385insTTTTTATTATTATTATTATTATTATTATTA	MSX1	ENSG00000163132.8	transcript	ENST00000382723.5	protein_coding		1150		chr4	TogoVar
MT3_chr16_56584528_56596085	56592142	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02602.hp1 HG03017.hp2 others(4): Show HG01106.hp2 HG02602.hp1 HG03017.hp2 HG03831.hp2 NA18948.hp2 NA18967.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0005 a0001c0001t0001g0006	7	438	0.0160	30	c.11 others(41): Show c.1193_*1194insATATATATATATATATATATATATATATAT	MT3	ENSG00000087250.9	transcript	ENST00000200691.5	protein_coding		1058		chr16	TogoVar
MTA3_chr2_42563632_42761946	42577105	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0082 a0001c0001t0014g0082	1	312	0.0032	30	c.97- others(45): Show c.97-2001_97-2000insAAAAAAAAAAAAAATATATATATATATATA	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01993.hp1 HG01978.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0195 a0001c0001t0002g0180 a0001c0001t0002g0195	2	312	0.0064	30	c.191 others(49): Show c.191-14729_191-14728insATATATATATATATATATATATATAT TTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03490.hp1 HG03492.hp2 others(1): Show HG02056.hp1 HG03490.hp1 HG03492.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0175 a0001c0001t0002g0176 others(1): Show a0001c0001t0002g0025 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0197	4	312	0.0128	30	c.191 others(49): Show c.191-14729_191-14728insATATATATATATATATATATATATTT TTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	312	0.0032	30	c.191 others(49): Show c.191-14729_191-14728insATATATATATATATATTTTTTTTTTT TTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	312	0.0032	30	c.191 others(49): Show c.191-14729_191-14728insATATATATATATATTTTTTTTTTTTT TTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42647155	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAACAAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0080 a0001c0001t0017g0080	1	312	0.0032	30	c.499 others(47): Show c.499+2923_499+2924insACAAAAAAAAAAAAAACAAAAAAAAAAA AA	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTAP_chr9_21797636_21872081	21802985	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02896.hp2 HG03654.hp2 others(7): Show HG01192.hp2 HG02896.hp2 HG03654.hp2 NA18962.hp1 NA18986.hp2 NA19007.hp1 NA19011.hp2 NA19060.hp1 NA19063.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 a0001c0003t0001 a0002c0002t0004 a0002c0002t0048 a0002c0002t0052	a0001c0001t0001g0034 a0001c0001t0001g0345 a0001c0001t0005g0031 others(7): Show a0001c0001t0001g0034 a0001c0001t0001g0345 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0019g0033 a0001c0003t0001g0028 a0001c0003t0001g0029 a0002c0002t0004g0035 a0002c0002t0048g0030 a0002c0002t0052g0036	10	382	0.0262	30	c.33+ others(43): Show c.33+227_33+256dupACACACACACACACACACACACACACACAC	MTAP	ENSG00000099810.21	transcript	ENST00000644715.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
MTCH2_chr11_47612317_47647559	47633505	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01891.hp1 NA18998.hp1 others(1): Show HG00323.hp1 HG01891.hp1 NA18998.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0052 a0002c0002t0001g0057 others(1): Show a0002c0002t0001g0041 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0001g0112	4	370	0.0108	30	c.369 others(47): Show c.369+1166_369+1167insATATATATATATATATATATATATATAT AT	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12			chr11	TogoVar
MTCL1_chr18_8700556_8837778	8705585	A A	ACGCCGCC others(23): Show ACGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0022 a0006c0014t0022	a0006c0014t0022g0115 a0006c0014t0022g0115	1	336	0.0030	30	c.-50 others(37): Show c.-50_-49insCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	MTCL1	ENSG00000168502.18	transcript	ENST00000695636.1	protein_coding	1/15	49	INFO_REALIGN_3_PRIME	chr18	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0082 a0001c0001t0044g0082	1	370	0.0027	30	c.104 others(49): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAAAAATATA TATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp2 HG03490.hp2 others(3): Show HG00639.hp2 HG01192.hp2 HG03490.hp2 NA18747.hp1 NA18965.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0054 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0101	6	370	0.0162	30	c.104 others(49): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAAATATATA TATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18968.hp2 NA19065.hp1 NA18949.hp2 NA18968.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0026g0098 a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0026g0098	3	370	0.0081	30	c.104 others(49): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAATATATATA TATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0118 a0001c0001t0034g0118	1	370	0.0027	30	c.104 others(49): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAATATATATATA TATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250632	G G	GAAGAAGA others(23): Show GAAGAAGAAGAAGAAGAAAGAAGAAAGAAGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18942.hp2 HG01256.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0204 a0001c0001t0001g0186 a0001c0001t0001g0204	2	294	0.0068	30	c.677 others(45): Show c.677+273_677+274insTCTTCTTTCTTCTTTCTTCTTCTTCTTCTT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250639	A A	AAGGAGGA others(23): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03834.hp1 HG01167.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0068 a0001c0001t0001g0074	2	294	0.0068	30	c.677 others(45): Show c.677+266_677+267insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250681	A A	AAGAAGAA others(23): Show AAGAAGAAGAAGAAGAAGAAGAAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	294	0.0034	30	c.677 others(45): Show c.677+224_677+225insCCTCCTCCTTCTTCTTCTTCTTCTTCTTCT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250682	A A	AGAAGAAG others(23): Show AGAAGAAGAAGAAGAGGAGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00639.hp2 others(23): Show HG00280.hp1 HG00438.hp2 HG00639.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp1 HG02630.hp2 HG02735.hp1 HG03017.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG04115.hp1 HG04199.hp1 NA18951.hp2 NA18953.hp1 NA18960.hp2 NA18965.hp2 NA18979.hp2 NA19011.hp2 NA19068.hp1 NA20752.hp1 NA20805.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0006 a0001c0001 a0009c0006	a0001c0001t0001 a0009c0006t0001 a0001c0001t0001 a0009c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0184 a0001c0001t0001g0187 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0009c0006t0001g0183	26	294	0.0884	30	c.677 others(45): Show c.677+223_677+224insCCCTCCCCCTCCCTCCTCTTCTTCTTCTTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250682	A A	AGAAGAAG others(23): Show AGAAGAAGAAGGGGGAGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	294	0.0034	30	c.677 others(45): Show c.677+223_677+224insCCCTCCCCCTCCCCCTCCCCCTTCTTCTTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250682	A A	AGAAGAGG others(23): Show AGAAGAGGAAGAGGGAGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	294	0.0034	30	c.677 others(45): Show c.677+223_677+224insCCCTCCCCCTCCCCCTCCCTCTTCCTCTTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTHFD1L_chr6_150860702_151106887	151069251	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0081	1	226	0.0044	30	c.284 others(51): Show c.2848-23215_2848-23186dupTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1_chr14_64383353_64465025	64429261	A A	AACATATA others(23): Show AACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG02976.hp2 others(3): Show HG00621.hp1 HG01109.hp1 HG02976.hp2 NA18962.hp1 NA18993.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0070 a0001c0001t0001g0128 others(3): Show a0001c0001t0001g0053 a0001c0001t0001g0070 a0001c0001t0001g0128 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0214	6	342	0.0175	30	c.126 others(47): Show c.1265-922_1265-921insCATATATATATATATATATATATATATA TA	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFD2L_chr4_74153118_74308099	74187800	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	200	0.0050	30	c.452 others(49): Show c.452-11988_452-11959dupCACACACACACACACACACACACACA CACA	MTHFD2L	ENSG00000163738.19	transcript	ENST00000325278.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTHFD2L_chr4_74153118_74308099	74188742	A A	ATATGGGT others(23): Show ATATGGGTATATATATATGTGTATACATATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	200	0.0050	30	c.452 others(49): Show c.452-11049_452-11048insGGGTATATATATATGTGTATACATAT GTAT	MTHFD2L	ENSG00000163738.19	transcript	ENST00000325278.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTHFD2_chr2_74193615_74222565	74203843	C C	CTAGTTTA others(23): Show CTAGTTTAGTTTAGTTTAGTTTAGTTTAGTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	414	0.0024	30	c.102 others(47): Show c.102-1826_102-1797dupTAGTTTAGTTTAGTTTAGTTTAGTTTAG TT	MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTHFD2_chr2_74193615_74222565	74203906	G G	GTTTAGTT others(23): Show GTTTAGTTTAGTTTAGTTTAGTTTAGTTAGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	414	0.0024	30	c.102 others(47): Show c.102-1797_102-1796insTAGTTTAGTTTAGTTTAGTTTAGTTAGT TT	MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTM1_chrX_150563621_150678143	150583916	T T	TATATTAA others(23): Show TATATTAAATATATATATTTAATATATATTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01884.hp1 HG02615.hp1 others(2): Show HG00140.hp1 HG01884.hp1 HG02615.hp1 HG03041.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0002g0165 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168	5	277	0.0181	30	c.-10 others(47): Show c.-10-8688_-10-8687insTATTAAATATATATATTTAATATATATT AA	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MTM1_chrX_150563621_150678143	150647194	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp1 HG01243.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0030 a0001c0001t0001g0115	2	277	0.0072	30	c.867 others(47): Show c.867+1350_867+1351insTATATATATATATATATATATATATATA TA	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MTM1_chrX_150563621_150678143	150647221	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	277	0.0036	30	c.867 others(47): Show c.867+1350_867+1351insTATATATATATATATATATATATATATA TG	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	9/14			chrX	TogoVar
MTMR3_chr22_29878174_30035868	29896869	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01978.hp1 HG00741.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0065 a0001c0001t0003 a0001c0001t0065	a0001c0001t0003g0007 a0001c0001t0065g0301 a0001c0001t0003g0007 a0001c0001t0065g0301	2	334	0.0060	30	c.-13 others(51): Show c.-138+13515_-138+13544dupCACACACACACACACACACACACA CACACA	MTMR3	ENSG00000100330.16	transcript	ENST00000401950.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr22	TogoVar
MTMR7_chr8_17291794_17418351	17304746	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19240.hp1 HG02257.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0082 a0001c0001t0008g0088 a0001c0001t0008g0082 a0001c0001t0008g0088	2	360	0.0056	30	c.135 others(47): Show c.1353-228_1353-227insACACACACACACACACACACACACACAC AC	MTMR7	ENSG00000003987.14	transcript	ENST00000180173.10	protein_coding	11/13			chr8	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(23): Show CCACACACATGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0053 a0002c0003t0003g0053	1	372	0.0027	30	c.371 others(47): Show c.3711+190_3711+191insTGCGCGCGCGCACACACACACACACACA CA	MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr1	TogoVar

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