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
MOXD1_chr6_132291055_132406475	132349396	C C	CATATATA others(43): Show CATATATATATACATATATATATACATATATATATACATATATATATACA T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	272	0.0037	50	c.664 others(69): Show c.664-20803_664-20802insATGTATATATATATGTATATATATAT GTATATATATATGTATATATATAT	MOXD1	ENSG00000079931.15	transcript	ENST00000367963.8	protein_coding	4/11			chr6	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCCA G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02132.hp1 NA18944.hp2 HG02015.hp1 HG02132.hp1 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0008 a0001c0002t0006g0074 a0001c0002t0006g0008 a0001c0002t0006g0074	3	208	0.0144	50	c.670 others(65): Show c.670+788_670+789insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTTTTCTGAGCCAGG	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MPZL1_chr1_167716982_167796919	167739288	T T	TACATATA others(43): Show TACATATATACATATATATATATATATACATATATACATATATATATATA C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0042 a0001c0001t0052g0042	1	371	0.0027	50	c.91+ others(67): Show c.91+17047_91+17048insCATATATACATATATATATATATATACA TATATACATATATATATATACA	MPZL1	ENSG00000197965.12	transcript	ENST00000359523.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRGPRG_chr11_3212944_3223813	3216860	T T	TTTCTTTC others(43): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCCTTTCTGTCTTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0000 a0002c0000	a0002c0000t0000 a0002c0000t0000	a0002c0000t0000g0000 a0002c0000t0000g0000	1	419	0.0024	50	c.10 others(61): Show c.1083_*1084insGAAAGACAGAAAGGAAAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1083		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3216887	G G	GCTTTCTT others(43): Show GCTTTCTTTCTTTTTCCTTCCTTTCTTTCTTTCTTTCTTTTTCCTTTCTT T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	373	0.0027	50	c.10 others(61): Show c.1056_*1057insAAAGAAAGGAAAAAGAAAGAAAGAAAGAAAGGAA GGAAAAAGAAAGAAAG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1056		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3216899	T T	TTTCCTTC others(43): Show TTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTTTCCTTTCTTTCTTTCTT G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	50	c.10 others(61): Show c.1044_*1045insCAAGAAAGAAAGAAAGGAAAAAGAAAGAAAGAAA GAAAGAAAGGAAGGAA	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1044		chr11	TogoVar
MROH2A_chr2_233773330_233838418	233787819	A A	AATATATA others(43): Show AATATATATTATATATAATATATATTATATATACATATATATTATATATA C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0043 a0043	a0043c0048 a0043c0048	a0043c0048t0001 a0043c0048t0001	a0043c0048t0001g0052 a0043c0048t0001g0052	1	149	0.0067	50	c.277 others(67): Show c.277-1662_277-1661insATATATATTATATATACATATATATTAT ATATACATATATATTATATATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL15_chr8_54130241_54153514	54153301	T T	TGCCTCAA others(43): Show TGCCTCAACAGGAAAAGTTCTTAATGGGGAACAAGGGAGGAAGTTAGTCA C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	388	0.0026	50	c.55 others(61): Show c.5582_*5583insGCCTCAACAGGAAAAGTTCTTAATGGGGAACAAG GGAGGAAGTTAGTCAC	MRPL15	ENSG00000137547.9	transcript	ENST00000260102.9	protein_coding		4788		chr8	TogoVar
MRPL39_chr21_25580656_25612481	25602395	G G	GAACTCAC others(43): Show GAACTCACAGAGTTTGTATGAAGGTTAAATGAGTTAATATCTGTAAATCA C	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	398	0.0025	50	c.421 others(65): Show c.421-978_421-929dupGTGATTTACAGATATTAACTCATTTAACCT TCATACAAACTCTGTGAGTT	MRPL39	ENSG00000154719.14	transcript	ENST00000352957.9	protein_coding	3/9			chr21	TogoVar
MRPL44_chr2_223952463_223972714	223969554	G G	GCCCCCCC others(43): Show GCCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	146	0.0068	50	c.25 others(61): Show c.2520_*2521insCCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCC CCCCCCCCCCCCCCCC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1841		chr2	TogoVar
MRPL53_chr2_74466982_74477680	74476717	G G	GAAAAAAA others(43): Show GAAAAAAAAAAAGAAAATAAATTAAGAAAAAAAAAAAAAAAAAAAGAGAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	50	c.-40 others(61): Show c.-4058_-4057insTTTCTCTTTTTTTTTTTTTTTTTTTCTTAATTTA TTTTCTTTTTTTTTTT	MRPL53	ENSG00000204822.7	transcript	ENST00000258105.8	protein_coding		4038		chr2	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(43): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTG T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	110	0.0091	50	c.48+ others(65): Show c.48+1416_48+1417insACACACACACACACACTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(43): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTG T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	110	0.0091	50	c.48+ others(65): Show c.48+1416_48+1417insACACACACACACACACACACACACTCTCTC TCTCTCTCTCTCTCTCTCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRTFA_chr22_40405289_40641719	40501669	G G	GGGCGGGG others(43): Show GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCC A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0070 a0001c0007t0001g0070	1	237	0.0042	50	c.242 others(69): Show c.242-38384_242-38383insTGGCCAGCTGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCCGCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537522	G G	GCCCCGTC others(43): Show GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCACCCGGCCAGCC A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02559.hp1 HG00741.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0069 a0001c0009t0001g0157 a0001c0001t0001g0069 a0001c0009t0001g0157	2	254	0.0079	50	c.241 others(69): Show c.241+14583_241+14584insTGGCTGGCCGGGTGGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSL1_chr17_40116971_40141917	40140375	C C	CACACACA others(43): Show CACACACACCAACACACACACACACACACACCCCAACACACACACACCCC A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	350	0.0029	50	c.60 others(61): Show c.6006_*6007insACACACACCAACACACACACACACACACACCCCA ACACACACACACCCCA	MSL1	ENSG00000188895.12	transcript	ENST00000398532.9	protein_coding		3459		chr17	TogoVar
MSLN_chr16_755734_773862	767753	C C	CGCGTGGA others(43): Show CGCGTGGAGGGGGCGCGTGGAGGGGGCGCGTGGAGGGGGGAGCGTGGGGG G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0212 a0002c0003t0004g0212	1	364	0.0027	50	c.159 others(67): Show c.1596+292_1596+293insGGGCGCGTGGAGGGGGCGCGTGGAGGGG GGAGCGTGGGGGGGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767986	A A	AGGGGGGC others(43): Show AGGGGGGCGCATGGGGGTGCGTGGGGGGGGCGCGTGGAGGGGGGGCGTGT G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0027 a0002c0002t0012g0027	1	372	0.0027	50	c.159 others(67): Show c.1597-384_1597-383insATGGGGGTGCGTGGGGGGGGCGCGTGGA GGGGGGGCGTGTGGGGGGGCGC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767988	G G	GGGGGCAC others(43): Show GGGGGCACATGGGGGTGCGTGGGGGGGCGTGTGGGGGGGGTGCGTGGAGG A	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18947.hp1 HG03942.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0299 a0002c0002t0002g0310 a0002c0002t0002g0299 a0002c0002t0002g0310	2	225	0.0089	50	c.159 others(67): Show c.1597-386_1597-385insACATGGGGGTGCGTGGGGGGGCGTGTGG GGGGGGTGCGTGGAGGAGGGGC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767988	G G	GGGGGCAC others(43): Show GGGGGCACATGGGGGTGCGTGGGGGGGGCGTGTGGGGGGGTGCGTGGAGG A	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18954.hp2 HG02080.hp1 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0283 a0002c0002t0002g0302 a0002c0002t0002g0283 a0002c0002t0002g0302	2	225	0.0089	50	c.159 others(67): Show c.1597-386_1597-385insACATGGGGGTGCGTGGGGGGGGCGTGTG GGGGGGTGCGTGGAGGAGGGGC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767988	G G	GGGGGGCA others(43): Show GGGGGGCACATGGGGGTGCGTGGGGGGGCGTGTGGGGGGGTGCGTGGAGG A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0301 a0002c0002t0002g0301	1	224	0.0045	50	c.159 others(67): Show c.1597-387_1597-386insGCACATGGGGGTGCGTGGGGGGGCGTGT GGGGGGGTGCGTGGAGGAGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSRA_chr8_10049292_10433891	10155000	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02135.hp1 HG01433.hp2 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0161 a0001c0002t0002g0135 a0001c0002t0002g0161	2	228	0.0088	50	c.143 others(69): Show c.143-52832_143-52831insATATATATATATATATATATATATAT ATATATATATATATATATATATAT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10417754	T T	TTGTGTGT others(43): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02602.hp2 HG04228.hp1 others(1): Show HG00738.hp2 HG02602.hp2 HG04228.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0003g0106 others(1): Show a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0003g0106 a0001c0001t0003g0201	4	9	0.4444	50	c.544 others(69): Show c.544-10369_544-10368insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTHFD1L_chr6_150860702_151106887	151090896	C C	CCCATGCG others(43): Show CCCATGCGACTGGGTGCAGCATCGCCCCATGCGACTGGGTGCAGCATCGT T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02965.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0004g0145 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0004g0145 a0001c0001t0004g0168	4	208	0.0192	50	c.284 others(69): Show c.2848-1548_2848-1547insCCCCATGCGACTGGGTGCAGCATCGT TCCATGCGACTGGGTGCAGCATCG	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1L_chr6_150860702_151106887	151090896	C C	CCCATGCT others(43): Show CCCATGCTACTGGGTGCCGCATCGTTCCATGCGACTGGGTGCAGCATCGT T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0007 a0006c0009t0007	a0006c0009t0007g0059 a0006c0009t0007g0059	1	205	0.0049	50	c.284 others(69): Show c.2848-1565_2848-1564insTACTGGGTGCCGCATCGTTCCATGCG ACTGGGTGCAGCATCGTTCCATGC	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1L_chr6_150860702_151106887	151090946	T T	TCCATGAG others(43): Show TCCATGAGACTGGGTGCAGCATCATTCCATGCGACTGGGTGCAGCATCGC C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02155.hp1 HG01361.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0209 a0001c0002t0003g0185 a0001c0001t0001g0209 a0001c0002t0003g0185	2	149	0.0134	50	c.284 others(69): Show c.2848-1516_2848-1515insAGACTGGGTGCAGCATCATTCCATGC GACTGGGTGCAGCATCGCCCCATG	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1L_chr6_150860702_151106887	151090946	T T	TCCATGCG others(43): Show TCCATGCGACTGGGTGCAGCATCGCTCCATGCGACTGGGTGCAGCATCGC C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	148	0.0068	50	c.284 others(69): Show c.2848-1497_2848-1496insTCCATGCGACTGGGTGCAGCATCGCC CCATGCGACTGGGTGCAGCATCGC	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1L_chr6_150860702_151106887	151090946	T T	TCCATGCG others(43): Show TCCATGCGACTGGGTGCAGCATCGTTCCATGCGACTGGGTGCAGCATCGC C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG02055.hp2 others(13): Show HG00609.hp2 HG00673.hp2 HG02055.hp2 HG02451.hp1 HG02602.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 NA18957.hp1 NA18979.hp1 NA18991.hp1 NA19068.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0002t0003 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005	a0001c0001t0004g0049 a0001c0001t0004g0073 a0001c0001t0004g0092 others(13): Show a0001c0001t0004g0049 a0001c0001t0004g0073 a0001c0001t0004g0092 a0001c0001t0004g0106 a0001c0001t0004g0113 a0001c0001t0008g0096 a0001c0002t0003g0023 a0001c0002t0004g0016 a0001c0002t0004g0037 a0001c0002t0004g0050 a0001c0002t0004g0057 a0001c0002t0004g0064 a0001c0002t0004g0074 a0001c0002t0004g0087 a0001c0002t0004g0130 a0001c0002t0005g0026	16	163	0.0982	50	c.284 others(69): Show c.2848-1498_2848-1497insTTCCATGCGACTGGGTGCAGCATCGC CCCATGCGACTGGGTGCAGCATCG	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(43): Show AACATATATATATGTATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG00280.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0086 a0001c0001t0001g0094	2	114	0.0175	50	c.126 others(67): Show c.1265-922_1265-921insCATATATATATGTATATATATATATATA TATATATATATATATATATATA	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFD2_chr2_74193615_74222565	74203843	C C	CTAGTTTA others(43): Show CTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03239.hp2 HG03453.hp2 others(1): Show HG01256.hp1 HG03239.hp2 HG03453.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0122 a0001c0001t0001g0157 a0001c0001t0001g0158 others(1): Show a0001c0001t0001g0122 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0005g0180	4	142	0.0282	50	c.102 others(67): Show c.102-1846_102-1797dupTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTT	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(43): Show GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTAG T	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	380	0.0026	50	c.102 others(67): Show c.102-1797_102-1796insTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTAGTTT	MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTHFD2_chr2_74193615_74222565	74220327	A A	AGTTGATC others(43): Show AGTTGATCTCTGATGTTAGCTTTGATGTTGATCTCTGATGTTAGCTTTGA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0225 a0001c0001t0010g0225	1	408	0.0025	50	c.60 others(61): Show c.6085_*6086insGTTGATCTCTGATGTTAGCTTTGATGTTGATCTC TGATGTTAGCTTTGAT	MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding		2763		chr2	TogoVar
MTM1_chrX_150563621_150678143	150582530	A A	AGTTAAGA others(43): Show AGTTAAGATGAGGTCATGCAGCACTGGAGTAGGGTGGACTCCTCATCCAG C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	275	0.0036	50	c.-10 others(69): Show c.-10-10074_-10-10025dupGTTAAGATGAGGTCATGCAGCACTGG AGTAGGGTGGACTCCTCATCCAGC	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MTNR1A_chr4_186528655_186560567	186540791	C C	CCAGGTGC others(43): Show CCAGGTGCTGTCTGACTGAAGGAAGGACCAGGTGCTGTCTGACTGAAGGA T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02723.hp1 others(4): Show HG01891.hp2 HG02451.hp2 HG02723.hp1 HG03098.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0031 a0001c0001t0001g0064 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0064 a0001c0001t0001g0074 a0003c0004t0001g0044 a0003c0004t0001g0158	7	388	0.0180	50	c.185 others(67): Show c.185-6235_185-6234insATCCTTCAGTCAGACAGCACCTGGTCCT TCCTTCAGTCAGACAGCACCTG	MTNR1A	ENSG00000168412.7	transcript	ENST00000307161.5	protein_coding	1/1			chr4	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(43): Show CCACACACATGCGCGCGCGCGCGCGCGCGCGCGCGCACACACACACACAC A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0070 a0002c0003t0003g0070	1	238	0.0042	50	c.371 others(67): Show c.3711+190_3711+191insTGCGCGCGCGCGCGCGCGCGCGCGCGCA CACACACACACACACACACACA	MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTSS1_chr8_124545784_124733473	124602188	C C	CATATATA others(43): Show CATATATATATATATATATACACACACACACACATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02523.hp1 HG00639.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0271 a0001c0001t0005g0187 a0001c0001t0004g0271 a0001c0001t0005g0187	2	172	0.0116	50	c.209 others(69): Show c.209-10954_209-10953insATATATATATATATATATGTGTGTGT GTGTGTATATATATATATATATAT	MTSS1	ENSG00000170873.19	transcript	ENST00000518547.6	protein_coding	3/13			chr8	TogoVar
MTTP_chr4_99569824_99628997	99588734	T T	TATATATG others(43): Show TATATATGTTCATATATATACACACATATATATGTTCATATATATACACA C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG02647.hp2 HG02717.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0103 a0005c0005t0001g0104 a0005c0005t0001g0103 a0005c0005t0001g0104	2	344	0.0058	50	c.394 others(65): Show c.394-903_394-902insGTTCATATATATACACACATATATATGTTC ATATATATACACACATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588984	T T	TATATATG others(43): Show TATATATGTTCATATATATGTTCATATATATATGTTCATATATATATGTT C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	354	0.0028	50	c.394 others(65): Show c.394-653_394-652insGTTCATATATATGTTCATATATATATGTTC ATATATATATGTTCATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUC12_chr7_100964565_101023936	100966258	T T	TTCTACGG others(43): Show TTCTACGGTGGATTCCGGCCGCTTGTCTAGGGTGGAACCCCCCAGCTTGC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp1 others(38): Show HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00621.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01257.hp2 HG01258.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp1 HG02074.hp2 HG02132.hp2 HG02135.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02698.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp2 HG03486.hp2 HG03704.hp2 NA18522.hp2 NA18941.hp2 NA18967.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18994.hp2 NA18995.hp2 NA19068.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0005 a0010 a0015 a0019 a0021 a0031 a0038 a0042 a0049 a0067 a0070 a0074 a0075 a0084 a0085 a0094 a0111 a0119 a0121 a0123 a0129 a0140	a0001c0002 a0001c0033 a0001c0134 others(33): Show a0001c0002 a0001c0033 a0001c0134 a0001c0146 a0001c0149 a0001c0154 a0002c0010 a0002c0028 a0002c0030 a0002c0119 a0002c0126 a0002c0132 a0002c0162 a0003c0001 a0005c0088 a0010c0037 a0015c0008 a0019c0013 a0021c0240 a0031c0025 a0038c0027 a0042c0201 a0049c0235 a0067c0106 a0070c0223 a0074c0099 a0075c0108 a0084c0244 a0085c0217 a0094c0107 a0111c0118 a0119c0183 a0121c0177 a0123c0056 a0129c0204 a0140c0109	a0001c0002t0001 a0001c0033t0001 a0001c0134t0001 others(33): Show a0001c0002t0001 a0001c0033t0001 a0001c0134t0001 a0001c0146t0001 a0001c0149t0001 a0001c0154t0001 a0002c0010t0001 a0002c0028t0001 a0002c0030t0001 a0002c0119t0001 a0002c0126t0001 a0002c0132t0001 a0002c0162t0003 a0003c0001t0001 a0005c0088t0001 a0010c0037t0001 a0015c0008t0001 a0019c0013t0001 a0021c0240t0001 a0031c0025t0001 a0038c0027t0001 a0042c0201t0001 a0049c0235t0001 a0067c0106t0001 a0070c0223t0001 a0074c0099t0001 a0075c0108t0001 a0084c0244t0001 a0085c0217t0001 a0094c0107t0001 a0111c0118t0001 a0119c0183t0001 a0121c0177t0001 a0123c0056t0001 a0129c0204t0001 a0140c0109t0001	a0001c0002t0001g0215 a0001c0033t0001g0183 a0001c0134t0001g0169 others(37): Show a0001c0002t0001g0215 a0001c0033t0001g0183 a0001c0134t0001g0169 a0001c0146t0001g0076 a0001c0149t0001g0023 a0001c0154t0001g0023 a0002c0010t0001g0187 a0002c0028t0001g0205 a0002c0030t0001g0220 a0002c0030t0001g0221 a0002c0119t0001g0074 a0002c0126t0001g0207 a0002c0132t0001g0176 a0002c0162t0003g0219 a0003c0001t0001g0062 a0005c0088t0001g0214 a0010c0037t0001g0028 a0010c0037t0001g0292 a0015c0008t0001g0112 a0015c0008t0001g0119 a0015c0008t0001g0121 a0019c0013t0001g0030 a0021c0240t0001g0098 a0031c0025t0001g0015 a0038c0027t0001g0024 a0042c0201t0001g0223 a0049c0235t0001g0075 a0067c0106t0001g0042 a0070c0223t0001g0061 a0074c0099t0001g0135 a0075c0108t0001g0206 a0084c0244t0001g0251 a0085c0217t0001g0031 a0094c0107t0001g0007 a0111c0118t0001g0209 a0119c0183t0001g0006 a0121c0177t0001g0127 a0123c0056t0001g0177 a0129c0204t0001g0001 a0140c0109t0001g0010	41	333	0.1231	50	c.-33 others(61): Show c.-3365_-3364insTCTACGGTGGATTCCGGCCGCTTGTCTAGGGTGG AACCCCCCAGCTTGCC	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding		3306		chr7	TogoVar
MUC12_chr7_100964565_101023936	100966258	T T	TTGTACGG others(43): Show TTGTACGGTGGATTCCGGCCGCTTGTCTAGGGTGGAACACCCCAGCTTGC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01175.hp2 others(3): Show HG00099.hp1 HG00642.hp2 HG01175.hp2 HG01978.hp2 HG02922.hp2 NA20805.hp1	a0001 a0002 a0027 others(2): Show a0001 a0002 a0027 a0046 a0096	a0001c0128 a0001c0160 a0002c0127 others(3): Show a0001c0128 a0001c0160 a0002c0127 a0027c0055 a0046c0057 a0096c0045	a0001c0128t0001 a0001c0160t0001 a0002c0127t0001 others(3): Show a0001c0128t0001 a0001c0160t0001 a0002c0127t0001 a0027c0055t0001 a0046c0057t0001 a0096c0045t0001	a0001c0128t0001g0164 a0001c0160t0001g0163 a0002c0127t0001g0188 others(3): Show a0001c0128t0001g0164 a0001c0160t0001g0163 a0002c0127t0001g0188 a0027c0055t0001g0260 a0046c0057t0001g0276 a0096c0045t0001g0282	6	298	0.0201	50	c.-33 others(61): Show c.-3365_-3364insTGTACGGTGGATTCCGGCCGCTTGTCTAGGGTGG AACACCCCAGCTTGCC	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding		3306		chr7	TogoVar
MUC12_chr7_100964565_101023936	100966258	T T	TTGTACGG others(43): Show TTGTACGGTGGATTCCGGCCGCTTGTCTAGGGTGGAACCCCCCAGCTTGC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0175 a0007c0175	a0007c0175t0001 a0007c0175t0001	a0007c0175t0001g0025 a0007c0175t0001g0025	1	293	0.0034	50	c.-33 others(61): Show c.-3365_-3364insTGTACGGTGGATTCCGGCCGCTTGTCTAGGGTGG AACCCCCCAGCTTGCC	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding		3306		chr7	TogoVar
MUC6_chr11_1007823_1041718	1009477	A A	AACACGCA others(43): Show AACACGCAGCCCATGACCCCGCGCCAGGGTCTGGAGGGACGGCCCCGGGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0004 a0004	a0004c0001 a0004c0001	a0004c0001t0002 a0004c0001t0002	a0004c0001t0002g0255 a0004c0001t0002g0255	1	391	0.0026	50	c.39 others(61): Show c.3929_*3978dupCCCCCGGGGCCGTCCCTCCAGACCCTGGCGCGGG GTCATGGGCTGCGTGT	MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding		3345		chr11	TogoVar
MUC6_chr11_1007823_1041718	1009490	T T	TGACCCCG others(43): Show TGACCCCGCGCCAGGGTCTGGAGGGGCGGCCCCGGGGGACACGCTGCCCG C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0004 a0004	a0004c0001 a0004c0001	a0004c0001t0002 a0004c0001t0002	a0004c0001t0002g0252 a0004c0001t0002g0252	1	392	0.0026	50	c.39 others(61): Show c.3965_*3966insGCGGGCAGCGTGTCCCCCGGGGCCGCCCCTCCAG ACCCTGGCGCGGGGTC	MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding		3332		chr11	TogoVar
MUC6_chr11_1007823_1041718	1009539	G G	GCGACCCA others(43): Show GCGACCCAGCGCCAGGGTCTGGAGGGGCGGCCCCGGGGGACACGCAGCCC A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0188 a0002c0188	a0002c0188t0001 a0002c0188t0001	a0002c0188t0001g0070 a0002c0188t0001g0070	1	393	0.0025	50	c.38 others(61): Show c.3867_*3916dupTGGGCTGCGTGTCCCCCGGGGCCGCCCCTCCAGA CCCTGGCGCTGGGTCG	MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding		3283		chr11	TogoVar
MUC6_chr11_1007823_1041718	1009546	A A	AGCGCCAG others(43): Show AGCGCCAGGGTCTGGAGGGGCGGCCCCGGGGGACACGCTGCCCGCGACCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0128 a0002c0128	a0002c0128t0001 a0002c0128t0001	a0002c0128t0001g0127 a0002c0128t0001g0127	1	403	0.0025	50	c.39 others(61): Show c.3909_*3910insGGGGTCGCGGGCAGCGTGTCCCCCGGGGCCGCCC CTCCAGACCCTGGCGC	MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding		3276		chr11	TogoVar
MYDGF_chr19_4652545_4675342	4672094	C C	CATATATT others(43): Show CATATATTCACATATGTGAATATATATATTCATATATTCACATATGTGAA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	388	0.0026	50	c.-17 others(61): Show c.-1761_-1760insATTCACATATGTGAATATATGAATATATATATTC ACATATGTGAATATAT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1753		chr19	TogoVar
MYNN_chr3_169768396_169794716	169770957	A A	AATAAAAA others(43): Show AATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATAT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0039 a0001c0001t0014g0039	1	331	0.0030	50	c.-25 others(61): Show c.-2537_-2536insATAAAAATTTATATTTATATATCATAAATAAAAA TTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2438		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771050	A A	AATAAAAA others(43): Show AATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATAT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0017 a0001c0001t0017g0017	1	339	0.0029	50	c.-24 others(61): Show c.-2444_-2443insATAAAAATTTATATTTATATATCATAAATAAAAA TTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2345		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771080	A A	ATATAAAA others(43): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATGTTTATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	346	0.0029	50	c.-24 others(61): Show c.-2414_-2413insTATAAAAATTTATATTTATATATCATATATAAAA ATTTATGTTTATATAT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2315		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771173	A A	ATATAAAA others(43): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 NA20805.hp1 HG02056.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	2	346	0.0058	50	c.-23 others(61): Show c.-2321_-2320insTATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATAT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2222		chr3	TogoVar

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