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
MON1A_chr3_49903873_49934811	49911201	G G	GATAGATA others(36): Show GATAGATAGATAGATAGATAGATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19066.hp1 NA18993.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	2	256	0.0078	43	c.614 others(58): Show c.614-318_614-317insGTATCTATCATCTATCTATCTATCTATCTA TCTATCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MON1A_chr3_49903873_49934811	49911205	G G	GATAGATA others(36): Show GATAGATAGATAGATAGATAGATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG01175.hp2 others(2): Show HG00438.hp1 HG00597.hp2 HG01175.hp2 HG01257.hp2 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0005 a0001c0002 a0001c0006 a0002c0005	a0001c0002t0001 a0001c0006t0001 a0002c0005t0001 a0001c0002t0001 a0001c0006t0001 a0002c0005t0001	a0001c0002t0001g0032 a0001c0002t0001g0155 a0001c0006t0001g0091 others(1): Show a0001c0002t0001g0032 a0001c0002t0001g0155 a0001c0006t0001g0091 a0002c0005t0001g0064	5	250	0.0200	43	c.613 others(58): Show c.613+320_613+321insGTATCTATCATCTATCTATCTATCTATCTA TCTATCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MON1A_chr3_49903873_49934811	49911209	G G	GATAGATA others(36): Show GATAGATAGATAGATAGATAGATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03490.hp1 HG03927.hp1 others(3): Show HG00639.hp2 HG03490.hp1 HG03927.hp1 NA18952.hp1 NA18983.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0037 a0001c0002t0001g0138 others(1): Show a0001c0002t0001g0014 a0001c0002t0001g0037 a0001c0002t0001g0138 a0001c0002t0001g0144	6	234	0.0256	43	c.613 others(58): Show c.613+316_613+317insGTATCTATCATCTATCTATCTATCTATCTA TCTATCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MON1A_chr3_49903873_49934811	49911217	G G	GATAGATA others(36): Show GATAGATAGATAGATAGATAGATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0060	1	218	0.0046	43	c.613 others(58): Show c.613+308_613+309insGTATCTATCATCTATCTATCTATCTATCTA TCTATCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAGAAGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0182 a0002c0002t0002g0182	1	62	0.0161	43	c.133 others(62): Show c.1331-4936_1331-4935insCTTCCTTCCTTCCTTCCTTCCTTCTT CTCTTTCTTTCTTTCTT	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27			chr3	TogoVar
MPDZ_chr9_13100707_13284692	13136325	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0083 a0001c0008t0001g0083	1	114	0.0088	43	c.429 others(60): Show c.4293-144_4293-143insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	30/46			chr9	TogoVar
MPPED1_chr22_43407014_43512848	43432876	A A	AGAAAGGG others(36): Show AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01358.hp2 HG01361.hp1 others(9): Show HG00738.hp1 HG01358.hp2 HG01361.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG03017.hp2 HG03669.hp2 HG03704.hp2 NA18951.hp2 NA18995.hp2 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0012 a0001c0013t0010	a0001c0002t0001g0013 a0001c0002t0001g0093 a0001c0002t0001g0102 others(9): Show a0001c0002t0001g0013 a0001c0002t0001g0093 a0001c0002t0001g0102 a0001c0002t0002g0101 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0007g0103 a0001c0002t0007g0106 a0001c0002t0012g0047 a0001c0013t0010g0094	12	142	0.0845	43	c.225 others(60): Show c.225-2157_225-2156insAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPZ_chr1_161299735_161314968	161309552	A A	ATATATAT others(36): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	85	0.0118	43	c.67+ others(56): Show c.67+286_67+287insAAAAAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATA	MPZ	ENSG00000158887.19	transcript	ENST00000533357.5	protein_coding	1/5			chr1	TogoVar
MPZ_chr1_161299735_161314968	161309552	A A	ATATATAT others(36): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01516.hp2 HG01167.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	2	86	0.0233	43	c.67+ others(56): Show c.67+286_67+287insAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATA	MPZ	ENSG00000158887.19	transcript	ENST00000533357.5	protein_coding	1/5			chr1	TogoVar
MRGPRG_chr11_3212944_3223813	3216895	G G	GCTTTCTT others(36): Show GCTTTCTTTCTTTTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03139.hp1 NA18906.hp2 HG02809.hp1 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	387	0.0078	43	c.10 others(54): Show c.1048_*1049insAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAAAA GAAAGAAAG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1048		chr11	TogoVar
MRM3_chr17_777353_797509	790546	A A	ACCCGCTG others(36): Show ACCCGCTGATTGGCCGGCTTACCTCCTGTGCTGCCACACCCCCG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp2 HG01243.hp1 others(14): Show HG00733.hp1 HG01123.hp2 HG01243.hp1 HG02135.hp2 HG02602.hp1 HG03516.hp1 NA18747.hp2 NA18943.hp1 NA18955.hp2 NA18960.hp1 NA18968.hp2 NA18984.hp1 NA18989.hp2 NA18994.hp2 NA19010.hp2 NA19064.hp2 NA19083.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0010 a0004c0004 a0005c0014 a0001c0010 a0004c0004 a0005c0014	a0001c0010t0001 a0004c0004t0002 a0005c0014t0001 a0001c0010t0001 a0004c0004t0002 a0005c0014t0001	a0001c0010t0001g0040 a0004c0004t0002g0011 a0004c0004t0002g0015 others(4): Show a0001c0010t0001g0040 a0004c0004t0002g0011 a0004c0004t0002g0015 a0004c0004t0002g0035 a0004c0004t0002g0050 a0004c0004t0002g0053 a0005c0014t0001g0066	17	438	0.0388	43	c.728 others(58): Show c.728-975_728-974insCGGCTTACCTCCTGTGCTGCCACACCCCCG CCCGCTGATTGGC	MRM3	ENSG00000171861.11	transcript	ENST00000304478.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRM3_chr17_777353_797509	795597	T T	TTAGCCCC others(36): Show TTAGCCCCACTTTTGCCATTCTACCACGCACAGCCCTCACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	438	0.0023	43	c.35 others(54): Show c.3528_*3529insTAGCCCCACTTTTGCCATTCTACCACGCACAGCC CTCACACAC	MRM3	ENSG00000171861.11	transcript	ENST00000304478.9	protein_coding		3089		chr17	TogoVar
MROH9_chr1_170930534_171069765	170933538	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01256.hp1 HG01256.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0027 a0002c0002 a0003c0027	a0002c0002t0001 a0003c0027t0001 a0002c0002t0001 a0003c0027t0001	a0002c0002t0001g0149 a0003c0027t0001g0148 a0002c0002t0001g0149 a0003c0027t0001g0148	2	224	0.0089	43	c.-20 others(54): Show c.-2087_-2086insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding		1995		chr1	TogoVar
MRO_chr18_50790130_50825016	50795335	T T	TTTTATAA others(36): Show TTTTATAACTATGAAAGTAATACATGCTCATTGCAGCAAACTTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0055 a0004c0009t0055	a0004c0009t0055g0207 a0004c0009t0055g0207	1	428	0.0023	43	c.39 others(54): Show c.3959_*4001dupTAAGTTTGCTGCAATGAGCATGTATTACTTTCAT AGTTATAAA	MRO	ENSG00000134042.14	transcript	ENST00000398439.8	protein_coding	8/8	4001		chr18	TogoVar
MRPL28_chr16_361969_375538	362821	C C	CCTGGGCG others(36): Show CCTGGGCGCCGGGGGTCTCGGGCCGCGGCTGCTCCCCCAGGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01256.hp1 HG01993.hp1 others(5): Show HG00642.hp2 HG01256.hp1 HG01993.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp2 NA18990.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0112 a0001c0002t0001g0001 a0001c0002t0001g0098 others(1): Show a0001c0001t0001g0112 a0001c0002t0001g0001 a0001c0002t0001g0098 a0001c0002t0001g0128	8	377	0.0212	43	c.48 others(54): Show c.4853_*4854insAGTCCTGGGGGAGCAGCCGCGGCCCGAGACCCCC GGCGCCCAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding		4147		chr16	TogoVar
MRPL28_chr16_361969_375538	362821	C C	CCTGGGTG others(36): Show CCTGGGTGCTGGGGGTCTCGGGCCGCGGCTGCTCCCCCAGGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01891.hp1 others(11): Show HG00323.hp2 HG00642.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02080.hp2 HG02486.hp2 HG02717.hp1 HG03453.hp2 NA18947.hp2 NA19005.hp2 NA19054.hp2 NA19060.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(9): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0003g0015 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0187	14	383	0.0366	43	c.48 others(54): Show c.4853_*4854insAGTCCTGGGGGAGCAGCCGCGGCCCGAGACCCCC AGCACCCAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding		4147		chr16	TogoVar
MRPL28_chr16_361969_375538	362973	C C	CGCGGCTG others(36): Show CGCGGCTGCTCTCCCAGGACTTAGCACCGGGGGGGTCTCGGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	316	0.0032	43	c.47 others(54): Show c.4701_*4702insAGCCCGAGACCCCCCCGGTGCTAAGTCCTGGGAG AGCAGCCGC	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding		3995		chr16	TogoVar
MRPL28_chr16_361969_375538	362975	C C	CGGCTGCT others(36): Show CGGCTGCTCCCCCAGGACTCTGGGCGCCGGGGGTCTCGGGCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	392	0.0026	43	c.46 others(54): Show c.4699_*4700insACGGCCCGAGACCCCCGGCGCCCAGAGTCCTGGG GGAGCAGCC	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding		3993		chr16	TogoVar
MSLN_chr16_755734_773862	767502	G G	GGGGGGGC others(36): Show GGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGAGGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0271 a0003c0004t0003g0271	1	386	0.0026	43	c.159 others(58): Show c.1596+32_1596+33insGGGGGGCGAGTGGAGGAGCCCCGGTGGAGG GGCGCGTGGAGGA	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGGCGCAT others(36): Show GGGCGCATGGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA18971.hp1 HG01256.hp2 NA18971.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0017 a0001c0001 a0012c0017	a0001c0001t0001 a0012c0017t0001 a0001c0001t0001 a0012c0017t0001	a0001c0001t0001g0105 a0012c0017t0001g0082 a0001c0001t0001g0105 a0012c0017t0001g0082	2	110	0.0182	43	c.159 others(60): Show c.1596+242_1596+243insGCGCATGGGGGGGGCGTGGAGGGGGGTG CGTGGAGGAGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSRB3_chr12_65273683_65471907	65396700	A A	AAGAAAGA others(36): Show AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0301 a0001c0001t0009g0301	1	290	0.0034	43	c.292 others(62): Show c.292+27675_292+27676insGAAAGAAAGAAAGAAAGAAAGAAAAG AAAGAAAGAAAGAAAGA	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MT4_chr16_56560073_56573957	56566819	A A	AAGAAGGA others(36): Show AAGAAGGAAGGAAGGAAGGAAGGAAGAAGAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	361	0.0028	43	c.32- others(56): Show c.32-931_32-930insGAAGGAAGGAAGGAAGGAAGGAAGAAGAAGAA AGAAAGAAAGA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTA3_chr2_42563632_42761946	42613063	T T	TTGTTGTT others(36): Show TTGTTGTTGATATTAACTAGGTTGGTTGAGTCTATATAATTGAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	310	0.0032	43	c.317 others(60): Show c.317+3479_317+3480insTGTTGTTGATATTAACTAGGTTGGTTGA GTCTATATAATTGAA	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	4/16			chr2	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(36): Show CATATATATATATATATGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03098.hp2 HG03195.hp2 HG02257.hp2 HG03098.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087	3	172	0.0174	43	c.-81 others(62): Show c.-81+11185_-81+11186insATATATATATATATATGTGTATATAT ATATATATATATATATA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTIF3_chr13_27430643_27455564	27449604	A A	ACTGAGCT others(36): Show ACTGAGCTTAACACTGAATGCTTCTACAGTCCAGTTGACCTTTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	412	0.0024	43	c.-71 others(58): Show c.-71+862_-71+904dupGAAAGGTCAACTGGACTGTAGAAGCATTCA GTGTTAAGCTCAG	MTIF3	ENSG00000122033.15	transcript	ENST00000381120.8	protein_coding	1/4			chr13	TogoVar
MTUS2_chr13_28815339_29510947	29375570	T T	TAATATAT others(36): Show TAATATATATAATATATATATATTATATATATATAATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	86	0.0116	43	c.311 others(64): Show c.3117+16098_3117+16099insATATATATAATATATATATATTAT ATATATATAATATATATAA	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC4_chr3_195741771_195816929	195776280	C C	CCATACCT others(36): Show CCATACCTTCCACCCATACCTTCCACAGTCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0105 a0105	a0105c0157 a0105c0157	a0105c0157t0003 a0105c0157t0003	a0105c0157t0003g0212 a0105c0157t0003g0212	1	204	0.0049	43	c.129 others(64): Show c.12944-1976_12944-1975insACTGTGGAAGGTATGACTGTGGAA GGTATGGGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110701652	A A	ATTATTTT others(36): Show ATTATTTTTTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	260	0.0038	43	c.628 others(60): Show c.628+4188_628+4189insATTTTTTTTATTTTATTTTATTTTATTT TATTTTATTTTATTT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MXI1_chr10_110202605_110292365	110216665	G G	GTTTTTTT others(36): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0303 a0001c0001t0006g0303	1	5	0.2000	43	c.274 others(60): Show c.274+8603_274+8604insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	MXI1	ENSG00000119950.21	transcript	ENST00000332674.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
MXRA5_chrX_3303565_3351652	3315373	A A	ATAGATGA others(36): Show ATAGATGAAATAGGTAGAAGGATGGATAGATGATGGATAGATAG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02922.hp2 HG03139.hp1 others(5): Show HG02165.hp1 HG02922.hp2 HG03139.hp1 NA18973.hp2 NA18988.hp1 NA19007.hp1 NA19081.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0033 a0001c0001 a0003c0003 a0003c0033	a0001c0001t0001 a0003c0003t0001 a0003c0033t0001 a0001c0001t0001 a0003c0003t0001 a0003c0033t0001	a0001c0001t0001g0010 a0001c0001t0001g0070 a0003c0003t0001g0178 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0070 a0003c0003t0001g0178 a0003c0003t0001g0190 a0003c0003t0001g0198 a0003c0003t0001g0205 a0003c0003t0001g0207 a0003c0033t0001g0195	8	124	0.0645	43	c.657 others(62): Show c.6578+1729_6578+1730insCTATCTATCCATCATCTATCCATCCT TCTACCTATTTCATCTA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	6/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3315373	A A	ATGAAATA others(36): Show ATGAAATAGGTAGAAGGATGGATAGATGATGGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01256.hp1 HG01891.hp1 others(10): Show HG00597.hp2 HG01256.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01993.hp2 HG02273.hp2 HG02630.hp2 HG02809.hp1 HG03195.hp2 NA18984.hp1 NA19002.hp1 NA19011.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0003c0003 a0003c0014 others(1): Show a0001c0001 a0003c0003 a0003c0014 a0012c0015	a0001c0001t0001 a0003c0003t0001 a0003c0014t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0003c0014t0001 a0012c0015t0006	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 others(9): Show a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0173 a0001c0001t0001g0222 a0001c0001t0001g0230 a0003c0003t0001g0017 a0003c0003t0001g0199 a0003c0003t0001g0220 a0003c0014t0001g0200 a0012c0015t0006g0170	13	129	0.1008	43	c.657 others(62): Show c.6578+1729_6578+1730insCTATCTATCTATCCATCATCTATCCA TCCTTCTACCTATTTCA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	6/6			chrX	TogoVar
MYDGF_chr19_4652545_4675342	4663176	C C	CACAGCCT others(36): Show CACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19240.hp2 NA19009.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0195 a0001c0006t0001g0136 a0001c0001t0001g0195 a0001c0006t0001g0136	2	398	0.0050	43	c.287 others(60): Show c.287+1699_287+1700insAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGGAGGCTGT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663221	C C	CACAGCCT others(36): Show CACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	405	0.0025	43	c.287 others(60): Show c.287+1612_287+1654dupAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGGAGGCTGT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663370	T T	TCTCCCCA others(36): Show TCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	398	0.0025	43	c.287 others(60): Show c.287+1505_287+1506insGGTAGATTGGAGGCTGTAGAATGAGGAT GGGGTGGGTGGGGAG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663519	A A	ATCCTCAT others(36): Show ATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCGTCCTG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	408	0.0025	43	c.287 others(60): Show c.287+1356_287+1357insCAGGACGGGTGGGGAGGGTAGATTGGAG GCTGTAGAATGAGGA	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663531	C C	CACAGCCT others(36): Show CACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18994.hp1 HG00140.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0178 a0001c0001t0001g0001 a0001c0001t0001g0178	2	393	0.0051	43	c.287 others(60): Show c.287+1344_287+1345insAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGGAGGCTGT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663565	C C	CCCTCATT others(36): Show CCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02145.hp1 HG02630.hp1 others(2): Show HG01192.hp1 HG02145.hp1 HG02630.hp1 HG03098.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 a0001c0001t0001 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0145 a0002c0002t0003g0024 a0002c0002t0003g0084 others(2): Show a0001c0001t0001g0145 a0002c0002t0003g0024 a0002c0002t0003g0084 a0002c0002t0004g0070 a0002c0002t0004g0071	5	222	0.0225	43	c.287 others(60): Show c.287+1310_287+1311insATGGGGTGGGTGGGGAGGGTAGATTGGA GGCTGTAGAATGAGG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYH9_chr22_36276280_36392967	36384609	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATAAATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0231 a0001c0004t0004g0231	1	215	0.0047	43	c.-20 others(60): Show c.-20+3197_-20+3198insATATTTATATATATATATATATATATAT ATATATATATATATA	MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	1/40			chr22	TogoVar
MYNN_chr3_169768396_169794716	169770567	C C	CGTAAATA others(36): Show CGTAAATATAAATATATAAAAATTTATATTTATATATCGTAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02717.hp1 others(1): Show HG02055.hp1 HG02258.hp1 HG02717.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017	a0001c0001t0002g0041 a0001c0001t0014g0039 a0001c0001t0016g0015 others(1): Show a0001c0001t0002g0041 a0001c0001t0014g0039 a0001c0001t0016g0015 a0001c0001t0017g0017	4	150	0.0267	43	c.-29 others(54): Show c.-2927_-2926insGTAAATATAAATATATAAAAATTTATATTTATAT ATCGTAAAT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2828		chr3	TogoVar
MYO1E_chr15_59127434_59377871	59282916	G G	GGGAGGGG others(36): Show GGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19043.hp2 NA19240.hp1 HG02280.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0027 a0001c0004t0019 a0001c0001t0001 a0001c0003t0027 a0001c0004t0019	a0001c0001t0001g0030 a0001c0003t0027g0007 a0001c0004t0019g0065 a0001c0001t0001g0030 a0001c0003t0027g0007 a0001c0004t0019g0065	3	214	0.0140	43	c.4-1 others(58): Show c.4-10468_4-10467insTCCCCCTCCCCCCCTCCCCCTCCCCCCTCC CCCTCCCCCCTCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282927	G G	GGGAGGGG others(36): Show GGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01346.hp2 HG02004.hp2 HG00140.hp2 HG01346.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0035 a0001c0001t0001 a0001c0002t0003 a0001c0002t0035	a0001c0001t0001g0068 a0001c0002t0003g0091 a0001c0002t0035g0089 a0001c0001t0001g0068 a0001c0002t0003g0091 a0001c0002t0035g0089	3	221	0.0136	43	c.4-1 others(58): Show c.4-10479_4-10478insTCCCCCCTCCCCCTCCCCCCTCCCCCCTCC CCCTCCCCCCTCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282928	G G	GGAGGGGG others(36): Show GGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19062.hp2 NA18968.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0004 a0001c0002t0005	a0001c0002t0004g0205 a0001c0002t0005g0081 a0001c0002t0004g0205 a0001c0002t0005g0081	2	162	0.0123	43	c.4-1 others(58): Show c.4-10480_4-10479insTCCCCCCCTCCCCCTCCCCCCTCCCCCCTC CCCCTCCCCCCTC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282928	G G	GGAGGGGG others(36): Show GGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0088 a0001c0004t0002g0088	1	161	0.0062	43	c.4-1 others(58): Show c.4-10480_4-10479insTCCCCCCTCCCCCCTCCCCCCTCCCCCCTC CCCCTCCCCCCTC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282928	G G	GGAGGGGG others(36): Show GGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18946.hp1 NA19002.hp1 HG02027.hp2 NA18946.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0007t0042 a0001c0001t0001 a0001c0001t0004 a0001c0007t0042	a0001c0001t0001g0216 a0001c0001t0004g0049 a0001c0007t0042g0096 a0001c0001t0001g0216 a0001c0001t0004g0049 a0001c0007t0042g0096	3	163	0.0184	43	c.4-1 others(58): Show c.4-10480_4-10479insTCCCCCCTCCCCCTCCCCCCTCCCCCCTCC CCCCTCCCCCCTC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282928	G G	GGAGGGGG others(36): Show GGAGGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	161	0.0062	43	c.4-1 others(58): Show c.4-10480_4-10479insTCCCCCCTCCCCCTCCCCCCTCCCCCCTCC CCCTCCCCCCCTC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282928	G G	GGGAGGGG others(36): Show GGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0214 a0001c0004t0015g0214	1	161	0.0062	43	c.4-1 others(58): Show c.4-10480_4-10479insTCCCCCCTCCCCCTCCCCCCTCCCCCCTCC CCCTCCCCCCTCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282955	G G	GGGGGAGG others(36): Show GGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	210	0.0048	43	c.4-1 others(58): Show c.4-10507_4-10506insTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCCTCCCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO7A_chr11_77123246_77220241	77210223	A A	AGGGGGGA others(36): Show AGGGGGGAGGGGGGGGGGGGGGGAGGGGGGCGAGTGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0159 a0002c0002t0001g0159	1	354	0.0028	43	c.605 others(60): Show c.6052-926_6052-925insGGGAGGGGGGGGGGGGGGGAGGGGGGCG AGTGGGGAGGGGGGG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	44/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYOF_chr10_93301429_93487334	93478832	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01192.hp1 HG01496.hp2 others(12): Show HG00280.hp2 HG01192.hp1 HG01496.hp2 HG02109.hp1 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03225.hp2 HG03704.hp1 NA18612.hp2 NA18906.hp1 NA19030.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012 a0001c0018 a0002c0053 a0003c0007 a0004c0006 a0004c0047 a0008c0032	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0004 a0001c0012t0001 a0001c0018t0001 a0002c0053t0001 a0003c0007t0001 a0004c0006t0001 a0004c0047t0001 a0008c0032t0001	a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 others(12): Show a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0118 a0001c0003t0001g0071 a0001c0004t0001g0026 a0001c0004t0004g0012 a0001c0012t0001g0075 a0001c0018t0001g0072 a0002c0053t0001g0077 a0003c0007t0001g0004 a0003c0007t0001g0005 a0004c0006t0001g0028 a0004c0047t0001g0029 a0008c0032t0001g0027	15	167	0.0898	43	c.88+ others(58): Show c.88+3274_88+3275insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478836	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02897.hp1 HG02976.hp2 others(4): Show HG00639.hp2 HG02897.hp1 HG02976.hp2 NA18983.hp1 NA18990.hp2 NA19085.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0016	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0003c0016t0006	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0002t0001g0002 others(4): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0002t0001g0002 a0001c0002t0001g0101 a0001c0005t0001g0099 a0001c0005t0001g0100 a0003c0016t0006g0036	7	81	0.0864	43	c.88+ others(58): Show c.88+3270_88+3271insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar

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