Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
METTL16_chr17_2411049_2516888	2417085	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0207 a0001c0001t0070g0207	1	298	0.0034	21	c.28 others(32): Show c.2884_*2885insTAAAAAAAAAAAAAAAAAAAA	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	10/10	2884		chr17	TogoVar
METTL16_chr17_2411049_2516888	2428564	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	298	0.0034	21	c.889 others(38): Show c.889-7661_889-7660insATATTTTTTTTTTTTTTTTTT	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	8/9			chr17	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAAAA others(14): Show AACAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0312 a0002c0004t0004g0312	1	488	0.0021	21	c.67 others(30): Show c.671_*672insATATATTTTTTTTTTTTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAAAA others(14): Show AACAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0054 a0010c0011t0054	a0010c0011t0054g0071 a0010c0011t0054g0071	1	488	0.0021	21	c.67 others(30): Show c.671_*672insATATATATTTTTTTTTTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAACA others(14): Show AACAAACAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0105 a0002c0004t0014g0105	1	488	0.0021	21	c.67 others(30): Show c.671_*672insATTTTTTTTTTTTTTGTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL22_chr16_8616698_8654654	8621531	G G	GCCACCCA others(14): Show GCCACCCATATGCGGAGATGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	390	0.0026	21	c.-41 others(30): Show c.-415_-414insCCACCCATATGCGGAGATGAC	METTL22	ENSG00000067365.15	transcript	ENST00000381920.8	protein_coding		166		chr16	TogoVar
METTL22_chr16_8616698_8654654	8651386	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0080 a0001c0001t0048g0080	1	390	0.0026	21	c.52 others(32): Show c.5243_*5244insAAAAAAAAAAAAAAAAAAAAA	METTL22	ENSG00000067365.15	transcript	ENST00000381920.8	protein_coding		1733		chr16	TogoVar
METTL24_chr6_110238940_110363349	110295794	A A	AAAAGAAA others(14): Show AAAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG02486.hp1 HG02630.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0007 a0001c0002 a0007c0007	a0001c0002t0027 a0007c0007t0009 a0001c0002t0027 a0007c0007t0009	a0001c0002t0027g0124 a0007c0007t0009g0018 a0001c0002t0027g0124 a0007c0007t0009g0018	2	268	0.0075	21	c.786 others(38): Show c.786+3127_786+3128insCCTTCCTTCCTTTCTTTCTTT	METTL24	ENSG00000053328.9	transcript	ENST00000338882.5	protein_coding	4/4			chr6	TogoVar
METTL27_chr7_73829590_73847516	73842642	G G	GCCCCCCC others(14): Show GCCCCCCCCCCCCCCCCACCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	372	0.0027	21	c.-15 others(30): Show c.-158_-157insGGGGTGGGGGGGGGGGGGGGG	METTL27	ENSG00000165171.11	transcript	ENST00000297873.9	protein_coding		127		chr7	TogoVar
METTL27_chr7_73829590_73847516	73842642	G G	GCCCCCCC others(14): Show GCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02602.hp2 HG02683.hp2 others(3): Show HG02132.hp2 HG02602.hp2 HG02683.hp2 HG06807.hp2 NA18522.hp2 NA18950.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0016 a0002c0002 a0013c0016	a0002c0002t0001 a0013c0016t0001 a0002c0002t0001 a0013c0016t0001	a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0028 others(3): Show a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0028 a0002c0002t0001g0081 a0002c0002t0001g0087 a0013c0016t0001g0152	6	372	0.0161	21	c.-15 others(30): Show c.-158_-157insGGGGGGGGGGGGGGGGGGGGG	METTL27	ENSG00000165171.11	transcript	ENST00000297873.9	protein_coding		127		chr7	TogoVar
METTL27_chr7_73829590_73847516	73842642	G G	GCCCCCCC others(14): Show GCCCCCCCCCCCCCCTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0020 a0003c0003t0001g0020	1	372	0.0027	21	c.-15 others(30): Show c.-158_-157insGGGGGGAGGGGGGGGGGGGGG	METTL27	ENSG00000165171.11	transcript	ENST00000297873.9	protein_coding		127		chr7	TogoVar
METTL2B_chr7_128471748_128511602	128484217	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0121 a0001c0003t0018g0121	1	406	0.0025	21	c.608 others(38): Show c.608+3529_608+3549dupTTTTTTTTTTTTTTTTTTTTT	METTL2B	ENSG00000165055.16	transcript	ENST00000262432.13	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
METTL5_chr2_169806757_169829905	169826106	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG03239.hp2 NA18975.hp2 HG01243.hp1 HG03239.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0055	3	412	0.0073	21	c.-15 others(32): Show c.-1510_-1509insTTTTTTTTTTTTTTTTTTTTT	METTL5	ENSG00000138382.15	transcript	ENST00000260953.10	protein_coding		1202		chr2	TogoVar
METTL8_chr2_171310746_171438990	171356952	A A	ATGTTTTT others(14): Show ATGTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0046 a0001c0001t0008g0046	1	332	0.0030	21	c.235 others(38): Show c.235+3469_235+3470insAAAAAAAAAAAAAAAAAAACA	METTL8	ENSG00000123600.21	transcript	ENST00000375258.9	protein_coding	3/9			chr2	TogoVar
METTL8_chr2_171310746_171438990	171363815	T T	TATATATA others(14): Show TATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0298 a0001c0002t0007g0298	1	332	0.0030	21	c.144 others(38): Show c.144-3303_144-3302insGATATATATATATATATATAT	METTL8	ENSG00000123600.21	transcript	ENST00000375258.9	protein_coding	2/9			chr2	TogoVar
METTL9_chr16_21594577_21662471	21605257	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	364	0.0028	21	c.165 others(38): Show c.165+5378_165+5398dupTTTTTTTTTTTTTTTTTTTTT	METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
METTL9_chr16_21594577_21662471	21613168	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03195.hp1 NA18955.hp2 HG01934.hp2 HG03195.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0199 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0199	3	364	0.0082	21	c.356 others(36): Show c.356+349_356+369dupTTTTTTTTTTTTTTTTTTTTT	METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
METTL9_chr16_21594577_21662471	21622141	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01106.hp2 others(24): Show HG00140.hp2 HG00741.hp1 HG01106.hp2 HG01175.hp2 HG01243.hp2 HG01258.hp2 HG02572.hp2 HG02615.hp2 HG02809.hp2 HG03239.hp1 HG03654.hp2 HG03834.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp1 NA18955.hp1 NA18956.hp2 NA18968.hp1 NA18973.hp2 NA18980.hp2 NA18995.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19083.hp1 NA19087.hp1 NA19089.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0042 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0146 a0003c0006t0001g0072	27	364	0.0742	21	c.567 others(38): Show c.567-2789_567-2769dupTTTTTTTTTTTTTTTTTTTTT	METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
MET_chr7_116667196_116803377	116755043	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0147 a0001c0005t0016g0147	1	340	0.0029	21	c.170 others(38): Show c.1702-312_1702-311insGAAAGAAAGAAAGAAAGAAAG	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	5/20			chr7	TogoVar
MFAP5_chr12_8640943_8667826	8666889	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 NA19240.hp1 HG02622.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0006g0184 a0001c0001t0006g0185	2	372	0.0054	21	c.-42 others(32): Show c.-4266_-4265insAAAAAAAAAAAAAAAAAAAAA	MFAP5	ENSG00000197614.11	transcript	ENST00000359478.7	protein_coding		4064		chr12	TogoVar
MFGE8_chr15_88893683_88918379	88913993	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG02738.hp2 others(2): Show HG00099.hp1 HG01106.hp2 HG02738.hp2 NA18951.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0003t0002 a0001c0003t0004 others(1): Show a0001c0002t0002 a0001c0003t0002 a0001c0003t0004 a0002c0001t0009	a0001c0002t0002g0207 a0001c0003t0002g0003 a0001c0003t0002g0210 others(2): Show a0001c0002t0002g0207 a0001c0003t0002g0003 a0001c0003t0002g0210 a0001c0003t0004g0136 a0002c0001t0009g0047	5	436	0.0115	21	c.-67 others(30): Show c.-675_-674insTTTTTTTTTTTTTTTTTTTTT	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding		615		chr15	TogoVar
MFHAS1_chr8_8778354_8898630	8846297	A A	AAGAAGGA others(14): Show AAGAAGGAGGAGGGGAAGGAGG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	324	0.0031	21	c.299 others(42): Show c.2998+43743_2998+43763dupCCTCCTTCCCCTCCTCCTTCT	MFHAS1	ENSG00000147324.11	transcript	ENST00000276282.7	protein_coding	1/2			chr8	TogoVar
MFSD14B_chr9_94369569_94466042	94373229	A A	AGTGTGTG others(14): Show AGTGTGTGTGTGTGTGTCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	350	0.0029	21	c.-15 others(32): Show c.-1591_-1590insGTGTGTGTGTGTGTGTCCTGT	MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding		1339		chr9	TogoVar
MFSD14B_chr9_94369569_94466042	94373681	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02886.hp2 others(2): Show HG01109.hp2 HG01884.hp2 HG02886.hp2 HG03130.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012	a0001c0001t0002g0321 a0001c0001t0002g0340 a0001c0001t0002g0341 others(2): Show a0001c0001t0002g0321 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0005g0032 a0001c0001t0012g0005	5	350	0.0143	21	c.-11 others(32): Show c.-1139_-1138insTTTTTTTTTTTTTTTTTTTTT	MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding		887		chr9	TogoVar
MFSD14B_chr9_94369569_94466042	94450507	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp2 HG01496.hp2 others(3): Show HG01243.hp1 HG01256.hp2 HG01496.hp2 HG02572.hp1 HG02896.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0330 others(3): Show a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0330 a0001c0001t0002g0339 a0001c0001t0007g0336 a0001c0001t0007g0338	6	350	0.0171	21	c.844 others(36): Show c.844-949_844-948insTTTTTTTTTTTTTTTTTTTTC	MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding	7/11			chr9	TogoVar
MFSD4A_chr1_205564014_205607918	205565033	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	378	0.0027	21	c.-40 others(32): Show c.-4037_-4036insAATAATAATAATAATAATAAT	MFSD4A	ENSG00000174514.13	transcript	ENST00000367147.9	protein_coding		3980		chr1	TogoVar
MFSD4B_chr6_111254339_111285005	111271775	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 NA20752.hp2 HG01243.hp1 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0056 a0001c0003t0055 a0001c0003t0056	a0001c0003t0055g0009 a0001c0003t0056g0009 a0001c0003t0055g0009 a0001c0003t0056g0009	2	364	0.0055	21	c.46 others(32): Show c.4667_*4687dupAAAAAAAAAAAAAAAAAAAAA	MFSD4B	ENSG00000173214.7	transcript	ENST00000671876.2	protein_coding	4/4	4688	INFO_REALIGN_3_PRIME	chr6	TogoVar
MFSD6_chr2_190403355_190507314	190482903	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	344	0.0029	21	c.163 others(40): Show c.1631-5754_1631-5753insTTTTTTTTTTTTTTTTTTTTG	MFSD6	ENSG00000151690.15	transcript	ENST00000392328.6	protein_coding	4/7			chr2	TogoVar
MGAM2_chr7_142106718_142227324	142174715	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0045 a0045	a0045c0062 a0045c0062	a0045c0062t0001 a0045c0062t0001	a0045c0062t0001g0043 a0045c0062t0001g0043	1	329	0.0030	21	c.368 others(38): Show c.3688-919_3688-918insTTTTTTTTTTTTTTTTTTTTT	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT3_chr22_39452012_39497194	39475128	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	306	0.0033	21	c.-1- others(38): Show c.-1-12217_-1-12197dupTTTTTTTTTTTTTTTTTTTTT	MGAT3	ENSG00000128268.12	transcript	ENST00000341184.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr22	TogoVar
MGAT5B_chr17_76863404_76955393	76951849	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01106.hp1 NA20129.hp2 HG01069.hp2 HG01106.hp1 NA20129.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0076 a0002c0002 a0006c0036 a0001c0076 a0002c0002 a0006c0036	a0001c0076t0008 a0002c0002t0008 a0006c0036t0008 a0001c0076t0008 a0002c0002t0008 a0006c0036t0008	a0001c0076t0008g0109 a0002c0002t0008g0012 a0006c0036t0008g0047 a0001c0076t0008g0109 a0002c0002t0008g0012 a0006c0036t0008g0047	3	278	0.0108	21	c.30 others(32): Show c.3011_*3012insAAAAAAAAAAAAAAAAAAAAA	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding		1457		chr17	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19005.hp1 NA18984.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0239 a0001c0001t0013g0175 a0001c0001t0007g0239 a0001c0001t0013g0175	2	282	0.0071	21	c.138 others(42): Show c.1381-15655_1381-15654insATATATATATATATATATTTT	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	282	0.0036	21	c.138 others(42): Show c.1381-15655_1381-15654insATATATATATATATTTTTTTT	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGA_chr15_41655405_41774940	41656338	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0121 a0001c0001t0009g0121	1	292	0.0034	21	c.-42 others(32): Show c.-4255_-4254insTCTCTCTCTCTCTCTCTCTCT	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding		4066		chr15	TogoVar
MGA_chr15_41655405_41774940	41656344	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02004.hp1 HG02293.hp1 others(4): Show HG01943.hp2 HG02004.hp1 HG02293.hp1 NA18944.hp1 NA18985.hp1 NA19000.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0110 others(4): Show a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0014g0136	7	292	0.0240	21	c.-42 others(32): Show c.-4249_-4248insCTCTCTCTCTCTCTCTCTCTC	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding		4060		chr15	TogoVar
MGLL_chr3_127684066_127827515	127737630	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02451.hp2 HG02027.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0149 a0001c0001t0003g0195 a0001c0001t0002g0149 a0001c0001t0003g0195	2	314	0.0064	21	c.263 others(40): Show c.263-15085_263-15065dupAAAAAAAAAAAAAAAAAAAAA	MGLL	ENSG00000074416.16	transcript	ENST00000265052.10	protein_coding	3/7			chr3	TogoVar
MGME1_chr20_17964018_17996122	17983267	T T	TTTGTGTG others(14): Show TTTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01169.hp1 HG02083.hp1 others(3): Show HG00609.hp1 HG01169.hp1 HG02083.hp1 HG03831.hp2 NA18949.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0026 a0001c0002t0003g0026 a0001c0002t0003g0079 others(3): Show a0001c0002t0002g0026 a0001c0002t0003g0026 a0001c0002t0003g0079 a0001c0002t0003g0097 a0001c0002t0003g0103 a0001c0002t0003g0110	6	402	0.0149	21	c.732 others(38): Show c.732-4898_732-4897insTGTGTGTGTGTGTGTGTGTGT	MGME1	ENSG00000125871.14	transcript	ENST00000377710.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
MGMT_chr10_129462241_129775983	129518374	A A	ACACACAC others(14): Show ACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0016 a0001c0001t0012g0016	1	194	0.0052	21	c.-12 others(40): Show c.-12-17867_-12-17866insCACACACACACACACACACAT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4			chr10	TogoVar
MGMT_chr10_129462241_129775983	129646754	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0048 a0001c0001t0018g0048	1	194	0.0052	21	c.126 others(40): Show c.126-61140_126-61139insATATATATTTTTTTTTTTTTT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGST2_chr4_139660819_139709243	139702844	G G	GCTTTTTT others(14): Show GCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	440	0.0023	21	c.230 others(36): Show c.230-611_230-610insCTTTTTTTTTTTTTTTTTTTT	MGST2	ENSG00000085871.9	transcript	ENST00000265498.6	protein_coding	3/4			chr4	TogoVar
MGST2_chr4_139660819_139709243	139702844	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02300.hp2 HG00738.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0001g0045 a0001c0001t0001g0078	2	440	0.0046	21	c.230 others(36): Show c.230-605_230-585dupTTTTTTTTTTTTTTTTTTTTT	MGST2	ENSG00000085871.9	transcript	ENST00000265498.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
MIA2_chr14_39228915_39355694	39238793	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02976.hp2 HG03834.hp1 others(1): Show HG02965.hp1 HG02976.hp2 HG03834.hp1 NA18948.hp1	a0002 a0011 a0030 a0002 a0011 a0030	a0002c0001 a0011c0021 a0030c0047 a0002c0001 a0011c0021 a0030c0047	a0002c0001t0002 a0011c0021t0002 a0030c0047t0002 a0002c0001t0002 a0011c0021t0002 a0030c0047t0002	a0002c0001t0002g0075 a0002c0001t0002g0076 a0011c0021t0002g0074 others(1): Show a0002c0001t0002g0075 a0002c0001t0002g0076 a0011c0021t0002g0074 a0030c0047t0002g0077	4	368	0.0109	21	c.250 others(38): Show c.250-1750_250-1749insAAAAAAAAAAAAAAAAAAAAA	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIB1_chr18_21735792_21875953	21835836	C C	CACACACA others(14): Show CACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0148 a0001c0001t0007g0148	1	308	0.0033	21	c.183 others(40): Show c.1830-2526_1830-2525insCACACACACACACACACAACA	MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr18	TogoVar
MICAL2_chr11_12105590_12268785	12180349	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0284 a0001c0005t0001g0284	1	358	0.0028	21	c.264 others(40): Show c.264+17931_264+17932insATATATATATATATATATATT	MICAL2	ENSG00000133816.19	transcript	ENST00000683283.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
MICAL2_chr11_12105590_12268785	12180350	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01978.hp1 NA18522.hp2 HG01069.hp2 HG01978.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002	a0001c0004t0001g0162 a0001c0005t0001g0082 a0001c0005t0002g0054 a0001c0004t0001g0162 a0001c0005t0001g0082 a0001c0005t0002g0054	3	358	0.0084	21	c.264 others(40): Show c.264+17931_264+17932insATATATATATATATATATATA	MICAL2	ENSG00000133816.19	transcript	ENST00000683283.1	protein_coding	3/27			chr11	TogoVar
MICALL2_chr7_1429359_1464470	1439412	C C	CACACATG others(14): Show CACACATGCATCACACAGATGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG00735.hp2 others(35): Show HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01081.hp1 HG01358.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18964.hp1 NA18967.hp1 NA18983.hp2 NA18994.hp2 NA19066.hp2 NA19240.hp1	a0002 a0003 a0017 others(11): Show a0002 a0003 a0017 a0031 a0038 a0039 a0040 a0045 a0046 a0053 a0054 a0058 a0059 a0065	a0002c0003 a0002c0090 a0003c0004 others(14): Show a0002c0003 a0002c0090 a0003c0004 a0003c0026 a0017c0060 a0017c0064 a0031c0093 a0038c0086 a0039c0046 a0040c0072 a0045c0048 a0046c0028 a0053c0070 a0054c0054 a0058c0085 a0059c0094 a0065c0045	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(17): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0090t0002 a0003c0004t0002 a0003c0004t0003 a0003c0026t0002 a0017c0060t0002 a0017c0064t0002 a0031c0093t0002 a0038c0086t0002 a0039c0046t0002 a0040c0072t0002 a0045c0048t0002 a0046c0028t0001 a0053c0070t0002 a0054c0054t0002 a0058c0085t0004 a0059c0094t0002 a0065c0045t0002	a0002c0003t0001g0176 a0002c0003t0002g0002 a0002c0003t0002g0064 others(33): Show a0002c0003t0001g0176 a0002c0003t0002g0002 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0175 a0002c0003t0002g0177 a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0182 a0002c0003t0002g0185 a0002c0003t0004g0016 a0002c0090t0002g0181 a0003c0004t0002g0042 a0003c0004t0002g0066 a0003c0004t0002g0090 a0003c0004t0002g0099 a0003c0004t0002g0100 a0003c0004t0002g0122 a0003c0004t0002g0139 a0003c0004t0003g0062 a0003c0026t0002g0029 a0017c0060t0002g0192 a0017c0064t0002g0051 a0031c0093t0002g0184 a0038c0086t0002g0171 a0039c0046t0002g0233 a0040c0072t0002g0110 a0045c0048t0002g0157 a0046c0028t0001g0019 a0053c0070t0002g0161 a0054c0054t0002g0160 a0058c0085t0004g0015 a0059c0094t0002g0170 a0065c0045t0002g0155	38	280	0.1357	21	c.196 others(38): Show c.1967-438_1967-418dupACATCTGTGTGATGCATGTGT	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	9/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1439728	A A	AACACATG others(14): Show AACACATGCACACATGCATCAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0001 a0006c0019t0001	a0006c0019t0001g0036 a0006c0019t0001g0036	1	280	0.0036	21	c.196 others(38): Show c.1966+176_1966+196dupGTGATGCATGTGTGCATGTGT	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	9/16			chr7	TogoVar
MICU1_chr10_72362340_72631079	72366043	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	208	0.0048	21	c.21 others(32): Show c.2151_*2152insTTTTTTTTTTTTTTTTTTTTT	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding		1296		chr10	TogoVar
MICU1_chr10_72362340_72631079	72530372	A A	AATAATAA others(14): Show AATAATAATAATAATAATAATG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	208	0.0048	21	c.537 others(38): Show c.537+3373_537+3374insCATTATTATTATTATTATTAT	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	5/11			chr10	TogoVar
MICU2_chr13_21487691_21609170	21517804	C C	CGCGCGCG others(14): Show CGCGCGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0008 a0001c0003t0003g0008	1	316	0.0032	21	c.598 others(38): Show c.598-3387_598-3386insTGTGCGCGCGCGCGCGCGCGC	MICU2	ENSG00000165487.14	transcript	ENST00000382374.9	protein_coding	6/11			chr13	TogoVar

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