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
MTDH_chr8_97639184_97735260	97697119	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02976.hp2 HG03130.hp2 others(2): Show HG01081.hp2 HG02976.hp2 HG03130.hp2 NA18906.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0029 a0001c0001t0008 a0001c0001t0029	a0001c0001t0008g0155 a0001c0001t0008g0161 a0001c0001t0008g0162 others(2): Show a0001c0001t0008g0155 a0001c0001t0008g0161 a0001c0001t0008g0162 a0001c0001t0008g0163 a0001c0001t0029g0151	5	370	0.0135	17	c.104 others(36): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp1 HG02145.hp2 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0022 a0001c0005t0085 a0001c0005t0022 a0001c0005t0085	a0001c0005t0022g0195 a0001c0005t0085g0194 a0001c0005t0022g0195 a0001c0005t0085g0194	2	370	0.0054	17	c.104 others(36): Show c.1049-2624_1049-2623insAAAAAAAAAAATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0124 a0001c0001t0057g0124	1	370	0.0027	17	c.104 others(36): Show c.1049-2624_1049-2623insAAAAAAATATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0120 a0001c0001t0058g0120	1	370	0.0027	17	c.104 others(36): Show c.1049-2624_1049-2623insAAAAATATATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697150	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18942.hp1 HG02129.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0092 a0001c0001t0001g0100	2	370	0.0054	17	c.104 others(36): Show c.1049-2594_1049-2593insTTTTTTTTTTTTTTTTT	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97708581	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0190 a0001c0001t0006g0190	1	370	0.0027	17	c.127 others(36): Show c.1272+1853_1272+1869dupTTTTTTTTTTTTTTTTT	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTF1_chr1_37804574_37864592	37838797	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02717.hp2 HG02895.hp2 HG01928.hp2 HG02717.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0037 a0001c0001t0002g0270 a0001c0001t0002g0273	3	376	0.0080	17	c.648 others(30): Show c.648-58_648-42dupAAAAAAAAAAAAAAAAA	MTF1	ENSG00000188786.10	transcript	ENST00000373036.5	protein_coding	3/10			chr1	TogoVar
MTF2_chr1_93074283_93144076	93101568	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18968.hp2 HG02698.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0077 a0001c0001t0001g0101	2	340	0.0059	17	c.6-8 others(30): Show c.6-8649_6-8633dupTTTTTTTTTTTTTTTTT	MTF2	ENSG00000143033.18	transcript	ENST00000370298.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTFMT_chr15_64996512_65034639	65003845	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02071.hp2 HG04204.hp1 HG01361.hp2 HG02071.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0008g0140 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0008g0140	3	328	0.0092	17	c.976 others(32): Show c.976-606_976-590dupTTTTTTTTTTTTTTTTT	MTFMT	ENSG00000103707.10	transcript	ENST00000220058.9	protein_coding	8/8			chr15	TogoVar
MTFR1L_chr1_25814954_25837938	25825531	A A	AGAAATCC others(10): Show AGAAATCCTATTATGGTT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	402	0.0025	17	c.130 others(32): Show c.130-770_130-754dupGAAATCCTATTATGGTT	MTFR1L	ENSG00000117640.18	transcript	ENST00000374303.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTFR1_chr8_65639734_65715562	65655951	A A	ATATATAT others(10): Show ATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG02027.hp2 others(8): Show HG00621.hp1 HG00621.hp2 HG02027.hp2 HG02698.hp1 HG03927.hp1 NA18945.hp1 NA18971.hp2 NA18999.hp2 NA19011.hp1 NA19084.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0109 others(8): Show a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0192 a0001c0001t0001g0279 a0001c0001t0004g0081	11	348	0.0316	17	c.-81 others(36): Show c.-81+11167_-81+11168insTATATATATATATATGT	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(10): Show CATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	348	0.0029	17	c.-81 others(36): Show c.-81+11185_-81+11186insATATATATATATATATA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTFR2_chr6_136226034_136255311	136231669	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03540.hp2 HG02723.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	2	418	0.0048	17	c.104 others(34): Show c.1045-298_1045-282dupTTTTTTTTTTTTTTTTT	MTFR2	ENSG00000146410.12	transcript	ENST00000420702.6	protein_coding	7/7			chr6	TogoVar
MTG1_chr10_133389157_133427520	133397779	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02258.hp1 HG02809.hp2 HG00140.hp2 HG02258.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0241 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0241	3	428	0.0070	17	c.283 others(32): Show c.283-640_283-639insTTTTTTTTTTTTTTTTT	MTG1	ENSG00000148824.19	transcript	ENST00000317502.11	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MTG1_chr10_133389157_133427520	133421900	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0201 a0001c0001t0046g0201	1	428	0.0023	17	c.17 others(28): Show c.1737_*1738insGGGGGGGGGGGGGGGGG	MTG1	ENSG00000148824.19	transcript	ENST00000317502.11	protein_coding	11/11	1738	INFO_REALIGN_3_PRIME	chr10	TogoVar
MTG2_chr20_62178028_62208568	62207048	A A	ATTTATAT others(10): Show ATTTATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0227 a0001c0002t0007g0227	1	412	0.0024	17	c.59 others(28): Show c.5971_*5972insTTTATATATATATATAT	MTG2	ENSG00000101181.18	transcript	ENST00000370823.8	protein_coding		3481		chr20	TogoVar
MTHFD1L_chr6_150860702_151106887	150916467	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02258.hp2 HG02723.hp2 HG01192.hp1 HG02258.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0011 a0001c0001t0001 a0001c0002t0011	a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0002t0011g0091 a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0002t0011g0091	3	226	0.0133	17	c.893 others(34): Show c.893-2094_893-2078dupTTTTTTTTTTTTTTTTT	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1L_chr6_150860702_151106887	150923537	A A	ATTTATTT others(10): Show ATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03195.hp2 HG02647.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0082 a0002c0005t0001g0085 a0001c0002t0001g0082 a0002c0005t0001g0085	2	226	0.0089	17	c.108 others(36): Show c.1082+1238_1082+1239insATTTATTTATTTATTTT	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1L_chr6_150860702_151106887	150998995	A A	AAAAAAAA others(10): Show AAAAAAAAAAATGTATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02071.hp2 HG02602.hp2 others(7): Show HG01361.hp1 HG02071.hp2 HG02602.hp2 HG02698.hp2 HG03017.hp1 HG03239.hp2 HG03453.hp2 HG04184.hp1 NA18747.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0014	a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0065 others(7): Show a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0001g0156 a0001c0002t0002g0069 a0001c0002t0004g0217 a0001c0002t0007g0029 a0001c0002t0008g0225 a0001c0002t0014g0204 a0001c0002t0014g0222	10	226	0.0443	17	c.212 others(38): Show c.2126-10823_2126-10822insAAAAAAAAATGTATATA	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1_chr14_64383353_64465025	64463227	A A	ACACACAC others(10): Show ACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18989.hp1 NA19012.hp2 NA18974.hp2 NA18989.hp1 NA19012.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0183 a0001c0001t0001g0251 a0003c0003t0001g0154 a0001c0001t0001g0183 a0001c0001t0001g0251 a0003c0003t0001g0154	3	342	0.0088	17	c.34 others(28): Show c.3473_*3474insCACACACACACACACAC	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding		3203		chr14	TogoVar
MTHFD2L_chr4_74153118_74308099	74208303	A A	ATTCAGTG others(10): Show ATTCAGTGTCTTCTAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(166): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0004 a0001c0004t0001 a0001c0005t0001 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 others(166): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0056 a0001c0001t0002g0115 a0001c0001t0002g0142 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0003g0011 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0046 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0083 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0092 a0001c0001t0003g0101 a0001c0001t0003g0111 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0138 a0001c0001t0003g0148 a0001c0001t0003g0153 a0001c0001t0003g0162 a0001c0001t0003g0167 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0185 a0001c0001t0003g0192 a0001c0001t0003g0199 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0005g0141 a0001c0001t0005g0166 a0001c0001t0006g0103 a0001c0001t0007g0055 a0001c0002t0004g0047 a0001c0004t0001g0012 a0001c0005t0001g0099 a0002c0003t0001g0076	169	200	0.8450	17	c.712 others(34): Show c.712+6935_712+6951dupTCAGTGTCTTCTAAATT	MTHFD2L	ENSG00000163738.19	transcript	ENST00000325278.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTHFD2L_chr4_74153118_74308099	74291003	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02970.hp1 HG03471.hp1 HG01123.hp1 HG02970.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0051 a0001c0001t0001g0180 a0001c0001t0001g0013 a0001c0001t0001g0051 a0001c0001t0001g0180	3	200	0.0150	17	c.931 others(34): Show c.931+9469_931+9485dupTTTTTTTTTTTTTTTTT	MTHFD2L	ENSG00000163738.19	transcript	ENST00000325278.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTHFD2_chr2_74193615_74222565	74203856	G G	GTTTAGTT others(10): Show GTTTAGTTTAGTTTAGTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0211 a0002c0003t0001g0211	1	414	0.0024	17	c.102 others(34): Show c.102-1847_102-1831dupTTAGTTTAGTTTAGTTT	MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTHFD2_chr2_74193615_74222565	74210785	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0276 a0001c0001t0013g0276	1	414	0.0024	17	c.671 others(32): Show c.671-413_671-397dupTTTTTTTTTTTTTTTTT	MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTHFS_chr15_79838547_79902014	79840196	T T	TTTTATAT others(10): Show TTTTATATATATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0007 a0004c0009t0007	a0004c0009t0007g0337 a0004c0009t0007g0337	1	394	0.0025	17	c.50 others(28): Show c.5013_*5014insTATAATATATATATAAA	MTHFS	ENSG00000136371.11	transcript	ENST00000258874.4	protein_coding		3350		chr15	TogoVar
MTMR7_chr8_17291794_17418351	17295257	G G	GTAAGAGG others(10): Show GTAAGAGGCATTTACAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02897.hp1 HG02886.hp2 HG02897.hp1	a0001 a0001	a0001c0010 a0001c0014 a0001c0010 a0001c0014	a0001c0010t0005 a0001c0014t0005 a0001c0010t0005 a0001c0014t0005	a0001c0010t0005g0093 a0001c0014t0005g0067 a0001c0010t0005g0093 a0001c0014t0005g0067	2	360	0.0056	17	c.46 others(28): Show c.4604_*4605insTTTGTAAATGCCTCTTA	MTMR7	ENSG00000003987.14	transcript	ENST00000180173.10	protein_coding		1536		chr8	TogoVar
MTMR7_chr8_17291794_17418351	17366885	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01433.hp2 HG02559.hp1 others(10): Show HG01192.hp2 HG01433.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03486.hp1 HG03540.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0002t0016 a0001c0002t0045 a0001c0016t0001	a0001c0001t0001g0172 a0001c0001t0001g0210 a0001c0002t0002g0014 others(10): Show a0001c0001t0001g0172 a0001c0001t0001g0210 a0001c0002t0002g0014 a0001c0002t0002g0072 a0001c0002t0002g0095 a0001c0002t0002g0102 a0001c0002t0006g0322 a0001c0002t0011g0025 a0001c0002t0011g0069 a0001c0002t0011g0071 a0001c0002t0016g0066 a0001c0002t0045g0090 a0001c0016t0001g0165	13	360	0.0361	17	c.310 others(34): Show c.310+4151_310+4152insTTTTTTTTTTTTTTTTT	MTMR7	ENSG00000003987.14	transcript	ENST00000180173.10	protein_coding	3/13			chr8	TogoVar
MTMR7_chr8_17291794_17418351	17366886	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	360	0.0028	17	c.310 others(34): Show c.310+4150_310+4151insGTTTGTTTTTTTTTTTT	MTMR7	ENSG00000003987.14	transcript	ENST00000180173.10	protein_coding	3/13			chr8	TogoVar
MTMR7_chr8_17291794_17418351	17408395	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0161 a0001c0002t0013g0161	1	360	0.0028	17	c.24+ others(32): Show c.24+4857_24+4873dupTTTTTTTTTTTTTTTTT	MTMR7	ENSG00000003987.14	transcript	ENST00000180173.10	protein_coding	1/13			chr8	TogoVar
MTMR8_chrX_64263081_64400452	64362471	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	190	0.0053	17	c.25- others(32): Show c.25-2961_25-2945dupTTTTTTTTTTTTTTTTT	MTMR8	ENSG00000102043.16	transcript	ENST00000374852.4	protein_coding	1/13			chrX	TogoVar
MTMR9_chr8_11279816_11333146	11324328	C C	CAGCCCAC others(10): Show CAGCCCACAGTCCACAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02257.hp1 HG02280.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0011 a0001c0003 a0006c0011	a0001c0003t0030 a0006c0011t0053 a0001c0003t0030 a0006c0011t0053	a0001c0003t0030g0043 a0006c0011t0053g0070 a0001c0003t0030g0043 a0006c0011t0053g0070	2	348	0.0058	17	c.15 others(28): Show c.1541_*1557dupAGCCCACAGTCCACAGT	MTMR9	ENSG00000104643.10	transcript	ENST00000221086.8	protein_coding	10/10	1558	INFO_REALIGN_3_PRIME	chr8	TogoVar
MTOR_chr1_11101535_11267551	11154068	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0104 a0001c0009t0003g0104	1	256	0.0039	17	c.446 others(36): Show c.4469+3067_4469+3083dupTTTTTTTTTTTTTTTTT	MTOR	ENSG00000198793.14	transcript	ENST00000361445.9	protein_coding	30/57			chr1	TogoVar
MTRES1_chr6_107023199_107056586	107027821	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	406	0.0025	17	c.-46 others(26): Show c.-463_-462insAAAAAAAAAAAAAAAAG	MTRES1	ENSG00000130349.10	transcript	ENST00000311381.8	protein_coding		377		chr6	TogoVar
MTRF1L_chr6_152982362_153007709	152982444	G G	GGGCTTCT others(10): Show GGGCTTCTCGCTCGCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0111	1	467	0.0021	17	c.74 others(28): Show c.7434_*7450dupGCTGCGAGCGAGAAGCC	MTRF1L	ENSG00000112031.16	transcript	ENST00000367233.10	protein_coding		4917		chr6	TogoVar
MTUS1_chr8_17638802_17806094	17641896	T T	TCCCCGCC others(10): Show TCCCCGCCCCCCCCAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0012 a0012	a0012c0036 a0012c0036	a0012c0036t0002 a0012c0036t0002	a0012c0036t0002g0002 a0012c0036t0002g0002	1	330	0.0030	17	c.40 others(28): Show c.4029_*4030insGGTTGGGGGGGGCGGGG	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding		1905		chr8	TogoVar
MTUS1_chr8_17638802_17806094	17641896	T T	TCCCCGCC others(10): Show TCCCCGCCCCCCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(136): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA18999.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0011 a0012 a0015 a0017 a0018 a0024 a0029 a0033 a0034 a0036	a0001c0001 a0001c0002 a0001c0003 others(49): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0001c0017 a0001c0024 a0001c0026 a0001c0031 a0001c0037 a0001c0064 a0001c0065 a0001c0076 a0001c0077 a0001c0079 a0001c0087 a0002c0008 a0002c0009 a0002c0010 a0002c0021 a0002c0029 a0002c0094 a0002c0099 a0002c0100 a0003c0006 a0003c0013 a0003c0015 a0003c0043 a0003c0091 a0003c0095 a0004c0018 a0004c0027 a0004c0032 a0005c0016 a0005c0055 a0005c0057 a0007c0053 a0008c0023 a0011c0046 a0012c0036 a0012c0080 a0015c0045 a0017c0047 a0017c0048 a0018c0074 a0024c0058 a0029c0081 a0033c0049 a0034c0084 a0036c0054	a0001c0001t0001 a0001c0001t0008 a0001c0001t0037 others(69): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0037 a0001c0002t0001 a0001c0002t0053 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0004t0001 a0001c0004t0002 a0001c0004t0026 a0001c0004t0031 a0001c0004t0041 a0001c0005t0004 a0001c0005t0008 a0001c0005t0019 a0001c0007t0003 a0001c0007t0022 a0001c0011t0001 a0001c0011t0021 a0001c0017t0003 a0001c0017t0040 a0001c0024t0003 a0001c0026t0004 a0001c0031t0004 a0001c0037t0004 a0001c0064t0004 a0001c0065t0001 a0001c0076t0004 a0001c0077t0029 a0001c0079t0039 a0001c0087t0001 a0002c0008t0001 a0002c0008t0004 a0002c0009t0002 a0002c0010t0002 a0002c0010t0024 a0002c0021t0003 a0002c0029t0001 a0002c0094t0015 a0002c0099t0003 a0002c0100t0004 a0003c0006t0002 a0003c0006t0008 a0003c0013t0001 a0003c0013t0002 a0003c0015t0003 a0003c0015t0032 a0003c0015t0044 a0003c0043t0001 a0003c0091t0001 a0003c0095t0003 a0004c0018t0004 a0004c0027t0019 a0004c0032t0004 a0005c0016t0001 a0005c0055t0001 a0005c0057t0003 a0007c0053t0004 a0008c0023t0002 a0011c0046t0001 a0012c0036t0002 a0012c0080t0001 a0015c0045t0002 a0017c0047t0015 a0017c0048t0008 a0018c0074t0001 a0024c0058t0051 a0029c0081t0042 a0033c0049t0015 a0034c0084t0050 a0036c0054t0008	a0001c0001t0001g0001 a0001c0001t0001g0132 a0001c0001t0001g0148 others(136): Show a0001c0001t0001g0001 a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0008g0256 a0001c0001t0008g0258 a0001c0001t0037g0253 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0107 a0001c0002t0001g0142 a0001c0002t0053g0120 a0001c0003t0001g0228 a0001c0003t0001g0267 a0001c0003t0002g0135 a0001c0003t0002g0215 a0001c0003t0002g0217 a0001c0003t0002g0225 a0001c0003t0002g0227 a0001c0003t0002g0232 a0001c0003t0002g0234 a0001c0003t0002g0264 a0001c0003t0008g0222 a0001c0004t0001g0058 a0001c0004t0001g0119 a0001c0004t0002g0059 a0001c0004t0002g0062 a0001c0004t0002g0075 a0001c0004t0002g0114 a0001c0004t0002g0115 a0001c0004t0026g0126 a0001c0004t0031g0164 a0001c0004t0041g0312 a0001c0005t0004g0184 a0001c0005t0008g0042 a0001c0005t0019g0307 a0001c0007t0003g0143 a0001c0007t0003g0206 a0001c0007t0003g0211 a0001c0007t0003g0265 a0001c0007t0003g0297 a0001c0007t0022g0204 a0001c0011t0001g0074 a0001c0011t0021g0061 a0001c0011t0021g0105 a0001c0017t0003g0071 a0001c0017t0003g0231 a0001c0017t0040g0076 a0001c0024t0003g0054 a0001c0024t0003g0083 a0001c0024t0003g0130 a0001c0026t0004g0247 a0001c0031t0004g0051 a0001c0037t0004g0294 a0001c0064t0004g0195 a0001c0065t0001g0304 a0001c0076t0004g0323 a0001c0077t0029g0242 a0001c0079t0039g0275 a0001c0087t0001g0287 a0002c0008t0001g0035 a0002c0008t0001g0157 a0002c0008t0001g0160 a0002c0008t0001g0280 a0002c0008t0001g0283 a0002c0008t0004g0150 a0002c0009t0002g0106 a0002c0009t0002g0230 a0002c0009t0002g0285 a0002c0009t0002g0286 a0002c0010t0002g0260 a0002c0010t0024g0049 a0002c0021t0003g0040 a0002c0029t0001g0069 a0002c0029t0001g0070 a0002c0094t0015g0310 a0002c0099t0003g0041 a0002c0100t0004g0303 a0003c0006t0002g0029 a0003c0006t0002g0173 a0003c0006t0002g0319 a0003c0006t0008g0250 a0003c0013t0001g0091 a0003c0013t0002g0221 a0003c0015t0003g0050 a0003c0015t0003g0103 a0003c0015t0003g0174 a0003c0015t0032g0030 a0003c0015t0044g0233 a0003c0043t0001g0087 a0003c0091t0001g0022 a0003c0095t0003g0088 a0004c0018t0004g0015 a0004c0018t0004g0016 a0004c0018t0004g0017 a0004c0027t0019g0329 a0004c0032t0004g0010 a0004c0032t0004g0011 a0005c0016t0001g0004 a0005c0016t0001g0067 a0005c0016t0001g0161 a0005c0055t0001g0094 a0005c0057t0003g0068 a0007c0053t0004g0309 a0008c0023t0002g0127 a0008c0023t0002g0251 a0011c0046t0001g0179 a0012c0036t0002g0212 a0012c0080t0001g0213 a0015c0045t0002g0271 a0015c0045t0002g0272 a0017c0047t0015g0181 a0017c0048t0008g0178 a0018c0074t0001g0003 a0024c0058t0051g0146 a0029c0081t0042g0268 a0033c0049t0015g0046 a0034c0084t0050g0296 a0036c0054t0008g0198	139	330	0.4212	17	c.40 others(28): Show c.4029_*4030insGGTGGGGGGGGGCGGGG	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding		1905		chr8	TogoVar
MTUS1_chr8_17638802_17806094	17641896	T T	TCCCCGCC others(10): Show TCCCCGCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02258.hp1 HG01099.hp2 HG02258.hp1	a0003 a0010 a0003 a0010	a0003c0041 a0010c0038 a0003c0041 a0010c0038	a0003c0041t0002 a0010c0038t0002 a0003c0041t0002 a0010c0038t0002	a0003c0041t0002g0012 a0010c0038t0002g0302 a0003c0041t0002g0012 a0010c0038t0002g0302	2	330	0.0061	17	c.40 others(28): Show c.4029_*4030insGGGGGGGGGGGGCGGGG	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding		1905		chr8	TogoVar
MTUS1_chr8_17638802_17806094	17742311	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0005 a0001c0014t0005	a0001c0014t0005g0257 a0001c0014t0005g0257	1	330	0.0030	17	c.228 others(36): Show c.2287+1292_2287+1293insTAAAAAAAAAAAAAAAA	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding	3/14			chr8	TogoVar
MTUS1_chr8_17638802_17806094	17767706	A A	AAAAAAAC others(10): Show AAAAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0007 a0007	a0007c0052 a0007c0052	a0007c0052t0030 a0007c0052t0030	a0007c0052t0030g0021 a0007c0052t0030g0021	1	330	0.0030	17	c.-15 others(38): Show c.-154-11746_-154-11745insGTTTTGTTTTGTTTTTT	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding	1/14			chr8	TogoVar
MTUS2_chr13_28815339_29510947	29071409	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0058 a0002c0002t0004g0058	1	92	0.0109	17	c.244 others(38): Show c.2447-29346_2447-29330dupTTTTTTTTTTTTTTTTT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29244955	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0050 a0002c0002t0027g0050	1	92	0.0109	17	c.264 others(38): Show c.2645-36739_2645-36723dupAAAAAAAAAAAAAAAAA	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29442632	G G	GAAGTTCA others(10): Show GAAGTTCACATGGTATCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18988.hp1 HG00280.hp1 NA18988.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0015 a0001c0001 a0008c0015	a0001c0001t0002 a0008c0015t0004 a0001c0001t0002 a0008c0015t0004	a0001c0001t0002g0080 a0008c0015t0004g0002 a0001c0001t0002g0080 a0008c0015t0004g0002	2	92	0.0217	17	c.318 others(36): Show c.3184+2583_3184+2584insAAGTTCACATGGTATCC	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	9/15			chr13	TogoVar
MTUS2_chr13_28815339_29510947	29442632	G G	GGAGTTCA others(10): Show GGAGTTCACATGGTATCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(75): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01175.hp1 HG01175.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18944.hp1 NA18944.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0005 a0001c0010 others(16): Show a0001c0001 a0001c0005 a0001c0010 a0001c0012 a0002c0002 a0003c0003 a0003c0009 a0004c0008 a0004c0016 a0004c0019 a0004c0020 a0005c0006 a0006c0007 a0009c0014 a0010c0013 a0011c0021 a0012c0022 a0014c0023 a0015c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0005t0001 a0001c0005t0003 a0001c0005t0014 a0001c0010t0006 a0001c0012t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0024 a0002c0002t0025 a0002c0002t0027 a0002c0002t0028 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0008 a0003c0009t0020 a0003c0009t0029 a0004c0008t0001 a0004c0016t0012 a0004c0019t0001 a0004c0020t0001 a0005c0006t0002 a0005c0006t0005 a0006c0007t0002 a0006c0007t0010 a0006c0007t0018 a0009c0014t0003 a0010c0013t0002 a0011c0021t0008 a0012c0022t0007 a0014c0023t0022 a0015c0017t0001	a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 others(75): Show a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0002g0048 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0003g0086 a0001c0001t0003g0091 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0005g0021 a0001c0001t0005g0031 a0001c0001t0007g0020 a0001c0001t0007g0022 a0001c0001t0010g0090 a0001c0001t0011g0010 a0001c0001t0013g0073 a0001c0001t0016g0029 a0001c0001t0017g0025 a0001c0001t0021g0016 a0001c0001t0030g0033 a0001c0001t0031g0032 a0001c0001t0032g0034 a0001c0001t0033g0087 a0001c0005t0001g0074 a0001c0005t0003g0018 a0001c0005t0014g0026 a0001c0010t0006g0004 a0001c0012t0010g0068 a0002c0002t0001g0014 a0002c0002t0001g0070 a0002c0002t0002g0057 a0002c0002t0003g0012 a0002c0002t0003g0035 a0002c0002t0003g0063 a0002c0002t0003g0066 a0002c0002t0004g0039 a0002c0002t0004g0058 a0002c0002t0005g0019 a0002c0002t0006g0065 a0002c0002t0008g0092 a0002c0002t0009g0067 a0002c0002t0011g0064 a0002c0002t0012g0003 a0002c0002t0013g0011 a0002c0002t0024g0059 a0002c0002t0025g0079 a0002c0002t0027g0050 a0002c0002t0028g0062 a0003c0003t0001g0037 a0003c0003t0001g0075 a0003c0003t0003g0009 a0003c0003t0004g0061 a0003c0003t0008g0069 a0003c0009t0020g0052 a0003c0009t0029g0005 a0004c0008t0001g0007 a0004c0016t0012g0076 a0004c0019t0001g0015 a0004c0020t0001g0017 a0005c0006t0002g0049 a0005c0006t0005g0024 a0006c0007t0002g0060 a0006c0007t0010g0081 a0006c0007t0018g0028 a0009c0014t0003g0001 a0010c0013t0002g0055 a0011c0021t0008g0051 a0012c0022t0007g0023 a0014c0023t0022g0053 a0015c0017t0001g0006	78	92	0.8478	17	c.318 others(36): Show c.3184+2583_3184+2584insGAGTTCACATGGTATCC	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	9/15			chr13	TogoVar
MTUS2_chr13_28815339_29510947	29442634	A A	AGTTCACA others(10): Show AGTTCACATGGTATCCGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03041.hp2 HG03195.hp2 others(6): Show HG02615.hp1 HG03041.hp2 HG03195.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG06807.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0013	a0001c0001 a0002c0002 a0002c0011 others(4): Show a0001c0001 a0002c0002 a0002c0011 a0004c0008 a0005c0006 a0007c0004 a0013c0018	a0001c0001t0003 a0002c0002t0004 a0002c0002t0026 others(6): Show a0001c0001t0003 a0002c0002t0004 a0002c0002t0026 a0002c0011t0023 a0004c0008t0009 a0005c0006t0009 a0007c0004t0001 a0007c0004t0002 a0013c0018t0015	a0001c0001t0003g0038 a0002c0002t0004g0008 a0002c0002t0026g0036 others(6): Show a0001c0001t0003g0038 a0002c0002t0004g0008 a0002c0002t0026g0036 a0002c0011t0023g0041 a0004c0008t0009g0072 a0005c0006t0009g0089 a0007c0004t0001g0088 a0007c0004t0002g0013 a0013c0018t0015g0027	9	92	0.0978	17	c.318 others(36): Show c.3184+2585_3184+2586insGTTCACATGGTATCCGC	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	9/15			chr13	TogoVar
MUC21_chr6_30978718_30994903	30980984	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG03927.hp2 NA19068.hp2 HG01433.hp1 HG03927.hp2 NA19068.hp2	a0003 a0003	a0003c0005 a0003c0008 a0003c0005 a0003c0008	a0003c0005t0002 a0003c0005t0008 a0003c0008t0002 a0003c0005t0002 a0003c0005t0008 a0003c0008t0002	a0003c0005t0002g0003 a0003c0005t0008g0003 a0003c0008t0002g0003 a0003c0005t0002g0003 a0003c0005t0008g0003 a0003c0008t0002g0003	3	448	0.0067	17	c.-29 others(28): Show c.-2975_-2974insTTTTTTTTTTTTTTTTT	MUC21	ENSG00000204544.5	transcript	ENST00000376296.3	protein_coding		2733		chr6	TogoVar
MUC4_chr3_195741771_195816929	195751541	G G	GAATGGCC others(10): Show GAATGGCCCCTACCTTGC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0129 a0129	a0129c0060 a0129c0060	a0129c0060t0001 a0129c0060t0001	a0129c0060t0001g0161 a0129c0060t0001g0161	1	249	0.0040	17	c.155 others(36): Show c.15583-287_15583-271dupGCAAGGTAGGGGCCATT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	21/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195758573	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp2 HG02258.hp2 HG02976.hp2	a0075 a0096 a0075 a0096	a0075c0201 a0096c0199 a0075c0201 a0096c0199	a0075c0201t0009 a0096c0199t0009 a0075c0201t0009 a0096c0199t0009	a0075c0201t0009g0224 a0096c0199t0009g0243 a0075c0201t0009g0224 a0096c0199t0009g0243	2	249	0.0080	17	c.149 others(36): Show c.14986+550_14986+551insAAAAAAAAAAAAAAAAA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	17/24			chr3	TogoVar
MUC5AC_chr11_1152953_1206138	1170377	C C	CCACTCAC others(10): Show CCACTCACTCACCTCACT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0030 a0030	a0030c0036 a0030c0036	a0030c0036t0002 a0030c0036t0002	a0030c0036t0002g0047 a0030c0036t0002g0047	1	292	0.0034	17	c.187 others(36): Show c.1870+1358_1870+1359insTCACCTCACTCACTCAC	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	15/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUCL3_chr6_30935973_30959221	30957361	C C	CTTCATCT others(10): Show CTTCATCTTCCCCTTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	441	0.0023	17	c.42 others(28): Show c.4244_*4245insTTCATCTTCCCCTTCCA	MUCL3	ENSG00000168631.14	transcript	ENST00000462446.6	protein_coding		3141		chr6	TogoVar
MUSK_chr9_110663791_110811558	110689708	T T	TATATATT others(10): Show TATATATTTTATATATAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0175 a0001c0001t0009g0175	1	326	0.0031	17	c.358 others(34): Show c.358+2441_358+2442insTATATTTTATATATAAA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar

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