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
MAP7_chr6_136337734_136555422	136456822	G G	GAAGGAAG others(20): Show GAAGGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	114	0.0088	27	c.68- others(44): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCTTCCTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAPK6_chr15_52014219_52072375	52030611	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0018 a0001c0002t0005g0018	1	66	0.0152	27	c.-63 others(48): Show c.-632+11239_-632+11265dupTTTTTTTTTTTTTTTTTTTTTTTT TTT	MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPK8_chr10_48301677_48444360	48324503	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTGGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp1 HG01255.hp1 others(12): Show HG01099.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01517.hp1 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02071.hp1 HG02129.hp2 HG02698.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0086 a0001c0001t0006g0252 a0001c0001t0006g0253 others(12): Show a0001c0001t0006g0086 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0001t0006g0255 a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0006g0258 a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0267	15	88	0.1705	27	c.-50 others(46): Show c.-50+17695_-50+17696insGGTTTTTTTTTTTTTTTTTTTTTTTT T	MAPK8	ENSG00000107643.17	transcript	ENST00000374189.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02630.hp2 HG03654.hp2 others(1): Show HG02293.hp2 HG02630.hp2 HG03654.hp2 NA18961.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0006 a0003c0004t0003 a0003c0004t0006	a0003c0004t0003g0012 a0003c0004t0003g0039 a0003c0004t0003g0066 others(1): Show a0003c0004t0003g0012 a0003c0004t0003g0039 a0003c0004t0003g0066 a0003c0004t0006g0068	4	116	0.0345	27	c.114 others(46): Show c.114+11389_114+11390insAAAAAAATATATATATATATATATAT A	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0073 a0003c0004t0011g0073	1	113	0.0088	27	c.114 others(46): Show c.114+11389_114+11390insAAAAATATATATATATATATATATAT A	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18998.hp1 NA18906.hp2 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0022 a0001c0001t0004 a0002c0002t0022	a0001c0001t0004g0145 a0002c0002t0022g0203 a0001c0001t0004g0145 a0002c0002t0022g0203	2	114	0.0175	27	c.114 others(46): Show c.114+11389_114+11390insAAATATATATATATATATATATATAT A	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0003 a0013c0023t0003	a0013c0023t0003g0091 a0013c0023t0003g0091	1	113	0.0088	27	c.114 others(46): Show c.114+11388_114+11389insTATATATATATATATATATATATATA T	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30			chr15	TogoVar
MAPT_chr17_45889554_46033334	45946615	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0020 a0003c0004t0004g0020	1	204	0.0049	27	c.-17 others(46): Show c.-17-15705_-17-15704insAAAAAAAAATATATATATATATATAT A	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45946615	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02602.hp1 HG01099.hp2 HG02602.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0001 a0003c0004t0004g0011 a0003c0004t0004g0001 a0003c0004t0004g0011	2	205	0.0098	27	c.-17 others(46): Show c.-17-15705_-17-15704insAAAAAAATATATATATATATATATAT A	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	46017440	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0007 a0015c0013t0007	a0015c0013t0007g0040 a0015c0013t0007g0040	1	9	0.1111	27	c.217 others(46): Show c.2174-1174_2174-1148dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62723559	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp2 NA19090.hp2 NA19002.hp1 NA19002.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0001g0106 a0001c0001t0002g0161 a0001c0001t0001g0041 a0001c0001t0001g0106 a0001c0001t0002g0161	3	96	0.0313	27	c.210 others(44): Show c.2105-963_2105-962insAAAAAAAAAAAAAAAAAAAAAAAAAAA	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10			chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163894652	C C	CATATATA others(20): Show CATATATATATATGCATGTGATGCATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03540.hp2 HG02451.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0038 a0001c0001t0006g0098 a0001c0001t0001g0038 a0001c0001t0006g0098	2	6	0.3333	27	c.-38 others(46): Show c.-38-40484_-38-40483insATATGCATCACATGCATATATATATA T	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894671	C C	CATATATA others(20): Show CATATATATATATGCATGTGATGCATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02080.hp2 HG02165.hp2 others(4): Show HG01496.hp2 HG02080.hp2 HG02165.hp2 HG02523.hp1 HG02559.hp1 HG03540.hp1 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 a0002c0003t0010 a0002c0004t0003	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0004g0100 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0004g0100 a0001c0001t0006g0087 a0001c0001t0023g0093 a0002c0003t0010g0058 a0002c0004t0003g0081	7	15	0.4667	27	c.-38 others(46): Show c.-38-40503_-38-40502insATATGCATCACATGCATATATATATA T	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01884.hp2 HG02897.hp2 others(7): Show HG00438.hp2 HG01884.hp2 HG02897.hp2 HG03017.hp1 NA18962.hp2 NA18977.hp1 NA18981.hp2 NA18990.hp2 NA18998.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 a0001c0001t0036	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0101 others(7): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0002g0024 a0001c0001t0002g0228 a0001c0001t0004g0136 a0001c0001t0027g0253 a0001c0001t0036g0202	10	53	0.1887	27	c.37 others(38): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAGAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	44	0.0227	27	c.37 others(38): Show c.3752_*3753insTTTTTTTTTTTTTCTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126866885	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03041.hp2 HG01884.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0048 a0001c0001t0047 a0001c0001t0048	a0001c0001t0047g0214 a0001c0001t0048g0235 a0001c0001t0047g0214 a0001c0001t0048g0235	2	291	0.0069	27	c.37 others(38): Show c.3747_*3748insCTTTTTTTTTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		828		chr5	TogoVar
MARCHF4_chr2_216252865_216377483	216336742	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	89	0.0112	27	c.516 others(46): Show c.516+33002_516+33003insTTTTTTTTTTTTTTTTTTTTTTTTTT T	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARK3_chr14_103380415_103508831	103452471	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18994.hp2 HG01978.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0144 a0001c0001t0002g0147	2	142	0.0141	27	c.412 others(42): Show c.412+506_412+507insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARS1_chr12_57483068_57521652	57493872	A A	ATATAATA others(20): Show ATATAATATATAATATATATATTTATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	120	0.0083	27	c.770 others(44): Show c.770+3232_770+3233insATATATAATATATATATTTATATTATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARVELD2_chr5_69410116_69449330	69444009	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG06807.hp1 NA18522.hp1 HG02615.hp2 HG06807.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0029 a0002c0002t0033 a0002c0002t0026 a0002c0002t0029 a0002c0002t0033	a0002c0002t0026g0038 a0002c0002t0029g0038 a0002c0002t0033g0031 a0002c0002t0026g0038 a0002c0002t0029g0038 a0002c0002t0033g0031	3	64	0.0469	27	c.23 others(38): Show c.2368_*2369insAAAAAAAAAAAAAAAAAAAAAAAAAAA	MARVELD2	ENSG00000152939.17	transcript	ENST00000325631.10	protein_coding	7/7	2369	INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST2_chr1_45798612_46041122	45888663	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	2	0.5000	27	c.500 others(44): Show c.500+6278_500+6304dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST3_chr19_18092778_18156687	18100128	C C	CTCTCTTT others(20): Show CTCTCTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	114	0.0088	27	c.39+ others(42): Show c.39+2298_39+2299insCTCTTTTTTTTTTTTTTTTTTTTTTTT	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAT2B_chr5_163500619_163524354	163520507	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02895.hp2 HG01884.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0061 a0001c0001t0001g0032 a0001c0001t0001g0061	2	43	0.0465	27	c.21 others(38): Show c.2144_*2145insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MAT2B	ENSG00000038274.18	transcript	ENST00000321757.11	protein_coding		1154		chr5	TogoVar
MATCAP2_chr7_36319152_36372240	36337098	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0156 a0003c0005t0004g0156	1	20	0.0500	27	c.715 others(42): Show c.715-828_715-802dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	2/6			chr7	TogoVar
MATK_chr19_3772973_3791381	3776706	G G	GGGTGGAT others(20): Show GGGTGGATGGATGAGTGGATAGTGGGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0078 a0001c0001t0007g0078	1	432	0.0023	27	c.14 others(38): Show c.1476_*1477insTACCCACTATCCACTCATCCATCCACC	MATK	ENSG00000007264.15	transcript	ENST00000310132.11	protein_coding		1266		chr19	TogoVar
MATN3_chr2_19987052_20017668	20010064	T T	TCCAAAAA others(20): Show TCCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0273 a0001c0002t0002g0273	1	425	0.0024	27	c.223 others(44): Show c.223+2344_223+2345insTTTTTTTTTTTTTTTTTTTTTTTTTGG	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN3_chr2_19987052_20017668	20010066	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0274 a0001c0003t0001g0274	1	422	0.0024	27	c.223 others(44): Show c.223+2342_223+2343insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02071.hp1 HG02074.hp1 others(11): Show HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02145.hp2 HG02523.hp1 HG03098.hp2 HG03139.hp2 NA18939.hp2 NA18961.hp2 NA18968.hp2 NA18978.hp2 NA18995.hp1 NA19007.hp2 NA19081.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0006 a0001c0001 a0002c0003 a0005c0006	a0001c0001t0001 a0002c0003t0001 a0005c0006t0001 a0001c0001t0001 a0002c0003t0001 a0005c0006t0001	a0001c0001t0001g0035 a0001c0001t0001g0097 a0001c0001t0001g0098 others(6): Show a0001c0001t0001g0035 a0001c0001t0001g0097 a0001c0001t0001g0098 a0002c0003t0001g0016 a0002c0003t0001g0050 a0002c0003t0001g0217 a0002c0003t0001g0218 a0002c0003t0001g0219 a0005c0006t0001g0099	14	21	0.6667	27	c.-34 others(42): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MBD1_chr18_50263846_50286523	50277930	G G	GAATTGGG others(20): Show GAATTGGGATTCAGAAACTGGCACAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0082 a0002c0003t0001g0082	1	400	0.0025	27	c.111 others(42): Show c.111-753_111-727dupTTTTGTGCCAGTTTCTGAATCCCAATT	MBD1	ENSG00000141644.19	transcript	ENST00000269468.10	protein_coding	2/16			chr18	TogoVar
MBD2_chr18_54146606_54229669	54227025	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0031 a0001c0001t0008g0031	1	282	0.0035	27	c.-24 others(38): Show c.-2467_-2466insATATATATATATATATATATATATATA	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding		2357		chr18	TogoVar
MBD3L1_chr19_8827377_8848319	8838252	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	104	0.0096	27	c.-10 others(46): Show c.-106-2658_-106-2632dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	MBD3L1	ENSG00000170948.4	transcript	ENST00000595891.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062074	A A	AATATAAT others(20): Show AATATAATTATATTATATATAATTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 NA20805.hp1 HG03831.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	280	0.0071	27	c.-34 others(38): Show c.-3496_-3470dupATATAATTATATATAATATAATTATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3399		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062142	A A	ATATATAA others(20): Show ATATATAATTATATATATAATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01517.hp1 HG01071.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	202	0.0099	27	c.-35 others(38): Show c.-3538_-3537insATATATAATTATATATATAATTATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3467		chr19	TogoVar
MBD5_chr2_148016091_148521971	148294502	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTGTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01978.hp2 others(7): Show HG00738.hp1 HG00741.hp2 HG01978.hp2 HG02004.hp2 HG02683.hp1 HG03579.hp2 NA18945.hp2 NA19066.hp2 NA19079.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0013 a0001c0001 a0001c0002 a0002c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0030 a0001c0002t0003 a0002c0013t0002	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0037 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0003g0007 a0001c0001t0015g0023 a0001c0001t0030g0186 a0001c0002t0003g0141 a0002c0013t0002g0025	10	185	0.0541	27	c.-67 others(48): Show c.-679-47700_-679-47699insGTTTTTTTTTTTTTGTTTTTTTTT TTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBNL2_chr13_97217333_97399120	97339122	T T	TCTGTAGT others(20): Show TCTGTAGTGTATCTGTGTTGCATGTGTA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18967.hp2 NA18951.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0235 a0001c0002t0001g0237	2	252	0.0079	27	c.340 others(44): Show c.340-3894_340-3893insCTGTAGTGTATCTGTGTTGCATGTGTA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	3/8			chr13	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	137	0.0073	27	c.41 others(38): Show c.4153_*4154insATATATATATTTTTTTTTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0203 a0001c0001t0053g0203	1	137	0.0073	27	c.41 others(38): Show c.4153_*4154insATATATATATATATATATTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	137	0.0073	27	c.41 others(38): Show c.4153_*4154insATATATATATATATATATATTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	137	0.0073	27	c.41 others(38): Show c.4153_*4154insATATATATATATATATATATATTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	39	0.0256	27	c.-25 others(38): Show c.-2544_-2543insATATATATATATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02055.hp1 HG02109.hp2 others(5): Show HG00735.hp2 HG02055.hp1 HG02109.hp2 HG03486.hp1 HG06807.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0001g0000 a0001c0001t0003g0000	8	46	0.1739	27	c.-25 others(38): Show c.-2544_-2543insAAAAAAAAATATATATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCC_chr5_113017106_113493453	113046685	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0098 a0001c0004t0002g0098	1	56	0.0179	27	c.265 others(46): Show c.2655+2407_2655+2408insTTTTTTTTTTTTTTTTTTTTTTTTTT T	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	16/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113327561	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0046 a0005c0032t0046	a0005c0032t0046g0006 a0005c0032t0046g0006	1	85	0.0118	27	c.627 others(46): Show c.627+12957_627+12958insATATATATATATATATATATATATAT T	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113354802	A A	ATTATTAT others(20): Show ATTATTATTATTATTATTATTATTATTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01884.hp1 HG02572.hp2 others(5): Show HG00733.hp1 HG01884.hp1 HG02572.hp2 HG02818.hp1 HG03041.hp2 HG03453.hp2 HG04115.hp2 HG04199.hp1	a0003 a0004 a0003 a0004	a0003c0005 a0003c0014 a0003c0015 others(4): Show a0003c0005 a0003c0014 a0003c0015 a0003c0020 a0003c0031 a0003c0040 a0004c0019	a0003c0005t0012 a0003c0014t0005 a0003c0015t0036 others(5): Show a0003c0005t0012 a0003c0014t0005 a0003c0015t0036 a0003c0020t0020 a0003c0031t0021 a0003c0040t0001 a0004c0019t0004 a0004c0019t0014	a0003c0005t0012g0009 a0003c0014t0005g0026 a0003c0015t0036g0018 others(5): Show a0003c0005t0012g0009 a0003c0014t0005g0026 a0003c0015t0036g0018 a0003c0020t0020g0004 a0003c0031t0021g0003 a0003c0040t0001g0008 a0004c0019t0004g0112 a0004c0019t0014g0117	8	87	0.0920	27	c.416 others(46): Show c.416-14073_416-14072insCAATAATAATAATAATAATAATAATA A	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	2/18			chr5	TogoVar
MCEMP1_chr19_7672090_7684829	7674859	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02165.hp1 NA19077.hp2 HG02055.hp2 HG02165.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0002g0011 a0001c0001t0001g0009 a0001c0001t0002g0011	3	51	0.0588	27	c.-22 others(38): Show c.-2262_-2261insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MCEMP1	ENSG00000183019.8	transcript	ENST00000333598.8	protein_coding		2230		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183269230	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0158 a0002c0002t0016g0158	1	78	0.0128	27	c.186 others(46): Show c.1862+7641_1862+7642insAAAAAAAAAAAAAAAAAAAAAAAAAA A	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183360986	A A	AAGAGAAG others(20): Show AAGAGAAGAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18941.hp2 NA18969.hp1 HG04184.hp1 NA18941.hp2 NA18969.hp1	a0001 a0003 a0026 a0001 a0003 a0026	a0001c0001 a0003c0003 a0026c0019 a0001c0001 a0003c0003 a0026c0019	a0001c0001t0001 a0003c0003t0003 a0026c0019t0001 a0001c0001t0001 a0003c0003t0003 a0026c0019t0001	a0001c0001t0001g0018 a0003c0003t0003g0049 a0026c0019t0001g0032 a0001c0001t0001g0018 a0003c0003t0003g0049 a0026c0019t0001g0032	3	174	0.0172	27	c.275 others(46): Show c.275+18310_275+18311insCTTCTCTTCTCTTCTCTTCTCTTCTC T	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	3/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113025495	T T	TTGGGGCA others(20): Show TTGGGGCAGAGTCCCTGTGACTGTGAGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp1 NA18522.hp1 HG02486.hp2 HG03098.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0007 a0001c0005t0026 a0001c0010t0022 a0001c0001t0007 a0001c0005t0026 a0001c0010t0022	a0001c0001t0007g0017 a0001c0005t0026g0016 a0001c0010t0022g0015 a0001c0001t0007g0017 a0001c0005t0026g0016 a0001c0010t0022g0015	3	68	0.0441	27	c.278 others(42): Show c.278+737_278+738insTGGGGCAGAGTCCCTGTGACTGTGAGA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29			chr13	TogoVar
MCF2L_chr13_112964214_113104742	113040437	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	114	0.0088	27	c.279 others(44): Show c.279-4834_279-4833insGTGTGTGTGTGTGTGTGTGTGTGTGTG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29			chr13	TogoVar
MCM2_chr3_127593411_127627436	127624266	T T	TTCCTCCT others(20): Show TTCCTCCTGTCTCCTTTGCCTGATTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	424	0.0024	27	c.24 others(38): Show c.2493_*2494insTCCTCCTGTCTCCTTTGCCTGATTCAA	MCM2	ENSG00000073111.14	transcript	ENST00000265056.12	protein_coding		1831		chr3	TogoVar

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