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
MARS1_chr12_57483068_57521652	57493637	T T	TATATAAT others(40): Show TATATAATATATTATAATATATAATATATAATATATTATAATATATTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0228 a0001c0001t0001g0229	2	271	0.0074	47	c.770 others(64): Show c.770+2993_770+2994insATATAATATATTATAATATATAATATAT AATATATTATAATATATTA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20			chr12	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(40): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0220 a0001c0001t0005g0220	1	137	0.0073	47	c.41 others(58): Show c.4153_*4154insATATATATATATATATATATATATATATATATAT ATATTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	137	0.0073	47	c.41 others(58): Show c.4153_*4154insATATATATATATATATATATATATATATATATAT ATATATTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0154 a0001c0001t0024g0154	1	72	0.0139	47	c.176 others(66): Show c.1768+1452_1768+1453insATATATATATATATATATATATATAT ATATATATATATATTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21888826	A A	ATATACAC others(40): Show ATATACACACATATATGTGTGTATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	158	0.0063	47	c.61 others(58): Show c.6171_*6172insTATACACACATATATGTGTGTATATATATATATA TATATATATATAT	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3404		chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888827	T T	TACACACA others(40): Show TACACACACATATATGTGTGTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01256.hp1 others(1): Show HG00323.hp2 HG00741.hp1 HG01256.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0056 a0001c0002t0002g0075 others(1): Show a0001c0002t0002g0016 a0001c0002t0002g0056 a0001c0002t0002g0075 a0001c0002t0002g0081	4	289	0.0138	47	c.61 others(58): Show c.6172_*6173insACACACACATATATGTGTGTATATATATATATAT ATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3405		chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888827	T T	TATACACA others(40): Show TATACACACATATATGTGTGTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 NA18981.hp2 NA19000.hp1 HG02683.hp1 NA18981.hp2 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0016 a0001c0002t0002g0066 a0001c0002t0004g0005 a0001c0002t0002g0016 a0001c0002t0002g0066 a0001c0002t0004g0005	3	288	0.0104	47	c.61 others(58): Show c.6172_*6173insATACACACATATATGTGTGTATATATATATATAT ATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3405		chrX	TogoVar
MBTPS2_chrX_21834617_21890423	21888827	T T	TATACACA others(40): Show TATACACACATATATGTGTGTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	286	0.0035	47	c.61 others(58): Show c.6172_*6173insATACACACATATATGTGTGTGTATATATATATAT ATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding		3405		chrX	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	39	0.0256	47	c.-25 others(58): Show c.-2544_-2543insAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCCC2_chr5_71582340_71663706	71597524	C C	CATAGGGT others(40): Show CATAGGGTAGTAGTAGTGGTGGTGGCAGGAGTGCAGGGTTCTGGATGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0081 a0001c0011t0004g0081	1	348	0.0029	47	c.281 others(64): Show c.281+1163_281+1209dupAGGGTAGTAGTAGTGGTGGTGGCAGGAG TGCAGGGTTCTGGATGTAT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCF2L_chr13_112964214_113104742	113091642	G G	GGGGCTGA others(40): Show GGGGCTGACGAGGCCGAGCTCCCTGTCCGACCCGGACCCTCCTTTCCC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0111 a0001c0003t0002g0111	1	114	0.0088	47	c.295 others(66): Show c.2953+1918_2953+1919insTGACGAGGCCGAGCTCCCTGTCCGAC CCGGACCCTCCTTTCCCGGGC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MDGA1_chr6_37625679_37702883	37664904	C C	CACACACA others(40): Show CACACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0386 a0001c0001t0010g0386	1	400	0.0025	47	c.68- others(60): Show c.68-799_68-798insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698231	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0170 a0001c0001t0089g0170	1	372	0.0027	47	c.-14 others(58): Show c.-1421_-1420insGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAG	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		349		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698244	C C	CTCTCTCG others(40): Show CTCTCTCGCTCTCTCTCTCGCTCTCTCTCTCTCGCTCTCTCTCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0037 a0001c0001t0050g0037	1	350	0.0029	47	c.-14 others(58): Show c.-1434_-1433insCGAGAGAGAGAGAGCGAGAGAGAGAGAGCGAGAG AGAGAGCGAGAGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		362		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698244	C C	CTCTCTCG others(40): Show CTCTCTCGCTCTCTCTCTCTCGCTCTCTCTCTCTCGCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0072 a0001c0001t0065g0072	1	350	0.0029	47	c.-14 others(58): Show c.-1434_-1433insAGAGAGAGAGAGCGAGAGAGAGAGAGCGAGAGAG AGAGAGCGAGAGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		362		chr6	TogoVar
ME1_chr6_83205402_83436051	83237274	A A	AGAAAGAA others(40): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18967.hp2 HG02132.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0203 a0001c0001t0003g0253 a0001c0001t0002g0203 a0001c0001t0003g0253	2	131	0.0153	47	c.102 others(64): Show c.1026+442_1026+443insCTTCCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTTC	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13			chr6	TogoVar
MEAF6_chr1_37484993_37519766	37517967	G G	GAGTGTTT others(40): Show GAGTGTTTCAAACCTACTCTGTGAAAGGGAATATTCAACTCTGTGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0037 a0001c0001t0014g0037	1	426	0.0023	47	c.-32 others(58): Show c.-3222_-3221insAGTCACAGAGTTGAATATTCCCTTTCACAGAGTA GGTTTGAAACACT	MEAF6	ENSG00000163875.16	transcript	ENST00000296214.10	protein_coding		3202		chr1	TogoVar
MED12L_chr3_151080664_151441653	151141177	T T	TTTTTGTT others(40): Show TTTTTGTTTTGTTTTTTTTTTTTTTGTTTTTTGTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0009 a0001c0013t0009	a0001c0013t0009g0104 a0001c0013t0009g0104	1	278	0.0036	47	c.556 others(66): Show c.556+13193_556+13194insTTTTGTTTTGTTTTTTTTTTTTTTGT TTTTTGTTTTTTTTTTTTTTG	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44			chr3	TogoVar
MED16_chr19_862963_898187	871777	G G	GAGAGGGG others(40): Show GAGAGGGGGGAGCGGGGAGAGGGGAGAGGGGAGAGCGGGGAGAGGGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0012 a0002c0003t0001g0012	1	53	0.0189	47	c.209 others(64): Show c.2098+148_2098+149insTCCCCTCTCCCCGCTCTCCCCTCTCCCC TCTCCCCGCTCCCCCCTCT	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MELTF_chr3_196996740_197034817	197000591	A A	ACCGTGTG others(40): Show ACCGTGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01175.hp2 HG01358.hp1 others(8): Show HG01070.hp1 HG01175.hp2 HG01358.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02293.hp1 HG02809.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0018 others(2): Show a0001c0001 a0001c0002 a0001c0018 a0001c0020 a0010c0031	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0018t0001 a0001c0020t0001 a0010c0031t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0135 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0135 a0001c0001t0002g0231 a0001c0002t0004g0149 a0001c0018t0001g0219 a0001c0020t0001g0220 a0010c0031t0001g0232	11	399	0.0276	47	c.27 others(58): Show c.2734_*2780dupCATAGAGTCTAAGACACAAAACACTCAGCACAGT GCTTGGCACACGG	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		1148		chr3	TogoVar
MELTF_chr3_196996740_197034817	197000594	G G	GTGTGCCA others(40): Show GTGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0053 a0001c0002t0006g0053	2	417	0.0048	47	c.27 others(58): Show c.2731_*2777dupTGGCATAGAGTCTAAGACACAAAACACTCAGCAC AGTGCTTGGCACA	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		1145		chr3	TogoVar
MELTF_chr3_196996740_197034817	197000735	G G	GTGTGCCA others(40): Show GTGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0164 a0002c0004t0007g0164	1	418	0.0024	47	c.26 others(58): Show c.2636_*2637insTGGCATAGAGTCTAAGACACAAAACACTCAGCAC AGTGCTTGGCACA	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		1004		chr3	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAAAA others(40): Show AACAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0100 a0001c0001t0058g0100	1	177	0.0056	47	c.67 others(56): Show c.671_*672insATATATATATATATATATATATATATATATATATTT TTTTTTTTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL9_chr16_21594577_21662471	21622141	C C	CTTTTTTT others(40): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA21309.hp2 NA18939.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0160 a0001c0001t0001g0076 a0001c0001t0001g0160	2	49	0.0408	47	c.567 others(64): Show c.567-2769_567-2768insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
MFSD6_chr2_190403355_190507314	190430864	C C	CGGGCGGG others(40): Show CGGGCGGGGCGGCCGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03225.hp1 HG03471.hp1 HG02280.hp1 HG03225.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0008 a0002c0002t0005 a0002c0002t0008	a0002c0002t0005g0149 a0002c0002t0005g0218 a0002c0002t0008g0211 a0002c0002t0005g0149 a0002c0002t0005g0218 a0002c0002t0008g0211	3	186	0.0161	47	c.-53 others(64): Show c.-53-5111_-53-5110insGCGGGGCGGCCGGCCGGGCGGGGGCTGA CCCCCCACCTCCCTCCTGG	MFSD6	ENSG00000151690.15	transcript	ENST00000392328.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAM2_chr7_142106718_142227324	142114223	A A	AAGGAAGG others(40): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0312 a0002c0003t0001g0312	1	272	0.0037	47	c.-1+ others(62): Show c.-1+2417_-1+2418insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAGGGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT5B_chr17_76863404_76955393	76925868	G G	GGGAGGGC others(40): Show GGGAGGGCAGAGGGGGTGGCTCTGGGGCTGTGGCCCATTGAGAATGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0241 a0002c0006t0004g0241	1	276	0.0036	47	c.115 others(64): Show c.1158-728_1158-682dupGGAGGGCAGAGGGGGTGGCTCTGGGGCT GTGGCCCATTGAGAATGGC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MIA2_chr14_39228915_39355694	39285429	C C	CCCCCCCA others(40): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19054.hp2 NA18960.hp2 NA19054.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0347 a0007c0018t0001g0348 a0007c0018t0001g0347 a0007c0018t0001g0348	2	366	0.0055	47	c.213 others(66): Show c.2131-5580_2131-5579insCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGCTGACCCCCCACCT	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MICU1_chr10_72362340_72631079	72535012	T T	TTTTTATA others(40): Show TTTTTATATTTTATTATTTTATTTTATCTCATCTTATCTTATCTTATC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	195	0.0051	47	c.494 others(64): Show c.494-1224_494-1223insGATAAGATAAGATAAGATGAGATAAAAT AAAATAATAAAATATAAAA	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	4/11			chr10	TogoVar
MID1_chrX_10440556_10625585	10533352	G G	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	163	0.0061	47	c.661 others(66): Show c.661-10166_661-10165insTCTTTCTTTCTTTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	2/9			chrX	TogoVar
MINAR1_chr15_79427336_79477304	79437806	T T	TGTGTGGA others(40): Show TGTGTGGAGTGTGGGGTTGGTAGTGTGTGGGGCGTGGGTGTGTGTAGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0005 a0003c0029t0005	a0003c0029t0005g0173 a0003c0029t0005g0173	1	307	0.0033	47	c.-51 others(64): Show c.-51+5267_-51+5268insTGTGGAGTGTGGGGTTGGTAGTGTGTGG GGCGTGGGTGTGTGTAGGG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINAR1_chr15_79427336_79477304	79439016	T T	TGGGGTGG others(40): Show TGGGGTGGATAGTGGGTGGGTGTGGGTGGGGTGGGCAGTGAGTGTGCG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0252 a0001c0002t0002g0252	1	388	0.0026	47	c.-51 others(64): Show c.-51+6479_-51+6480insGTGGATAGTGGGTGGGTGTGGGTGGGGT GGGCAGTGAGTGTGCGGGG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINAR1_chr15_79427336_79477304	79439047	A A	ATGGGGTA others(40): Show ATGGGGTAGGTAGTGTGTGGGGTGTGGGTGGGATGGGTAGTAAGGGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01943.hp1 others(9): Show HG00438.hp2 HG00597.hp2 HG01943.hp1 HG02717.hp2 HG04115.hp2 HG04204.hp1 NA18948.hp2 NA19000.hp1 NA19068.hp1 NA19083.hp1 NA19087.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0003c0029	a0001c0001t0001 a0001c0002t0002 a0001c0004t0004 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0004 a0003c0005t0003 a0003c0029t0005	a0001c0001t0001g0113 a0001c0001t0001g0194 a0001c0001t0001g0217 others(9): Show a0001c0001t0001g0113 a0001c0001t0001g0194 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0241 a0001c0002t0002g0200 a0001c0004t0004g0165 a0001c0004t0004g0222 a0003c0005t0003g0224 a0003c0029t0005g0173	12	206	0.0583	47	c.-51 others(64): Show c.-51+6513_-51+6514insAGGTAGTGTGTGGGGTGTGGGTGGGATG GGTAGTAAGGGTGTGGGGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MLPH_chr2_237482251_237560322	237543820	G G	GACAGTAG others(40): Show GACAGTAGTGAGTAGGGGACAGTGGTGAGTTGGGGCACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0133 a0004c0005t0001g0133	1	269	0.0037	47	c.153 others(66): Show c.1539+1161_1539+1162insACAGTAGTGAGTAGGGGACAGTGGTG AGTTGGGGCACAGTGGTGAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLXIP_chr12_122073756_122152344	122121010	G G	GTTTTTTT others(40): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0244 a0002c0002t0002g0244	1	60	0.0167	47	c.414 others(64): Show c.414-6228_414-6227insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MMD2_chr7_4900998_4964187	4958915	C C	CCCGCCGC others(40): Show CCCGCCGCCGCGCGCCCCTCCCTCCCTCCCCGCGGACCTCCGCGGCCG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0359 a0001c0002t0007g0359	1	380	0.0026	47	c.47+ others(57): Show c.47+9_47+55dupCGGCCGCGGAGGTCCGCGGGGAGGGAGGGAGGGGC GCGCGGCGGCGG	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMP17_chr12_131823393_131856771	131827365	G G	GGGGGGGG others(40): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0003 a0008c0025t0003	a0008c0025t0003g0003 a0008c0025t0003g0003	1	370	0.0027	47	c.-11 others(58): Show c.-1130_-1129insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAG GGGGGGGTGGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1027		chr12	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	168	0.0060	47	c.226 others(64): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MOG_chr6_29652092_29677365	29665737	G G	GTAAAGGT others(40): Show GTAAAGGTATAGGAAGTCAGGGGATTCAAAGCTTAAATAGGGAATAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG02055.hp1 others(11): Show HG00642.hp2 HG01081.hp2 HG02055.hp1 HG02145.hp2 HG02451.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp2 HG02897.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0001c0001t0030 a0003c0003t0009 others(2): Show a0001c0001t0005 a0001c0001t0030 a0003c0003t0009 a0003c0003t0015 a0003c0003t0016	a0001c0001t0005g0043 a0001c0001t0005g0139 a0001c0001t0030g0138 others(8): Show a0001c0001t0005g0043 a0001c0001t0005g0139 a0001c0001t0030g0138 a0003c0003t0009g0034 a0003c0003t0009g0050 a0003c0003t0009g0181 a0003c0003t0015g0034 a0003c0003t0015g0179 a0003c0003t0016g0177 a0003c0003t0016g0178 a0003c0003t0016g0180	14	433	0.0323	47	c.437 others(62): Show c.437-415_437-414insTAAAGGTATAGGAAGTCAGGGGATTCAAAG CTTAAATAGGGAATAAA	MOG	ENSG00000204655.12	transcript	ENST00000376917.8	protein_coding	2/7			chr6	TogoVar
MOG_chr6_29652092_29677365	29665737	G G	GTAATGGT others(40): Show GTAATGGTATAGGAAGTCAGGGGATTCAAAGCTTAAATAGGGAATAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp1 HG02723.hp2 others(2): Show HG00735.hp2 HG02145.hp1 HG02723.hp2 HG03540.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0023 a0003c0003t0018 a0003c0003t0023	a0003c0003t0018g0048 a0003c0003t0018g0174 a0003c0003t0018g0175 others(1): Show a0003c0003t0018g0048 a0003c0003t0018g0174 a0003c0003t0018g0175 a0003c0003t0023g0173	5	424	0.0118	47	c.437 others(62): Show c.437-415_437-414insTAATGGTATAGGAAGTCAGGGGATTCAAAG CTTAAATAGGGAATAAA	MOG	ENSG00000204655.12	transcript	ENST00000376917.8	protein_coding	2/7			chr6	TogoVar
MON1A_chr3_49903873_49934811	49911201	G G	GATAGATA others(40): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02257.hp2 HG02451.hp1 others(1): Show HG01934.hp2 HG02257.hp2 HG02451.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0153 a0001c0002t0001g0164 a0002c0005t0001g0018 a0001c0002t0001g0153 a0001c0002t0001g0164 a0002c0005t0001g0018	4	258	0.0155	47	c.614 others(62): Show c.614-318_614-317insGTATCTATCATCTATCTATCTATCTATCTA TCTATCTATCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MON1A_chr3_49903873_49934811	49911205	G G	GATAGATA others(40): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18982.hp1 NA19005.hp1 others(1): Show NA18978.hp2 NA18982.hp1 NA19005.hp1 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0133 a0001c0002t0001g0140 a0001c0002t0001g0033 a0001c0002t0001g0133 a0001c0002t0001g0140	4	249	0.0161	47	c.613 others(62): Show c.613+320_613+321insGTATCTATCATCTATCTATCTATCTATCTA TCTATCTATCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MON1A_chr3_49903873_49934811	49911209	G G	GATAGATA others(40): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02155.hp2 HG02647.hp2 HG00741.hp2 HG02155.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0142 a0001c0002t0001g0152 a0001c0003t0001g0063 a0001c0002t0001g0142 a0001c0002t0001g0152 a0001c0003t0001g0063	3	231	0.0130	47	c.613 others(62): Show c.613+316_613+317insGTATCTATCATCTATCTATCTATCTATCTA TCTATCTATCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MON1A_chr3_49903873_49934811	49911217	G G	GATAGATA others(40): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0061 a0001c0003t0001g0061	1	218	0.0046	47	c.613 others(62): Show c.613+308_613+309insGTATCTATCATCTATCTATCTATCTATCTA TCTATCTATCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TGGTGTGT others(40): Show TGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCCAG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0008 a0001c0002t0006g0008	1	206	0.0049	47	c.670 others(62): Show c.670+790_670+791insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTTTTCTGAGCCAGGGT	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MPPED1_chr22_43407014_43512848	43432876	A A	AGAAAGGG others(40): Show AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03654.hp2 HG04228.hp2 others(3): Show HG02451.hp1 HG03654.hp2 HG04228.hp2 NA19077.hp1 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0002t0002 a0001c0002t0016 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0016 a0001c0003t0008 a0001c0012t0026	a0001c0001t0001g0045 a0001c0002t0002g0097 a0001c0002t0002g0212 others(3): Show a0001c0001t0001g0045 a0001c0002t0002g0097 a0001c0002t0002g0212 a0001c0002t0016g0098 a0001c0003t0008g0036 a0001c0012t0026g0178	6	136	0.0441	47	c.225 others(64): Show c.225-2157_225-2156insAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH2A_chr2_233773330_233838418	233787914	A A	ATATATAC others(40): Show ATATATACATATATATTATATATACATATATTATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0119 a0013c0019t0001g0119	1	339	0.0029	47	c.277 others(64): Show c.277-1577_277-1576insCATATATATTATATATACATATATTATA TATACATATATATTATATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRO_chr18_50790130_50825016	50804097	T T	TGTGCTTT others(40): Show TGTGCTTTGGTTTCCTTGTCTACAAAGTGAAGATAATTACAGTGCCCA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0237 a0001c0004t0002g0237	1	428	0.0023	47	c.429 others(64): Show c.429+1010_429+1056dupTGGGCACTGTAATTATCTTCACTTTGTA GACAAGGAAACCAAAGCAC	MRO	ENSG00000134042.14	transcript	ENST00000398439.8	protein_coding	5/7			chr18	TogoVar
MRPL41_chr9_137546879_137557555	137551734	A A	AGCCCCGC others(40): Show AGCCCCGCCCCGCCCCGCGAGCCCCGCACCGCCGACCCCGCACCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	242	0.0041	47	c.-25 others(56): Show c.-253_-252insGCCCCGCCCCGCCCCGCGAGCCCCGCACCGCCGACC CCGCACCGCCG	MRPL41	ENSG00000182154.8	transcript	ENST00000371443.6	protein_coding		144		chr9	TogoVar
MRPL45_chr17_38292168_38328211	38313307	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATGTATATATATATACGTATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0159 a0001c0004t0001g0159	1	285	0.0035	47	c.462 others(64): Show c.462-5380_462-5379insTATATATATATATATATATATATATGTA TATATATATACGTATATAT	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7			chr17	TogoVar

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