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
MAP3K2_chr2_127293668_127392975	127387398	G G	GCGCGCGC others(23): Show GCGCGCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0191 a0001c0002t0013g0191	1	320	0.0031	30	c.-66 others(43): Show c.-66+53_-66+54insTGTGTGTGTGTGTGTGTGTGTGTGCGCGCG	MAP3K2	ENSG00000169967.17	transcript	ENST00000682094.1	protein_coding	1/16			chr2	TogoVar
MAP3K2_chr2_127293668_127392975	127387398	G G	GCGCGCGC others(23): Show GCGCGCGCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02080.hp1 HG06807.hp1 others(1): Show HG01243.hp2 HG02080.hp1 HG06807.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0057 a0001c0002t0013 a0001c0001t0001 a0001c0001t0057 a0001c0002t0013	a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0057g0189 others(1): Show a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0057g0189 a0001c0002t0013g0068	4	320	0.0125	30	c.-66 others(43): Show c.-66+53_-66+54insTGTGTGTGTGTGTGTGTGTGTGCGCGCGCG	MAP3K2	ENSG00000169967.17	transcript	ENST00000682094.1	protein_coding	1/16			chr2	TogoVar
MAP3K5_chr6_136552046_136797477	136560950	T T	TATAAAAT others(23): Show TATAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03041.hp1 HG02572.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0003 a0001c0001t0003 a0001c0004t0003	a0001c0001t0003g0150 a0001c0004t0003g0009 a0001c0001t0003g0150 a0001c0004t0003g0009	2	162	0.0124	30	c.398 others(47): Show c.3987+553_3987+582dupTTTATTTTATTTTATTTTATTTTATTTT AT	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	28/29			chr6	TogoVar
MAP3K5_chr6_136552046_136797477	136737037	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0140 a0001c0006t0003g0140	1	162	0.0062	30	c.449 others(49): Show c.449-16449_449-16448insTATATATATATATATATATATATATA TATA	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	1/29			chr6	TogoVar
MAP3K5_chr6_136552046_136797477	136737037	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02717.hp2 HG02895.hp2 HG00639.hp2 HG02717.hp2 HG02895.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0001c0004 a0006c0022 a0001c0003 a0001c0004 a0006c0022	a0001c0003t0001 a0001c0004t0001 a0006c0022t0001 a0001c0003t0001 a0001c0004t0001 a0006c0022t0001	a0001c0003t0001g0087 a0001c0004t0001g0058 a0006c0022t0001g0064 a0001c0003t0001g0087 a0001c0004t0001g0058 a0006c0022t0001g0064	3	162	0.0185	30	c.449 others(49): Show c.449-16449_449-16448insTATATATATATATATATATATATATA TACA	MAP3K5	ENSG00000197442.11	transcript	ENST00000359015.5	protein_coding	1/29			chr6	TogoVar
MAP4K3_chr2_39244266_39442285	39415980	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	232	0.0043	30	c.96+ others(47): Show c.96+20911_96+20912insATATATATATATATATATATTTTTTTTT TT	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	1/33			chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101785737	T T	TCTCCCCC others(23): Show TCTCCCCCTCTCTCTCTCCCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	310	0.0032	30	c.124 others(47): Show c.124-4980_124-4979insCCCCTCTCTCTCTCCCTCTCTCTCTCCC TC	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101797889	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA21309.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0108 a0001c0001t0003g0109	2	310	0.0065	30	c.180 others(47): Show c.180+7134_180+7135insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4_chr3_47845695_48021416	47997326	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02698.hp2 HG04228.hp2 HG02300.hp1 HG02698.hp2 HG04228.hp2	a0002 a0006 a0012 a0002 a0006 a0012	a0002c0002 a0006c0006 a0012c0012 a0002c0002 a0006c0006 a0012c0012	a0002c0002t0002 a0006c0006t0002 a0012c0012t0002 a0002c0002t0002 a0006c0006t0002 a0012c0012t0002	a0002c0002t0002g0051 a0006c0006t0002g0062 a0012c0012t0002g0071 a0002c0002t0002g0051 a0006c0006t0002g0062 a0012c0012t0002g0071	3	232	0.0129	30	c.223 others(47): Show c.223+1311_223+1312insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MAP4	ENSG00000047849.22	transcript	ENST00000683076.1	protein_coding	2/20			chr3	TogoVar
MAP7D3_chrX_136211814_136256400	136251449	T T	TGGGCGGG others(23): Show TGGGCGGGGCGGGGCGGGGCGGGGCGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	276	0.0036	30	c.-12 others(38): Show c.-121_-92dupCGCCCCGCCCCGCCCCGCCCCGCCCCGCCC	MAP7D3	ENSG00000129680.16	transcript	ENST00000316077.14	protein_coding		50		chrX	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(23): Show GAAGAAGAAGAAGAAGAAGGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0042 a0002c0002t0010g0042	1	248	0.0040	30	c.68- others(47): Show c.68-35024_68-35023insTTCTTCTTCTTCCTTCTTCTTCTTCTTC TT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(23): Show GAAGAAGAAGAAGGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03209.hp1 HG03486.hp1 others(1): Show HG01346.hp2 HG03209.hp1 HG03486.hp1 NA19006.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0008 a0003c0003t0003 a0001c0001t0001 a0001c0001t0008 a0003c0003t0003	a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0008g0094 others(1): Show a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0008g0094 a0003c0003t0003g0015	4	248	0.0161	30	c.68- others(47): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCCTTCTTCTTC TT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(23): Show GAAGAAGAAGGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01993.hp2 HG01106.hp1 HG01993.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0010 a0003c0003t0003g0013 a0003c0003t0003g0010 a0003c0003t0003g0013	2	248	0.0081	30	c.68- others(47): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCCTTCTTC TT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGGAAG others(23): Show GAAGGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02015.hp2 HG02165.hp1 others(1): Show HG00423.hp1 HG02015.hp2 HG02165.hp1 NA19062.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0115 a0001c0001t0001g0143 a0005c0005t0001g0104 others(1): Show a0001c0001t0001g0115 a0001c0001t0001g0143 a0005c0005t0001g0104 a0005c0005t0001g0169	4	248	0.0161	30	c.68- others(47): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCTTCTTCC TT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP9_chr4_155337658_155381965	155378002	T T	TTATATTA others(23): Show TTATATTATATATATTATATAATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0001 a0003c0004t0002g0001	1	416	0.0024	30	c.-12 others(41): Show c.-1297_-1296insTATAATATATTATATAATATATATAATATA	MAP9	ENSG00000164114.19	transcript	ENST00000311277.9	protein_coding		1038		chr4	TogoVar
MAP9_chr4_155337658_155381965	155378008	T T	TATATATA others(23): Show TATATATATTATATAATATATTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02280.hp2 HG02486.hp2 others(1): Show HG01123.hp2 HG02280.hp2 HG02486.hp2 HG03139.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0008 a0005c0006t0006g0054 a0005c0006t0006g0008 a0005c0006t0006g0054	4	416	0.0096	30	c.-13 others(41): Show c.-1303_-1302insTATATATATAATATATTATATAATATATAT	MAP9	ENSG00000164114.19	transcript	ENST00000311277.9	protein_coding		1044		chr4	TogoVar
MAPK11_chr22_50258713_50275380	50274658	C C	CCACCTCC others(23): Show CCACCTCCCCCAGCACCCCTCCCAACCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	428	0.0023	30	c.-43 others(41): Show c.-4367_-4366insTGGGGGTTGGGAGGGGTGCTGGGGGAGGTG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4279		chr22	TogoVar
MAPK11_chr22_50258713_50275380	50274695	T T	TCCCCCAG others(23): Show TCCCCCAGCACCCCTCCCAACCCCCCACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0071 a0001c0001t0005g0071	1	428	0.0023	30	c.-44 others(41): Show c.-4404_-4403insGAGGTGGGGGGTTGGGAGGGGTGCTGGGGG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4316		chr22	TogoVar
MAPK14_chr6_36022808_36116236	36065507	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	342	0.0029	30	c.305 others(47): Show c.305+6171_305+6200dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	MAPK14	ENSG00000112062.12	transcript	ENST00000229794.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
MAPK15_chr8_143711349_143727458	143711693	C C	CGGGCCAG others(23): Show CGGGCCAGCCTCCCTCCTCCCCACCACAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG02109.hp1 HG02109.hp2 others(5): Show HG01175.hp2 HG02109.hp1 HG02109.hp2 HG02486.hp1 HG02559.hp1 HG03139.hp2 HG03486.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0006 a0002c0003t0001 a0001c0002t0001 a0001c0002t0006 a0002c0003t0001	a0001c0002t0001g0013 a0001c0002t0001g0028 a0001c0002t0001g0050 others(2): Show a0001c0002t0001g0013 a0001c0002t0001g0028 a0001c0002t0001g0050 a0001c0002t0006g0013 a0002c0003t0001g0003	8	397	0.0202	30	c.-46 others(41): Show c.-4685_-4684insGGGCCAGCCTCCCTCCTCCCCACCACAGCT	MAPK15	ENSG00000181085.15	transcript	ENST00000338033.9	protein_coding		4655		chr8	TogoVar
MAPK1_chr22_21754657_21872645	21814854	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	348	0.0029	30	c.120 others(47): Show c.120-7038_120-7009dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8			chr22	TogoVar
MAPK8IP3_chr16_1701195_1775351	1736505	T T	TGTGACCG others(23): Show TGTGACCGTCCGTGTGAGCATCCGTGTGAGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0316	1	330	0.0030	30	c.603 others(47): Show c.603-6812_603-6811insAGCATCCGTGTGAGCGTGACCGTCCGTG TG	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691482	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02280.hp1 HG01993.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0319 a0001c0001t0003g0118 a0001c0001t0002g0319 a0001c0001t0003g0118	2	382	0.0052	30	c.279 others(47): Show c.279+5997_279+5998insTATATATATATATATATATATATATATA TA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691502	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0160 a0002c0003t0004g0160	1	382	0.0026	30	c.279 others(47): Show c.279+5997_279+5998insTATATATATATATATATATATATATACA TA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691504	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	382	0.0026	30	c.279 others(47): Show c.279+5997_279+5998insTATATATATATATATATATATATATACA CA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691504	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	382	0.0026	30	c.279 others(47): Show c.279+5997_279+5998insTATATATATATATATATATATATATATA CA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0021 a0021	a0021c0014 a0021c0014	a0021c0014t0006 a0021c0014t0006	a0021c0014t0006g0291 a0021c0014t0006g0291	1	328	0.0031	30	c.114 others(49): Show c.114+11389_114+11390insAAAAAATATATATATATATATATATA TATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPRE1_chr20_32814954_32855405	32854691	T T	TATATATA others(23): Show TATATATATGATCATATATAATATATATAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	386	0.0026	30	c.59 others(41): Show c.5963_*5964insATATATATGATCATATATAATATATATAAG	MAPRE1	ENSG00000101367.9	transcript	ENST00000375571.6	protein_coding		4287		chr20	TogoVar
MAPT_chr17_45889554_46033334	46017440	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0008 a0009c0011t0008	a0009c0011t0008g0097 a0009c0011t0008g0097	1	253	0.0040	30	c.217 others(49): Show c.2174-1177_2174-1148dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	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(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02717.hp2 HG03492.hp2 others(2): Show HG02132.hp1 HG02717.hp2 HG03492.hp2 HG03831.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0053 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0189 a0001c0001t0002g0098	5	280	0.0179	30	c.210 others(47): Show c.2105-963_2105-962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10			chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62812459	G G	GCCAGTGT others(23): Show GCCAGTGTGGTGTTGCCTTCATCCATGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	280	0.0036	30	c.-44 others(41): Show c.-4401_-4400insTGTGCATGGATGAAGGCAACACCACACTGG	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding		4146		chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163643327	C C	CAAAAATA others(23): Show CAAAAATAAAAATAAAAATAAAAATAAAAAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	102	0.0098	30	c.163 others(49): Show c.163-29964_163-29935dupATTTTTATTTTTATTTTTATTTTTAT TTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	5/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163733193	A A	ATATATAT others(23): Show ATATATATATATATATATATATATACACGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 HG02451.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0036 a0001c0001t0022g0040 a0001c0001t0001g0036 a0001c0001t0022g0040	2	102	0.0196	30	c.112 others(49): Show c.112-32331_112-32330insCACGTGTATATATATATATATATATA TATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163733209	A A	ACACATGT others(23): Show ACACATGTATATATATATATATACACATGTG	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18952.hp1 HG02735.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0010g0063 a0001c0002t0002g0094 a0001c0001t0010g0063 a0001c0002t0002g0094	2	102	0.0196	30	c.112 others(49): Show c.112-32347_112-32346insCACATGTGTATATATATATATATACA TGTG	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163866466	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0075 a0002c0003t0008g0075	1	102	0.0098	30	c.-38 others(49): Show c.-38-12298_-38-12297insTATATATATATATATATATATATATA TATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164220667	C C	CTATATAT others(23): Show CTATATATGCATATATGTAATATATATGCTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0039 a0001c0001t0017g0039	1	102	0.0098	30	c.-32 others(53): Show c.-322-109006_-322-109005insTAGCATATATATTACATATATG CATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164325333	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0051 a0001c0001t0007g0051	1	102	0.0098	30	c.-32 others(51): Show c.-323+58536_-323+58537insTATATATATATATATATATATATA TATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0005	1	102	0.0098	30	c.-32 others(51): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA TATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01123.hp1 HG01361.hp1 others(14): Show HG00280.hp1 HG01123.hp1 HG01361.hp1 HG01433.hp1 HG01993.hp2 HG02258.hp2 HG02300.hp2 HG02602.hp1 HG02683.hp1 HG03139.hp2 HG03471.hp1 HG03654.hp2 NA18906.hp1 NA18954.hp1 NA18995.hp1 NA19011.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0021 a0001c0001t0030 a0001c0001t0049 a0001c0001t0050 a0001c0001t0081 a0001c0001t0098	a0001c0001t0001g0163 a0001c0001t0002g0071 a0001c0001t0002g0166 others(14): Show a0001c0001t0001g0163 a0001c0001t0002g0071 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0179 a0001c0001t0002g0214 a0001c0001t0003g0034 a0001c0001t0007g0039 a0001c0001t0007g0100 a0001c0001t0009g0033 a0001c0001t0012g0044 a0001c0001t0021g0138 a0001c0001t0030g0070 a0001c0001t0049g0237 a0001c0001t0050g0236 a0001c0001t0081g0075 a0001c0001t0098g0283	17	296	0.0574	30	c.37 others(41): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARK3_chr14_103380415_103508831	103452471	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	348	0.0029	30	c.412 others(45): Show c.412+506_412+507insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18939.hp1 NA20752.hp2 HG00733.hp2 NA18939.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0051 a0001c0001t0003g0041 a0001c0001t0003g0071 a0001c0001t0001g0051 a0001c0001t0003g0041 a0001c0001t0003g0071	3	348	0.0086	30	c.111 others(47): Show c.1111-336_1111-335insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103481757	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	348	0.0029	30	c.158 others(49): Show c.1586+1294_1586+1295insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MAST2_chr1_45798612_46041122	45888663	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	288	0.0035	30	c.500 others(47): Show c.500+6275_500+6304dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST4_chr5_66591393_67174593	66837023	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0029 a0001c0001t0030g0029	1	108	0.0093	30	c.642 others(49): Show c.642+48229_642+48230insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28			chr5	TogoVar
MAST4_chr5_66591393_67174593	67057610	G G	GAAAGAAA others(23): Show GAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0001 a0001c0008t0007g0001	1	108	0.0093	30	c.763 others(47): Show c.763+3139_763+3140insAAGAAAAGAAAAGAAAAGAAAAGAAAAG AA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67069287	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0081 a0001c0002t0016g0081	1	108	0.0093	30	c.763 others(49): Show c.763+14820_763+14821insTATATATATATATATATATATATATA TATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MATN2_chr8_97864064_98041724	97889459	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18964.hp2 NA18970.hp2 others(1): Show HG04115.hp1 NA18964.hp2 NA18970.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0024	a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0024t0002	a0001c0001t0002g0304 a0001c0002t0001g0087 a0001c0004t0001g0234 others(1): Show a0001c0001t0002g0304 a0001c0002t0001g0087 a0001c0004t0001g0234 a0001c0024t0002g0090	4	318	0.0126	30	c.142 others(47): Show c.142+1218_142+1247dupTATATATATATATATATATATATATATA TA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97889472	T T	TAATATAT others(23): Show TAATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0068 a0005c0013t0002g0068	1	318	0.0031	30	c.142 others(47): Show c.142+1231_142+1232insATATATATATATATATATATATATATAT AA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0012 a0012	a0012c0061 a0012c0061	a0012c0061t0002 a0012c0061t0002	a0012c0061t0002g0018 a0012c0061t0002g0018	1	318	0.0031	30	c.108 others(49): Show c.1082-6308_1082-6307insAAAAAAAAAAAAAATATATATATATA TATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0076 a0002c0076	a0002c0076t0002 a0002c0076t0002	a0002c0076t0002g0118 a0002c0076t0002g0118	1	318	0.0031	30	c.108 others(49): Show c.1082-6308_1082-6307insAAAAAAAAAAAATATATATATATATA TATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar

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