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
METTL9_chr16_21594577_21662471	21622141	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19000.hp2 HG02155.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0319 a0001c0001t0001g0086 a0001c0001t0001g0319	2	49	0.0408	34	c.567 others(51): Show c.567-2769_567-2768insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
MFGE8_chr15_88893683_88918379	88913993	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02155.hp1 NA18984.hp1 others(1): Show HG01255.hp2 HG02155.hp1 NA18984.hp1 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0001g0146 a0001c0002t0002g0007 a0001c0002t0002g0008 others(1): Show a0001c0002t0001g0146 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0003t0001g0021	4	161	0.0248	34	c.-67 others(43): Show c.-675_-674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding		615		chr15	TogoVar
MFSD14A_chr1_100033095_100088377	100059144	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	121	0.0083	34	c.243 others(49): Show c.243+443_243+444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MFSD14A	ENSG00000156875.14	transcript	ENST00000370152.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MFSD14B_chr9_94369569_94466042	94373681	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 NA18968.hp1 HG03209.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0249 a0001c0001t0003g0237 a0001c0001t0002g0249 a0001c0001t0003g0237	2	7	0.2857	34	c.-11 others(45): Show c.-1139_-1138insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding		887		chr9	TogoVar
MGAM_chr7_141990879_142111747	142067986	A A	ATAAATAT others(27): Show ATAAATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0073 a0003c0005t0001g0073	1	154	0.0065	34	c.500 others(51): Show c.5004+562_5004+563insAAATATATATATATATATATATATATAT TTTTTT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT4C_chr12_85950667_86261391	86203975	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0031 a0002c0003t0031	a0002c0003t0031g0006 a0002c0003t0031g0006	1	169	0.0059	34	c.-57 others(53): Show c.-57+52263_-57+52264insATATATATATATATATATATATATAT ATATATAT	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MGAT5_chr2_134249072_134459621	134369727	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	11	0.0909	34	c.138 others(53): Show c.1380+7349_1380+7350insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134381369	A A	AGATAGAT others(27): Show AGATAGATAGATAGATAGATAAGATAAGATAAGAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01192.hp1 HG00280.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0009 a0001c0001t0013 a0001c0002t0009	a0001c0001t0013g0085 a0001c0002t0009g0186 a0001c0001t0013g0085 a0001c0002t0009g0186	2	193	0.0104	34	c.138 others(55): Show c.1380+18961_1380+18962insGATAGATAGATAGATAGATAAGAT AAGATAAGAT	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15			chr2	TogoVar
MGMT_chr10_129462241_129775983	129646719	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp1 HG03195.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0173 a0002c0002t0003g0175 a0001c0001t0001g0173 a0002c0002t0003g0175	2	66	0.0303	34	c.126 others(53): Show c.126-61173_126-61140dupATATATATATATATATATATATATAT ATATATAT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGMT_chr10_129462241_129775983	129646754	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0077 a0001c0001t0020g0077	1	141	0.0071	34	c.126 others(53): Show c.126-61140_126-61139insATATATATATATATATATATTTTTTT TTTTTTTT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MIA2_chr14_39228915_39355694	39298413	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0002 a0001c0044t0002	a0001c0044t0002g0123 a0001c0044t0002g0123	1	200	0.0050	34	c.249 others(53): Show c.2497-1450_2497-1449insTTATATATATATATATATATATATAT ATATATAT	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39298442	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02647.hp1 HG03471.hp2 others(4): Show HG00735.hp2 HG02647.hp1 HG03471.hp2 HG03927.hp2 NA18612.hp2 NA18980.hp1 NA20129.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0013	a0001c0002 a0003c0012 a0006c0005 others(1): Show a0001c0002 a0003c0012 a0006c0005 a0013c0014	a0001c0002t0001 a0003c0012t0001 a0003c0012t0002 others(3): Show a0001c0002t0001 a0003c0012t0001 a0003c0012t0002 a0006c0005t0001 a0006c0005t0002 a0013c0014t0001	a0001c0002t0001g0204 a0003c0012t0001g0153 a0003c0012t0002g0170 others(4): Show a0001c0002t0001g0204 a0003c0012t0001g0153 a0003c0012t0002g0170 a0006c0005t0001g0233 a0006c0005t0002g0255 a0006c0005t0002g0367 a0013c0014t0001g0113	7	47	0.1489	34	c.249 others(53): Show c.2497-1421_2497-1420insTATATATATATATATATATATATATA TATATAAA	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIA2_chr14_39228915_39355694	39298442	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATGTAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG04184.hp1 others(6): Show HG00408.hp1 HG00639.hp1 HG04184.hp1 NA18945.hp2 NA18947.hp1 NA18988.hp1 NA18990.hp1 NA19000.hp1 NA19080.hp1	a0001 a0008 a0020 a0001 a0008 a0020	a0001c0003 a0008c0008 a0008c0031 others(1): Show a0001c0003 a0008c0008 a0008c0031 a0020c0030	a0001c0003t0001 a0008c0008t0001 a0008c0031t0001 others(1): Show a0001c0003t0001 a0008c0008t0001 a0008c0031t0001 a0020c0030t0001	a0001c0003t0001g0270 a0001c0003t0001g0275 a0001c0003t0001g0317 others(6): Show a0001c0003t0001g0270 a0001c0003t0001g0275 a0001c0003t0001g0317 a0001c0003t0001g0320 a0001c0003t0001g0324 a0001c0003t0001g0361 a0008c0008t0001g0299 a0008c0031t0001g0278 a0020c0030t0001g0283	9	49	0.1837	34	c.249 others(53): Show c.2497-1421_2497-1420insTATATATATATATATATATATATATA TATGTAAA	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MICAL1_chr6_109439062_109460772	109448097	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG01981.hp1 others(5): Show HG00639.hp2 HG01099.hp2 HG01981.hp1 HG02273.hp1 HG02486.hp2 HG02602.hp2 HG02922.hp2 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0003c0006 a0001c0002 a0001c0004 a0003c0006	a0001c0002t0001 a0001c0004t0001 a0003c0006t0003 a0001c0002t0001 a0001c0004t0001 a0003c0006t0003	a0001c0002t0001g0027 a0001c0002t0001g0042 a0001c0002t0001g0079 others(2): Show a0001c0002t0001g0027 a0001c0002t0001g0042 a0001c0002t0001g0079 a0001c0004t0001g0150 a0003c0006t0003g0159	8	187	0.0428	34	c.185 others(51): Show c.1855+105_1855+106insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	MICAL1	ENSG00000135596.18	transcript	ENST00000358807.8	protein_coding	13/24			chr6	TogoVar
MICALL1_chr22_37901297_37947822	37922577	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	299	0.0033	34	c.102 others(51): Show c.1024+176_1024+177insATATATATATATATATATATATATATAT ATATAT	MICALL1	ENSG00000100139.14	transcript	ENST00000215957.10	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
MICA_chr6_31398595_31420315	31409309	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0085 a0004c0005t0007g0085	1	263	0.0038	34	c.71- others(49): Show c.71-1221_71-1220insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
MID2_chrX_107820866_107936637	107845525	A A	ACACTCTC others(27): Show ACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	78	0.0128	34	c.720 others(51): Show c.720+4141_720+4142insACTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MIEN1_chr17_39723510_39735532	39724272	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	1	137	0.0073	34	c.52 others(45): Show c.5249_*5250insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MIEN1	ENSG00000141741.12	transcript	ENST00000394231.8	protein_coding		4237		chr17	TogoVar
MKRN1_chr7_140448033_140484505	140451616	C C	CAATTAAC others(27): Show CAATTAACACTTAATTAACACTGTTAATTGCAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	432	0.0023	34	c.29 others(45): Show c.2900_*2901insAATTGCAATTAACAGTGTTAATTAAGTGTTAATT	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding		1416		chr7	TogoVar
MKRN1_chr7_140448033_140484505	140474005	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	256	0.0039	34	c.186 others(51): Show c.186-1995_186-1994insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/7			chr7	TogoVar
MKRN3_chr15_23560674_23573044	23565366	A A	AAGCGTGC others(27): Show AAGCGTGCATGACCGAAACCAGAAGAGATTAAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	34	c.-41 others(43): Show c.-417_-416insAGCGTGCATGACCGAAACCAGAAGAGATTAAAGT	MKRN3	ENSG00000179455.10	transcript	ENST00000314520.6	protein_coding		307		chr15	TogoVar
MLC1_chr22_50054391_50090426	50081049	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp1 HG01109.hp1 HG02622.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0069 a0003c0003t0001g0068 a0001c0001t0001g0069 a0003c0003t0001g0068	2	200	0.0100	34	c.268 others(49): Show c.268-653_268-652insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	3/11			chr22	TogoVar
MLIP_chr6_54106443_54271280	54251575	G G	GCATATAA others(27): Show GCATATAATATATAATACAAATATATATATTATAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01261.hp2 HG01258.hp2 HG01261.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0236 a0002c0003t0001g0130 a0001c0001t0001g0236 a0002c0003t0001g0130	2	246	0.0081	34	c.292 others(53): Show c.2923-5682_2923-5649dupCAAATATATATATTATAACATATAAT ATATAATA	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MLIP_chr6_54106443_54271280	54252004	C C	CATAATAT others(27): Show CATAATATATAATATAAATATATATATTATAACAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG04228.hp1 HG00621.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0230 a0002c0003t0001g0131 a0001c0001t0001g0230 a0002c0003t0001g0131	2	162	0.0123	34	c.292 others(53): Show c.2923-5245_2923-5212dupATTATAACATATAATATATAATATAA ATATATAT	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MLPH_chr2_237482251_237560322	237524302	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02976.hp2 HG03471.hp2 HG02723.hp1 HG02976.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005	a0003c0003t0002g0237 a0003c0003t0003g0137 a0003c0003t0005g0139 a0003c0003t0002g0237 a0003c0003t0003g0137 a0003c0003t0005g0139	3	185	0.0162	34	c.676 others(51): Show c.676-1280_676-1279insTATATATATATATATATATATATATATA TATATA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543371	G G	GGGGACAG others(27): Show GGGGACAGTGGTGAATGGGGACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	283	0.0035	34	c.153 others(51): Show c.1539+725_1539+726insATGGGGACAGTGGTGAGTGGAGGGACAG TGGTGA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543491	G G	GGGGGGAC others(27): Show GGGGGGACAGTGGTGAGTGGGGACAGTAATGAGTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0090 a0005c0004t0004g0090	1	262	0.0038	34	c.153 others(51): Show c.1539+835_1539+836insGGACAGTGGTGAGTGGGGACAGTAATGA GTCGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543612	T T	TGGGGGAC others(27): Show TGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0188 a0004c0005t0004g0188	1	184	0.0054	34	c.153 others(51): Show c.1539+963_1539+964insGGTGAGTGGGCACGGTAGTGAGTGGGGG GACAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543974	G G	GGAGGGGA others(27): Show GGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp2 HG02572.hp2 HG03041.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0122 a0006c0006t0003g0129 a0006c0006t0003g0122 a0006c0006t0003g0129	2	270	0.0074	34	c.153 others(53): Show c.1539+1316_1539+1317insAGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544028	A A	AGGACAGT others(27): Show AGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0025 a0025	a0025c0030 a0025c0030	a0025c0030t0001 a0025c0030t0001	a0025c0030t0001g0038 a0025c0030t0001g0038	1	181	0.0055	34	c.153 others(53): Show c.1539+1386_1539+1387insCACGGTGGTGAGTGGGGGGACAGTGG TGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544046	G G	GGACAGTG others(27): Show GGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0012 a0005c0004t0002g0012	1	258	0.0039	34	c.153 others(53): Show c.1539+1387_1539+1388insGACAGTGGTGAGTGGGGGACAGTGGT GAGTGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237544162	G G	GGGGGCAC others(27): Show GGGGGCACAGTGGTGAGTGGGGGACAGTAGTGAGT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0183 a0004c0005t0002g0183	1	275	0.0036	34	c.153 others(53): Show c.1539+1507_1539+1508insCACAGTGGTGAGTGGGGGACAGTAGT GAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544907	G G	GAGGACAG others(27): Show GAGGACAGTGGTGAGTGGGGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02976.hp1 HG02886.hp2 HG02976.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0257 a0004c0014t0002g0258 a0004c0014t0002g0257 a0004c0014t0002g0258	2	278	0.0072	34	c.154 others(53): Show c.1540-1699_1540-1698insAGGACAGTGGTGAGTGGGGGGGACAG TGGTGAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLXIP_chr12_122073756_122152344	122121010	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18961.hp2 NA19010.hp2 HG03688.hp2 NA18961.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0040 a0002c0002t0002 a0002c0002t0040	a0002c0002t0002g0249 a0002c0002t0002g0273 a0002c0002t0040g0262 a0002c0002t0002g0249 a0002c0002t0002g0273 a0002c0002t0040g0262	3	62	0.0484	34	c.414 others(51): Show c.414-6228_414-6227insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MLXIP_chr12_122073756_122152344	122124211	T T	TCCTCAGC others(27): Show TCCTCAGCCGTCCCCCCACCCTCAGCCGTCCCCCA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0028 a0001c0008t0028	a0001c0008t0028g0018 a0001c0008t0028g0018	1	352	0.0028	34	c.414 others(51): Show c.414-3035_414-3002dupTCCCCCCACCCTCAGCCGTCCCCCACCT CAGCCG	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MLXIP_chr12_122073756_122152344	122124414	A A	ACCTCAGC others(27): Show ACCTCAGCCGTCCCCCTCCTCAGCCGTCCCCCCGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00558.hp2 others(81): Show HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03209.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp1 HG04228.hp2 NA18612.hp2 NA18943.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18961.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18974.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp2 NA18995.hp1 NA18999.hp2 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19060.hp2 NA19066.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0010 a0014	a0001c0008 a0002c0002 a0002c0004 others(7): Show a0001c0008 a0002c0002 a0002c0004 a0002c0010 a0002c0011 a0002c0024 a0006c0013 a0007c0023 a0010c0021 a0014c0022	a0001c0008t0028 a0001c0008t0055 a0002c0002t0002 others(21): Show a0001c0008t0028 a0001c0008t0055 a0002c0002t0002 a0002c0002t0012 a0002c0002t0016 a0002c0002t0023 a0002c0002t0026 a0002c0002t0027 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0040 a0002c0002t0044 a0002c0004t0005 a0002c0004t0066 a0002c0010t0017 a0002c0011t0002 a0002c0011t0016 a0002c0011t0036 a0002c0024t0002 a0006c0013t0002 a0007c0023t0002 a0010c0021t0076 a0014c0022t0023	a0001c0008t0028g0016 a0001c0008t0028g0018 a0001c0008t0055g0215 others(80): Show a0001c0008t0028g0016 a0001c0008t0028g0018 a0001c0008t0055g0215 a0002c0002t0002g0005 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0256 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0263 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0273 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0329 a0002c0002t0002g0340 a0002c0002t0002g0346 a0002c0002t0012g0004 a0002c0002t0012g0210 a0002c0002t0012g0211 a0002c0002t0012g0212 a0002c0002t0016g0177 a0002c0002t0016g0186 a0002c0002t0016g0269 a0002c0002t0023g0260 a0002c0002t0026g0187 a0002c0002t0026g0202 a0002c0002t0027g0014 a0002c0002t0027g0015 a0002c0002t0037g0219 a0002c0002t0038g0230 a0002c0002t0039g0228 a0002c0002t0040g0262 a0002c0002t0044g0203 a0002c0004t0005g0007 a0002c0004t0005g0008 a0002c0004t0005g0009 a0002c0004t0005g0010 a0002c0004t0005g0017 a0002c0004t0066g0011 a0002c0010t0017g0169 a0002c0010t0017g0170 a0002c0010t0017g0171 a0002c0010t0017g0172 a0002c0011t0002g0257 a0002c0011t0016g0005 a0002c0011t0036g0264 a0002c0024t0002g0328 a0006c0013t0002g0229 a0007c0023t0002g0341 a0010c0021t0076g0012 a0014c0022t0023g0261	84	325	0.2585	34	c.414 others(51): Show c.414-2811_414-2810insCGCCCTCAGCCGTCCCCCTCCTCAGCCG TCCCCC	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MLXIP_chr12_122073756_122152344	122124414	A A	ATCTCAGC others(27): Show ATCTCAGCCGTCCCCCTCCTCAGCCGTCCCCCCGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02027.hp2 HG03704.hp1 others(5): Show HG00621.hp2 HG02027.hp2 HG03704.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA19007.hp1 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0041 a0002c0002t0071 a0002c0002t0010 a0002c0002t0041 a0002c0002t0071	a0002c0002t0010g0019 a0002c0002t0010g0022 a0002c0002t0010g0023 others(5): Show a0002c0002t0010g0019 a0002c0002t0010g0022 a0002c0002t0010g0023 a0002c0002t0010g0024 a0002c0002t0010g0025 a0002c0002t0010g0026 a0002c0002t0041g0020 a0002c0002t0071g0021	8	249	0.0321	34	c.414 others(51): Show c.414-2842_414-2841insTCTCAGCCGTCCCCCTCCTCAGCCGTCC CCCCGC	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16			chr12	TogoVar
MMAA_chr4_145614385_145665033	145643649	T T	TTTTTTTT others(27): Show TTTTTTTTTTGCTCACAGGTCTTCCACCAATCTAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	350	0.0029	34	c.562 others(51): Show c.562+1164_562+1165insTTTTTTTTTGCTCACAGGTCTTCCACCA ATCTAC	MMAA	ENSG00000151611.17	transcript	ENST00000649156.2	protein_coding	3/6			chr4	TogoVar
MME_chr3_155075319_155188704	155133062	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	170	0.0059	34	c.721 others(51): Show c.721-5022_721-5021insATATATATATATATATATATATATATAT ATATAT	MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
MMP17_chr12_131823393_131856771	131827362	G G	GGGGGGGG others(27): Show GGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0328 a0001c0003t0003g0328	1	394	0.0025	34	c.-11 others(45): Show c.-1133_-1132insGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1030		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827366	G G	GGGGGGGG others(27): Show GGGGGGGGGGGGGGGGGGGGAGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0226 a0001c0002t0001g0226	1	319	0.0031	34	c.-11 others(45): Show c.-1129_-1128insGGGGGGGGGGGGGGGGGGGAGGGGGGGGTGGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1026		chr12	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTGT others(27): Show GTGTGTGTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	333	0.0030	34	c.-36 others(45): Show c.-3640_-3639insTATATATATATATATATATATATATATACACACA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	333	0.0030	34	c.-36 others(45): Show c.-3640_-3639insTATATATATATATATATATATATACACACACACA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMP26_chr11_4699784_4997429	4986936	T T	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02056.hp2 HG02273.hp1 HG01978.hp1 HG02056.hp2 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0089 a0002c0002t0001g0093 a0002c0002t0001g0056 a0002c0002t0001g0089 a0002c0002t0001g0093	3	183	0.0164	34	c.-14 others(53): Show c.-144-1109_-144-1108insTCTCTCTCTCCCTCTCTCTCTCTCTC TCTCTCTC	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MNAT1_chr14_60729761_60974965	60841381	A A	ATTGTGTG others(27): Show ATTGTGTGTGTTTTTAACACATACAACACATAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp1 HG02280.hp1 others(4): Show HG00621.hp2 HG01109.hp1 HG02280.hp1 HG02615.hp1 HG02895.hp1 HG02970.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0106 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0106 a0001c0001t0001g0156 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0003g0019	7	269	0.0260	34	c.687 others(53): Show c.687+22585_687+22618dupCACATACAACACATAAAGTTGTGTGT GTTTTTAA	MNAT1	ENSG00000020426.11	transcript	ENST00000261245.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
MND1_chr4_153339688_153420118	153408914	A A	ATATATAT others(27): Show ATATATATATATATATATATAAATACATTTCATTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	284	0.0035	34	c.467 others(47): Show c.467-46_467-13dupTATATATATAAATACATTTCATTTTATATATA TA	MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	168	0.0060	34	c.226 others(51): Show c.226-3489_226-3488insATATATATATATATATATATTTTTTTTT TTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	168	0.0060	34	c.226 others(51): Show c.226-3489_226-3488insATATATATATATATATATATATTTTTTT TTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02735.hp1 HG03486.hp1 others(1): Show HG01123.hp1 HG02735.hp1 HG03486.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0170 a0001c0001t0001g0187 others(1): Show a0001c0001t0001g0125 a0001c0001t0001g0170 a0001c0001t0001g0187 a0001c0001t0001g0209	4	171	0.0234	34	c.226 others(51): Show c.226-3489_226-3488insATATATATATATATATATATATATTTTT TTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	168	0.0060	34	c.226 others(51): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT TTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar

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