Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAP7_chr6_136337734_136555422	136551940	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0243 a0002c0002t0002g0243	1	7	0.1429	-21	c.-15 others(32): Show c.-1553_-1533delTTTTTTTTTTTTTTTTTTTTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding		1519		chr6	TogoVar
MAPK8_chr10_48301677_48444360	48356841	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp1 HG02145.hp1 others(13): Show HG00735.hp2 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02965.hp2 HG03139.hp1 HG03471.hp1 HG03516.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0025 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029	a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0101 others(13): Show a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0113 a0001c0001t0003g0287 a0001c0001t0007g0090 a0001c0001t0025g0114 a0001c0001t0028g0106 a0001c0001t0029g0107	16	42	0.3810	-21	c.-49 others(40): Show c.-49-44752_-49-44732delAAAAAAAAAAAAAAAAAAAAA	MAPK8	ENSG00000107643.17	transcript	ENST00000374189.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAPKAP1_chr9_125432394_125712208	125698289	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	159	0.0063	-21	c.-70 others(38): Show c.-70+8661_-70+8681delATATATATATATATATATATA	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	1/11			chr9	TogoVar
MAPRE2_chr18_35036413_35148470	35096789	TATAAGTA others(14): Show TATAAGTAATACTTAATACTTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(84): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02056.hp2 HG02071.hp1 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02622.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18953.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18981.hp2 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19043.hp1 NA19055.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19079.hp1 NA19084.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(16): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042	a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0005g0016 others(79): Show a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0163 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0168 a0001c0001t0005g0170 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0195 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0204 a0001c0001t0006g0006 a0001c0001t0006g0162 a0001c0001t0006g0164 a0001c0001t0006g0169 a0001c0001t0006g0172 a0001c0001t0006g0180 a0001c0001t0006g0182 a0001c0001t0006g0188 a0001c0001t0006g0189 a0001c0001t0006g0196 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0202 a0001c0001t0006g0262 a0001c0001t0007g0025 a0001c0001t0007g0225 a0001c0001t0007g0226 a0001c0001t0007g0227 a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0007g0231 a0001c0001t0008g0011 a0001c0001t0008g0014 a0001c0001t0008g0118 a0001c0001t0008g0125 a0001c0001t0008g0127 a0001c0001t0008g0128 a0001c0001t0008g0296 a0001c0001t0009g0217 a0001c0001t0009g0242 a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0009g0245 a0001c0001t0009g0246 a0001c0001t0009g0249 a0001c0001t0009g0250 a0001c0001t0009g0258 a0001c0001t0011g0334 a0001c0001t0015g0240 a0001c0001t0015g0260 a0001c0001t0015g0261 a0001c0001t0017g0179 a0001c0001t0017g0181 a0001c0001t0017g0203 a0001c0001t0023g0006 a0001c0001t0023g0171 a0001c0001t0024g0237 a0001c0001t0024g0238 a0001c0001t0028g0259 a0001c0001t0036g0123 a0001c0001t0037g0316 a0001c0001t0038g0321 a0001c0001t0039g0251 a0001c0001t0040g0185 a0001c0001t0041g0158 a0001c0001t0042g0113	87	368	0.2364	-21	c.251 others(36): Show c.251-639_251-619delCTTAATAAGTAATACTTAATA	MAPRE2	ENSG00000166974.13	transcript	ENST00000300249.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAPT_chr17_45889554_46033334	45903945	ATATATAT others(14): Show ATATATATTATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0186 a0005c0006t0002g0186	1	190	0.0053	-21	c.-18 others(38): Show c.-18+9282_-18+9302delATATATTATATATTATATATT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62793490	TCACCACC others(14): Show TCACCACCACCACCTCCATCAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0215 a0002c0002t0002g0215	1	278	0.0036	-21	c.91- others(36): Show c.91-4912_91-4892delGTGATGGAGGTGGTGGTGGTG	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	2/10			chr17	TogoVar
MARCHF11_chr5_16062139_16184791	16085939	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18994.hp2 NA18979.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	61	0.0328	-21	c.886 others(38): Show c.886+4929_886+4949delTTTTTTTTTTTTTTTTTTTTT	MARCHF11	ENSG00000183654.9	transcript	ENST00000332432.9	protein_coding	3/3			chr5	TogoVar
MARCHF1_chr4_163519718_164389019	164213203	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02132.hp2 NA18944.hp1 others(1): Show HG02080.hp1 HG02132.hp2 NA18944.hp1 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0008	a0001c0001t0001g0007 a0001c0002t0002g0065 a0002c0003t0001g0006 others(1): Show a0001c0001t0001g0007 a0001c0002t0002g0065 a0002c0003t0001g0006 a0002c0003t0008g0014	4	16	0.2500	-21	c.-32 others(44): Show c.-322-101562_-322-101542delTAATAATAATAATAATAATAA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164352582	GGCCTGCC others(14): Show GGCCTGCCCTAAAAGAGTTCCT	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03490.hp1 HG04115.hp1 others(3): Show HG02132.hp2 HG03490.hp1 HG04115.hp1 NA18963.hp2 NA19058.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0003 a0002c0003t0001 a0001c0001t0001 a0001c0002t0003 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0002t0003g0004 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0002t0003g0004 a0002c0003t0001g0002 a0002c0003t0001g0005 a0002c0003t0001g0006	6	102	0.0588	-21	c.-32 others(42): Show c.-323+31267_-323+31287delAGGAACTCTTTTAGGGCAGGC	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF2_chr19_8408305_8444017	8417748	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0159 a0001c0006t0003g0159	1	17	0.0588	-21	c.-52 others(38): Show c.-52-4030_-52-4010delTTTTTTTTTTTTTTTTTTTTT	MARCHF2	ENSG00000099785.11	transcript	ENST00000215555.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MARCHF4_chr2_216252865_216377483	216320654	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19030.hp2 HG03041.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0038 a0001c0004t0011g0041 a0001c0004t0011g0038 a0001c0004t0011g0041	2	328	0.0061	-21	c.517 others(40): Show c.517-36946_517-36926delGAAAGAAAGAAAGAAAGAAAG	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARCHF4_chr2_216252865_216377483	216320655	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	328	0.0030	-21	c.517 others(40): Show c.517-36947_517-36927delAGAAAGAAAGAAAGAAAGAAA	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARF1_chr16_15589387_15648154	15591957	TATATCTA others(14): Show TATATCTATATATAATATATAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02280.hp1 HG02895.hp1 others(1): Show HG01496.hp1 HG02280.hp1 HG02895.hp1 HG02897.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0006 a0001c0001t0001 a0004c0005t0006	a0001c0001t0001g0065 a0004c0005t0006g0004 a0001c0001t0001g0065 a0004c0005t0006g0004	4	389	0.0103	-21	c.47 others(32): Show c.4715_*4735delCTATATATTATATATAGATAT	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding		2429		chr16	TogoVar
MARF1_chr16_15589387_15648154	15602494	CAAGACGA others(14): Show CAAGACGAAGACGACGATGAAG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0035 a0001c0001t0016g0035	1	392	0.0026	-21	c.441 others(38): Show c.4414-312_4414-292delCTTCATCGTCGTCTTCGTCTT	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding	22/26			chr16	TogoVar
MARK2_chr11_63834110_63916020	63857354	TTCTCCAT others(14): Show TTCTCCATGTTGGTCAGGCTGG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp2 HG02055.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0121 a0001c0001t0008g0122 a0001c0001t0008g0121 a0001c0001t0008g0122	2	232	0.0086	-21	c.54+ others(38): Show c.54+17820_54+17840delCATGTTGGTCAGGCTGGTCTC	MARK2	ENSG00000072518.23	transcript	ENST00000402010.8	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
MAST1_chr19_12833515_12879952	12853871	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	27	0.0370	-21	c.107 others(40): Show c.1077+1495_1077+1515delAATAATAATAATAATAATAAT	MAST1	ENSG00000105613.10	transcript	ENST00000251472.9	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66837884	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 NA18906.hp1 HG02559.hp2 HG02572.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0004c0011 a0001c0002 a0004c0007 a0004c0011	a0001c0002t0005 a0004c0007t0004 a0004c0011t0014 a0001c0002t0005 a0004c0007t0004 a0004c0011t0014	a0001c0002t0005g0053 a0004c0007t0004g0065 a0004c0011t0014g0066 a0001c0002t0005g0053 a0004c0007t0004g0065 a0004c0011t0014g0066	3	91	0.0330	-21	c.642 others(40): Show c.642+49092_642+49112delATATATATATTTTTTTTTTTT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAX_chr14_65070127_65107517	65089756	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18951.hp2 HG01361.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0205 a0001c0001t0007g0206 a0001c0001t0007g0205 a0001c0001t0007g0206	2	4	0.5000	-21	c.171 others(38): Show c.171+3931_171+3951delTTTTTTTTTTTTTTTTTTTTT	MAX	ENSG00000125952.21	transcript	ENST00000358664.9	protein_coding	3/4			chr14	TogoVar
MB21D2_chr3_192791815_192922856	192828591	CATATATA others(14): Show CATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	49	0.0204	-21	c.212 others(40): Show c.212-28962_212-28942delTATATATATATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MB21D2_chr3_192791815_192922856	192828593	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18981.hp2 HG04184.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0027 a0001c0002t0003g0059 a0001c0001t0001g0027 a0001c0002t0003g0059	2	256	0.0078	-21	c.212 others(40): Show c.212-28964_212-28944delTATATATATATATATATATAT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD3_chr19_1568596_1597865	1587959	ATGTCAGA others(14): Show ATGTCAGACAACTGAGACAGCT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0052 a0001c0001t0027g0052	1	398	0.0025	-21	c.111 others(38): Show c.111-2766_111-2746delAGCTGTCTCAGTTGTCTGACA	MBD3	ENSG00000071655.18	transcript	ENST00000434436.8	protein_coding	1/6			chr19	TogoVar
MBLAC1_chr7_100121967_100133495	100131268	TCTTTTCT others(14): Show TCTTTTCTTTTCTTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	388	0.0026	-21	c.30 others(32): Show c.3073_*3093delCTTTTCTTTTCTTTTCTTTTC	MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding		2774		chr7	TogoVar
MBLAC1_chr7_100121967_100133495	100131304	CTTTTCTT others(14): Show CTTTTCTTTTCTTTTCTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	387	0.0026	-21	c.31 others(32): Show c.3109_*3129delTTTTCTTTTCTTTTCTTTTCT	MBLAC1	ENSG00000214309.5	transcript	ENST00000398075.4	protein_coding		2810		chr7	TogoVar
MBLAC2_chr5_90453209_90479771	90477697	ACTGGTGG others(14): Show ACTGGTGGAGGGTGTCCAGGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	376	0.0027	-21	c.-34 others(32): Show c.-3426_-3406delAACCTGGACACCCTCCACCAG	MBLAC2	ENSG00000176055.10	transcript	ENST00000316610.7	protein_coding		2927		chr5	TogoVar
MBNL1_chr3_152263929_152470780	152347458	TTATGTCT others(14): Show TTATGTCTTTTAAGTCTTCAAA	T T	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	336	0.0030	-21	c.174 others(40): Show c.174+47094_174+47114delTGTCTTTTAAGTCTTCAAATA	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152400280	ATTTATAA others(14): Show ATTTATAATATGCCACTTTAGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(9): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00738.hp2 HG01071.hp1 HG01167.hp1 HG01192.hp2 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG02300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0175 a0001c0001t0004g0181 others(9): Show a0001c0001t0004g0085 a0001c0001t0004g0175 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0212 a0001c0001t0004g0213	12	336	0.0357	-21	c.175 others(40): Show c.175-14653_175-14633delTATGCCACTTTAGTTTTATAA	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL2_chr13_97217333_97399120	97326099	AGTCCAGG others(14): Show AGTCCAGGTGATGCAGTGGAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG01071.hp1 others(38): Show HG00140.hp1 HG00423.hp2 HG01071.hp1 HG01167.hp1 HG01192.hp2 HG01257.hp1 HG01261.hp2 HG01516.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02148.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02572.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03490.hp1 HG03540.hp2 HG03688.hp2 HG03927.hp1 HG04228.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18951.hp1 NA18966.hp1 NA18979.hp2 NA18988.hp1 NA18990.hp1 NA19065.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 others(38): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0203 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0003g0163 a0001c0001t0004g0172 a0001c0001t0004g0210 a0001c0001t0004g0211	41	252	0.1627	-21	c.175 others(38): Show c.175-8175_175-8155delTCCAGGTGATGCAGTGGAATG	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97368591	AATAAATA others(14): Show AATAAATATTTGACCATGTGTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG01071.hp1 others(35): Show HG00140.hp1 HG00423.hp2 HG01071.hp1 HG01167.hp1 HG01261.hp2 HG01516.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02040.hp2 HG02083.hp1 HG02148.hp1 HG02280.hp2 HG02293.hp2 HG02717.hp1 HG02896.hp2 HG02970.hp1 HG03195.hp1 HG03490.hp1 HG03540.hp2 HG03688.hp2 HG03927.hp1 HG04228.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18951.hp1 NA18966.hp1 NA18979.hp2 NA18988.hp1 NA18990.hp1 NA19065.hp2 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 others(35): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0203 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0193 a0001c0001t0003g0163	38	252	0.1508	-21	c.104 others(40): Show c.1048+3424_1048+3444delAATATTTGACCATGTGTCATA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBOAT2_chr2_8847690_9008684	8862933	TTATTGGT others(14): Show TTATTGGTATATATAGTATATA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG04115.hp2 NA20905.hp2 HG02735.hp1 HG04115.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0092	3	160	0.0188	-21	c.105 others(38): Show c.1053-232_1053-212delTATATACTATATATACCAATA	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	10/12			chr2	TogoVar
MBOAT7_chr19_54168415_54194580	54168862	CTTTTCTT others(14): Show CTTTTCTTTTCTTTTCTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0307 a0001c0002t0004g0307	1	255	0.0039	-21	c.51 others(32): Show c.5161_*5181delAGAAAAGAAAAGAAAAGAAAA	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		4552		chr19	TogoVar
MCCC1_chr3_183010218_183104496	183102758	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	20	0.0500	-21	c.-33 others(32): Show c.-3339_-3319delAAAAAAAAAAAAAAAAAAAAA	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding		3263		chr3	TogoVar
MCC_chr5_113017106_113493453	113204976	CTAATGCA others(14): Show CTAATGCAGGGAGTTTGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02040.hp1 HG02257.hp2 others(8): Show HG00733.hp2 HG02040.hp1 HG02257.hp2 HG02280.hp1 HG02615.hp1 HG02615.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0001c0009 a0001c0016 others(6): Show a0001c0007 a0001c0009 a0001c0016 a0001c0017 a0001c0018 a0001c0022 a0001c0025 a0001c0045 a0003c0035	a0001c0007t0034 a0001c0007t0038 a0001c0009t0008 others(8): Show a0001c0007t0034 a0001c0007t0038 a0001c0009t0008 a0001c0016t0006 a0001c0017t0003 a0001c0018t0007 a0001c0022t0001 a0001c0025t0041 a0001c0025t0042 a0001c0045t0027 a0003c0035t0001	a0001c0007t0034g0073 a0001c0007t0038g0076 a0001c0009t0008g0072 others(8): Show a0001c0007t0034g0073 a0001c0007t0038g0076 a0001c0009t0008g0072 a0001c0016t0006g0042 a0001c0017t0003g0044 a0001c0018t0007g0085 a0001c0022t0001g0064 a0001c0025t0041g0063 a0001c0025t0042g0062 a0001c0045t0027g0061 a0003c0035t0001g0001	11	158	0.0696	-21	c.628 others(40): Show c.628-53575_628-53555delAGCCCCAAACTCCCTGCATTA	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113299292	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0084 a0001c0004t0035g0084	1	7	0.1429	-21	c.627 others(40): Show c.627+41206_627+41226delTTTTTTTTTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCF2L2_chr3_183173041_183433619	183216568	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0030 a0030	a0030c0029 a0030c0029	a0030c0029t0001 a0030c0029t0001	a0030c0029t0001g0115 a0030c0029t0001g0115	1	170	0.0059	-21	c.237 others(38): Show c.2371-495_2371-475delAAAAAAAAATATATATATATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183216570	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01123.hp1 HG01169.hp2 others(13): Show HG00558.hp1 HG01123.hp1 HG01169.hp2 HG01952.hp1 HG02074.hp1 HG02523.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp1 NA18612.hp2 NA18941.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp2 NA18994.hp1 NA19010.hp1	a0001 a0006 a0008 others(1): Show a0001 a0006 a0008 a0027	a0001c0001 a0006c0008 a0008c0007 others(1): Show a0001c0001 a0006c0008 a0008c0007 a0027c0024	a0001c0001t0001 a0006c0008t0001 a0008c0007t0001 others(1): Show a0001c0001t0001 a0006c0008t0001 a0008c0007t0001 a0027c0024t0003	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0050 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0114 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0141 a0006c0008t0001g0042 a0006c0008t0001g0162 a0008c0007t0001g0044 a0008c0007t0001g0069 a0027c0024t0003g0058	16	163	0.0982	-21	c.237 others(38): Show c.2371-497_2371-477delAAAAAAAAAAATATATATATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183216572	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG04115.hp1 others(5): Show HG00438.hp1 HG00609.hp1 HG04115.hp1 NA18747.hp2 NA18952.hp1 NA18984.hp2 NA19007.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0001c0001t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0123 others(5): Show a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0123 a0001c0001t0005g0172 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0078 a0002c0002t0001g0139	8	157	0.0510	-21	c.237 others(38): Show c.2371-499_2371-479delAAAAAAAAAAAAATATATATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183216574	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02818.hp2 HG03098.hp1 others(2): Show HG02132.hp2 HG02818.hp2 HG03098.hp1 HG03195.hp1 HG03831.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0011c0011	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0004c0004t0002 a0011c0011t0001	a0001c0001t0002g0054 a0002c0002t0001g0011 a0002c0002t0002g0017 others(2): Show a0001c0001t0002g0054 a0002c0002t0001g0011 a0002c0002t0002g0017 a0004c0004t0002g0120 a0011c0011t0001g0028	5	116	0.0431	-21	c.237 others(38): Show c.2371-501_2371-481delAAAAAAAAAAAAAAATATATA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	21/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113013168	CAGAGAGG others(14): Show CAGAGAGGTGTGCACCAGTGGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19240.hp1 HG01243.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0020 a0001c0001t0006 a0001c0001t0020	a0001c0001t0006g0108 a0001c0001t0020g0107 a0001c0001t0006g0108 a0001c0001t0020g0107	2	114	0.0175	-21	c.80- others(36): Show c.80-1592_80-1572delAGAGGTGTGCACCAGTGGAAG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113055383	CACACACA others(14): Show CACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18946.hp1 HG02572.hp2 NA18946.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0033 a0001c0003t0001 a0001c0005t0033	a0001c0003t0001g0086 a0001c0005t0033g0106 a0001c0003t0001g0086 a0001c0005t0033g0106	2	86	0.0233	-21	c.370 others(38): Show c.370-5209_370-5189delACACACACACACACACACACA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29			chr13	TogoVar
MCM10_chr10_13156558_13216110	13188537	TTATATTA others(14): Show TTATATTAAATAACATAGGTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(55): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG02055.hp2 HG02109.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02602.hp1 HG02698.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03831.hp1 HG03834.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18948.hp1 NA18973.hp1 NA18980.hp1 NA18991.hp2 NA19003.hp1 NA19009.hp2 NA19030.hp1 NA19058.hp2 NA19080.hp1 NA19084.hp2 NA21309.hp1	a0001 a0002 a0009 others(4): Show a0001 a0002 a0009 a0010 a0012 a0014 a0016	a0001c0001 a0001c0012 a0002c0003 others(6): Show a0001c0001 a0001c0012 a0002c0003 a0002c0014 a0009c0011 a0010c0013 a0012c0028 a0014c0031 a0016c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0012t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0006 a0002c0003t0009 a0002c0003t0012 a0002c0003t0019 a0002c0014t0003 a0009c0011t0002 a0010c0013t0003 a0012c0028t0003 a0014c0031t0003 a0016c0023t0001	a0001c0001t0001g0074 a0001c0001t0002g0014 a0001c0001t0002g0264 others(52): Show a0001c0001t0001g0074 a0001c0001t0002g0014 a0001c0001t0002g0264 a0001c0001t0003g0149 a0001c0001t0003g0164 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0004g0318 a0001c0012t0001g0150 a0001c0012t0001g0269 a0002c0003t0001g0327 a0002c0003t0002g0126 a0002c0003t0003g0013 a0002c0003t0003g0046 a0002c0003t0003g0145 a0002c0003t0003g0161 a0002c0003t0003g0165 a0002c0003t0003g0166 a0002c0003t0003g0167 a0002c0003t0003g0168 a0002c0003t0003g0184 a0002c0003t0003g0185 a0002c0003t0003g0224 a0002c0003t0003g0228 a0002c0003t0003g0229 a0002c0003t0003g0245 a0002c0003t0003g0275 a0002c0003t0003g0277 a0002c0003t0003g0284 a0002c0003t0003g0285 a0002c0003t0003g0304 a0002c0003t0003g0307 a0002c0003t0003g0310 a0002c0003t0003g0328 a0002c0003t0005g0032 a0002c0003t0005g0176 a0002c0003t0005g0383 a0002c0003t0006g0163 a0002c0003t0006g0376 a0002c0003t0006g0377 a0002c0003t0006g0378 a0002c0003t0009g0107 a0002c0003t0009g0108 a0002c0003t0009g0385 a0002c0003t0009g0387 a0002c0003t0012g0013 a0002c0003t0012g0153 a0002c0003t0019g0047 a0002c0014t0003g0169 a0002c0014t0003g0170 a0009c0011t0002g0006 a0010c0013t0003g0026 a0012c0028t0003g0337 a0014c0031t0003g0276 a0016c0023t0001g0065	58	430	0.1349	-21	c.121 others(38): Show c.1216-325_1216-305delTCCTATATTAAATAACATAGG	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCM2_chr3_127593411_127627436	127611682	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0004 a0001c0021t0001g0004	1	29	0.0345	-21	c.142 others(40): Show c.1428+2673_1428+2693delTTTTTTTTTTTTTTTTTTTTT	MCM2	ENSG00000073111.14	transcript	ENST00000265056.12	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
MCM8_chr20_5945652_6003977	5962352	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG04184.hp2 HG04228.hp1 HG03654.hp2 HG04184.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0003 a0001c0001t0034g0032 a0001c0001t0034g0119 a0001c0001t0001g0003 a0001c0001t0034g0032 a0001c0001t0034g0119	3	225	0.0133	-21	c.790 others(36): Show c.790-909_790-889delTTTTTTTTTTTTTTTTTTTTT	MCM8	ENSG00000125885.13	transcript	ENST00000610722.4	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr20	TogoVar
MCPH1_chr8_6401627_6653508	6576682	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0040 a0013c0017t0040	a0013c0017t0040g0035 a0013c0017t0040g0035	1	11	0.0909	-21	c.221 others(42): Show c.2215-44747_2215-44727delTTTTTTTTTTTTTTTTTTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCPH1_chr8_6401627_6653508	6604184	TTCCAGGT others(14): Show TTCCAGGTTTGCACTGGAAGGA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0025 a0025	a0025c0018 a0025c0018	a0025c0018t0009 a0025c0018t0009	a0025c0018t0009g0113 a0025c0018t0009g0113	1	260	0.0038	-21	c.221 others(42): Show c.2215-17269_2215-17249delTCCAGGTTTGCACTGGAAGGA	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13			chr8	TogoVar
MCPH1_chr8_6401627_6653508	6604185	TCCAGGTT others(14): Show TCCAGGTTTGCACTGGAAGGAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(85): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00621.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01934.hp1 HG02004.hp1 HG02055.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02738.hp2 HG02818.hp1 HG02970.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18945.hp1 NA18950.hp2 NA18952.hp1 NA18956.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18994.hp1 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA21309.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0011 a0012 a0014 a0015 a0018 a0022 a0026 a0034 a0036 a0042	a0001c0001 a0001c0007 a0001c0021 others(33): Show a0001c0001 a0001c0007 a0001c0021 a0002c0002 a0002c0008 a0002c0023 a0002c0030 a0002c0034 a0002c0036 a0002c0067 a0002c0089 a0002c0097 a0003c0003 a0003c0005 a0003c0031 a0003c0065 a0004c0006 a0005c0004 a0007c0013 a0007c0035 a0007c0085 a0008c0051 a0010c0015 a0010c0026 a0011c0011 a0011c0096 a0012c0014 a0014c0024 a0015c0020 a0018c0056 a0018c0059 a0022c0038 a0026c0081 a0034c0039 a0036c0087 a0042c0095	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(58): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0037 a0001c0007t0001 a0001c0007t0004 a0001c0007t0033 a0001c0021t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0014 a0002c0002t0020 a0002c0002t0035 a0002c0008t0005 a0002c0023t0002 a0002c0030t0001 a0002c0030t0014 a0002c0034t0073 a0002c0036t0001 a0002c0067t0002 a0002c0089t0052 a0002c0097t0014 a0003c0003t0003 a0003c0003t0010 a0003c0005t0006 a0003c0005t0017 a0003c0005t0068 a0003c0005t0069 a0003c0031t0010 a0003c0065t0006 a0004c0006t0008 a0004c0006t0062 a0005c0004t0001 a0005c0004t0002 a0007c0013t0003 a0007c0013t0026 a0007c0013t0028 a0007c0035t0003 a0007c0085t0026 a0008c0051t0064 a0010c0015t0070 a0010c0026t0010 a0011c0011t0001 a0011c0011t0002 a0011c0096t0001 a0012c0014t0001 a0012c0014t0019 a0014c0024t0007 a0015c0020t0001 a0015c0020t0018 a0018c0056t0015 a0018c0059t0036 a0022c0038t0074 a0022c0038t0075 a0026c0081t0048 a0034c0039t0015 a0036c0087t0004 a0042c0095t0002	a0001c0001t0001g0025 a0001c0001t0001g0074 a0001c0001t0001g0154 others(85): Show a0001c0001t0001g0025 a0001c0001t0001g0074 a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0261 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0005g0010 a0001c0001t0011g0157 a0001c0001t0012g0009 a0001c0001t0012g0015 a0001c0001t0012g0146 a0001c0001t0019g0190 a0001c0001t0037g0165 a0001c0007t0001g0130 a0001c0007t0001g0137 a0001c0007t0001g0140 a0001c0007t0004g0136 a0001c0007t0033g0135 a0001c0021t0001g0217 a0001c0021t0001g0218 a0002c0002t0001g0198 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0014g0212 a0002c0002t0020g0019 a0002c0002t0020g0196 a0002c0002t0035g0195 a0002c0008t0005g0021 a0002c0008t0005g0150 a0002c0023t0002g0102 a0002c0030t0001g0128 a0002c0030t0014g0132 a0002c0034t0073g0187 a0002c0036t0001g0172 a0002c0067t0002g0106 a0002c0089t0052g0189 a0002c0097t0014g0126 a0003c0003t0003g0006 a0003c0003t0003g0202 a0003c0003t0010g0013 a0003c0005t0006g0012 a0003c0005t0006g0152 a0003c0005t0006g0170 a0003c0005t0006g0171 a0003c0005t0017g0161 a0003c0005t0068g0145 a0003c0005t0069g0144 a0003c0031t0010g0255 a0003c0065t0006g0249 a0004c0006t0008g0105 a0004c0006t0062g0098 a0005c0004t0001g0069 a0005c0004t0001g0070 a0005c0004t0001g0085 a0005c0004t0001g0092 a0005c0004t0001g0117 a0005c0004t0002g0082 a0007c0013t0003g0192 a0007c0013t0026g0199 a0007c0013t0028g0147 a0007c0013t0028g0148 a0007c0035t0003g0029 a0007c0085t0026g0134 a0008c0051t0064g0231 a0010c0015t0070g0049 a0010c0026t0010g0050 a0010c0026t0010g0121 a0011c0011t0001g0048 a0011c0011t0001g0115 a0011c0011t0001g0247 a0011c0011t0002g0246 a0011c0096t0001g0139 a0012c0014t0001g0234 a0012c0014t0019g0233 a0014c0024t0007g0080 a0015c0020t0001g0258 a0015c0020t0018g0257 a0018c0056t0015g0222 a0018c0059t0036g0223 a0022c0038t0074g0044 a0022c0038t0075g0043 a0026c0081t0048g0047 a0034c0039t0015g0064 a0036c0087t0004g0141 a0042c0095t0002g0027	88	260	0.3385	-21	c.221 others(42): Show c.2215-17265_2215-17245delGGTTTGCACTGGAAGGAGCCA	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP1_chr5_94698690_95290094	95201464	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01071.hp2 others(13): Show HG00140.hp1 HG00735.hp1 HG01071.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02145.hp2 HG02165.hp1 HG03098.hp2 HG03471.hp1 HG03710.hp2 NA18906.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0001c0003t0002 a0001c0003t0032 a0001c0004t0001 a0001c0006t0014 a0002c0005t0004	a0001c0001t0003g0082 a0001c0001t0004g0011 a0001c0001t0005g0024 others(13): Show a0001c0001t0003g0082 a0001c0001t0004g0011 a0001c0001t0005g0024 a0001c0002t0001g0031 a0001c0002t0001g0042 a0001c0002t0001g0067 a0001c0002t0001g0078 a0001c0002t0001g0095 a0001c0002t0007g0088 a0001c0002t0008g0066 a0001c0003t0002g0089 a0001c0003t0002g0092 a0001c0003t0032g0035 a0001c0004t0001g0076 a0001c0006t0014g0054 a0002c0005t0004g0009	16	19	0.8421	-21	c.720 others(40): Show c.720+82371_720+82391delAAAAAAAAAAAAAAAAAAAAA	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCU_chr10_72687143_72892694	72804016	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	204	0.0049	-21	c.151 others(40): Show c.151-30341_151-30321delATATATATATATATATATATA	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDFI_chr6_41633468_41659244	41654710	TTCACTGG others(14): Show TTCACTGGAGGCCCAGTGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18949.hp2 NA18975.hp2 others(7): Show HG00408.hp2 NA18949.hp2 NA18975.hp2 NA19010.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19079.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0132 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0132 a0001c0001t0001g0217	10	460	0.0217	-21	c.11 others(32): Show c.1136_*1156delTCACTGGAGGCCCAGTGGGGG	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		467		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37626617	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02559.hp2 others(16): Show HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0017 a0003c0009	a0001c0001t0022 a0001c0001t0028 a0001c0001t0036 others(13): Show a0001c0001t0022 a0001c0001t0028 a0001c0001t0036 a0001c0001t0068 a0001c0001t0092 a0001c0003t0008 a0001c0003t0009 a0001c0003t0040 a0001c0003t0112 a0001c0005t0012 a0001c0005t0069 a0001c0006t0067 a0001c0006t0123 a0001c0007t0119 a0001c0017t0126 a0003c0009t0103	a0001c0001t0022g0022 a0001c0001t0028g0310 a0001c0001t0036g0070 others(16): Show a0001c0001t0022g0022 a0001c0001t0028g0310 a0001c0001t0036g0070 a0001c0001t0036g0071 a0001c0001t0068g0077 a0001c0001t0092g0110 a0001c0003t0008g0128 a0001c0003t0009g0307 a0001c0003t0009g0308 a0001c0003t0040g0125 a0001c0003t0040g0134 a0001c0003t0112g0369 a0001c0005t0012g0067 a0001c0005t0069g0078 a0001c0006t0067g0076 a0001c0006t0123g0378 a0001c0007t0119g0382 a0001c0017t0126g0376 a0003c0009t0103g0305	19	28	0.6786	-21	c.10 others(34): Show c.10730_*10750delAAAAAAAAAAAAAAAAAAAAA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		4061		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37698155	TTTCTCTT others(14): Show TTTCTCTTTCTCTTTCTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0062 a0001c0003t0062	a0001c0003t0062g0036 a0001c0003t0062g0036	1	400	0.0025	-21	c.-13 others(32): Show c.-1365_-1345delGAAAGAGAAAGAGAAAGAGAA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		273		chr6	TogoVar

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