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
GREB1_chr2_11529045_11647788	11618104	C C	CACTCCTG others(169): Show CACTCCTGGGACGAGTCGCCCCTGAGATGGGCCACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCC TGGGACGAGTCGCCCCTGGGATGGGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0005 a0005	a0005c0002 a0005c0002	a0005c0002t0010 a0005c0002t0010	a0005c0002t0010g0119 a0005c0002t0010g0119	1	308	0.0033	176	c.341 others(191): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACGAGTCGCCCCTGAGATGGGCCACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11618136	C C	CACTCCTG others(169): Show CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGACGAGTCGCC CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0006 a0006	a0006c0033 a0006c0033	a0006c0033t0003 a0006c0033t0003	a0006c0033t0003g0266 a0006c0033t0003g0266	1	308	0.0033	176	c.341 others(191): Show c.3413-62_3413-61insCGAGTCGCCCCTGGGATGGGTGACTCCTGG GACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGA TGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACA GGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGA	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GREB1_chr2_11529045_11647788	11618136	C C	CACTCCTG others(169): Show CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18942.hp1 HG01099.hp2 NA18942.hp1	a0001 a0047 a0001 a0047	a0001c0001 a0047c0077 a0001c0001 a0047c0077	a0001c0001t0018 a0047c0077t0002 a0001c0001t0018 a0047c0077t0002	a0001c0001t0018g0258 a0047c0077t0002g0174 a0001c0001t0018g0258 a0047c0077t0002g0174	2	308	0.0065	176	c.341 others(191): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRM5_chr11_88499642_89070982	88687568	T T	TATATTAT others(169): Show TATATTATATATATATATTATATATATTATATATATATAATATATATATA ATATATATATAATATATATATTATATATATATTATATATATATTATATAT ATATTATATATATATTATATGTATATAATATATATATAATATATATAATA TATATATATTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0016 a0002c0010t0016	a0002c0010t0016g0157 a0002c0010t0016g0157	1	184	0.0054	176	c.912 others(195): Show c.912-34166_912-34165insTATATATATATATATATAATATATAT ATATTATATATATTATATATATATTATATACATATAATATATATATAATA TATATATAATATATATATAATATATATATAATATATATATTATATATATA TTATATATATATTATATATATATAATATATATAATATATATATATAATAT	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRTP1_chr13_113319163_113369130	113346105	A A	ACAGTGGA others(169): Show ACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATC TCTGTGGCCGAGAGCAGACCCAGGAGCACCTCTGTGGCTGAGCGGATCCG GGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATCTCTGTGGCCGAG AGCAGACCCAGGAGCACCTCTGTGGCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	288	0.0035	176	c.466 others(193): Show c.466-1147_466-1146insAGCCACAGAGGTGCTCCTGGGTCTGCTC TCGGCCACAGAGATCCTCCTGGGTCTGCTCTCAGCCACAGAGGTCCTCCC GGATCCGCTCAGCCACAGAGGTGCTCCTGGGTCTGCTCTCGGCCACAGAG ATCCTCCTGGGTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346947	T T	TGGGAGGA others(169): Show TGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAG AGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTC TGAAGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGG AGGACCTCTGTGGCAGAGAGCAGACCC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	288	0.0035	176	c.466 others(193): Show c.466-1989_466-1988insGGGTCTGCTCTCTGCCACAGAGGTCCTC CCAGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCTGCTCTCGGCTTCAG AGGTCCTCCCGGATCTGTTCTTGGCCACAGAGGTCCTCCCGGGTCTGCTC TCTGCCACAGAGGTCCTCCCAGATCCGCTCAGCCACAGAGGTCCTCCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347155	C C	CAGGAGGA others(169): Show CAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCG GGAGGACCTCTGTGGCTGAGCGGATCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03239.hp2 NA18943.hp1 others(1): Show HG01975.hp1 HG03239.hp2 NA18943.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0190 a0001c0001t0001g0191 others(1): Show a0001c0001t0001g0106 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0217	4	288	0.0139	176	c.466 others(193): Show c.466-2197_466-2196insAGATCCGCTCAGCCACAGAGGTCCTCCC GGGTCTGCTCTCGGCTTCAGAGGTCCTCCCGGATCTGTTCTTGGCCACAG AGGTCCTCCCGGGTCTGCTCTCTGCCACAGAGGTCCTCCCAGATCCGCTC AGCCACAGAGGTCCTCCCAGGTCCGCTCTCAGCCACAGAGGTCCTCCT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347689	C C	CAGGAGGA others(169): Show CAGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTC TGTGGCCGAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCG GGAGGACCTCTGTGGCTGAGCGGATCT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	288	0.0035	176	c.466 others(193): Show c.466-2731_466-2730insAGATCCGCTCAGCCACAGAGGTCCTCCC GGGTCTGCTCTCGGCTTCAGAGGTCCTCCCGGATCTGTTCTCGGCCACAG AGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCCAGATCCGCTC AGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSE1_chr16_85608322_85681200	85653208	C C	CCTCCCCC others(169): Show CCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCC CCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	290	0.0035	176	c.427 others(193): Show c.427-1069_427-1068insTCCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCCC others(169): Show TCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCC CCCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCCCCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	290	0.0035	176	c.427 others(193): Show c.427-1062_427-1061insTCCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCTCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(169): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	290	0.0035	176	c.427 others(193): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
HAVCR1_chr5_157024413_157064116	157044586	G G	GGAAAGAA others(169): Show GGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAGGAAGGAAGGAAAGAAAGAAAGGAAAGAAG AAAGGAGGAAGGAAGGAAGGAGAGAGAAAGAAAGACAAAGAAAGAAGGAA AGAAAGAAAGAAAGAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0204 a0002c0002t0001g0204	1	352	0.0028	176	c.782 others(193): Show c.782-1905_782-1904insTTTCTTTCTTTCTCTTTCTTTCTTTCTT TCCTTCTTTCTTTGTCTTTCTTTCTCTCTCCTTCCTTCCTTCCTCCTTTC TTCTTTCCTTTCTTTCTTTCCTTCCTTCCTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(169): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03669.hp2 HG02129.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0089 a0001c0001t0004g0011 a0001c0001t0004g0089	2	156	0.0128	176	c.221 others(195): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(169): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19007.hp2 NA19056.hp1 others(1): Show NA18945.hp2 NA19007.hp2 NA19056.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0022 a0001c0002t0003 others(1): Show a0001c0001t0002 a0001c0001t0022 a0001c0002t0003 a0001c0002t0005	a0001c0001t0002g0036 a0001c0001t0022g0079 a0001c0002t0003g0080 others(1): Show a0001c0001t0002g0036 a0001c0001t0022g0079 a0001c0002t0003g0080 a0001c0002t0005g0121	4	156	0.0256	176	c.221 others(195): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(169): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0068 a0001c0001t0029g0068	1	156	0.0064	176	c.221 others(195): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786615	T T	TTCCTTCC others(169): Show TTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0023 a0001c0004t0012g0023	1	156	0.0064	176	c.221 others(195): Show c.2215-6727_2215-6726insTTCCTTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HERC6_chr4_88373852_88448097	88379742	A A	ATATATAA others(169): Show ATATATAAATATATATAATATATAAATATATAAATATATAACATATAAAT ATATATAATATATAAATATATATATAACATATAAATATATATAATATATA AATATATATATAACATATAAATATATATAATATATAAATATATATATAAC ATATAAATATATATAATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02896.hp1 HG02965.hp2 HG02258.hp2 HG02896.hp1 HG02965.hp2	a0006 a0012 a0006 a0012	a0006c0006 a0012c0012 a0006c0006 a0012c0012	a0006c0006t0001 a0012c0012t0001 a0006c0006t0001 a0012c0012t0001	a0006c0006t0001g0086 a0012c0012t0001g0052 a0012c0012t0001g0053 a0006c0006t0001g0086 a0012c0012t0001g0052 a0012c0012t0001g0053	3	174	0.0172	176	c.199 others(191): Show c.199+622_199+623insTATATAAATATATATAATATATAAATATAT AAATATATAACATATAAATATATATAATATATAAATATATATATAACATA TAAATATATATAATATATAAATATATATATAACATATAAATATATATAAT ATATAAATATATATATAACATATAAATATATATAATATATAAATAT	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22			chr4	TogoVar
HERC6_chr4_88373852_88448097	88379937	T T	TATATATA others(169): Show TATATATAATATATAAATATATATAATATATAAATATATATATAATATAT AAATATATATAATATATAAATATATATAATATATAAATATATATAATATA TAAATATATATATAATATATAAATATATATATAATATATAAATATATATA ATATATAAATATATATATAATATATAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0006 a0008c0010t0002g0006	1	174	0.0058	176	c.199 others(191): Show c.199+824_199+825insATATATAAATATATATAATATATAAATATA TATATAATATATAAATATATATAATATATAAATATATATAATATATAAAT ATATATAATATATAAATATATATATAATATATAAATATATATATAATATA TAAATATATATAATATATAAATATATATATAATATATAAATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380376	T T	TATATAAT others(169): Show TATATAATATATAAATATATATATAATATATAAATATATATAATATATAA ATATATATATAATATATAAATATATAAATATATATATAATATATAAATAT ATATAATATATATATAATATATAAATATATATAATATATAAATATATATA TAATATATAAATATATATATAATATAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02165.hp2 others(1): Show HG01168.hp1 HG01169.hp2 HG02165.hp2 HG02300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 others(1): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0003c0003t0001g0147	4	174	0.0230	176	c.199 others(193): Show c.199+1261_199+1262insATATATAAATATATATATAATATATAAA TATATATAATATATAAATATATATATAATATATAAATATATAAATATATA TATAATATATAAATATATATAATATATATATAATATATAAATATATATAA TATATAAATATATATATAATATATAAATATATATATAATATAAATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HSPBAP1_chr3_122734999_122798831	122747738	G G	GCCCCATC others(169): Show GCCCCATCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCAC CCCGTCCGGGAGGTGAGGGGCGTCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0169 a0002c0002t0003g0169	1	350	0.0029	176	c.825 others(193): Show c.825+4852_825+4853insTGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGACGCCCCTCACCTCCCGGACGGGG TGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGATGGGG	HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	6/7			chr3	TogoVar
HSPBAP1_chr3_122734999_122798831	122747738	G G	GCCCCGTC others(169): Show GCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCAC CCCGTCCGGGAGGTGAGGGGCGTCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00558.hp2 others(28): Show HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01257.hp2 HG02293.hp1 HG02738.hp1 HG03491.hp2 HG04184.hp2 NA18941.hp1 NA18964.hp1 NA18969.hp1 NA18973.hp1 NA18990.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19011.hp1 NA19056.hp1 NA19058.hp2 NA19067.hp2 NA19072.hp2 NA19075.hp2 NA19079.hp2 NA19082.hp2 NA19086.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0002c0006 a0008c0010 a0002c0002 a0002c0006 a0008c0010	a0002c0002t0003 a0002c0006t0003 a0008c0010t0003 a0002c0002t0003 a0002c0006t0003 a0008c0010t0003	a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0148 others(24): Show a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0148 a0002c0002t0003g0150 a0002c0002t0003g0151 a0002c0002t0003g0152 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0186 a0002c0002t0003g0187 a0002c0002t0003g0287 a0002c0006t0003g0006 a0008c0010t0003g0173	31	350	0.0886	176	c.825 others(193): Show c.825+4852_825+4853insTGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGACGCCCCTCACCTCCCGGACGGGG TGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGG	HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	6/7			chr3	TogoVar
HSPBAP1_chr3_122734999_122798831	122747738	G G	GCCCCGTC others(169): Show GCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCAC CCCGTCCGGGAGGTGAGGGGCGTCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG03098.hp2 HG02280.hp2 HG02572.hp1 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0158 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0158	3	350	0.0086	176	c.825 others(193): Show c.825+4852_825+4853insTGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGACGCCCCTCACCTCCCGGACGGGG TGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGG	HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	6/7			chr3	TogoVar
HSPBAP1_chr3_122734999_122798831	122747738	G G	GCCCCGTC others(169): Show GCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCAC CCCGTCCGGGAGGTGAGGGGCGTCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0188 a0002c0002t0003g0188	1	350	0.0029	176	c.825 others(193): Show c.825+4852_825+4853insTGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGACGCCCCTCACCTCCCGGACGGGG TGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACGGGG	HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	6/7			chr3	TogoVar
HSPBAP1_chr3_122734999_122798831	122747769	C C	CCCCCCGC others(169): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGTCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCC GTCCAGGAGGGAGGTGGGGGGATCAGG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0163 a0002c0002t0003g0163	1	350	0.0029	176	c.825 others(193): Show c.825+4821_825+4822insCCTGATCCCCCCACCTCCCTCCTGGACG GGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGACGCCCCTCACCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG	HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	6/7			chr3	TogoVar
IFNAR1_chr21_33319970_33364864	33322586	T T	TATGGTAT others(169): Show TATGGTATATATATATGGAATATATATATATGGTATATATATATGGAATA TATATATATGGAATATATATATATGGTATATATATATGGAATATATATAT ATGGAATACAAATATACGGAATATATATATGGAATACATATATACGGAAT ATATATATACGGAATACATATATACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	323	0.0031	176	c.-24 others(187): Show c.-2470_-2469insATGGTATATATATATGGAATATATATATATGGTA TATATATATGGAATATATATATATGGAATATATATATATGGTATATATAT ATGGAATATATATATATGGAATACAAATATACGGAATATATATATGGAAT ACATATATACGGAATATATATATACGGAATACATATATACGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2383		chr21	TogoVar
IFT140_chr16_1505427_1617072	1599421	G G	GGGGGGGT others(169): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCG GCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCG GCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	334	0.0030	176	c.369 others(193): Show c.369+2948_369+2949insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
INPP5A_chr10_132532787_132788480	132775042	G G	GACGGAGG others(169): Show GACGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAG GGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGGGGCAGGGAGGAGAG AGGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	204	0.0049	176	c.978 others(193): Show c.978-2629_978-2628insACGGAGGAGAGAGGGGCAGGGGGGAGGG GCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGGGGCAGGGAGGAGAGAGGGGCAGAGAGGAGGGGCAGGGAGAGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15			chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775115	G G	GGGCAGGG others(169): Show GGGCAGGGAGGAGAGATGGGCAGAGAGGACGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGGGGGGGCAGGGAG GAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGACA	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19011.hp2 HG02523.hp1 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0083 a0002c0002t0001g0084	2	204	0.0098	176	c.978 others(193): Show c.978-2544_978-2543insAGATGGGCAGAGAGGACGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGGGGG GGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGG AGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITPR2_chr12_26330352_26838194	26785266	T T	TCTGCCCG others(169): Show TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGGGGAGGGGGGGTCAGCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp2 others(29): Show HG00140.hp2 HG00323.hp2 HG00639.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01981.hp1 HG02040.hp1 HG02559.hp2 HG02735.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03130.hp1 HG03239.hp2 HG03492.hp1 NA18747.hp1 NA18956.hp2 NA18980.hp2 NA19056.hp1 NA20752.hp1 NA20752.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0009 a0010	a0001c0001 a0001c0002 a0001c0013 others(21): Show a0001c0001 a0001c0002 a0001c0013 a0001c0021 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0029 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0064 a0001c0065 a0003c0038 a0004c0014 a0009c0063 a0010c0066	a0001c0001t0002 a0001c0001t0003 a0001c0002t0008 others(27): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0008 a0001c0013t0002 a0001c0013t0022 a0001c0021t0002 a0001c0024t0021 a0001c0025t0024 a0001c0025t0051 a0001c0026t0020 a0001c0026t0053 a0001c0027t0055 a0001c0027t0056 a0001c0029t0011 a0001c0029t0049 a0001c0054t0023 a0001c0055t0008 a0001c0056t0001 a0001c0057t0002 a0001c0058t0050 a0001c0059t0002 a0001c0060t0002 a0001c0061t0045 a0001c0062t0020 a0001c0064t0008 a0001c0065t0024 a0003c0038t0009 a0004c0014t0013 a0009c0063t0001 a0010c0066t0001	a0001c0001t0002g0095 a0001c0001t0003g0096 a0001c0002t0008g0100 others(29): Show a0001c0001t0002g0095 a0001c0001t0003g0096 a0001c0002t0008g0100 a0001c0013t0002g0020 a0001c0013t0022g0120 a0001c0013t0022g0129 a0001c0021t0002g0043 a0001c0024t0021g0122 a0001c0025t0024g0139 a0001c0025t0051g0133 a0001c0026t0020g0113 a0001c0026t0053g0142 a0001c0027t0055g0137 a0001c0027t0056g0138 a0001c0029t0011g0130 a0001c0029t0049g0121 a0001c0054t0023g0136 a0001c0055t0008g0059 a0001c0056t0001g0017 a0001c0057t0002g0054 a0001c0058t0050g0116 a0001c0059t0002g0090 a0001c0060t0002g0069 a0001c0061t0045g0114 a0001c0062t0020g0126 a0001c0064t0008g0024 a0001c0065t0024g0141 a0003c0038t0009g0012 a0004c0014t0013g0078 a0004c0014t0013g0094 a0009c0063t0001g0087 a0010c0066t0001g0055	32	142	0.2254	176	c.163 others(193): Show c.163+4890_163+4891insGGGGCTGACCCCCCCTCCCCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
KCMF1_chr2_84966161_85064472	85008354	A A	ATCATATA others(169): Show ATCATATATAATATATGATATATAATATATATCATATATAATATATGATA TATAATATATATCATATATAATATATAATATGATATATAATATATATCAT ATATAATATATAATATGATATATAATATATATCATATATAATATATATCA TATATAATATGACATATATTATATATG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0007 a0001c0001t0030g0007	1	274	0.0037	176	c.17- others(193): Show c.17-19535_17-19534insTCATATATAATATATGATATATAATATA TATCATATATAATATATGATATATAATATATATCATATATAATATATAAT ATGATATATAATATATATCATATATAATATATAATATGATATATAATATA TATCATATATAATATATATCATATATAATATGACATATATTATATATG	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6			chr2	TogoVar
KCNH1_chr1_210673314_211139148	210718386	T T	TTAATGCA others(169): Show TTAATGCATAAATATATGCATATATTTAATACATAAATATATGCATATAT TTATGTATTAATATATGCATATATTTAATACATAAATATATGCATATATT TAATACATAAATATATGCATATATTTAATACATAAATATATGCATATATT TAATACATAAATATATGCATATATGTA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0164 a0001c0001t0036g0164	1	164	0.0061	176	c.211 others(197): Show c.2113-34249_2113-34248insTACATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTAATACA TAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGCAT TA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210718386	T T	TTATGCAT others(169): Show TTATGCATAAATATATGCATATATTTAATACATAAATATATGCATATATT TAATGCATAAATATATGCATATATTTAATACATAAATATATGCATATATT TAATACATAAATATATGCATATATTTATATATAAAATATATGCATATATT TATATATAAAATATATGCATATATGTA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	164	0.0061	176	c.211 others(197): Show c.2113-34249_2113-34248insTACATATATGCATATATTTTATAT ATAAATATATGCATATATTTTATATATAAATATATGCATATATTTATGTA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGCA TTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGCA TA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH7_chr2_162366407_162843767	162752903	A A	AAAAAAGA others(169): Show AAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0012 a0001c0007t0001g0012	1	100	0.0100	176	c.307 others(195): Show c.307+83633_307+83634insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTT	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNIP4_chr4_20723606_21953772	21920860	C C	CACTGTAC others(169): Show CACTGTACATTTTCTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0062 a0001c0002t0005g0062	1	80	0.0125	176	c.61+ others(193): Show c.61+27710_61+27711insCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAGAAAATGTACAGT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KDM4C_chr9_6752973_7180648	6807991	G G	GGGGGGTC others(169): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTGG GGGGGGTCAGCTCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCATCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0198 a0002c0008t0001g0198	1	266	0.0038	176	c.320 others(193): Show c.320+2222_320+2223insTCAGCCCCCCGCCCGGCCAGCCGCCCCT TCCGGGAGGGAGGTGGGGGGGGTCAGCTCCCCTGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	6808086	T T	TGCCCGGC others(169): Show TGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp2 HG02258.hp2 others(10): Show HG01099.hp1 HG01884.hp2 HG02258.hp2 HG02280.hp2 HG02717.hp1 HG02896.hp1 HG02976.hp2 HG03098.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp2 NA18522.hp1 NA19043.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0014	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0003c0007 a0006c0009 a0006c0047 a0014c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0003c0004t0001 a0003c0007t0001 a0006c0009t0001 a0006c0047t0001 a0014c0014t0001	a0001c0001t0001g0158 a0001c0001t0002g0142 a0001c0001t0002g0150 others(10): Show a0001c0001t0001g0158 a0001c0001t0002g0142 a0001c0001t0002g0150 a0001c0001t0002g0161 a0001c0002t0001g0160 a0001c0002t0002g0140 a0002c0003t0001g0139 a0003c0004t0001g0138 a0003c0007t0001g0141 a0006c0009t0001g0152 a0006c0009t0001g0157 a0006c0047t0001g0163 a0014c0014t0001g0162	13	266	0.0489	176	c.320 others(193): Show c.320+2329_320+2330insATCCGGGAGGGAGGTGGGGGGTCAGCCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCC	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	6808086	T T	TGCCCGGC others(169): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCAAC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG02647.hp1 HG03098.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0011 a0001c0002 a0005c0011	a0001c0002t0002 a0005c0011t0001 a0001c0002t0002 a0005c0011t0001	a0001c0002t0002g0197 a0005c0011t0001g0201 a0001c0002t0002g0197 a0005c0011t0001g0201	2	266	0.0075	176	c.320 others(193): Show c.320+2339_320+2340insGAGGTGGGGGGTCAGCCCCAACGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	6808086	T T	TGCCCGGC others(169): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp2 others(82): Show HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00735.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02300.hp1 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02735.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18967.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA19011.hp2 NA19054.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0017 a0020 a0021 a0025 a0029 a0032 a0034 a0035	a0001c0001 a0001c0002 a0002c0003 others(34): Show a0001c0001 a0001c0002 a0002c0003 a0002c0008 a0002c0023 a0002c0046 a0003c0004 a0003c0007 a0003c0059 a0004c0005 a0004c0006 a0005c0011 a0005c0012 a0005c0018 a0005c0037 a0006c0009 a0007c0017 a0007c0020 a0007c0038 a0008c0019 a0008c0042 a0009c0010 a0010c0015 a0010c0058 a0011c0016 a0011c0036 a0012c0013 a0013c0025 a0014c0014 a0017c0026 a0020c0066 a0021c0057 a0025c0040 a0029c0043 a0032c0048 a0034c0049 a0035c0052	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0014 a0002c0008t0001 a0002c0023t0002 a0002c0046t0001 a0003c0004t0001 a0003c0007t0001 a0003c0059t0001 a0004c0005t0001 a0004c0005t0002 a0004c0006t0001 a0004c0006t0002 a0005c0011t0002 a0005c0012t0001 a0005c0018t0001 a0005c0037t0001 a0006c0009t0003 a0007c0017t0001 a0007c0017t0002 a0007c0020t0001 a0007c0038t0002 a0008c0019t0005 a0008c0042t0001 a0009c0010t0002 a0009c0010t0012 a0010c0015t0002 a0010c0058t0002 a0011c0016t0003 a0011c0016t0005 a0011c0036t0001 a0012c0013t0003 a0012c0013t0009 a0013c0025t0001 a0014c0014t0001 a0017c0026t0002 a0020c0066t0001 a0021c0057t0001 a0025c0040t0001 a0029c0043t0002 a0032c0048t0002 a0034c0049t0002 a0035c0052t0002	a0001c0001t0001g0021 a0001c0001t0001g0168 a0001c0001t0001g0176 others(82): Show a0001c0001t0001g0021 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0235 a0001c0001t0002g0111 a0001c0001t0002g0170 a0001c0001t0002g0238 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0014 a0001c0002t0002g0131 a0001c0002t0002g0217 a0001c0002t0002g0237 a0001c0002t0006g0252 a0001c0002t0008g0124 a0002c0003t0001g0220 a0002c0003t0001g0234 a0002c0003t0001g0242 a0002c0003t0002g0017 a0002c0003t0002g0060 a0002c0003t0002g0136 a0002c0003t0002g0167 a0002c0003t0002g0187 a0002c0003t0002g0212 a0002c0003t0002g0223 a0002c0003t0002g0228 a0002c0003t0003g0251 a0002c0003t0014g0180 a0002c0008t0001g0178 a0002c0008t0001g0194 a0002c0023t0002g0007 a0002c0023t0002g0132 a0002c0046t0001g0133 a0003c0004t0001g0192 a0003c0004t0001g0232 a0003c0004t0001g0248 a0003c0007t0001g0013 a0003c0007t0001g0193 a0003c0007t0001g0236 a0003c0059t0001g0134 a0004c0005t0001g0165 a0004c0005t0001g0177 a0004c0005t0002g0010 a0004c0005t0002g0229 a0004c0006t0001g0175 a0004c0006t0001g0233 a0004c0006t0002g0004 a0004c0006t0002g0240 a0005c0011t0002g0113 a0005c0011t0002g0135 a0005c0012t0001g0179 a0005c0012t0001g0224 a0005c0018t0001g0114 a0005c0018t0001g0116 a0005c0037t0001g0051 a0006c0009t0003g0254 a0007c0017t0001g0006 a0007c0017t0002g0231 a0007c0020t0001g0173 a0007c0038t0002g0031 a0008c0019t0005g0112 a0008c0042t0001g0115 a0009c0010t0002g0215 a0009c0010t0002g0216 a0009c0010t0002g0227 a0009c0010t0002g0245 a0009c0010t0012g0226 a0010c0015t0002g0129 a0010c0058t0002g0127 a0011c0016t0003g0253 a0011c0016t0005g0174 a0011c0036t0001g0171 a0012c0013t0003g0255 a0012c0013t0009g0189 a0013c0025t0001g0239 a0014c0014t0001g0128 a0017c0026t0002g0070 a0020c0066t0001g0169 a0021c0057t0001g0213 a0025c0040t0001g0172 a0029c0043t0002g0181 a0032c0048t0002g0166 a0034c0049t0002g0005 a0035c0052t0002g0244	85	266	0.3196	176	c.320 others(193): Show c.320+2339_320+2340insGAGGTGGGGGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	6808086	T T	TGCCCGGC others(169): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCC TCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0001 a0016c0021t0001	a0016c0021t0001g0209 a0016c0021t0001g0209	1	266	0.0038	176	c.320 others(193): Show c.320+2339_320+2340insGAGGTGGGGGGTCAGCCCCCCCTCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4C_chr9_6752973_7180648	6808086	T T	TGCCCGGC others(169): Show TGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGTCAGCCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03139.hp2 HG02717.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0002g0137 a0003c0004t0001g0247 a0001c0001t0002g0137 a0003c0004t0001g0247	2	266	0.0075	176	c.320 others(193): Show c.320+2332_320+2333insTGGGAGGGAGGTGGGGGGTCAGCCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTC	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM7A_chr7_140079746_140181983	140100679	T T	TACACATA others(169): Show TACACATATATATATATATATATATATGTGTATATATATATATATATATA TATATACACATATATATATATATATATATATATATACACACATATATATA TATATATATATATATATACACATATATATATATATATATATATATACACA TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0008 a0001c0001t0019g0008	2	344	0.0058	176	c.163 others(193): Show c.1639-657_1639-656insGTATATATATATATATATATATATATAT GTGTATATATATATATATATATATATATGTGTATATATATATATATATAT ATATATATGTGTGTATATATATATATATATATATATATATGTGTATATAT ATATATATATATATATATACACATATATATATATATATATATATGTGT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar
KDSR_chr18_63322726_63372206	63361017	A A	ATATATAT others(169): Show ATATATATATAATATATAATATATATAATAAAAATATATATTTTATATAT ATATAATATATATAATAAAAATATATATTTTATATATATATAATATATAA TATATATAATAAAAATATATATTTTATATATATATAATATATAATATATA TAATAAAAATATATATTTTATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA19070.hp1 HG03017.hp2 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0030 a0001c0002t0004 a0001c0002t0030	a0001c0002t0004g0058 a0001c0002t0030g0086 a0001c0002t0004g0058 a0001c0002t0030g0086	2	406	0.0049	176	c.199 others(193): Show c.199-1226_199-1225insATATATATAAAATATATATTTTTATTAT ATATATTATATATTATATATATATAAAATATATATTTTTATTATATATAT TATATATTATATATATATAAAATATATATTTTTATTATATATATTATATA TATATAAAATATATATTTTTATTATATATATTATATATTATATATATA	KDSR	ENSG00000119537.18	transcript	ENST00000645214.2	protein_coding	2/9			chr18	TogoVar
KIAA0753_chr17_6573147_6645711	6593285	T T	TAGCACTT others(169): Show TAGCACTTCGGGAGGCCGGGAGCAGTGGTTCACGCCTGTAATCCCAGCAC TTCGGGAGGCCGGGCGCAATGGCTCACACCTGGAATCCCAGCACTTCGGG AGGCCGGGAGCAGTGGTTCACGCCTGTAATCCCAGCACTTCGGGAGGCCG GGCGCAATGGCTCACACCTGGAATCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01361.hp1 others(16): Show HG00140.hp1 HG00738.hp2 HG01361.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG02723.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03579.hp2 HG03927.hp2 NA19043.hp2 NA19070.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0005 a0002c0002t0015 others(1): Show a0001c0001t0001 a0002c0002t0005 a0002c0002t0015 a0004c0004t0005	a0001c0001t0001g0330 a0002c0002t0005g0134 a0002c0002t0005g0135 others(14): Show a0001c0001t0001g0330 a0002c0002t0005g0134 a0002c0002t0005g0135 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0002t0005g0138 a0002c0002t0005g0139 a0002c0002t0005g0141 a0002c0002t0005g0142 a0002c0002t0005g0143 a0002c0002t0005g0144 a0002c0002t0015g0140 a0004c0004t0005g0009 a0004c0004t0005g0010 a0004c0004t0005g0130 a0004c0004t0005g0145 a0004c0004t0005g0146	19	370	0.0514	176	c.244 others(195): Show c.2440+1511_2440+1686dupGGGATTCCAGGTGTGAGCCATTGCGC CCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAACCACTGCTCCCGGCC TCCCGAAGTGCTGGGATTCCAGGTGTGAGCCATTGCGCCCGGCCTCCCGA AGTGCTGGGATTACAGGCGTGAACCACTGCTCCCGGCCTCCCGAAGTGCT	KIAA0753	ENSG00000198920.11	transcript	ENST00000361413.8	protein_coding	16/18			chr17	TogoVar
KSR2_chr12_117448012_117973990	117606526	T T	TTCCTCCC others(169): Show TTCCTCCCTCCCTCCTCTCCTTCCTTCCTCCATCCCCTCCTTCCTCCCTC CCTCCCCTCCTTCCTCCCTCCCTCCTCTCCTTCCTTCCTCCATCCCCTCC TTCCTTCCTCCCTCCCCTCCTTCCTCCCTCCCTCCCCTCCTTCCTCCCTC CCTCCCCTCCTTCCTCCCTCCCTCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG02809.hp1 others(4): Show HG01243.hp2 HG02622.hp2 HG02809.hp1 HG02818.hp1 HG02965.hp2 HG02976.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 a0001c0001 a0001c0003 a0001c0014	a0001c0001t0026 a0001c0001t0070 a0001c0001t0085 others(4): Show a0001c0001t0026 a0001c0001t0070 a0001c0001t0085 a0001c0001t0097 a0001c0003t0089 a0001c0003t0141 a0001c0014t0072	a0001c0001t0026g0002 a0001c0001t0070g0051 a0001c0001t0085g0061 others(4): Show a0001c0001t0026g0002 a0001c0001t0070g0051 a0001c0001t0085g0061 a0001c0001t0097g0132 a0001c0003t0089g0177 a0001c0003t0141g0181 a0001c0014t0072g0064	7	196	0.0357	176	c.117 others(197): Show c.1172-24168_1172-24167insGAGGAGGGAGGGAGGAAGGAGGGG AGGGAGGGAGGAAGGAGGGGAGGGAGGGAGGAAGGAGGGGAGGGAGGAAG GAAGGAGGGGATGGAGGAAGGAAGGAGAGGAGGGAGGGAGGAAGGAGGGG AGGGAGGGAGGAAGGAGGGGATGGAGGAAGGAAGGAGAGGAGGGAGGGAG GA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
LEPROT_chr1_65415668_65441007	65426143	A A	AGAAATGT others(169): Show AGAAATGTCAAGAAAATCAGCAAGCAGGCCATACAGATCTCTAGGGAAAA AGCACTTTAGGCACCAGGAAAGCTGTATGCTAAGGCCCGGAAATGTCAAG AAAATCAGCAAGCAGGCCATACAGATCTCTAGGGAAAAAGCACTTTAGGC ACCAGGAAAGCTGTATGCTAAGGCCCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG03098.hp1 others(1): Show HG02145.hp1 HG02280.hp2 HG03098.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0038 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0038 a0001c0001t0056	a0001c0001t0001g0072 a0001c0001t0004g0073 a0001c0001t0038g0101 others(1): Show a0001c0001t0001g0072 a0001c0001t0004g0073 a0001c0001t0038g0101 a0001c0001t0056g0061	4	402	0.0100	176	c.92+ others(189): Show c.92+839_92+840insTATGCTAAGGCCCGGAAATGTCAAGAAAATCA GCAAGCAGGCCATACAGATCTCTAGGGAAAAAGCACTTTAGGCACCAGGA AAGCTGTATGCTAAGGCCCGGAAATGTCAAGAAAATCAGCAAGCAGGCCA TACAGATCTCTAGGGAAAAAGCACTTTAGGCACCAGGAAAGCTG	LEPROT	ENSG00000213625.9	transcript	ENST00000371065.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPROT_chr1_65415668_65441007	65426218	A A	AATGCTAA others(169): Show AATGCTAAGGCCCGGAAATGTCAAGAAAATCAGCAAGCAGGCCATACAGA TCTCTAGGGAAAAAGCACTTTAGGCACCAGGAAAGCTGTATGCTAAGGCC CGGAAATGTCAAGAAAATCAGCAAGCAGGCCATACAGATCTCTAGGGAAA AAGCACTTTAGGCACCAGGAAAGCTGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18522.hp1 HG02717.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0058 a0001c0001t0005 a0001c0001t0058	a0001c0001t0005g0136 a0001c0001t0058g0128 a0001c0001t0005g0136 a0001c0001t0058g0128	2	402	0.0050	176	c.92+ others(189): Show c.92+855_92+856insAATGTCAAGAAAATCAGCAAGCAGGCCATACA GATCTCTAGGGAAAAAGCACTTTAGGCACCAGGAAAGCTGTATGCTAAGG CCCGGAAATGTCAAGAAAATCAGCAAGCAGGCCATACAGATCTCTAGGGA AAAAGCACTTTAGGCACCAGGAAAGCTGTATGCTAAGGCCCGGA	LEPROT	ENSG00000213625.9	transcript	ENST00000371065.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65426143	A A	AGAAATGT others(169): Show AGAAATGTCAAGAAAATCAGCAAGCAGGCCATACAGATCTCTAGGGAAAA AGCACTTTAGGCACCAGGAAAGCTGTATGCTAAGGCCCGGAAATGTCAAG AAAATCAGCAAGCAGGCCATACAGATCTCTAGGGAAAAAGCACTTTAGGC ACCAGGAAAGCTGTATGCTAAGGCCCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG03195.hp1 HG02145.hp1 HG02280.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0061 a0002c0002t0001g0060 a0002c0002t0001g0104 a0001c0001t0003g0061 a0002c0002t0001g0060 a0002c0002t0001g0104	3	216	0.0139	176	c.-21 others(191): Show c.-21+839_-21+840insTATGCTAAGGCCCGGAAATGTCAAGAAAAT CAGCAAGCAGGCCATACAGATCTCTAGGGAAAAAGCACTTTAGGCACCAG GAAAGCTGTATGCTAAGGCCCGGAAATGTCAAGAAAATCAGCAAGCAGGC CATACAGATCTCTAGGGAAAAAGCACTTTAGGCACCAGGAAAGCTG	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65426218	A A	AATGCTAA others(169): Show AATGCTAAGGCCCGGAAATGTCAAGAAAATCAGCAAGCAGGCCATACAGA TCTCTAGGGAAAAAGCACTTTAGGCACCAGGAAAGCTGTATGCTAAGGCC CGGAAATGTCAAGAAAATCAGCAAGCAGGCCATACAGATCTCTAGGGAAA AAGCACTTTAGGCACCAGGAAAGCTGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0182 a0005c0007t0002g0182	1	216	0.0046	176	c.-21 others(191): Show c.-21+855_-21+856insAATGTCAAGAAAATCAGCAAGCAGGCCATA CAGATCTCTAGGGAAAAAGCACTTTAGGCACCAGGAAAGCTGTATGCTAA GGCCCGGAAATGTCAAGAAAATCAGCAAGCAGGCCATACAGATCTCTAGG GAAAAAGCACTTTAGGCACCAGGAAAGCTGTATGCTAAGGCCCGGA	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATTTAT others(169): Show ATATTTATATATATTTATATGTATTTATATATATTTATATATATTTATAT ATATATATATAAATATATTTATATATATAAATATAAATATTTATATATAT TTATATATATTTATATATATATTTATGTATATTTATATATATTTATATAT ATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp1 HG02965.hp2 others(3): Show HG00597.hp1 HG01192.hp1 HG02965.hp2 HG03130.hp2 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0100 a0001c0001t0001g0140 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0100 a0001c0001t0001g0140 a0001c0001t0001g0201 a0001c0001t0001g0243 a0001c0001t0001g0249	6	260	0.0231	176	c.125 others(193): Show c.125+9673_125+9674insTTATATATATTTATATGTATTTATATAT ATTTATATATATTTATATATATATATATAAATATATTTATATATATAAAT ATAAATATTTATATATATTTATATATATTTATATATATATTTATGTATAT TTATATATATTTATATATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMCD1_chr3_8496823_8579668	8502322	T T	TATATAAA others(169): Show TATATAAAATATATATAATATATATTATATATAAAATATATAATATATAT TATATAAAATATATATAATATATATTATATATAAAATATATAATATATAT TATATAAAATATATAATATATATTATATAAAATATATAATATATATTATA TATAAAATATATAATATATTATATAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(48): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp2 HG01515.hp1 HG01934.hp2 HG01978.hp2 HG02055.hp2 HG02132.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02896.hp2 HG02965.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03834.hp1 HG06807.hp2 NA18522.hp2 NA18950.hp2 NA18956.hp2 NA18969.hp1 NA18997.hp1 NA19030.hp2 NA19043.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0011 a0001c0001 a0001c0002 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0044 a0001c0001t0047 a0001c0001t0049 a0001c0001t0053 a0001c0002t0001 a0001c0002t0003 a0001c0002t0041 a0010c0011t0001	a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0255 others(46): Show a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0290 a0001c0001t0002g0251 a0001c0001t0002g0270 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0003g0007 a0001c0001t0003g0248 a0001c0001t0003g0252 a0001c0001t0003g0262 a0001c0001t0003g0264 a0001c0001t0003g0267 a0001c0001t0003g0269 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0289 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0012g0246 a0001c0001t0013g0291 a0001c0001t0013g0292 a0001c0001t0029g0285 a0001c0001t0035g0253 a0001c0001t0036g0250 a0001c0001t0039g0266 a0001c0001t0044g0249 a0001c0001t0047g0274 a0001c0001t0049g0279 a0001c0001t0053g0268 a0001c0002t0001g0008 a0001c0002t0003g0273 a0001c0002t0003g0278 a0001c0002t0041g0258 a0010c0011t0001g0256	51	314	0.1624	176	c.42+ others(189): Show c.42+347_42+348insAAATATATATAATATATATTATATATAAAATA TATAATATATATTATATAAAATATATATAATATATATTATATATAAAATA TATAATATATATTATATAAAATATATAATATATATTATATAAAATATATA ATATATATTATATATAAAATATATAATATATTATATAAAATATA	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar

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