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
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(215): Show TATATATATAATATATATTATATATAATATATATTATATATTATATATAA TATATATTATATATAATATATATTATATAAAATATATAATATATAATATA TATTATATATTATATATAATATATATTATATATAATATATATAATATATA TTATATAAAATATATATTATATATAATATATATTATATATAATATATATT ATATATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0199	1	218	0.0046	222	c.314 others(241): Show c.314-50897_314-50896insTATATATAATATATATTATATATAAT ATATATTATATATAATATATATTATATATAATATATATTTTATATAATAT ATATTATATATATTATATATAATATATATTATATATAATATATAATATAT ATTATATATTATATATTTTATATAATATATATTATATATAATATATATTA TATATAATATATAATATATATTATATATAATATATATTATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(215): Show ACCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGTGGGGGGCTGACCCCCCCCACCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGCTAACGCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	436	0.0023	222	c.44 others(233): Show c.4434_*4435insCCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCCACCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTAACGCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C12orf54_chr12_48477498_48501524	48500574	A A	ACCTCCCG others(215): Show ACCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGTGGGGGGCTGACCCCCCCCACCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGCTAACGCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19091.hp1 NA19077.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	436	0.0046	222	c.44 others(233): Show c.4434_*4435insCCTCCCGGACGGGACTGCTGGCCGGGCGGGGAGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCCACCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCTAACGCCCCCACCTC	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4051		chr12	TogoVar
C20orf96_chr20_265863_295750	279045	C C	CGGGACGG others(215): Show CGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGGAGGGAGGGACGGA GGGGCGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGAGGGCGGG ACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAG GGAGGGCGGGAGGGATGGAGGGA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0106 a0001c0005t0001g0106	1	410	0.0024	222	c.465 others(237): Show c.465+126_465+127insTCCCTCCATCCCTCCCGCCCTCCCTCCCTC CCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCC TCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTC CCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCGCCCCTCCGTCC CTCCCTCCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	404839	G G	GAACGGGG others(215): Show GAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGA GGGGTGTGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGG GGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTG TGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCC TGCCCTGAGGGGTGTGGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0089 a0001c0001t0109g0089	1	322	0.0031	222	c.22 others(233): Show c.2256_*2257insTCCCCCCCACACCCCTCAGGGCAGGACCCCATCC CCCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCACACCCCTCAGG GCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCC ACACCCCTCAGGGCAGGACCCCGTCCCCCCCCACACCCCTCAAGGCAGGA CCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTT	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		605		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(215): Show GTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGAT CCTGGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGT CCACCGCCCCTGCTGGGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	322	0.0031	222	c.-17 others(233): Show c.-1799_-1798insTCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCA GGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCA GCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGG ACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGG ATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(215): Show GTCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACTGCCCCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGT CCACCGCCCCTGCTGGGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0123 a0001c0006t0123	a0001c0006t0123g0065 a0001c0006t0123g0065	1	322	0.0031	222	c.-17 others(233): Show c.-1799_-1798insTCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCA GGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCA GCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCAGTGG ACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGG ATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410796	C C	CCGGATCC others(215): Show CCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCC GGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGT CTGTCCACCGCCCCTGCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02273.hp1 HG01934.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	2	322	0.0062	222	c.-18 others(233): Show c.-1832_-1831insTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1650		chr19	TogoVar
C2CD4C_chr19_400445_414147	410823	C C	CCTGCTGG others(215): Show CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCACG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCC TGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGA TCCTGGGGGTCTGTCCACCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0155 a0001c0001t0049g0155	1	322	0.0031	222	c.-18 others(233): Show c.-1859_-1858insAGACGGTGGACAGACCCCCAGGATCCGTGCCCAG CAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGA CAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGTA GGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1677		chr19	TogoVar
C2CD4C_chr19_400445_414147	410842	G G	GGGGATCT others(215): Show GGGGATCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCA CCGCCCCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCTCTGCTGG GCCCGGATCCTTGGGGTCTGTCCACCACCCCTGCTGGGCACGGATCCTGG GGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACC GTCTCTGCTGGGCCCGGATCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0091 a0001c0004t0091	a0001c0004t0091g0052 a0001c0004t0091g0052	1	322	0.0031	222	c.-18 others(233): Show c.-1878_-1877insAAGGATCCGGGCCCAGCAGAGACGGTGGACAGAC CCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGT GCCCAGCAGGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAGCAGAGAC GGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCC CCAGGATCCGGGCCCAGCAGAGACGGTGGACAGATCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1696		chr19	TogoVar
C2CD4C_chr19_400445_414147	410931	G G	GTCTCTGC others(215): Show GTCTCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGC CCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCAC GGATCCTGGGGATCTGTCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0010	1	322	0.0031	222	c.-19 others(233): Show c.-1967_-1966insTGGTGGACAGATCCCCAGGATCCGTGCCCAGCAG AGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGTG ACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGAGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1785		chr19	TogoVar
C2CD4C_chr19_400445_414147	411031	G G	GTCTGTCC others(215): Show GTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGT CTCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGAT CTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCCCGGATCCTGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	222	c.-20 others(233): Show c.-2067_-2066insTCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGAC AGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGAT CCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG TGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1885		chr19	TogoVar
C2CD4C_chr19_400445_414147	411301	G G	GCCCCTAC others(215): Show GCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGC ACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCTGGATCCTGGGG GTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCT GGATCCTTGGGGTCTGTCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0022 a0001c0001t0021g0022	1	322	0.0031	222	c.-23 others(233): Show c.-2337_-2336insTGGTGGACAGACCCCAAGGATCCAGGCCCAGCAG AGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCC AGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGTGCCCAGTAGGGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2155		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(215): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACG GATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCC TGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCTGGA TCCTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0127 a0001c0002t0064g0127	1	322	0.0031	222	c.-23 others(233): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCAGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(215): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGTCACTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCC TGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGA TCCTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0128 a0001c0002t0067g0128	1	322	0.0031	222	c.-23 others(233): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGTGCCCAGCAGTGACGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(215): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGAGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG01169.hp2 others(7): Show HG00639.hp2 HG01167.hp2 HG01169.hp2 HG02145.hp1 HG02257.hp1 HG02486.hp1 HG02630.hp1 HG03225.hp1 HG03486.hp1 NA20129.hp1	a0005 a0013 a0031 a0005 a0013 a0031	a0005c0005 a0013c0017 a0031c0042 a0005c0005 a0013c0017 a0031c0042	a0005c0005t0002 a0013c0017t0001 a0031c0042t0001 a0005c0005t0002 a0013c0017t0001 a0031c0042t0001	a0005c0005t0002g0005 a0005c0005t0002g0007 a0005c0005t0002g0010 others(7): Show a0005c0005t0002g0005 a0005c0005t0002g0007 a0005c0005t0002g0010 a0005c0005t0002g0011 a0005c0005t0002g0012 a0005c0005t0002g0013 a0005c0005t0002g0014 a0005c0005t0002g0018 a0013c0017t0001g0308 a0031c0042t0001g0322	10	326	0.0307	222	c.145 others(239): Show c.145-7382_145-7381insTGGGAGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(215): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGGGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGACCCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0185 a0003c0003t0001g0185	1	326	0.0031	222	c.145 others(239): Show c.145-7382_145-7381insTGGGGGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCC CCCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(215): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGGGGATGACCCCCCCC ACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGG CTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGACCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0189 a0003c0003t0001g0189	1	326	0.0031	222	c.145 others(239): Show c.145-7382_145-7381insTGGGGGGATGACCCCCCCCACCTCCCTC CCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGG CGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACC CCCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C7orf50_chr7_992006_1143247	1031433	G G	GGGCAGAG others(215): Show GGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTG CAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGA GTGGTCCGGGGGACCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCG GCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCA GGGAGGGCAGAGTGGTCCGGGGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0116 a0001c0001t0008g0116	1	326	0.0031	222	c.130 others(241): Show c.130-21291_130-21290insGCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTGCCGCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCGC CCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGGTCCCCCGGACCACTCT GCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGCAG GTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031581	C C	CGGCAGAG others(215): Show CGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTG CAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGA GTGGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCG GCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGACCAGAGACCTGCA GGGAGGGCAGAGTGGTCCGGGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG03471.hp2 HG02145.hp2 HG02258.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0241 a0001c0001t0005g0248 a0001c0001t0008g0132 a0001c0001t0005g0241 a0001c0001t0005g0248 a0001c0001t0008g0132	3	326	0.0092	222	c.130 others(241): Show c.130-21439_130-21438insCCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTGGTCCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCGC CCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACTCT GCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGCAG GTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1059740	G G	GGTCCGTA others(215): Show GGTCCGTAGTGAGGCAGGTCTTAGGTGGGTCCGTAGTGGGGCGAGTCCGT AGTGAGGCAGGTCTTAGTGGGGCGGGTCCGTAATGAGGCGGGTCTTAGGC GGGTCCATAGTGAGGCGGGTCCGTAGTGGGGCGGGTCGGTAGTGAGGTGG GTCTTAGCGGGGCGGGTCTTAGGGGGGCGGGTCCGTAGTGAGGCAGGTCT TAGGTGGGTCCGTAGTGGGGCGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0129 a0001c0001t0007g0135 a0001c0001t0007g0129 a0001c0001t0007g0135	2	326	0.0061	222	c.130 others(241): Show c.130-49598_130-49597insTCGCCCCACTACGGACCCACCTAAGA CCTGCCTCACTACGGACCCGCCCCCCTAAGACCCGCCCCGCTAAGACCCA CCTCACTACCGACCCGCCCCACTACGGACCCGCCTCACTATGGACCCGCC TAAGACCCGCCTCATTACGGACCCGCCCCACTAAGACCTGCCTCACTACG GACTCGCCCCACTACGGACCCACCTAAGACCTGCCTCACTACGGAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1116923	A A	ACGGACCG others(215): Show ACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGACATCACTGCAGC TCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCAC TGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGA CACCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGA TGATGACATCACTGCAGCTCTAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	326	0.0031	222	c.129 others(241): Show c.129+10333_129+10334insGTAGAGCTGCAGTGATGTCATCATCC TGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGGTGTCA TCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTG ATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCT GCAGTGATGTCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1B_chr9_137872782_138129619	138017889	T T	TGAAGTGG others(215): Show TGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGTCAGG TGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCA CCTGCCCTGATGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGG AAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGCAAGTGGCCAGGTG CAGTTAGGCCACCTGCCCTGATG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0006 a0005c0026t0006	a0005c0026t0006g0144 a0005c0026t0006g0144	1	248	0.0040	222	c.226 others(241): Show c.2267+4698_2267+4699insTCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGTC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGTCAGGTGCAGTTAGG CCACCTGCCCTGATGCAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	T T	TCAGGTGC others(215): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0201 a0002c0004t0001g0201	1	248	0.0040	222	c.226 others(241): Show c.2268-3627_2268-3406dupCAGTTAGGCCACCTGCCCTGATGGAA GTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCA GTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTG CCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGT GGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNG6_chr19_53986637_54017666	53990789	G G	GCCCCCAG others(215): Show GCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC CCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCACCTCCT CCCTCAGACCCAGGAGTCCAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0263 a0001c0001t0020g0263	1	430	0.0023	222	c.-20 others(233): Show c.-2089_-2088insCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA CCCCCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGAC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		847		chr19	TogoVar
CACNG6_chr19_53986637_54017666	53990789	G G	GCCCCCAG others(215): Show GCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCT CCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC CCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCACCTCCT CCCTCAGACCCAGGAGTCCAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG02109.hp1 others(9): Show HG01255.hp2 HG01884.hp2 HG02109.hp1 HG02451.hp2 HG02647.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03516.hp1 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 others(3): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0024 a0001c0002t0003	a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 others(9): Show a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0012g0237 a0001c0001t0012g0238 a0001c0001t0013g0074 a0001c0001t0013g0075 a0001c0001t0013g0076 a0001c0001t0013g0077 a0001c0001t0015g0072 a0001c0001t0024g0073 a0001c0002t0003g0241	12	430	0.0279	222	c.-20 others(233): Show c.-2089_-2088insCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCC AGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCC CTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA CCCCCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGAC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		847		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990789	G G	GCCCCCAG others(215): Show GCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC CCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCACCTCCT CCCTCAGACCCAGGAGTCCAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0059 a0001c0001t0121g0059	1	394	0.0025	222	c.79 others(233): Show c.7940_*7941insCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA CCCCCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGAC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		575		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990789	G G	GCCCCCAG others(215): Show GCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCT CCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC CCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCACCTCCT CCCTCAGACCCAGGAGTCCAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG02109.hp2 others(9): Show HG01255.hp2 HG01884.hp2 HG02109.hp2 HG02451.hp2 HG02647.hp1 HG02717.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03516.hp1 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0039 a0001c0001t0040 others(3): Show a0001c0001t0013 a0001c0001t0039 a0001c0001t0040 a0001c0001t0089 a0001c0001t0092 a0001c0001t0106	a0001c0001t0013g0025 a0001c0001t0013g0167 a0001c0001t0013g0168 others(7): Show a0001c0001t0013g0025 a0001c0001t0013g0167 a0001c0001t0013g0168 a0001c0001t0013g0169 a0001c0001t0039g0024 a0001c0001t0040g0070 a0001c0001t0040g0145 a0001c0001t0089g0069 a0001c0001t0092g0146 a0001c0001t0106g0171	12	394	0.0305	222	c.79 others(233): Show c.7940_*7941insCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCC AGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCC CTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGA CCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA CCCCCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGAC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		575		chr19	TogoVar
CAMK2B_chr7_44212154_44330594	44227746	G G	GAGGGGAA others(215): Show GAGGGGAAGTGGAAGACAGAGGGGGTGTGGGGGACAGAAGGCGGTGTGGG GAACAGAGGGGGAGGTGGGGGACAGAGGAGAGTATGGGGGACAGAAGGGG GTGTGGAAGACAGGAGGTGTGGGGGACAGACGGAGTGTGGGGGACAGAGG AGGGTCTGGGGGACAGAGGGAGAGTCTGGGGGACAGAGGGGGTGTGGGGG ACAGAGGAGGGTGTGGGGGACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0075 a0001c0004t0003g0075	1	242	0.0041	222	c.146 others(241): Show c.1468+1049_1468+1050insGTGTCCCCCACACCCTCCTCTGTCCC CCACACCCCCTCTGTCCCCCAGACTCTCCCTCTGTCCCCCAGACCCTCCT CTGTCCCCCACACTCCGTCTGTCCCCCACACCTCCTGTCTTCCACACCCC CTTCTGTCCCCCATACTCTCCTCTGTCCCCCACCTCCCCCTCTGTTCCCC ACACCGCCTTCTGTCCCCCACACCCCCTCTGTCTTCCACTTCCCCT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CANT1_chr17_78986716_79014764	79004510	A A	AGAGGAGT others(215): Show AGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAAGGGAG TTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAGGGA GAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGT TAGGGAGGGGAGTTAGGGAGAAGGGAGTTAGGGAGGGGAGTTAGGGAGAG GAGTTAAGGAGAGGGGAGTTAGG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0250 a0001c0001t0004g0250	1	394	0.0025	222	c.-14 others(241): Show c.-147+5153_-147+5154insCCTAACTCCCCTCTCCTTAACTCCTC TCCCTAACTCCCCTCCCTAACTCCCTTCTCCCTAACTCCCCTCCCTAACT CCCCTCTCCCTAACTCCCCTCCCTAACTCCCCTCTCCTTAACTCCTCTCC CTAACTCCCCCCTCCCTAACTCCCCTCTCCCTAACTCCCCTCCCTAACTC CCTTCTCCCTAACTCCCCTCCCTAACTCCCCTCTCCTTAACTCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(215): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG04115.hp2 HG00408.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0167 a0001c0001t0015g0158 a0001c0001t0001g0167 a0001c0001t0015g0158	2	410	0.0049	222	c.-22 others(239): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(215): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGAGGGAGAGGGA GAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0247 a0003c0005t0001g0247	1	364	0.0028	222	c.234 others(239): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCT CTCCCTCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(215): Show AAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAA GAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19091.hp1 NA18952.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0083 a0001c0001t0002g0084	2	364	0.0055	222	c.234 others(239): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(215): Show AAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG AGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAA GAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	364	0.0028	222	c.234 others(239): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761467	A A	AAGGGGAA others(215): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG AGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAA GAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19000.hp2 NA18995.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0073 a0001c0001t0002g0074	2	364	0.0055	222	c.234 others(239): Show c.234+6840_234+6841insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGGGGAA others(215): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGA GAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	364	0.0028	222	c.234 others(239): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGGGGAA others(215): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAG AAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	364	0.0028	222	c.234 others(239): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGGGGAA others(215): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAG AAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	364	0.0028	222	c.234 others(239): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AAGGGGAA others(215): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAG AAGGAGAAGGAGAAGGAGAGGAAGAAGGAGAAGAAGAAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	364	0.0028	222	c.234 others(239): Show c.234+6831_234+6832insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTCCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AAGGGGAA others(215): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAG AGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0323 a0002c0003t0001g0323	1	364	0.0028	222	c.234 others(239): Show c.234+6831_234+6832insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCT TCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621158	A A	ATATATAT others(215): Show ATATATATTATATATAGATATATTTATATAAATATATCTATATATTATAT ATAGATATATTTATATAAATATATCTATATATTATATATAGATATATTTA TATAAATATATCTATATATTATATATAGATATATTTATATAAATATATCT ATATATTATATATAGATATATTTATATAAATATATCTATATATTATATAT AGATATATTTATATAAATATATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp1 HG01109.hp1 HG01261.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0098 a0002c0004t0001g0041 a0001c0001t0002g0098 a0002c0004t0001g0041	2	206	0.0097	222	c.264 others(241): Show c.2648+3501_2648+3502insAATATATCTATATATTATATATAGAT ATATTTATATAAATATATCTATATATTATATATAGATATATTTATATAAA TATATCTATATATTATATATAGATATATTTATATAAATATATCTATATAT TATATATAGATATATTTATATAAATATATCTATATATTATATATAGATAT ATTTATATAAATATATCTATATATTATATATAGATATATTTATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CBLB_chr3_105650461_105874012	105663074	C C	CTGAGACC others(215): Show CTGAGACCTTCACTATCACAGTTACTGCTGTTACTACCTGAGACCTTCAC CATGACAGTTACTGCTGTTACTACTTGAGACCTTCACTATCACAGTTACT GCCGTTACTACTTGAGACCTTCACTATCACAGTTACTGCTGTTACTACCT GAGACCTTCACCATGACAGTTACTGCTGTTACTACTTGAGACCTTCACTA TCACAGTTACTGCCGTTACTACT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18981.hp2 NA18982.hp1 others(1): Show NA18979.hp1 NA18981.hp2 NA18982.hp1 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0290 a0001c0002t0008g0291 a0001c0002t0008g0292 others(1): Show a0001c0002t0008g0290 a0001c0002t0008g0291 a0001c0002t0008g0292 a0001c0002t0008g0298	4	380	0.0105	222	c.269 others(241): Show c.2690-3846_2690-3845insAGTAGTAACGGCAGTAACTGTGATAG TGAAGGTCTCAAGTAGTAACAGCAGTAACTGTCATGGTGAAGGTCTCAGG TAGTAACAGCAGTAACTGTGATAGTGAAGGTCTCAAGTAGTAACGGCAGT AACTGTGATAGTGAAGGTCTCAAGTAGTAACAGCAGTAACTGTCATGGTG AAGGTCTCAGGTAGTAACAGCAGTAACTGTGATAGTGAAGGTCTCA	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18			chr3	TogoVar
CCDC6_chr10_59783747_59911556	59882071	G G	GGGGAGAA others(215): Show GGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGG AAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0143 a0001c0001t0006g0143	1	288	0.0035	222	c.303 others(241): Show c.303+24050_303+24051insTGGCTTTCCTTTCCTTCTCCCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCT TCTCCCCCTGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC77_chr12_396644_447642	421380	A A	AAATACAC others(215): Show AAATACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCC ATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT AAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0259 a0002c0002t0001g0259	1	432	0.0023	222	c.413 others(239): Show c.413+2746_413+2747insTACACACATAGCAGCACCCTCCATGTTC CATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATAC ACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421457	C C	CACACATA others(215): Show CACACATAGCAGCACCCTCCATGTTCCATTACAGTGCGCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATACTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACA CACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	432	0.0023	222	c.413 others(239): Show c.413+2857_413+2858insGCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAACACACATAGCAGCACCCTCCATACTCCATTACAGTGCACTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCC TCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAG GGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421457	C C	CACACATA others(215): Show CACACATAGCAGCACCCTCCATGTTCCATTACAGTGCGCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATACTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACA CACATAGCAGCACCCTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02602.hp1 HG03710.hp1 others(2): Show HG01175.hp1 HG02602.hp1 HG03710.hp1 NA18952.hp2 NA19000.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0274 others(2): Show a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0274 a0003c0003t0001g0073 a0003c0003t0002g0229	5	432	0.0116	222	c.413 others(239): Show c.413+2857_413+2858insGCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAACACACATAGCAGCACCCTCCATACTCCATTACAGTGCACTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCC TCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAG GGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421620	A A	ACTCCATG others(215): Show ACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTT CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACAC TCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAG GGTAAAACACACATAGCAGCACC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02109.hp2 HG02559.hp2 HG01192.hp1 HG02109.hp2 HG02559.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0147 a0002c0002t0001g0326 a0004c0004t0001g0093 a0001c0001t0001g0147 a0002c0002t0001g0326 a0004c0004t0001g0093	3	432	0.0069	222	c.413 others(239): Show c.413+2991_413+2992insTTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATAC ACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421991	C C	CCTCCATG others(215): Show CCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACT CCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAATACACACATAGCAGCACA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0403 a0002c0002t0001g0403	1	432	0.0023	222	c.413 others(239): Show c.413+3363_413+3584dupTTCCATTACAGTGCTCTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA CATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(215): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATAT ATACATATATACGTATGTATGTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0251 a0001c0001t0005g0251	1	316	0.0032	222	c.273 others(239): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATATATGTATATATACACATACATA CGTATATATGTATATATACACATACATACGTATATATGTATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCNF_chr16_2424447_2463854	2442398	T T	TTATAATA others(215): Show TTATAATATATAATATTATATAATATAATATTATTATATATAATATATAA TATTATATAATATAATATTATTATATATAATATATAATATTATATAATAT AATATTATTATATATAATATATAATATTATATAATATAATATTATTATAT ATAATATATAATATTATATAATATAATATTATTATATATAATATATAATA TTATATAATATAATATTATTATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	276	0.0036	222	c.778 others(239): Show c.778-1033_778-1032insTATATATAATATATAATATTATATAATA TAATATTATTATATATAATATATAATATTATATAATATAATATTATTATA TATAATATATAATATTATATAATATAATATTATTATATATAATATATAAT ATTATATAATATAATATTATTATATATAATATATAATATTATATAATATA ATATTATTATATATAATATATAATATTATATAATATAATATTAT	CCNF	ENSG00000162063.13	transcript	ENST00000397066.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr16	TogoVar

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