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
PAK2_chr3_196734857_196837647	196811344	C C	CCCTTCCC others(775): Show CCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTCC CTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTT CCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCT CCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCCTCCCTTCCT TCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCC CTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCCTCCCTTCCTT CCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCC TTCCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCT TCCTTCCTTCCCTTCCCTCCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTC CTTCCCTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCTCCCTTC CCTTCCTTCCCTTCCTTCCTTCCTTCCCTTCCTTCCCTTCCTTCCTTCCC TTCCTTCCCTCCCTTCCCTTCCTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0172 a0001c0001t0023g0172	1	37	0.0270	782	c.773 others(797): Show c.773+697_773+698insCTCCCTTCCTTCCTCCCTTCCTTCCCTTCC TTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTT CCTTCCTTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCT TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCCTT CCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCT TCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTT CCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCT CCCTTCCTTCCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCTTCCTTCC CTTCCCTCCCTTCCTTCCCTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTC CTTCCCTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTTCCTTCCC TTCCTTCCTTCCCTTCCTTCCCTCCCTTCCCTTCCTTCCCTTCCTTCCTT CC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PERM1_chr1_970198_987093	977065	C C	CAACCCCG others(775): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGA ACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCAC CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03490.hp1 HG01074.hp2 HG03490.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0126 a0006c0008t0001g0073 a0001c0001t0001g0126 a0006c0008t0001g0073	2	170	0.0118	782	c.215 others(799): Show c.2150-442_2150-441insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGG AGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTG GGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGG GGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PHRF1_chr11_571470_617222	585208	T T	TGCCCTTT others(775): Show TGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTG AGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	267	0.0037	782	c.215 others(799): Show c.215-1865_215-1864insTCTTTCCAGCTTGAGGTAGTAGCTCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATG AGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGC ATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585221	T T	TTGAGGTA others(775): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTTCAGCTTGAGGTA GTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCT TTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAACTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCTCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0002 a0013c0021t0002	a0013c0021t0002g0250 a0013c0021t0002g0250	1	277	0.0036	782	c.215 others(799): Show c.215-1957_215-1956insTCTTTTCAGCTTGAGGTAGTAGCTCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCATG AGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAACTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(775): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTG TGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGA GTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGG GGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACT GAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGC GGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCA CTGAGTCTGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGG GGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCA CTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGAGGG GGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATG CACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGA GGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	34	0.0294	782	c.299 others(797): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACT CAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACGCC CCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCAGACT CAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACAC CCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGA CTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCAC ACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCA GACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCC ACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCC CAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCC CCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCC CCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCAT CCCCATGCCCCGCCCTCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCC TC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(775): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCA CTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCACCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC ATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAG GGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCCG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGG GCGGGAGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCAACTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC ACACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0003 a0001c0011t0001g0003	1	4	0.2500	782	c.328 others(801): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGC GCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCACC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTT CCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCA GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGG CTGGCCGGGCGGGAGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCAA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCACACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTG ACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(775): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCA CTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC ATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAG GGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG CGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC ACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	4	0.2500	782	c.328 others(801): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGC GCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTT CCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCA GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGC TGGCCGGGCGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTG ACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(775): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCA CTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC ATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAG GGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGC GGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCA CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	4	0.2500	782	c.328 others(801): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGC GCCCCTCACTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTT CCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCA GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCT GGCCGGGCGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGAC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTG ACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(775): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCA CTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTA GGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG CGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC ACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	4	0.2500	782	c.328 others(801): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGC GCCCCTCACTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACT TCCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGC AGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGC TGGCCGGGCGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTG ACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(775): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTC ACTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCCCACC TCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGT AGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGG GCGGGAGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC ACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	4	0.2500	782	c.328 others(801): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGG CGCCCCTCACTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCAC TTCCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGG CAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGG CTGGCCGGGCGGGAGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTG ACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEKHN1_chr1_961482_980865	977065	C C	CAACCCCG others(775): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGA ACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCAC CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG03490.hp2 HG02300.hp1 HG03490.hp2	a0001 a0003 a0001 a0003	a0001c0032 a0003c0003 a0001c0032 a0003c0003	a0001c0032t0001 a0003c0003t0001 a0001c0032t0001 a0003c0003t0001	a0001c0032t0001g0001 a0003c0003t0001g0011 a0001c0032t0001g0001 a0003c0003t0001g0011	2	186	0.0108	782	c.24 others(793): Show c.2490_*2491insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACC GCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1201		chr1	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGCATGAC others(775): Show AGCATGACTTGGGATGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGCATGACTTGGGATGCTGGGGGGCAGGGGGCCT GTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGT CATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTC ACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0202 a0002c0004t0004g0202	1	210	0.0048	782	c.227 others(799): Show c.227+3604_227+3605insCATGACTTGGGATGCTGGGGGGCAGGGG GCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGA TGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCT GAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRKCZ_chr1_2045411_2190395	2122093	G G	GGTAGTTA others(775): Show GGTAGTTATTTAGGGTCATGGTGGTGGTTAGGGTCATGGCGGTGGTTAGG GTCACGGCTGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTGGT TAGCGTCATGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCTG TAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCGTG GTGGTAGTTAGGGTCACAGTGGTGGTTAGGGTCTCGGCGGTGGTTAGGGT CACCGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTA GGGTCACGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTAGCGTCATGGGTGGTAGTTAGGGTCACGG TGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTC ACGGTGGTAGTTAGGGTCATGGCGGTAGTTAGCGTCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGCGTCATGGTGGTGG TTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGGAGTTAGGGTCACGGCT ATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCAT GGTGGTAGTTAGGGTCATGGTGGGAGTTAGGGTCACGGTGGTAGTTAGGG TCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTT AGGGTCACGGCTATAGTTGGGGTCATGGTGGTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	215	0.0047	782	c.335 others(801): Show c.335-13167_335-13166insAGTTATTTAGGGTCATGGTGGTGGTT AGGGTCATGGCGGTGGTTAGGGTCACGGCTGTAGTTAGGGTCACGGCTGT AGTTAGGGTCACGGTGGTGGTTAGCGTCATGGTGGTGGTTAGGGTCACGG CGGTGGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTGGTTAGGGTC ACGGCGGTGGTTAGGGTCGTGGTGGTAGTTAGGGTCACAGTGGTGGTTAG GGTCTCGGCGGTGGTTAGGGTCACCGCGGTGGTTAGGGTCACGGTGGTGG TTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCGTCAT GGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGG GTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCATGGCGGTAGT TAGCGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGTAGTTAGGGTCATG GTGGGAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACAGCGATAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGTGGGAGTTA GGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGCGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RBBP8_chr18_22928328_23031486	23022651	T T	TAAAATAA others(775): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0292 a0001c0002t0002g0292	1	209	0.0048	782	c.259 others(799): Show c.2596+382_2596+383insAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAAT AAAA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
ROBO2_chr3_77035099_77654964	77322918	A A	ATATATTA others(775): Show ATATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATAATATATTATATTATGGAT AATATAATATATTATATTATATTATGGATAATCTAATATATTATATTATA TTATGGATAATCTAATATATTATATTATATTATGGATAATATAATATATT ATATTATGGATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATAGTATATTA TGGATAATATAATATATTATATTATGGATAATATAATATATTATATAATA TATTATATTATGGATAATATAATATATTATATAATATATTATATTATGGA TAATATAATATATTATATAATATATTATATTATGGATAATATAATATATT ATATAATATATTATATTATGGATAATATAATATATTATATATTATATTAT ATTATGGATAATATAATATATTATATATTATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18522.hp2 NA19030.hp1 HG03139.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0002 a0001c0001t0015g0012 a0001c0001t0015g0013 a0001c0001t0002g0002 a0001c0001t0015g0012 a0001c0001t0015g0013	3	135	0.0222	782	c.389 others(803): Show c.389-154415_389-154414insATATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATCTAATATATTATATTATATTATGG ATAATCTAATATATTATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAGTATATTATGGATA ATATAATATATTATATTATGGATAATATAATATATTATATAATATATTAT ATTATGGATAATATAATATATTATATAATATATTATATTATGGATAATAT AATATATTATATAATATATTATATTATGGATAATATAATATATTATATAA TATATTATATTATGGATAATATAATATATTATATATTATATTATATTATG GATAATATAATATATTATATATTATATTATATTATGGATAATATAATATA TTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAAT ATAATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(775): Show ATGTATACATATAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGCACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATATATGTATATATTATATATACATATATATGTATATATA CATATATATGTATATATTATATATACATATATATGTATATATACATATAT ACATGTATATATTATACATGTATATATGTATATATACATATATACATGTA TATATTATACATGTATATATGTATATATACATATATACATGTATATATTA TACATGTATATATTAATATATAATATATAGTATATATATACATGTATATA TTATATATAAAGTATATATTATATATACGTGTATACAATATATATACGTG TATATATATTATATACACGTATATATAATATATTGTATACAGGTATATAT ACATGTATATAATATATATGTATATATAATATATTGTATACATGTATATA TATACATGATATATACACATATATATCGTGTATATATACACATATATGTA TATATATACATGATATATACATACATATATATCATGTGTATATATATACA TAATATACACGTATATATACATACATATATACATGTATATATACACATAT ATACATACATATATATACATGTATATATACACACATATATATGTGTATGT ATATGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATAT ATAATTTTACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	121	0.0083	782	c.59- others(799): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATACACACACACACACACACACACA CATATACATACACATATATATGTGTGTATATATACATGTATATATATGTA TGTATATATGTGTATATATACATGTATATATGTATGTATATATACGTGTA TATTATGTATATATATACACATGATATATATGTATGTATATATCATGTAT ATATATACATATATGTGTATATATACACGATATATATGTGTATATATCAT GTATATATATACATGTATACAATATATTATATATACATATATATTATATA CATGTATATATACCTGTATACAATATATTATATATACGTGTATATAATAT ATATACACGTATATATATTGTATACACGTATATATAATATATACTTTATA TATAATATATACATGTATATATATACTATATATTATATATTAATATATAC ATGTATAATATATACATGTATATATGTATATATACATATATACATGTATA ATATATACATGTATATATGTATATATACATATATACATGTATAATATATA CATGTATATATGTATATATACATATATATGTATATATAATATATACATAT ATATGTATATATACATATATATGTATATATAATATATACATATATGTATA TATTATATATACATATATATGTATATATAATATATACATATATGTGCATA TAATATACATGTCTATATGTATATATATTATACATACATGTCTATATGTA TACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SENP7_chr3_101319205_101518212	101439968	C C	CGGCCCGC others(775): Show CGGCCCGCCGCCCCATCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCGGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCC GCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGG GAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0138 a0001c0003t0002g0138	1	203	0.0049	782	c.284 others(801): Show c.284+18986_284+18987insAGGCAGGGGGGCCGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTG GCTGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGATGGGGCGG CGGGCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(775): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGC CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCT GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGGG GTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0131 a0001c0003t0002g0131	1	105	0.0095	782	c.284 others(801): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CAGGGGGGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(775): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGC CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCT GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGGG GTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02647.hp2 HG02922.hp2 others(11): Show HG02015.hp2 HG02647.hp2 HG02922.hp2 NA18955.hp1 NA18957.hp1 NA18969.hp2 NA18979.hp2 NA18991.hp2 NA19004.hp1 NA19011.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0002 a0001c0009t0002 a0001c0003t0002 a0001c0009t0002	a0001c0003t0002g0121 a0001c0003t0002g0127 a0001c0003t0002g0128 others(11): Show a0001c0003t0002g0121 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0135 a0001c0003t0002g0143 a0001c0003t0002g0147 a0001c0003t0002g0151 a0001c0003t0002g0164 a0001c0003t0002g0165 a0001c0003t0002g0167 a0001c0003t0002g0179 a0001c0003t0002g0284 a0001c0009t0002g0144 a0001c0009t0002g0163	14	118	0.1186	782	c.284 others(801): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CAGGGGGGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(775): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTTGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGC CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCT GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGGG GTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0141 a0001c0003t0002g0141	1	105	0.0095	782	c.284 others(801): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CAGGGGGGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(775): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCTCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCCACCCCT CCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCGTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0028 a0001c0001t0012g0028	1	40	0.0250	782	c.77- others(799): Show c.77-45374_77-45373insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTTCCCTCCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTACCCCTTC CCCCTCCCCCTCCCCTCCCCTCCCCTCTCCCCACCCCTTCCCCCTCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCC ACCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCGTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCC CCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCCCCCTCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTC CCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	401808	G G	GGCCCCGC others(775): Show GGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGG CCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGG CCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGC TCACACCTGCCCCGCTCACCCCCGGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	180	0.0056	782	c.40 others(793): Show c.4087_*4088insGAGCGGGGCCGGGGGTGAGCGGGGCAGGTGTGAG CGGGGCTGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCC GGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTG AGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC CGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGG GGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGT GAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGC GGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGC CGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGG TGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAG CGGGGCGGGTGTGAGCGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3907		chr11	TogoVar
SLIT3_chr5_168656740_169306139	168726523	G G	GGAGGCAG others(775): Show GGAGGCAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGAG GGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGCG AGGGAGAGGGAGGCAAGGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAG GCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGG AGGGAGGGTGGGAAGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAG GGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAG AGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGG AGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAG GGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGC AGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGG AGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGGGGGAGGCAG GGAGGGAGGGAGAGGGAGGCAGGGAGGCAGGGAGGGAGAGGGAGGCAGGG AGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAG AGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAG GGAGGGAGACGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGG AGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0007 a0007	a0007c0045 a0007c0045	a0007c0045t0002 a0007c0045t0002	a0007c0045t0002g0079 a0007c0045t0002g0079	1	107	0.0093	782	c.227 others(801): Show c.2271-2040_2271-2039insTCTCCCTCCCTACCTCTCCCCCTGCG TCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCCTCTCTCCCTGCCTCCGTC TCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTC CCTCCCTCCCTGCCTCCCTCTCCCTCCCTGCCTCCCTGCCTCCCTCTCCC TCCCTCCCTGCCTCCCCCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTG TCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTC CCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCC TCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCACCCTC CCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCC TCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCTTCCCAC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCC TCCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCCTTGCCTCCC TCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTC CCTCTCCCTCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCC TGCCTC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SYNE3_chr14_95402266_95521650	95419899	G G	GATGGTGG others(775): Show GATGGTGGTGATGGTGAGGGTGATGGTGTTAAGGATGATGGTGATGGTGG TGGTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTGGTG ATGGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGTGGTGGTG ATGGTGGTGGTGATGGTGATAGTAACGACGATGGTGGAGGTAGAGATGGT GGTGGTGGTGATGGCGAGGGTAATTGTGGTAAGGATGATTGTGATGGTGA TGGTGGTGGTGATGGTGAGGGTGATGGTGGTAAGGACGATGGTGATGGTG GTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTGGTGAT GGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGGTGGTGGTGA TGGTGATAGTAACGATGATGGTGGAGGTAGAGATGGTGGTGGTGGTGATG GCGAGGGTAATGGTGGTAAGGATGATTGCGATGGTGATGGTGGTGATGGT GAGGGTGATGGTGGTAAGGATGATGGTGATGGTGGTGATGGTGATAGTGA TGATGATGGAGGTAGAGATGGTGGTGGTGATGGTGAGGGTGATAGTGGTA AGGATGATGGTGATGGTGATGGTGGTGGTGATGGTGATAGTGATGGTGAT GGAGGTAGAGATAGTGGTGGTGGTGATGGTGAGGGTAATGGTGGTAAGGA TGACGGTGGTGGTGATGGTGGTGGTGGTGATGGTGAGGGCAATGGTGTTA AGGATGATGGTGATGGTGGTGGTGATGGTGGTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp1 others(37): Show HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00741.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01496.hp1 HG01517.hp2 HG01891.hp1 HG02109.hp1 HG02129.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02683.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03688.hp2 HG03942.hp2 HG04228.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0002 a0003 a0006 others(4): Show a0002 a0003 a0006 a0007 a0010 a0015 a0036	a0002c0002 a0002c0007 a0002c0015 others(14): Show a0002c0002 a0002c0007 a0002c0015 a0002c0017 a0002c0041 a0002c0056 a0003c0004 a0003c0012 a0003c0042 a0003c0098 a0006c0013 a0006c0044 a0007c0020 a0007c0033 a0010c0024 a0015c0071 a0036c0097	a0002c0002t0052 a0002c0002t0183 a0002c0002t0192 others(34): Show a0002c0002t0052 a0002c0002t0183 a0002c0002t0192 a0002c0002t0193 a0002c0002t0195 a0002c0007t0032 a0002c0007t0182 a0002c0007t0201 a0002c0015t0051 a0002c0017t0008 a0002c0017t0030 a0002c0017t0031 a0002c0017t0044 a0002c0017t0136 a0002c0041t0190 a0002c0056t0180 a0003c0004t0031 a0003c0004t0052 a0003c0004t0187 a0003c0004t0198 a0003c0012t0191 a0003c0042t0174 a0003c0042t0179 a0003c0098t0059 a0006c0013t0181 a0006c0013t0184 a0006c0013t0199 a0006c0044t0030 a0007c0020t0032 a0007c0020t0053 a0007c0020t0200 a0007c0033t0175 a0007c0033t0177 a0010c0024t0003 a0010c0024t0172 a0015c0071t0196 a0036c0097t0178	a0002c0002t0052g0370 a0002c0002t0183g0158 a0002c0002t0192g0278 others(37): Show a0002c0002t0052g0370 a0002c0002t0183g0158 a0002c0002t0192g0278 a0002c0002t0193g0006 a0002c0002t0195g0204 a0002c0007t0032g0259 a0002c0007t0182g0347 a0002c0007t0201g0270 a0002c0015t0051g0067 a0002c0015t0051g0105 a0002c0017t0008g0195 a0002c0017t0030g0051 a0002c0017t0031g0004 a0002c0017t0044g0059 a0002c0017t0136g0089 a0002c0041t0190g0111 a0002c0056t0180g0318 a0003c0004t0031g0018 a0003c0004t0031g0080 a0003c0004t0052g0355 a0003c0004t0187g0276 a0003c0004t0198g0297 a0003c0012t0191g0046 a0003c0042t0174g0187 a0003c0042t0179g0222 a0003c0098t0059g0262 a0006c0013t0181g0365 a0006c0013t0184g0210 a0006c0013t0199g0292 a0006c0044t0030g0041 a0006c0044t0030g0042 a0007c0020t0032g0047 a0007c0020t0053g0241 a0007c0020t0200g0208 a0007c0033t0175g0342 a0007c0033t0177g0353 a0010c0024t0003g0363 a0010c0024t0172g0081 a0015c0071t0196g0321 a0036c0097t0178g0125	40	129	0.3101	782	c.272 others(801): Show c.2728-1874_2728-1873insTACCACCATCACCACCACCATCACCA TCATCCTTAACACCATTGCCCTCACCATCACCACCACCACCATCACCACC ACCGTCATCCTTACCACCATTACCCTCACCATCACCACCACCACTATCTC TACCTCCATCACCATCACTATCACCATCACCACCACCATCACCATCACCA TCATCCTTACCACTATCACCCTCACCATCACCACCACCATCTCTACCTCC ATCATCATCACTATCACCATCACCACCATCACCATCATCCTTACCACCAT CACCCTCACCATCACCACCATCACCATCGCAATCATCCTTACCACCATTA CCCTCGCCATCACCACCACCACCATCTCTACCTCCACCATCATCGTTACT ATCACCATCACCACCACCATCACCATCACCATCATCCTTACCACAATTAC CCTCGCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTATCA CCATCACCACCATCACCATCGTCCTTACCACCATCACCCTCACCATCACC ACCACCATCACCATCACAATCATCCTTACCACAATTACCCTCGCCATCAC CACCACCACCATCTCTACCTCCACCATCGTCGTTACTATCACCATCACCA CCACCATCACCACCACATCACCATCACCATCATCCTTACCACAATTACCC TCGCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTATCACC ATCACCACCACCATCACCATCATCCTTAACACCATCACCCTCACCATCAC CACCAT	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
SYNE3_chr14_95402266_95521650	95419899	G G	GATGGTGG others(775): Show GATGGTGGTGATGGTGAGGGTGATGGTGTTAAGGATGATGGTGATGGTGG TGGTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTGGTG ATGGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGTGGTGGTG ATGGTGGTGGTGATGGTGATAGTAACGATGATGGTGGAGGTAGAGATGGT GGTGGTGGTGATGGCGAGGGTAATTGTGGTAAGGATGATTGTGATGGTGA TGGTGGTGGTGATGGTGAGGGTGATGGTGGTAAGGACGATGGTGATGGTG GTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTGGTGAT GGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGGTGGTGGTGA TGGTGATAGTAACGATGATGGTGGAGGTAGAGATGGTGGTGGTGGTGATG GCGAGGGTAATGGTGGTAAGGATGATTGCGATGGTGATGGTGGTGATGGT GAGGGTGATGGTGGTAAGGATGATGGTGATGGTGGTGATGGTGATAGTGA TGATGATGGAGGTAGAGATGGTGGTGGTGATGGTGAGGGTGATAGTGGTA AGGATGATGGTGATGGTGATGGTGGTGGTGATGGTGATAGTGATGGTGAT GGAGGTAGAGATAGTGGTGGTGGTGATGGTGAGGGTAATGGTGGTAAGGA TGACGGTGGTGGTGATGGTGGTGGTGGTGATGGTGAGGGCAATGGTGTTA AGGATGATGGTGATGGTGGTGGTGATGGTGGTA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0185 a0007c0020t0185	a0007c0020t0185g0148 a0007c0020t0185g0148	1	90	0.0111	782	c.272 others(801): Show c.2728-1874_2728-1873insTACCACCATCACCACCACCATCACCA TCATCCTTAACACCATTGCCCTCACCATCACCACCACCACCATCACCACC ACCGTCATCCTTACCACCATTACCCTCACCATCACCACCACCACTATCTC TACCTCCATCACCATCACTATCACCATCACCACCACCATCACCATCACCA TCATCCTTACCACTATCACCCTCACCATCACCACCACCATCTCTACCTCC ATCATCATCACTATCACCATCACCACCATCACCATCATCCTTACCACCAT CACCCTCACCATCACCACCATCACCATCGCAATCATCCTTACCACCATTA CCCTCGCCATCACCACCACCACCATCTCTACCTCCACCATCATCGTTACT ATCACCATCACCACCACCATCACCATCACCATCATCCTTACCACAATTAC CCTCGCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTATCA CCATCACCACCATCACCATCGTCCTTACCACCATCACCCTCACCATCACC ACCACCATCACCATCACAATCATCCTTACCACAATTACCCTCGCCATCAC CACCACCACCATCTCTACCTCCACCATCATCGTTACTATCACCATCACCA CCACCATCACCACCACATCACCATCACCATCATCCTTACCACAATTACCC TCGCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTATCACC ATCACCACCACCATCACCATCATCCTTAACACCATCACCCTCACCATCAC CACCAT	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
THEG_chr19_356747_381026	376822	C C	CGTGCCCC others(775): Show CGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCC CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCGTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCT CCCCCTCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGT GCCCCACCCAGCCTCTCCCCACTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCC CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CGTGTGCCCCACCCAGCCTCTCCCCACTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0294	1	155	0.0065	782	c.-85 others(791): Show c.-853_-852insAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGTGGGGAGAGGCTGGGTGGGGCACACGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGG GGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGTGGGGAGAGGCTGGGTGGGGCACA CGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGAG GCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGC TGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGCACGGAGGGGGAGA GGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACACGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGG GAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		797		chr19	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(775): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATCATATATATTTATATATT GTATAAAAATATATATATCATATATATTTATATATTATATAAAAATATAT ATATCATATATATTTATATATTATATAAAAATATATATCATATATATTTA TATATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATA TATATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTA TATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATC ATATATATTTATATATTATATAAAAATATATATCATATATATTTATATAT TATATAAAAATATATATCATATATATTTATATATTATATAAAAATATATA TCATATATATTTATATATTATATAAAAATATATATCATATATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATA TATCATATATATTTATATATTATATAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAATATATATCATATATATTTATA TATTAAAAATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03927.hp1 HG01169.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0004t0001 a0001c0002t0004 a0001c0004t0001	a0001c0002t0004g0105 a0001c0004t0001g0126 a0001c0002t0004g0105 a0001c0004t0001g0126	2	59	0.0339	782	c.143 others(803): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATCATATATATTTATATATTGTATAA AAATATATATATCATATATATTTATATATTATATAAAAATATATATATCA TATATATTTATATATTATATAAAAATATATATCATATATATTTATATATT ATATATTATATATTTATATTTTATTTTTATATTTATATTATATATATATT TTTATATTTATATTTATATATTATTATATTATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTATATAAAAATATATATCATATATATTTATATATTATATA AAAATATATATCATATATATTTATATATTATATAAAAATATATATCATAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATATTTATATATTATATAAAAATATATATCATATATATTTATATATTA AAAATATATATCATATATATTTATATATTAAAAATATATATCATATATAT TTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATA TCATATATATTTATATATTAAAATATATATCATATATATTTATATATTAA AAATATATATCATATATATTTATATATTAAAAATATATATCATATATATT TATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM242_chr6_157284025_157328519	157311049	C C	CACCTGGC others(775): Show CACCTGGCCTAATCATAGTGTCCCAGTGAGCACTCACCTGGCCTAATCAT AGTGTCCCAGTGTCCGCTTACCTAGCCTCATCATAGTGGCCCAGTATCCG ATCACCTAGATTCATCATAGTGCCCCAGTGTGTGCTCACCTAGCCTCATC ACAGTGTCCCAGTGTGCACTCACCTAGCCTCATCACAGTGCCCCAGTGTG CGCTCACCTGGCCTCATCATAGTGTCCCAGTGTACACACACCTGGCCTCA TCATGGTGTCCCAGTGTGCGCTCACCTAGCCTCATCAGAGTGCCCCAGTG TGCACTCACCCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCCGGCCT CATCATAGGGTCCCAGTGTGCACTCACCCGGCCTCATCACAGTGTCCCAG TATGCGCTAACCTAGCCTCATCATAGTGTCCCAGTGTTCGCTCACCTAGC CTGATCATAGTCCCCCAGTGTGCACTCACGTGGCCTCATCATACTGTCCC AGTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGAGCACTCAACGG GCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCACCATAGTGGC CCAGTATCCGATCACCTACATTCATCATATTGTTCCAGTGTGCACTCACC TGGCCTCATCATAGTGCCCCAGTGTGTGCTCATCTAGCCTCATCATAGTG TCCCAGTGTGCCCTCACCTAGCCTCATCATACTATCCCAGTGTGCACTCA CCTGGCCTCATGATAGTGTACCAGTGTGCACTA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	293	0.0034	782	c.327 others(799): Show c.327+7732_327+7733insTAGTGCACACTGGTACACTATCATGAGG CCAGGTGAGTGCACACTGGGATAGTATGATGAGGCTAGGTGAGGGCACAC TGGGACACTATGATGAGGCTAGATGAGCACACACTGGGGCACTATGATGA GGCCAGGTGAGTGCACACTGGAACAATATGATGAATGTAGGTGATCGGAT ACTGGGCCACTATGGTGAGGCTAGGTAAGCGGACACTGGGACACTATGAT TAGGCCCGTTGAGTGCTCACTGGGACACTATGATGAGGCCAGGTGAGTGC ACACTGGGACAGTATGATGAGGCCACGTGAGTGCACACTGGGGGACTATG ATCAGGCTAGGTGAGCGAACACTGGGACACTATGATGAGGCTAGGTTAGC GCATACTGGGACACTGTGATGAGGCCGGGTGAGTGCACACTGGGACCCTA TGATGAGGCCGGGTGAGTGCACACTGGGACCCTATGATGAGGCCGGGTGA GTGCACACTGGGGCACTCTGATGAGGCTAGGTGAGCGCACACTGGGACAC CATGATGAGGCCAGGTGTGTGTACACTGGGACACTATGATGAGGCCAGGT GAGCGCACACTGGGGCACTGTGATGAGGCTAGGTGAGTGCACACTGGGAC ACTGTGATGAGGCTAGGTGAGCACACACTGGGGCACTATGATGAATCTAG GTGATCGGATACTGGGCCACTATGATGAGGCTAGGTAAGCGGACACTGGG ACACTATGATTAGGCCAGGTGAGTGCTCACTGGGACACTATGATTAGGCC AGGT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157313360	G G	GGCATCAT others(775): Show GGCATCATCATAGTGTCCCAGTGTGCACTCACCAAGCCTCATCATAGTGT CCCAGTGTGCGCTCACCCGGCCTCATCATAGTGCCCCAGAATGCGCTCTC CTGGCCTCATAATAGTGCCCCAGTGAGCGCGCACCCAGCCTCATCATAGT GCCGCAGTGTGCGCTCACGTGACTTCAACATAGTGTCCCAGTGTGCACTC ACCCGGCCTCATCATAGTACCCCAGTGTGCACTCACCTGGCCTCATCATA CTGTCCCAATGTGCACTCACCTGGCCTCATCATAGTGTCCCAGGGTGCAA TCACCAGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCTGGCCTCATCA TAGTGCGCCAGTGTGTGCTCAACTAGCCTCATCATAGTGCCCCATTGTGC GCTCATCTACCCTCATCATAGTGTCCCAGTGTGCACTCACCTGGCCTCAT CATACTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGT GCACTCACCCGGTCTCATGATAGTGTCCCAGTGTGCGCTGACCTAGCCTC ATCATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGT GTGAGCTCACCCGGCCTCATCATAGTGTCCCAGTGTGCGCTGACCTAGCC TCATCATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAGCGTCCCA GTGTGAGCTCACCCGGACTCATCATAGTGTCCCAATGTGCACTCACACGG CCTCATCATAGTGTCCCAGTATGCACTCACCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18906.hp1 HG02055.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0011 a0002c0002t0020g0011	2	283	0.0071	782	c.327 others(799): Show c.327+5421_327+5422insTGGGTGAGTGCATACTGGGACACTATGA TGAGGCCGTGTGAGTGCACATTGGGACACTATGATGAGTCCGGGTGAGCT CACACTGGGACGCTATGATGAGGCTAGGTGAGTGCACACTGGGACACTAT GATGAGGCTAGGTCAGCGCACACTGGGACACTATGATGAGGCCGGGTGAG CTCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACACT ATGATGAGGCTAGGTCAGCGCACACTGGGACACTATCATGAGACCGGGTG AGTGCACACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGACA GTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGATGAGGGTAGA TGAGCGCACAATGGGGCACTATGATGAGGCTAGTTGAGCACACACTGGCG CACTATGATGAGGCCAGGTGAGCGGACACTGGGACACTATGATGAGGCCT GGTGATTGCACCCTGGGACACTATGATGAGGCCAGGTGAGTGCACATTGG GACAGTATGATGAGGCCAGGTGAGTGCACACTGGGGTACTATGATGAGGC CGGGTGAGTGCACACTGGGACACTATGTTGAAGTCACGTGAGCGCACACT GCGGCACTATGATGAGGCTGGGTGCGCGCTCACTGGGGCACTATTATGAG GCCAGGAGAGCGCATTCTGGGGCACTATGATGAGGCCGGGTGAGCGCACA CTGGGACACTATGATGAGGCTTGGTGAGTGCACACTGGGACACTATGATG ATGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157313360	G G	GGCATCAT others(775): Show GGCATCATCATAGTGTCCCAGTGTGCACTCACCAAGCCTCATCATAGTGT CCCAGTGTGCGCTCACCCGGCCTCATCATAGTGCCCCAGAATGCGCTCTC CTGGCCTCATAATAGTGCCCCAGTGAGCGCGCACCCAGCCTCATCATAGT GCCGCAGTGTGCGCTCACGTGACTTCAACATAGTGTCCCAGTGTGCACTC ACCCGGCCTCATCATAGTACCCCAGTGTGCACTCACCTGGCCTCATCATA CTGTCCCAATGTGCACTCACCTGGCCTCATCATAGTGTCCCAGGGTGCAA TCACCAGGCCTCATCATAGTGTCCCAGTGTCCGCTCACCTGGCCTCATCA TAGTGCGCCAGTGTGTGCTCAACTAGCCTCATCATAGTGCCCCATTGTGC GCTCATCTACCCTCATCATAGTGTCCCAGTGTGCACTCACCTGGCCTCAT CATACTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGT GCACTCACCCGGTCTCATGATAGTGTCCCAGTGTGCGCTGACCTAGCCTC ATCATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGT GTGAGCTCACCCGGCCTCATCATAGTGTCCCAGTGTGCGCTGACCTAGCC TCATCATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCA GTGTGAGCTCACCCGGACTCATCATAGTGTCCCAATGTGCACTCACACGG CCTCATCATAGTGTCCCAGTATGCACTCACCCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp2 HG02109.hp1 others(12): Show HG01496.hp1 HG01884.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02647.hp2 HG02965.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03579.hp1 NA18522.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0037 a0002c0002t0005 a0002c0002t0037	a0002c0002t0005g0009 a0002c0002t0005g0010 a0002c0002t0005g0167 others(10): Show a0002c0002t0005g0009 a0002c0002t0005g0010 a0002c0002t0005g0167 a0002c0002t0005g0168 a0002c0002t0005g0170 a0002c0002t0005g0171 a0002c0002t0005g0172 a0002c0002t0005g0173 a0002c0002t0005g0174 a0002c0002t0005g0175 a0002c0002t0005g0176 a0002c0002t0005g0177 a0002c0002t0037g0169	15	296	0.0507	782	c.327 others(799): Show c.327+5421_327+5422insTGGGTGAGTGCATACTGGGACACTATGA TGAGGCCGTGTGAGTGCACATTGGGACACTATGATGAGTCCGGGTGAGCT CACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACACTAT GATGAGGCTAGGTCAGCGCACACTGGGACACTATGATGAGGCCGGGTGAG CTCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACACT ATGATGAGGCTAGGTCAGCGCACACTGGGACACTATCATGAGACCGGGTG AGTGCACACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGACA GTATGATGAGGCCAGGTGAGTGCACACTGGGACACTATGATGAGGGTAGA TGAGCGCACAATGGGGCACTATGATGAGGCTAGTTGAGCACACACTGGCG CACTATGATGAGGCCAGGTGAGCGGACACTGGGACACTATGATGAGGCCT GGTGATTGCACCCTGGGACACTATGATGAGGCCAGGTGAGTGCACATTGG GACAGTATGATGAGGCCAGGTGAGTGCACACTGGGGTACTATGATGAGGC CGGGTGAGTGCACACTGGGACACTATGTTGAAGTCACGTGAGCGCACACT GCGGCACTATGATGAGGCTGGGTGCGCGCTCACTGGGGCACTATTATGAG GCCAGGAGAGCGCATTCTGGGGCACTATGATGAGGCCGGGTGAGCGCACA CTGGGACACTATGATGAGGCTTGGTGAGTGCACACTGGGACACTATGATG ATGC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157313372	G G	GGATCCCA others(775): Show GGATCCCAGTGTCTGCTCACCTGGCCTCATCATAGTGTCCCAGTGTGCGC TCACCCGGCCTCATCATAGTGCCCCAGAATGCGCTCCCCTGGCCTCATCA TAGTGCCCCAGTGAGCGCGCACCCGGCCTCATCATAGTGCCGCAGTGTGC GCTCACGTGACTTCAACATAGTGTCCCAGTGTGCACTCACCCGGCCTCAT CATAGTACCCCAGTGTGCACTCACCTGGCCTCATCATACTGTCCCAATGT GCACTCACCTGGCCTCATCATAGTGTCCCAGGGTGCAATCACCAGGCCTC ATCATAGTGTCCCAGTGTCCGCTCACCTGGCCTCATCATAGTGCGCCAGT GTGTGCTCAACTAGCCTCATCATAGTGCCCCATTGTGCGCTCATCTACCC TCATCATAGTGTCCCAGTGTGCACTCACCTGGCCTCATCATACTGTCCCA GTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCCGG TCTCATGATAGTGTCCCAGTGTGCGCTGACCTAGCCTCATCATAGTGTCC CAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGAGCTCACCC GGCCTCATCATAGTGTCCCAGTGTGCGCTGACCTAGCCTCATCATAGTGT CCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGAGCTCAT CCGGACTCATCATAGTGTCCCAATGTGCACTCACACGGCCTCATCATAGT GTCCCAGTATGCACTCACCCAGCCTCATCATAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	99	0.0101	782	c.327 others(799): Show c.327+5409_327+5410insGTATGATGAGGCTGGGTGAGTGCATACT GGGACACTATGATGAGGCCGTGTGAGTGCACATTGGGACACTATGATGAG TCCGGATGAGCTCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACA CTGGGACACTATGATGAGGCTAGGTCAGCGCACACTGGGACACTATGATG AGGCCGGGTGAGCTCACACTGGGACACTATGATGAGGCTAGGTGAGTGCA CACTGGGACACTATGATGAGGCTAGGTCAGCGCACACTGGGACACTATCA TGAGACCGGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGCG CACACTGGGACAGTATGATGAGGCCAGGTGAGTGCACACTGGGACACTAT GATGAGGGTAGATGAGCGCACAATGGGGCACTATGATGAGGCTAGTTGAG CACACACTGGCGCACTATGATGAGGCCAGGTGAGCGGACACTGGGACACT ATGATGAGGCCTGGTGATTGCACCCTGGGACACTATGATGAGGCCAGGTG AGTGCACATTGGGACAGTATGATGAGGCCAGGTGAGTGCACACTGGGGTA CTATGATGAGGCCGGGTGAGTGCACACTGGGACACTATGTTGAAGTCACG TGAGCGCACACTGCGGCACTATGATGAGGCCGGGTGCGCGCTCACTGGGG CACTATGATGAGGCCAGGGGAGCGCATTCTGGGGCACTATGATGAGGCCG GGTGAGCGCACACTGGGACACTATGATGAGGCCAGGTGAGCAGACACTGG GATC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(775): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCC TTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCT CCCTTCCCCCTTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0024 a0024	a0024c0018 a0024c0018	a0024c0018t0001 a0024c0018t0001	a0024c0018t0001g0201 a0024c0018t0001g0201	1	8	0.1250	782	c.657 others(797): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCC TCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTC CC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(775): Show TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCC CCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCT CCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCC TTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	100	0.0100	782	c.-10 others(799): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCTCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCC TTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTC CCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTC CCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZNF365_chr10_62369369_62407450	62370977	T T	TGATATAT others(775): Show TGATATATATCACATATATGATATATATCATATATGTGATATATATCATA TATATCAAATATATGATATATATCATATATGTGATATATCACATATGTGA TATATATCATATCACATATCATATGACATATCATATCACATATCACATAT CACATATCACATATCACATATCATATGATATATATCACATGTGATATATA GCATATGTGATATATATCATATATATCACATGTGATATATAGCATATGTG ATATATATCATATATATCACATGTGATATATAGCATATGTGATATATATC ATATATATCACATGTGCTATATAGCATATGTGATATATATCATATATATC ACATATGCTATATAGCATACGTGATATATATCATATATATCATATATGAT GTATAGCATGATATATATGCTATATATCACATGTGATATATATGCTATAT ATCACATGTGATATATATGCTATATATCACATGTGATATATATGCTATAT ATCACATGTGATATATATGCTATATATCACATGTGATATATATGCTATAT ATCACATGTGATATATATGCTATATATCACATGTGATATATATGCTATAT ATCACATGTGATATATATGCTATATATCACATGTGATATATATGCTATAT ATCACATGTGATATATATGCTATATATCACATATATCACATGTGATATAT AGCATATGTGATATATATGATATATGTGATATATATCATATGTGATATAT ATGATATATATCACATATATATGATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	328	0.0030	782	c.-34 others(793): Show c.-3495_-3494insGATATATATCACATATATGATATATATCATATAT GTGATATATATCATATATATCAAATATATGATATATATCATATATGTGAT ATATCACATATGTGATATATATCATATCACATATCATATGACATATCATA TCACATATCACATATCACATATCACATATCACATATCATATGATATATAT CACATGTGATATATAGCATATGTGATATATATCATATATATCACATGTGA TATATAGCATATGTGATATATATCATATATATCACATGTGATATATAGCA TATGTGATATATATCATATATATCACATGTGCTATATAGCATATGTGATA TATATCATATATATCACATATGCTATATAGCATACGTGATATATATCATA TATATCATATATGATGTATAGCATGATATATATGCTATATATCACATGTG ATATATATGCTATATATCACATGTGATATATATGCTATATATCACATGTG ATATATATGCTATATATCACATGTGATATATATGCTATATATCACATGTG ATATATATGCTATATATCACATGTGATATATATGCTATATATCACATGTG ATATATATGCTATATATCACATGTGATATATATGCTATATATCACATGTG ATATATATGCTATATATCACATGTGATATATATGCTATATATCACATATA TCACATGTGATATATAGCATATGTGATATATATGATATATGTGATATATA TCATATGTGATATATATGATATATATCACATATATATGATATATATCA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3391		chr10	TogoVar
ADARB1_chr21_45069580_45231560	45156122	T T	TCCACCCA others(776): Show TCCACCCATCATCACCTATCATCCATCATCCATTCATCCACCCATCCATC CACCTACCCATCATCACCCATCATCTGTCATCCATCCATCCATCCACCCA CCCACCCACCCATCATCACCCATCACCCATCATCTATCTATCCATCCATC CACCCATCCATCATTACCCATCATCCATCTATCCATGCACCCACCCACCA TCACCCATCATCCACCCACCCAACCACCCACCATCACCCATCATCCATCA TCCATTCATCCATCCATCTGCCCACCCACCCATCATCCATTCATCCATCC ATCCACCCACCCATCATCACCTATCATCCATCATCCATTCATCCATCCAT CCATCCACCTACCCATCATCACCCATCATCTGTCATCCATCCATCCATCC ACCCACCCACCCATCATCACCCATCACCCATCATCTATCCAGCCATCCAT CCACCCACCCATCATCACCCATCACCCATCATCCATCCATCCATCCACCC ACCCATCATCACCCATCACCCATCATCCATCTATCCATCCACCCACCCAT CATCACCCATCACCCATCATCCATCCATCCATCCATCCACCCACCCATCA TCACCCATCACCTATCTATCCATCCATCCACCCACCCATCATTACCCATC ATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCACCCACCCA ACCACCCACCATCACCCATCATCCATCATCCATTCATCCATCCATCTGCC CACCCACCCATCATCCATTCATCCATCCATCCAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0118 a0001c0002t0005g0118	1	17	0.0588	783	c.-47 others(802): Show c.-47-15449_-47-15448insCCCATCCATCCACCTACCCATCATCA CCCATCATCTGTCATCCATCCATCCATCCACCCACCCACCCACCCATCAT CACCCATCACCCATCATCTATCTATCCATCCATCCACCCATCCATCATTA CCCATCATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCACC CACCCAACCACCCACCATCACCCATCATCCATCATCCATTCATCCATCCA TCTGCCCACCCACCCATCATCCATTCATCCATCCATCCACCCACCCATCA TCACCTATCATCCATCATCCATTCATCCATCCATCCATCCACCTACCCAT CATCACCCATCATCTGTCATCCATCCATCCATCCACCCACCCACCCATCA TCACCCATCACCCATCATCTATCCAGCCATCCATCCACCCACCCATCATC ACCCATCACCCATCATCCATCCATCCATCCACCCACCCATCATCACCCAT CACCCATCATCCATCTATCCATCCACCCACCCATCATCACCCATCACCCA TCATCCATCCATCCATCCATCCACCCACCCATCATCACCCATCACCTATC TATCCATCCATCCACCCACCCATCATTACCCATCATCCATCTATCCATGC ACCCACCCACCATCACCCATCATCCACCCACCCAACCACCCACCATCACC CATCATCCATCATCCATTCATCCATCCATCTGCCCACCCACCCATCATCC ATTCATCCATCCATCCACCCACCCATCATCACCTATCATCCATCATCCAT TCATCCA	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB1_chr21_45069580_45231560	45156122	T T	TCCACCCA others(776): Show TCCACCCATCATCACCTATCATCCATCATCCATTCATCCACCCATCCATC CACCTACCCATCATCACCCATCATCTGTCATCCATCCATCCATCCACCCA CCCACCCACCCATCATCACCCATCACCCATCATCTATCTATCCATCCATC CACCCATCCATCATTACCCATCATCCATCTATCCATGCACCCACCCACCA TCACCCATCATCCACCCACCCAACCACCCACCATCACCCATCATCCATCA TCCATTCATCCATCCATCTGCCCACCCACCCATCATCCATTCATCCATCC ATCCACCCACCCATCATCACCTATCATCCATCATCCATTCATCCATCCAT CCATCCACCTACCCATCATCACCCATCATCTGTCATCCATCCATCCATCC ACCCACCCACCCATCATCACCCATCACCCATCATCTATCCAGCCATCCAT CCACCCACCCATCATCACCCATCACCCATCATCCATCCATCCATCCACCC ACCCATCATCACCCATCACCCATCATCCATCTATCCATCCACCCACCCAT CATCACCCATCACCCATCCATCCATCCATCCACCCACCCATCATCACCCA TCACCCATCATCTATCTATCCATCCATCCACCCACCCATCATTACCCATC ATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCACCCACCCA ACCACCCACCATCACCCATCATCCATCATCCATTCATCCATCCATCTGCC CACCCACCCATCATCCATTCATCCATCCATCCAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0075 a0001c0002t0075	a0001c0002t0075g0081 a0001c0002t0075g0081	1	17	0.0588	783	c.-47 others(802): Show c.-47-15449_-47-15448insCCCATCCATCCACCTACCCATCATCA CCCATCATCTGTCATCCATCCATCCATCCACCCACCCACCCACCCATCAT CACCCATCACCCATCATCTATCTATCCATCCATCCACCCATCCATCATTA CCCATCATCCATCTATCCATGCACCCACCCACCATCACCCATCATCCACC CACCCAACCACCCACCATCACCCATCATCCATCATCCATTCATCCATCCA TCTGCCCACCCACCCATCATCCATTCATCCATCCATCCACCCACCCATCA TCACCTATCATCCATCATCCATTCATCCATCCATCCATCCACCTACCCAT CATCACCCATCATCTGTCATCCATCCATCCATCCACCCACCCACCCATCA TCACCCATCACCCATCATCTATCCAGCCATCCATCCACCCACCCATCATC ACCCATCACCCATCATCCATCCATCCATCCACCCACCCATCATCACCCAT CACCCATCATCCATCTATCCATCCACCCACCCATCATCACCCATCACCCA TCCATCCATCCATCCACCCACCCATCATCACCCATCACCCATCATCTATC TATCCATCCATCCACCCACCCATCATTACCCATCATCCATCTATCCATGC ACCCACCCACCATCACCCATCATCCACCCACCCAACCACCCACCATCACC CATCATCCATCATCCATTCATCCATCCATCTGCCCACCCACCCATCATCC ATTCATCCATCCATCCACCCACCCATCATCACCTATCATCCATCATCCAT TCATCCA	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCGTGA others(776): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCA CTTCCCACCCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGT GACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACA GTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCA CCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCAC TTCCCACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTG ACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACATTTACA GTGAGCACTTCCCACCCCTGTGACCACACATTTACAGTGAGCACTTCCCA CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCAC TTCCCACCCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAG TGAGCACTTCCCACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCAC CCCGTGACCACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	209	0.0048	783	c.-16 others(794): Show c.-1625_-1624insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCA CTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGGTGGGAA GTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGG TGGGAAGTGCTCACTGTAAATGTGTGGTCACAGGGGTGGGAAGTGCTCAC TGTAAATGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGT CACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAA GTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGG TGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCAC TGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGGTGGGAAG TGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGT GTGTGGTCACGGGGGTGAGAAGTGCTCGCTGTAAATGAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(776): Show GACCCCTGATGGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAA CCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCC CCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCACCGCTGGTCCCA GCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCC CTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCCAC CCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCTC CCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTCC ACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCCACCCCTG ATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCTCCCTTC CACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTCCACTCC CCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCCACCCCTGATGCC ATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCTCCCTTCCACTC CTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTCCACTCCCCCCA CCCCTGATCCCACACCTCCCTTTCACTCCCCCCACCCCTGATGCCATGCC TCCCTTCCACTCTCCCCACCCCTGGTCCCAGCCTCCCTTCCACTCCCCCA ACCCCTGATCCCACACCTCCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03492.hp2 HG01261.hp2 HG03492.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0012 a0001c0005 a0003c0012	a0001c0005t0001 a0003c0012t0005 a0001c0005t0001 a0003c0012t0005	a0001c0005t0001g0223 a0003c0012t0005g0243 a0001c0005t0001g0223 a0003c0012t0005g0243	2	3	0.6667	783	c.39+ others(800): Show c.39+23601_39+23602insGGCCGTGCCTCCTTTCCACTCCCCCAAC CCCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTC CCTTCCACTCCCCCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCA CCGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTG GCCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTC CACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCT GGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCC AGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTC CCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCC CAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCT CCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCC ACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCC TCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTT CCACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCCCACCCC TGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCCAGCCTCCCT TCCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCTACCC CTGAT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
C4orf19_chr4_37448925_37598510	37585525	T T	TGAGGGAG others(776): Show TGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGG AGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAG GGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGG GAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGG TGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAG AGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGG GAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTG AGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTGGAGGAG AGGTATTGAGGGAGGGGAGGGTGGAGGAGAGGTATTGAGGGAGGGGAGGG GAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGA GAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTG TTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAT CAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGA GGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAG GGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAG GTGTTGAGGGAGGGGAGGGGAGAGGAGAGACATC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	261	0.0038	783	c.-22 others(800): Show c.-22-3297_-22-3296insATGTTGAGGGAGGGGAGGGGAGAGGAGA GGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGG AGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAG AGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGT TGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGG AGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAG GGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGG GAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTGGAGGAGAGG TATTGAGGGAGGGGAGGGTGGAGGAGAGGTATTGAGGGAGGGGAGGGGAG AGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAG GAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTG AGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAG AGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGG GAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGA GGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTG TTGAGGGAGGGGAGGGGAGAGGAGAGACATCGAGGGAGGGGAGGGGAGAG GAGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDH3_chr16_68640310_68705292	68641956	T T	TTGCACTC others(776): Show TTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTCGTCTCAAAAAAAAAA AAAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCTGTTTCCTGGTAGAC CCTGACTGGCACACCTTGTGAATCACTTTATTTCCAATTTCCAAATCCAA TCCCAATCCACCCCCTCCCCCCCCTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTC ACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGTGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCCCTCCCCCCTTTTTTGAGCTAGGG TCTCACTTTGTGCTGCTGGGAATGTAAAATGATGCAGTCGCAGCCAGGCG CGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGG ATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAACC AGGTCTTTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCACCT GTAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGG AGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0238 a0001c0005t0004g0238	1	235	0.0043	783	c.-34 others(794): Show c.-3424_-3423insTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTC GTCTCAAAAAAAAAAAAAAAGGAAAGACTTGAACCTCCTGAGTTCGATTC TGTTTCCTGGTAGACCCTGACTGGCACACCTTGTGAATCACTTTATTTCC AATTTCCAAATCCAATCCCAATCCACCCCCTCCCCCCCCTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCCCGCTACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCCTCCCCCC TTTTTTGAGCTAGGGTCTCACTTTGTGCTGCTGGGAATGTAAAATGATGC AGTCGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGC CAACATGGTGAAACCAGGTCTTTACTAAAAATACAAAAATTAGCCGGGCA TGGTGGTGCGCACCTGTAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAA TCGCCTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCAC	CDH3	ENSG00000062038.15	transcript	ENST00000264012.9	protein_coding		3353		chr16	TogoVar
CDH3_chr16_68640310_68705292	68641956	T T	TTGCACTC others(776): Show TTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTCGTCTCAAAAAAAAAA AAAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCTGTTTCCTGGTAGAC CCTGACTGGCACACCTTGTGAATCACTTTATTTCCAATTTCCAAATCCAA TCCCAATCCACCCCCTCCCCCCCTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTC ACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGTGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCCCTCCCCCCTTTTTTGAGCTAGGG TCTCACTTTGTGCTGCTGGGAATGTAAAATGATGCAGTCGCAGCCAGGCG CGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGG ATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAACC AGGTCTTTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCACCT GTAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGG AGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0236 a0001c0001t0007g0236	1	235	0.0043	783	c.-34 others(794): Show c.-3424_-3423insTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTC GTCTCAAAAAAAAAAAAAAAGGAAAGACTTGAACCTCCTGAGTTCGATTC TGTTTCCTGGTAGACCCTGACTGGCACACCTTGTGAATCACTTTATTTCC AATTTCCAAATCCAATCCCAATCCACCCCCTCCCCCCCTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCCCGCTACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCCTCCCCCC TTTTTTGAGCTAGGGTCTCACTTTGTGCTGCTGGGAATGTAAAATGATGC AGTCGCAGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGC CAACATGGTGAAACCAGGTCTTTACTAAAAATACAAAAATTAGCCGGGCA TGGTGGTGCGCACCTGTAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAA TCGCCTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCAC	CDH3	ENSG00000062038.15	transcript	ENST00000264012.9	protein_coding		3353		chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133762	C C	CCTCTCTC others(776): Show CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTGTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	195	0.0051	783	c.-42 others(794): Show c.-4282_-4281insCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCC TGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3999		chr19	TogoVar
COG3_chr13_45459939_45541701	45485402	G G	GGGGGGGG others(776): Show GGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCGGGGGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGACGGC TGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGC TGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGGCCATCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCC CCCACCTCCCTCCCAGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0027 a0002c0004t0010g0027	1	270	0.0037	783	c.844 others(800): Show c.844-1087_844-1086insGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCAGG GGGGCTGACACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGC AGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGACGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCT CCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGGCCATCACCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGG CGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGCACGGCTGGCCGGGC GGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG GGGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGCAGG others(776): Show GGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAA GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG AAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAG GAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGG AAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0043 a0001c0001t0005g0043	1	171	0.0058	783	c.85- others(800): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTTCCCCT CCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TGCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DNAH10_chr12_123757301_123940714	123911540	A A	ACTGTCCT others(776): Show ACTGTCCTGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGTCTGTCCC AGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGGGGGGGGGGGGGG GGGGGGGTCTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCCTGGGGGG GTCTGTCCTGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTG TCCTGGGGGGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCTGTCCTGG GGGTGGTCTGTCCTGGAGGGGTCTGTCCTAGGGGAGTCTGTCCTGGGGGG GGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGACT GTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCC TGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCAGGGGATCTGTCCTTGGG GGACTGTCCTGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTC TGTCCTGGGGGGGTCTGTCCCAGGGGGTCTGTCCTGGGGGGATCTGTCCT GGGGAGGTCTGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCCTTGGGGG GGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGGGGGTC TGTCCTGGGGGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGTCTGTCCT GGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGG GGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGCGT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0006 a0006	a0006c0083 a0006c0083	a0006c0083t0001 a0006c0083t0001	a0006c0083t0001g0157 a0006c0083t0001g0157	1	127	0.0079	783	c.101 others(802): Show c.10134+878_10134+879insGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGTCTGTCCCAGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGG GGGGGGGGGGGGGGGGGGGGTCTGTCCTGGGGGGACTGTCCTGGGGGGAT CTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGTCCTGGGGGGGTCTGTC CTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGGGTTTGTCCTGGGG GAGTCTGTCCTGGGGGTGGTCTGTCCTGGAGGGGTCTGTCCTAGGGGAGT CTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTG TCCCGGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGG GGGTGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCAGGGG ATCTGTCCTTGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCATCTGT CCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCCAGGGGGTCTGTCCTGG GGGGATCTGTCCTGGGGAGGTCTGTCCTGGGGGGTCTGTCCTGGAGGTGT CTGTCCTTGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTG TCCTAGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTTTGTCCTGG GGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGG GGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTG TCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
EML5_chr14_88607431_88797953	88796212	A A	ATATATAT others(776): Show ATATATATATTATATGTTATATATATTATATATATTATATATATATTATA TGTTATATATATTATATATATATTATATGTTATATATATTATATATATAT TATATGTTATATATATTATATATATATTATATGTTATATATTTTATATAT ATATTATATGTTATATATATTATATATATATTATATGTTATATATTTTAT ATATATATTATATGTTATATATATTATATATATTTTATATATATATTATG TTTATATATTATATATATTATATATATTATATGTTATATATATTATATAT ATTATATATCTTATATGTTATATATATTATATATATATTATGTTATATAT ATTATATATATTATGTTATATATAATATATATTATATGTTATATATGTTA TACATATTATATGTTATATGTTATATATATTATATATGTTATATGTTATA TATTATATATATTATGTATATTATATGTTATATATATTATATATATTATG TATATTATATGTTTTATATATTATATATTATATATATTATATGTTTTATA TATTATATATTATATATATTATATGTTATATATATTATATATTATATACA TTATATGTTATATATATTATATATTATATATATTATATGTTATATATATT ATATATTATATATATTATATGTTATATATATTATATATTATATATATTAT ATGTTATATATATTATATATTATATATATTATATGTTATATATATTATAT ATTATATATATTATATGTTATATATATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01496.hp2 HG01943.hp2 others(1): Show HG00738.hp1 HG01496.hp2 HG01943.hp2 HG01952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0009 a0002c0002t0003 a0001c0001t0002 a0001c0001t0009 a0002c0002t0003	a0001c0001t0002g0145 a0001c0001t0009g0058 a0001c0001t0009g0059 others(1): Show a0001c0001t0002g0145 a0001c0001t0009g0058 a0001c0001t0009g0059 a0002c0002t0003g0027	4	252	0.0159	783	c.-37 others(794): Show c.-3710_-3709insATATATAATATATATAACATATAATATATATAAT ATATAATATATATAACATATAATATATATAATATATAATATATATAACAT ATAATATATATAATATATAATATATATAACATATAATATATATAATATAT AATATATATAACATATAATATATATAATATATAATATATATAACATATAA TGTATATAATATATAATATATATAACATATAATATATATAATATATAATA TATAAAACATATAATATATATAATATATAATATATAAAACATATAATATA CATAATATATATAATATATATAACATATAATATACATAATATATATAATA TATAACATATAACATATATAATATATATAACATATAACATATAATATGTA TAACATATATAACATATAATATATATTATATATAACATAATATATATAAT ATATATAACATAATATATATATAATATATATAACATATAAGATATATAAT ATATATAATATATATAACATATAATATATATAATATATATAATATATAAA CATAATATATATATAAAATATATATAATATATATAACATATAATATATAT ATAAAATATATAACATATAATATATATATAATATATATAACATATAATAT ATATATAAAATATATAACATATAATATATATATAATATATATAACATATA ATATATATATAATATATATAACATATAATATATATATAATATATATAACA TATAATATATATATAATATATATAATATATATAACATATAATATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3260		chr14	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(776): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG01175.hp2 others(1): Show HG00140.hp2 HG00597.hp1 HG01175.hp2 HG03139.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0001 a0002c0040 a0004c0016 others(1): Show a0002c0001 a0002c0040 a0004c0016 a0005c0034	a0002c0001t0001 a0002c0040t0001 a0004c0016t0001 others(1): Show a0002c0001t0001 a0002c0040t0001 a0004c0016t0001 a0005c0034t0001	a0002c0001t0001g0124 a0002c0040t0001g0100 a0004c0016t0001g0099 others(1): Show a0002c0001t0001g0124 a0002c0040t0001g0100 a0004c0016t0001g0099 a0005c0034t0001g0182	4	77	0.0519	783	c.282 others(802): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTA TACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(776): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19010.hp1 HG00735.hp1 NA19010.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0001 a0003c0005t0001 a0002c0001t0001 a0003c0005t0001	a0002c0001t0001g0107 a0003c0005t0001g0180 a0002c0001t0001g0107 a0003c0005t0001g0180	2	142	0.0141	783	c.282 others(802): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTA TACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATAAA others(776): Show TATATAAATATATAAATAAAAATATATAAAAATATATACATATATAAATA TAAATATATAATATATAAATATATAAATATATAAATATATAAATATAAAT ATATAAAAATATAGTAAATATATAAAATATATAAATATATAAATATATAT AAATATATATAAATATATAAATATATAAATATATATAAATATATAAATAT ATAAATATATAAAAATATATAAATACATAAATATATAAATATATAAATAT ATAAATATATAAATATATATAAGTACATATAAATATATATACATAAATAT ATAAATATATAAATATATAAATACATAATATATATAAATATAAAATATAT ATAATATATAAAATATATTAAAAATATAAAAATATATATAAAAAATATAT AAATATATAAAAATATATAAAAAATATATACACATATAAATATATATAAA AATATATAAATATATATAAAATATATATAAATTATATATTATATATAAAT ATAATATATAAATATATATAAATATATAAATATATATAAATATATACAAT ATATAAATATATATAAATATATACAATATATAAATATATATATACAATAT ATAAATATATATAAATATATACAATATATAAATATATATAAATATATACA ATATATAAATATATATAAATATAATACAATATAAAATATATATAAATATA TATAATATATAAATATATATAAATATATAAATATATATAAATATATATAA TATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	12	0.0833	783	c.617 others(800): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTTATATTGTATTATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATTTATATATAATATATAATTTATATATATTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATGTATATATATTTATATGTACTTATATATATTTATAT ATTTATATATTTATATATTTATATATTTATGTATTTATATATTTTTATAT ATTTATATATTTATATATTTATATATATTTATATATTTATATATTTATAT ATATTTATATATATTTATATATTTATATATTTTATATATTTACTATATTT TTATATATTTATATTTATATATTTATATATTTATATATTTATATATTATA TATTTATATTTATATATGTATATATTTTTATATATTTTTATTTATATATT TATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATAAA others(776): Show TATATAAATATATAAATAAAAATATATAAAAATATATACATATATAAATA TAAATATATAATATATAAATATATAAATATATAAATATATAAATATAAAT ATATAAAAATATATAAATATATAAAAATATATAAATATATAAATATATAT AAATATATATAAATATATAAATATATAAATATATATAAATATATAAATAT ATAAATATATAAAAATATATAAATACATAAACATATAAATATATAAATAT ATAAATATATAAATATATATAAGTACATATAAATATATATACATAAATAT ATAAATATATAAATATATAAATACATAATATATATAAATATAAAATATAT ATAATATATAAAATATATTAAAAATATAAAAATATATATAAAAAATATAT AAATATATAAAAATATATAAAAAATATATACACATATAAATATATATAAA AATATATAAATATATATAAAAATATATAAATATATATTATATATAAATAT ATAATATATAAATATATATAAATATATAAATATATATAAATATATACAAT ATATAAATATATATAAATATATACAATATATAAATATATATATACAATAT ATAAATATATATAAATATATACAATATATAAATATATATAAATATATACA ATATATAAATATATATAAATATATACAATATATAAATATATATAAATATA TATAATATATAAATATATATAAATATATAAATATATATAAATATATATAA TATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	12	0.0833	783	c.617 others(800): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATGTATATATATTTATATGTACTTATATATATTTATAT ATTTATATATTTATATATTTATATGTTTATGTATTTATATATTTTTATAT ATTTATATATTTATATATTTATATATATTTATATATTTATATATTTATAT ATATTTATATATATTTATATATTTATATATTTTTATATATTTATATATTT TTATATATTTATATTTATATATTTATATATTTATATATTTATATATTATA TATTTATATTTATATATGTATATATTTTTATATATTTTTATTTATATATT TATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar

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