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
ADGRE3_chr19_14614117_14679844	14620388	A A	ACATGTAT others(273): Show ACATGTATATATGAATATATATGTATATTCATGTATATATGAATATATAT GTATATTCATGTATATATGAATATATATGTATATTCATGTATATATGAAT ATATATGTATATTCATGTATATATGAATATATATGTATATTCATGTATAT ATGAATATATATGTATATTCATGTATATATGAATATATATGTATATTCAT GTATATATGAATATATATGTATATTCATGTATATATGAATATATATGTAT ATTCATGTATATATGAATATATATGTATATT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG02132.hp1 others(5): Show HG00438.hp1 HG00741.hp1 HG02132.hp1 NA18612.hp2 NA18981.hp2 NA19079.hp1 NA19091.hp1 NA20300.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0008	a0001c0001 a0003c0002 a0004c0004 others(2): Show a0001c0001 a0003c0002 a0004c0004 a0006c0008 a0008c0009	a0001c0001t0001 a0003c0002t0001 a0004c0004t0001 others(2): Show a0001c0001t0001 a0003c0002t0001 a0004c0004t0001 a0006c0008t0001 a0008c0009t0001	a0001c0001t0001g0119 a0001c0001t0001g0166 a0003c0002t0001g0254 others(5): Show a0001c0001t0001g0119 a0001c0001t0001g0166 a0003c0002t0001g0254 a0004c0004t0001g0353 a0006c0008t0001g0042 a0006c0008t0001g0047 a0006c0008t0001g0207 a0008c0009t0001g0227	8	372	0.0215	280	c.192 others(297): Show c.1921-918_1921-917insAATATACATATATATTCATATATACATG AATATACATATATATTCATATATACATGAATATACATATATATTCATATA TACATGAATATACATATATATTCATATATACATGAATATACATATATATT CATATATACATGAATATACATATATATTCATATATACATGAATATACATA TATATTCATATATACATGAATATACATATATATTCATATATACATGAATA TACATATATATTCATATATACATGAATATACATATATATTCATATATACA TG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14620455	T T	TGAATATA others(273): Show TGAATATATATGTATATTCATGTATATATGAATATATATGTATATTCATG TATATATGAATATATATGTATATTCATGTATATATGAATATATATGTATA TTCATGTATATATGAATATATATGTATATTCATGTATATATGAATATATA TGTATATTCATGTATATATGAATATATATGTATATTCATGTATATATGAA TATATATGTATATTCATGTATATATGAATATATATGTATATTCATGTATA TATGAATATATATGTATATTCATGTATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0001 a0020c0023t0001	a0020c0023t0001g0341 a0020c0023t0001g0341	1	372	0.0027	280	c.192 others(297): Show c.1921-985_1921-984insGTATATACATGAATATACATATATATTC ATATATACATGAATATACATATATATTCATATATACATGAATATACATAT ATATTCATATATACATGAATATACATATATATTCATATATACATGAATAT ACATATATATTCATATATACATGAATATACATATATATTCATATATACAT GAATATACATATATATTCATATATACATGAATATACATATATATTCATAT ATACATGAATATACATATATATTCATATATACATGAATATACATATATAT TC	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
ANO10_chr3_43360848_43627011	43571009	C C	CAAAAAGT others(273): Show CAAAAAGTGGGCGAAGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GTGGATCATGAGGTCAGGAGATCGAGACCACGGTGAAACCCCGTCTCTAC TAAAAATAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGACTGCGCCACTGTACTCCAGCCTGGGTGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0138 a0003c0008t0001g0138	1	224	0.0045	280	c.121 others(299): Show c.1218+3799_1218+3800insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGTCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTAT TTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCTTCGCCCACT TTTT	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	7/12			chr3	TogoVar
ANO7_chr2_241183677_241230976	241218055	C C	CGCGCAGG others(273): Show CGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGG GGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGGCAGCGGGGGCGCG CAGGGGCGGGCCGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCA GCGGGGGCGCGTAGGGACGGGGAGGGGGGGGCAGCGGGGGCGCGCAGGGG CGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGG GGCGGGGCGGGGGGCAGCGGGGGGCGCGCAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	396	0.0025	280	c.217 others(297): Show c.2178+165_2178+166insCGCAGGGGCGGGGCGGGGGGCAGCGGGG GCGCGCAGGGGCGGGGCGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGC GGGGGGGCAGCGGGGGCGCGCAGGGGCGGGCCGGGGGCAGCGGGGGCGCG CAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGTAGGGACGGGGAGGGGGGG GCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGG GCGGAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGGCGCGCA GG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO7_chr2_241183677_241230976	241218055	C C	CGCGCAGG others(273): Show CGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGG GGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGGCAGCGGGGGCGC GCAGGGGCGGGCCGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGC AGCGGGGGCGCGTAGGGACGGGGCGGGGGGGGCAGCGGGGGCGCGCAGGG GCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAG GGGCGGGGCGGGGGGCAGCGGGGGCGCGCAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03927.hp2 NA18984.hp2 others(3): Show HG01943.hp1 HG03927.hp2 NA18984.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0001c0001t0012 a0007c0011t0001 a0001c0001t0001 a0001c0001t0012 a0007c0011t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0083 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0012g0078 a0007c0011t0001g0222	6	396	0.0152	280	c.217 others(297): Show c.2178+165_2178+166insCGCAGGGGCGGGGCGGGGGGCAGCGGGG GCGCGCAGGGGCGGGGCGGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGG CGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGCCGGGGGCAGCGGGGGCGC GCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGTAGGGACGGGGCGGGGGG GGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGG GGCGGAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCA GG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO7_chr2_241183677_241230976	241218060	A A	AGGGGCGG others(273): Show AGGGGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGG GGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGGCAGCGGGGGCGCGCAG GGGCGGGCCGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCG GGGGCGCGTAGGGACGGGGCGGGGGGGGCAGCGGGGGCGCGCAGGGGCGG GGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGC GGGGCGGGGGGCAGCGGGGGCGCGCAGGGGC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0033 a0001c0003t0001g0033	1	396	0.0025	280	c.217 others(297): Show c.2179-170_2179-169insCGGGGGGGCAGCGGGGGCGCGCAGGGGC GGGGCGGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGGCAGC GGGGGCGCGCAGGGGCGGGCCGGGGGCAGCGGGGGCGCGCAGGGGCGGGG CGGGGGGCAGCGGGGGCGCGTAGGGACGGGGCGGGGGGGGCAGCGGGGGC GCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGG GCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGG GG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP39_chr8_144524179_144690846	144686977	C C	CCCCGTGA others(273): Show CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACA CTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACT TCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACC ACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACGCACTGGCGGCG AGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCC GTGACCACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	246	0.0041	280	c.-13 others(291): Show c.-1374_-1373insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1132		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687046	C C	CCACCCCG others(273): Show CCACCCCGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGTGGTGAGC ACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTG ACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGG TGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACC CCGTGACCACTCATTTACAGCGAGCACTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	246	0.0041	280	c.-14 others(291): Show c.-1443_-1442insAGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGT GGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCG CCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCAC GGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCACTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGGGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1201		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687120	C C	CCCCGTGA others(273): Show CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCA CTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCAC TTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGAC CACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCG AGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCC GTGACCACGCACTGGCGGCGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	246	0.0041	280	c.-15 others(291): Show c.-1517_-1516insTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTC ACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTG CTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGC GTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1275		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687120	C C	CCCCGTGA others(273): Show CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACGC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCAC TTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGAC CACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCG AGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCC GTGACCACGCACTGGCGGCGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0049 a0006c0012t0001g0049	1	246	0.0041	280	c.-15 others(291): Show c.-1517_-1516insTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTC ACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTG CTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCG TGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1275		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687156	C C	CCCCGTGA others(273): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACGC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCAGTGAGCAC TTCCCACCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCAGTG AGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCC GTGACCACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0091 a0001c0018t0001g0091	1	246	0.0041	280	c.-15 others(291): Show c.-1553_-1552insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCAC TGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTG CTCACTGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCG TGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1311		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCGTGA others(273): Show CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCAC TTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGAC CACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCC GTGACCACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	246	0.0041	280	c.-15 others(291): Show c.-1589_-1588insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTG CTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTG TGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCGTGA others(273): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCGTGACCACACA CTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCAC TTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGAC CACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTG AGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCC GTGACCACACACTAGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0009 a0001c0010t0001g0009	1	246	0.0041	280	c.-16 others(291): Show c.-1625_-1624insTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTG CTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGT GTGGTCACGGGGTGAGAAGTGCTCGCTGTAAATGAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687281	G G	AGCGGTGA others(273): Show AGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTC CCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGC ACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGG TGAGCACTTCCCACCCCGTGACCACACACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	246	0.0041	280	c.-16 others(291): Show c.-1677_-1676insAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC CAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACG GGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTC ACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCT	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1435		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687370	C C	CCCCGTGA others(273): Show CCCCGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCA TTTACAGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCAC TTCCCACCCCGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGAC CACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCG AGCACTTCCCACCCCGTGACCACGCACTGGCGGTGAGCACTTCCCACCCC GTGACCACTCATTTACAGCGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	246	0.0041	280	c.-17 others(291): Show c.-1767_-1766insTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGGGTGGGAAGTG CTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGA GTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1525		chr8	TogoVar
ATG2B_chr14_96274195_96368341	96340095	C C	CTATATAT others(273): Show CTATATATCATATATGATATATATGAATATATATATCATATATGATATAT ATGAATATATATATCATATATGATATATATGAATATATATATCATATATG ATATATATGAATATATATATCATATATGATATATATGAATATATATATCA TATATGATATATATGAATATATATATCATATATGATATATATGAATATAT ATATCATATATGATATATATGAATATATATATCATATATGATATATATGA ATATATATATCATATATGATATATATGAATA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18959.hp2 NA18612.hp2 NA18959.hp2	a0003 a0025 a0003 a0025	a0003c0004 a0025c0021 a0003c0004 a0025c0021	a0003c0004t0004 a0025c0021t0004 a0003c0004t0004 a0025c0021t0004	a0003c0004t0004g0028 a0025c0021t0004g0026 a0003c0004t0004g0028 a0025c0021t0004g0026	2	356	0.0056	280	c.924 others(297): Show c.924+1426_924+1427insTATTCATATATATCATATATGATATATA TATTCATATATATCATATATGATATATATATTCATATATATCATATATGA TATATATATTCATATATATCATATATGATATATATATTCATATATATCAT ATATGATATATATATTCATATATATCATATATGATATATATATTCATATA TATCATATATGATATATATATTCATATATATCATATATGATATATATATT CATATATATCATATATGATATATATATTCATATATATCATATATGATATA TA	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96340103	A A	AATATATG others(273): Show AATATATGATATATATGAATATATATATCATATATGATATATATGAATAT ATATATCATATATGATATATATGAATATATATATCATATATGATATATAT GAATATATATATCATATATGATATATATGAATATATATATCATATATGAT ATATATGAATATATATATCATATATGATATATATGAATATATATATCATA TATGATATATATGAATATATATATCATATATGATATATATGAATATATAT ATCATATATGATATATATGAATATATATATC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0004 a0011c0016t0004	a0011c0016t0004g0077 a0011c0016t0004g0077	1	356	0.0028	280	c.924 others(297): Show c.924+1418_924+1419insGATATATATATTCATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATATTCATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATATTCATATATATCATATATGATATATATA TTCATATATATCATATATGATATATATATTCATATATATCATATATGATA TATATATTCATATATATCATATATGATATATATATTCATATATATCATAT AT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG5_chr6_106179476_106330760	106251647	G G	GGGAGGGA others(273): Show GGGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGAG GGAGGAGGGGGAGGGGGAGAGGGAGAGAGGGAGGGGGGAGAGGGAGGGAG GGAGAGAGGGAGAGGGAGAGGGAGGGGGAGAGAGGGAGGGAGGGTAAGAG AGGGAGAGAGGGAGGGGGAGAGGGAGGGAGGGAGAGAGAGGGGAGAGAGG GAGGGGGGAGAAAGGAGGGGGAGGGGGAGAGAGGGAGGGTGGGGGAGGGA GGGAGGGGGAGGGAGGGAGGGAGGGGGGAGA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	358	0.0028	280	c.479 others(297): Show c.479-3404_479-3403insTCTCCCCCCTCCCTCCCTCCCTCCCCCT CCCTCCCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCC CTCCCTCTCTCCCCTCTCTCTCCCTCCCTCCCTCTCCCCCTCCCTCTCTC CCTCTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCTCTCCCTCTC TCCCTCCCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCCCTCCCCCTCC TCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCCCTCCCTCCCTCCCTCCCT CC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATP10B_chr5_160558120_160857211	160653985	A A	AATATATG others(273): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACTATATATG TTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATAC AACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGT ATATACGTATATACAACATAAATATATGTTGTATATACGTATATACATAT ATAAATATATGTTGTATATACGTATATACAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0173 a0001c0001t0008g0173	1	236	0.0042	280	c.676 others(297): Show c.676-4730_676-4729insATGTATATACGTATATACAACATATATT TATATATGTATATACGTATATACAACATATATTTATGTTGTATATACGTA TATACAACATATATTTATGTTGTATATACGTATATACAACATATATTTAT GTTGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATA CAACATATATAGTATATACGTATATACAACATATATTTATATATGTATAT ACGTATATACAACATATATTTATATATGTATATACGTATATACAACATAT AT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(273): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTC CCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCC CCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTAC CCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0177 a0003c0007t0005g0177	1	254	0.0039	280	c.39+ others(297): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCAC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCAC CCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCCCCA CCCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCC CC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25731246	A A	AAGGAAGG others(273): Show AAGGAAGGAAGGAAGGAAGCGGGAGGAAGAAAAAGAAAGAAAGAGAGAAA GAGAAAGAAGAAAGAAGGAAAGAGAGAGAGAGAGGAAGGAAGGAAGGAAG CGGGAGGAAGAAAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAAGACCGG AAGGAGAGAGAAAGAGAGAAAGGGAAAGAAGAAAGAAGGAAAGAGAGAGA GAGGAAGGAAGGAAGGAAGGAAGCGGGAGGAAGAAAAAGAAAAGAGAGAA AGAGAAAGAAGAAAGAAGGAAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0002 a0001c0005t0023g0002	1	122	0.0082	280	c.238 others(301): Show c.2384+31948_2384+31949insAAGAGAAAGAAGAAAGAAGGAAAG AGAGAGAGAGAGGAAGGAAGGAAGGAAGCGGGAGGAAGAAAAAGAAAGAA AGAGAGAGAGAAAGAAAGAAAAGACCGGAAGGAGAGAGAAAGAGAGAAAG GGAAAGAAGAAAGAAGGAAAGAGAGAGAGAGGAAGGAAGGAAGGAAGGAA GCGGGAGGAAGAAAAAGAAAAGAGAGAAAGAGAAAGAAGAAAGAAGGAAA GAGAGAGAGAGGAAGGAAGGAAGGAAGCGGGAGGAAGAAAAAGAAAGAAA GAGAGA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGTGCA others(273): Show TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	280	c.36 others(291): Show c.3604_*3605insGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(273): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18980.hp2 NA18999.hp2 others(3): Show NA18961.hp2 NA18980.hp2 NA18999.hp2 NA19010.hp1 NA19056.hp1 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	6	391	0.0154	280	c.36 others(291): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(273): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	391	0.0026	280	c.36 others(291): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
BCHE_chr3_165767904_165842423	165797242	T T	TCCCCCCT others(273): Show TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCC CCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC TCCCTCCCCCCTCCCTTCTTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCC TTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCC TTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0032 a0005c0004t0004g0032	1	304	0.0033	280	c.151 others(301): Show c.1518-10932_1518-10931insGGAAGGAAGGAAGGAAGGAAGGGA GGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAGGGAG GAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAAGAAGGGAGGGG GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAAGGGA GGGGGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCL11A_chr2_60452194_60558654	60468025	A A	AGTGATGG others(273): Show AGTGATGGTGGTAGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAG TGATGGTGGTGGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGATG GTGGTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGT GGTGGTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGC TGGTGGTCATGGTACTTTGTGGTGATGGTGATGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTAGTGATAATGGTGGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp2 HG01884.hp1 others(14): Show HG00140.hp2 HG01515.hp2 HG01884.hp1 HG02055.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03490.hp1 HG03491.hp1 HG03710.hp1 HG04184.hp1 NA18906.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0002t0017 a0004c0007t0012	a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 others(14): Show a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0002g0136 a0001c0001t0003g0168 a0001c0001t0003g0189 a0001c0001t0004g0070 a0001c0001t0004g0076 a0001c0001t0004g0081 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0012g0217 a0001c0001t0014g0006 a0001c0001t0016g0254 a0001c0001t0016g0257 a0001c0002t0017g0011 a0004c0007t0012g0214	17	262	0.0649	280	c.487 others(295): Show c.487+706_487+707insCACCACCATTATCACTACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACAAAGTACCATGACCACC AGCACCATCACTACCACCACCACCACCATCACCACCACCACCATTACCAC CACCATCACTACCACCACCACCATCACCACCAGTACCATCACCACCACCA CCATCACTACCACCACCACCACCACCACCACCACCATTACCACCACCATC ACTACCACCACCACCATCACCACCAGTACCATCACCACTACCACCATCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BRSK2_chr11_1384934_1467689	1431769	G G	GTCTGGTC others(273): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTACCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0049 a0002c0002t0049	a0002c0002t0049g0117 a0002c0002t0049g0117	1	360	0.0028	280	c.92- others(295): Show c.92-4271_92-4270insTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTACCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431769	G G	GTCTGGTC others(273): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0255 a0002c0002t0023g0255	1	360	0.0028	280	c.92- others(295): Show c.92-4271_92-4270insTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432243	G G	GTCTGGTC others(273): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	360	0.0028	280	c.92- others(295): Show c.92-3797_92-3796insTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
C10orf90_chr10_126419997_126675693	126672434	G G	GCAGGACT others(273): Show GCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACC CCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCA GCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGG TCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAG GACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGA GACCAGGACTGGTCATCAGCTACCCCGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	218	0.0046	280	c.-22 others(291): Show c.-2234_-1955dupGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCG GGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG GTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCA GTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGA TGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGT AGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		1742		chr10	TogoVar
C10orf90_chr10_126419997_126675693	126672826	C C	CCAGGACT others(273): Show CCAGGACTGGTCGTCAGCTACCCCGAGACCAGGACTGGTCGTCAGCTACC CCGAGACCAGGACTGGTCGTCAGCTACCCCGAGACCAGGACTGGTCGTCA GCTACCCCGAGACCAGGACTGGTCGTCAGCTACCCCGAGACCAGGACTGG TCGTCAGCTACCCCGAGACCAGGACTGGTCGTCAGCTACCCCGAGACCAG GACTGGTCGTCAGCTACCCCGAGACCAGGACTGGTCGTCAGCTACCCCGA GACCAGGACTGGTCGTCAGCTACCCCGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0006 a0008c0015t0006	a0008c0015t0006g0157 a0008c0015t0006g0157	1	218	0.0046	280	c.-23 others(291): Show c.-2347_-2346insTTCTCGGGGTAGCTGACGACCAGTCCTGGTCTCG GGGTAGCTGACGACCAGTCCTGGTCTCGGGGTAGCTGACGACCAGTCCTG GTCTCGGGGTAGCTGACGACCAGTCCTGGTCTCGGGGTAGCTGACGACCA GTCCTGGTCTCGGGGTAGCTGACGACCAGTCCTGGTCTCGGGGTAGCTGA CGACCAGTCCTGGTCTCGGGGTAGCTGACGACCAGTCCTGGTCTCGGGGT AGCTGACGACCAGTCCTGGTCTCGGGGTAGCTGACGACCAGTCCTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		2134		chr10	TogoVar
C4orf19_chr4_37448925_37598510	37585358	G G	GAGGAGGG others(273): Show GAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTG TTGAGGGAGGGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAG GTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGA GAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGG GGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGGAGAGGAGAGGTGTTGAGGGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0322 a0002c0002t0004g0322	1	354	0.0028	280	c.-22 others(297): Show c.-22-3488_-22-3487insAGGAGGGGAGAGGAGAGGTGTTGAGGGA GAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGAGGAGAGGTGTTGAG GGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAG GTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGA GAGGAGAGGTGTTGAGGGAGGGGAGAGGAGAGGTGTTGAGGGAAGGGAGG GGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGG AA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3			chr4	TogoVar
C7orf50_chr7_992006_1143247	1117141	C C	CTCTACGG others(273): Show CTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCA CTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATG ACATCACTGCAGCTCTACGGACCGGCTTCCAGCACCGACGCCCACGCAGG ATGATGACATCACTGCAGCTCTACGGACCGGCTTCCAGCACCGACGCCCA CGCAGGATGATGACATCACTGCAGTTCTACGGACCGGCTTCCATCACCGA CGCCCACGCAGGATGATGACATCACTGCAGT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0154 a0001c0001t0008g0154	1	326	0.0031	280	c.129 others(299): Show c.129+10115_129+10116insACTGCAGTGATGTCATCATCCTGCGT GGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTGCAGTGATGTCATCATC CTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTAGAGCTGCAGTGATGTC ATCATCCTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTAGAGCTGCAGT GATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGC TGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCG TAGA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1117365	C C	CTCTACGG others(273): Show CTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCA CTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATG ACATCACTGCAGTTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGG ATGATGACATCACTACAGTTCTACGGACCGGCTTCCATCACTGACGCCCA CGCAGGATGATGACATCACTGCAGTTCTACGGACCGGCTTCCATCACTGA CGCCCACGCAGGATGATGACATCACTACAGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0305 a0001c0001t0005g0305	1	326	0.0031	280	c.129 others(297): Show c.129+9891_129+9892insACTGTAGTGATGTCATCATCCTGCGTGG GCGTCAGTGATGGAAGCCGGTCCGTAGAACTGCAGTGATGTCATCATCCT GCGTGGGCGTCAGTGATGGAAGCCGGTCCGTAGAACTGTAGTGATGTCAT CATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTGCAGTGA TGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTG CAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTA GA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(273): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTC TTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0229 a0001c0002t0007g0229	1	236	0.0042	280	c.482 others(297): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTC CTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCC TCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTT CC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(273): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTC TTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01934.hp1 HG01975.hp2 others(3): Show HG01255.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02273.hp1	a0001 a0004 a0019 a0001 a0004 a0019	a0001c0002 a0004c0007 a0019c0061 a0001c0002 a0004c0007 a0019c0061	a0001c0002t0002 a0001c0002t0014 a0004c0007t0023 others(1): Show a0001c0002t0002 a0001c0002t0014 a0004c0007t0023 a0019c0061t0002	a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0002g0235 others(3): Show a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0014g0226 a0004c0007t0023g0227 a0019c0061t0002g0225	6	236	0.0254	280	c.482 others(297): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTC CTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCC TCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTT CC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(273): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTC CTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTC TTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02257.hp2 HG04199.hp1 others(1): Show HG02080.hp2 HG02257.hp2 HG04199.hp1 NA18982.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0058 a0001c0001 a0001c0002 a0004c0058	a0001c0001t0050 a0001c0002t0007 a0004c0058t0040 a0001c0001t0050 a0001c0002t0007 a0004c0058t0040	a0001c0001t0050g0153 a0001c0002t0007g0196 a0001c0002t0007g0218 others(1): Show a0001c0001t0050g0153 a0001c0002t0007g0196 a0001c0002t0007g0218 a0004c0058t0040g0182	4	236	0.0170	280	c.482 others(297): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTC CTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCC TCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTT CC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(273): Show GAAGGGGGAGGAAGGGGGAGGAAGTGGGAGGAAGGGGGAGGAAATGGGAG GAAGGGGGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAA GGGGGGGGAAGGGGGAGGAAGGGGGAGGAAGTGGGAGGAAATGGGAGGAA GGGGGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGG GGGGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGA AGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0167 a0002c0003t0003g0167	1	234	0.0043	280	c.207 others(297): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC CCCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCC CCCTTCCTCCCATTTCCTCCCACTTCCTCCCCCTTCCTCCCCCTTCCCCC CCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCCC TTCCTCCCATTTCCTCCCCCTTCCTCCCACTTCCTCCCCCTTCCTCCCCC TT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CALY_chr10_133319072_133341896	133333743	T T	TGGAAGGC others(273): Show TGGAAGGCTCTGAGGCGGGATAGGATCTGTGGACAGAAGGATCTGAGGGT GAAAGGATCTGAAAGGGGAAGGATCTGAGGGGAAAGCGCCTGAGGAGGGA AGGACCCGAGGGGGAAAAATCTGAGGGCGGAATGATCTGAGAGTGGAAGG CTCTGAACGGGGAAGGATCTGAGGAGGATCAGAAGGGTAAGGATCTGATG GTGGAAGGATCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTGAGGGGG GAAGGCTCTGAGGGGGGAAGGATCTGAGGGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	250	0.0040	280	c.-21 others(297): Show c.-21+3090_-21+3091insCCCCTCAGATCCTTCCCCCCTCAGAGCC TTCCCCCCTCAGATCCTTCTCCCTCATGTCCTTCCCCCCTCAGATCCTTC CACCATCAGATCCTTACCCTTCTGATCCTCCTCAGATCCTTCCCCGTTCA GAGCCTTCCACTCTCAGATCATTCCGCCCTCAGATTTTTCCCCCTCGGGT CCTTCCCTCCTCAGGCGCTTTCCCCTCAGATCCTTCCCCTTTCAGATCCT TTCACCCTCAGATCCTTCTGTCCACAGATCCTATCCCGCCTCAGAGCCTT CC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CALY_chr10_133319072_133341896	133333743	T T	TGGAAGGC others(273): Show TGGAAGGCTCTGAGGCGGGATAGGATCTGTGGACAGAAGGATCTGAGGGT GAAAGGATCTGAAAGGGGAAGGATCTGAGGGGAAAGCGCCTGAGGAGGGA AGGACCTGAGGGGGAAAAATCTGAGGGCGGAATGATCTGAGAGTGGAAGG CTCTGAACGGGGAAGGATCTGAGGAGGATCAGAAGGGTAAGGATCTGATG GTGGAAGGATCTGAGGGGGGAAGGACATGAAGGAGAAGGATCTGAGGGGG GAAGGCTCTGAGGGGGGAAGGATCTGAGGGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01175.hp2 others(32): Show HG01069.hp1 HG01071.hp1 HG01175.hp2 HG01257.hp2 HG01891.hp2 HG02109.hp2 HG02132.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp2 HG03654.hp2 HG03710.hp1 HG06807.hp1 NA18944.hp2 NA18971.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0002c0002t0003 a0005c0006t0003	a0001c0001t0001g0038 a0001c0001t0002g0023 a0001c0001t0002g0024 others(24): Show a0001c0001t0001g0038 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0086 a0001c0001t0003g0022 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0064 a0001c0001t0005g0025 a0001c0001t0005g0068 a0001c0001t0008g0027 a0001c0001t0019g0066 a0002c0002t0003g0009 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0146 a0002c0002t0003g0172 a0002c0002t0003g0173 a0005c0006t0003g0147	35	250	0.1400	280	c.-21 others(297): Show c.-21+3090_-21+3091insCCCCTCAGATCCTTCCCCCCTCAGAGCC TTCCCCCCTCAGATCCTTCTCCTTCATGTCCTTCCCCCCTCAGATCCTTC CACCATCAGATCCTTACCCTTCTGATCCTCCTCAGATCCTTCCCCGTTCA GAGCCTTCCACTCTCAGATCATTCCGCCCTCAGATTTTTCCCCCTCAGGT CCTTCCCTCCTCAGGCGCTTTCCCCTCAGATCCTTCCCCTTTCAGATCCT TTCACCCTCAGATCCTTCTGTCCACAGATCCTATCCCGCCTCAGAGCCTT CC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CALY_chr10_133319072_133341896	133333743	T T	TGGAAGGC others(273): Show TGGAAGGCTCTGAGGCGGGATAGGATCTGTGGACAGAAGGATCTGAGGGT GAAAGGATCTGAAAGGGGAAGGATCTGAGGGGAAAGCGCCTGAGGAGGGA AGGACCTGAGGGGGAAAAATCTGAGGGCGGAATGATCTGAGAGTGGAAGG CTCTGAACGGGGAAGGATCTGAGGAGGATCAGAAGGGTAAGGATCTGATG GTGGAAGGATCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTGAGGGGG GAAGGCTCTGAGGGGGGAAGGATCTGAGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(67): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01243.hp1 HG01257.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02148.hp2 HG02293.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02922.hp2 HG03017.hp1 HG03209.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03688.hp1 HG03831.hp1 HG04204.hp2 HG04228.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18950.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18983.hp1 NA18998.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0007 a0001c0001 a0003c0003 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0022 a0003c0003t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0003g0117 a0001c0001t0003g0124 a0001c0001t0003g0130 a0001c0001t0007g0118 a0001c0001t0007g0125 a0001c0001t0007g0145 a0001c0001t0009g0084 a0001c0001t0009g0168 a0001c0001t0009g0169 a0001c0001t0010g0133 a0001c0001t0010g0134 a0001c0001t0010g0135 a0001c0001t0011g0116 a0001c0001t0011g0131 a0001c0001t0016g0129 a0001c0001t0022g0126 a0003c0003t0001g0062 a0004c0007t0001g0123	70	250	0.2800	280	c.-21 others(297): Show c.-21+3090_-21+3091insCCCCTCAGATCCTTCCCCCCTCAGAGCC TTCCCCCCTCAGATCCTTCTCCCTCATGTCCTTCCCCCCTCAGATCCTTC CACCATCAGATCCTTACCCTTCTGATCCTCCTCAGATCCTTCCCCGTTCA GAGCCTTCCACTCTCAGATCATTCCGCCCTCAGATTTTTCCCCCTCAGGT CCTTCCCTCCTCAGGCGCTTTCCCCTCAGATCCTTCCCCTTTCAGATCCT TTCACCCTCAGATCCTTCTGTCCACAGATCCTATCCCGCCTCAGAGCCTT CC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(273): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGAAGGGGAGGGGAGTGGG GGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGA GGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGGAAGGGGAGGGGAGTGG GGGAGGGGAGTGGGGAGGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGG AGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	340	0.0029	280	c.104 others(299): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCCTCCCCACTCCC CTCCCCCACTCCCCTCCCCTTCCCCCCCACTCCCCTCCCCTTCCCCCCAC TCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCC TTCCCCCCACTCCCCTCCCCTTCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(273): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGAGGGGAGTGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGA GGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	340	0.0029	280	c.104 others(299): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCC CTCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(273): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGAGGGGAGTGGGGACGGGAGTGGGGGGGAAGGGGAGGGGAGTGGGGGG AGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	340	0.0029	280	c.104 others(299): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCCACTCCCGTCCCCACTCCC CTCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(273): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTG GGGGAGGGGAGTGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGG AGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	340	0.0029	280	c.104 others(299): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(273): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGG GAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTG GGGGAGGGGAGTGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGG AGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0199 a0002c0005t0001g0199	1	340	0.0029	280	c.104 others(299): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCCACTCCCCTCCCCT TCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN15_chr16_522712_559636	550700	G G	GGTCGGTG others(273): Show GGTCGGTGAGGGTCCCCTGCCGGTGAGGGTCCCCGGTCGGTGAGGGCGCC CCGTCAGTGAGGGTCCCGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCC GGTCGGTGAGGGCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGG TCGGTGAGGGCCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGT CGGTGAGGGCCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGT CGGTGAGGGCCCCGGTCGGTGAGGGTCCCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0083	1	410	0.0024	280	c.206 others(297): Show c.2067-584_2067-583insCCGGTGAGGGTCCCCGGTCGGTGAGGGC GCCCCGTCAGTGAGGGTCCCGGTCAGTGAGGGCCCCGGTCGGTGAGGGTC CCCGGTCGGTGAGGGCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACC CGGTCGGTGAGGGCCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCC GGTCGGTGAGGGCCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCC GGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCC TG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	550762	C C	CCCTGCCG others(273): Show CCCTGCCGGTGAGGGTCCCCGGTCGGTGAGGGGCGCCCCGTCAGTGAGGG TCCCGGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGG CCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCC CCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCC CCGGTCGGTGAGGGTCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCC CGGTCGGTGAGGGCCCCGGTCGGTGAGGGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0015 a0015	a0015c0090 a0015c0090	a0015c0090t0026 a0015c0090t0026	a0015c0090t0026g0091 a0015c0090t0026g0091	1	410	0.0024	280	c.206 others(297): Show c.2067-538_2067-537insTGCCGGTGAGGGTCCCCGGTCGGTGAGG GGCGCCCCGTCAGTGAGGGTCCCGGGTCAGTGAGGGCCCCGGTCGGTGAG GGTCCCCGGTCGGTGAGGGCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGG GACCCGGTCGGTGAGGGCCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGG GCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCTGTCGGTGAGGGT CCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTG CC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	550768	C C	CCGGTGAG others(273): Show CCGGTGAGGGTCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGG TCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCGGT CGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCCCTGTC GGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCG GTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCG GTGAGGGCCCCGGTCGGTGAGGGTGCCCCGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0216 a0001c0001t0025g0216	1	410	0.0024	280	c.206 others(297): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGG GCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGC CCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGC CCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGT CCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGAGGGTC CC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	550768	C C	CCGGTGAG others(273): Show CCGGTGAGGGTCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGG TCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGT CGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCCCTGTC GGTGAGGGCCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCG GTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCG GTGAGGGCCCCGGTCGGTGAGGGTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0271 a0001c0002t0002g0272	2	410	0.0049	280	c.206 others(297): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGG GCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGC CCCCTGTCGGTGAGGGCCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGC CCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGT CCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGAGGGTC CC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar

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