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
BRSK2_chr11_1384934_1467689	1396166	G G	GCGTCCCC others(173): Show GCGTCCCCCGCTCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCCACTCC TGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCC TTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCC CCCACTCCTGGTCCCTCTTCCCTTCCACCCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0157 a0002c0002t0008g0157	1	360	0.0028	180	c.91+ others(195): Show c.91+5928_91+5929insCCACCCACGTCCCCCACTCCTGGTCCCTCT TCCCTTCCACCCACGTCCCCCGCTCCTCGTCTCTCTTCCCTTCCACCCAC GTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTG GTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396175	G G	GCTCCTGG others(173): Show GCTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTC TTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCA CGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCT GGTCCCTCTTCCCTTCCACCCACGTCCCCCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02647.hp1 NA20805.hp1 HG01255.hp2 HG02647.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0048 a0001c0001t0068 a0001c0001t0043 a0001c0001t0048 a0001c0001t0068	a0001c0001t0043g0050 a0001c0001t0048g0342 a0001c0001t0068g0243 a0001c0001t0043g0050 a0001c0001t0048g0342 a0001c0001t0068g0243	3	360	0.0083	180	c.91+ others(195): Show c.91+5805_91+5806insGGTCCCTCTTCCCTTCCACCCACGTCCCCC ACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTC TTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCA CGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396185	T T	TCTCTTCC others(173): Show TCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCAC TCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTT CCCTTCCACCCACGTCCCCCACTCCTGGTCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01891.hp1 HG03209.hp1 others(5): Show HG00621.hp2 HG01891.hp1 HG03209.hp1 HG03453.hp2 HG03704.hp2 NA18612.hp2 NA19002.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0002c0002t0002 a0002c0002t0049	a0001c0001t0001g0154 a0001c0001t0003g0230 a0001c0001t0003g0287 others(5): Show a0001c0001t0001g0154 a0001c0001t0003g0230 a0001c0001t0003g0287 a0001c0001t0004g0090 a0001c0001t0009g0153 a0002c0002t0002g0015 a0002c0002t0002g0152 a0002c0002t0049g0117	8	360	0.0222	180	c.91+ others(195): Show c.91+5928_91+5929insCCACCCACGTCCCCCACTCCTGGTCCCTCT TCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCAC GTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTG GTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396185	T T	TCTCTTCC others(173): Show TCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCAC TCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCGCTCCTGGTCCCTCTT CCCTTCCACCCACGTCCCCCACTCCTGGTCC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	360	0.0028	180	c.91+ others(195): Show c.91+5928_91+5929insCCACCCACGTCCCCCGCTCCTGGTCCCTCT TCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCAC GTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTG GTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396185	T T	TCTCTTCC others(173): Show TCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCGCTCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCCAC TCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTT CCCTTCCACCCACGTCCCCCACTCCTGGTCC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0103	1	360	0.0028	180	c.91+ others(195): Show c.91+5871_91+5872insGCTCCTCGTCTCTCTTCCCTTCCACCCACG TCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGG TCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTC CACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396221	C C	CCTCTTCC others(173): Show CCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCGC TCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCCGCTCCTCGTCTCTCTT CCCTTCCACCCACGTCCCCCGCTCCTCGTCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0208 a0002c0002t0016g0208	1	360	0.0028	180	c.91+ others(195): Show c.91+5928_91+5929insCCACCCACGTCCCCCGCTCCTCGTCTCTCT TCCCTTCCACCCACGTCCCCCGCTCCTCGTCTCTCTTCCCTTCCACCCAC GTCCCCCGCTCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCCACTCCTG GTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C1orf159_chr1_1076823_1121089	1077210	C C	CGGGGAGG others(173): Show CGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG CCGGGAGGCTGAGGCTATGGGGACTCCGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA19074.hp2 NA18983.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0205 a0001c0001t0001g0078 a0001c0001t0001g0205	2	326	0.0061	180	c.56 others(191): Show c.5682_*5683insCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCAC GGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGC CTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCA TAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4612		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077336	G G	GGCTGAGT others(173): Show GGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTC CGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCT ACGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGA CGCTGAGGCTACGGGGACTCCGTGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	326	0.0031	180	c.55 others(191): Show c.5556_*5557insGTCCCCCCACGGAGTCCCCGTAGCCTCAGCGTCC CCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCGCACGGAGTCCCCGTAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAG TCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGACTCAGC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4486		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077361	C C	CGGGAGGC others(173): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 NA18971.hp1 HG01081.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0204 a0001c0001t0001g0043 a0001c0001t0001g0204	2	326	0.0061	180	c.55 others(191): Show c.5531_*5532insCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4461		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077840	C C	CCGGGAGG others(173): Show CCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGTGGCTGAGGCTATGGGGACTCCGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	326	0.0031	180	c.50 others(191): Show c.5052_*5053insCCACGGAGTCCCCATAGCCTCAGCCACCCCCCAC GGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGC CACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCA TAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3982		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077845	A A	AGGCTGAG others(173): Show AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	326	0.0031	180	c.50 others(191): Show c.5047_*5048insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3977		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077875	A A	AGGCTGAG others(173): Show AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA19091.hp2 NA18960.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0197 a0001c0001t0001g0007 a0001c0001t0001g0197	2	326	0.0061	180	c.50 others(191): Show c.5017_*5018insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3947		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078175	A A	AGGCTGAG others(173): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	326	0.0031	180	c.47 others(191): Show c.4717_*4718insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3647		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078205	A A	AGGCTGAG others(173): Show AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 NA18612.hp2 NA18975.hp1 others(1): Show HG00609.hp1 NA18612.hp2 NA18975.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0163 a0001c0001t0001g0168	4	326	0.0123	180	c.46 others(191): Show c.4687_*4688insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3617		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078475	A A	AGGCTGAG others(173): Show AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	326	0.0031	180	c.44 others(191): Show c.4417_*4418insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3347		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078475	A A	AGGCTGAG others(173): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGATGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGG AGGCTGAGGCTATGGGGACTCCGTGCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	326	0.0031	180	c.44 others(191): Show c.4417_*4418insACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCC CGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCATCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3347		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078475	A A	AGGCTGAG others(173): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	326	0.0031	180	c.44 others(191): Show c.4417_*4418insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3347		chr1	TogoVar
C20orf96_chr20_265863_295750	278930	C C	CGGAGGGA others(173): Show CGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGG GACGGAGGGCGGGAGGGCGGGACGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0180 a0002c0006t0001g0180	1	410	0.0024	180	c.465 others(195): Show c.465+241_465+242insCTCCCTCCGTCCCGCCCTCCCGCCCTCCGT CCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCT CCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	278962	G G	GGGAGGGA others(173): Show GGGAGGGAGGGACGGAGGGAGGAAGGGCGGGACGGAGGGAGGGAGGGCGG GAGGGACGGAGGGCGGGACGGCGGGAGGAGGGCGGGACGGAGGGACGGAG GGAGGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGG GAGGGAGGGACGGAGGGAGGAAGGGCGGGAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0295 a0001c0003t0001g0295	1	410	0.0024	180	c.465 others(195): Show c.465+209_465+210insGTCCCGCCCTTCCTCCCTCCGTCCCTCCCT CCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCCTC CCTCCGTCCCTCCGTCCCGCCCTCCTCCCGCCGTCCCGCCCTCCGTCCCT CCCGCCCTCCCTCCCTCCGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C7orf50_chr7_992006_1143247	1060001	T T	TTAGTGGG others(173): Show TTAGTGGGGCGGGTCTGTAGTGGGGCGGGTCCGTAGTGAGGCGGGTCTTA GTGAGGCGGGTCTTAGTGAGGCGGGTCTTAGTGGGGCGGGTCCGTAATGA GGCGGGTCTTAGGCAGGCCCGTAGTGGGGCGGGTCTTAGTGGGGCGGGTC TTAGTGGGGCGGGTCTGTAGTGGGGCGGGTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	326	0.0031	180	c.130 others(199): Show c.130-49859_130-49858insGACCCGCCCCACTACAGACCCGCCCC ACTAAGACCCGCCCCACTAAGACCCGCCCCACTACGGGCCTGCCTAAGAC CCGCCTCATTACGGACCCGCCCCACTAAGACCCGCCTCACTAAGACCCGC CTCACTAAGACCCGCCTCACTACGGACCCGCCCCACTACAGACCCGCCCC ACTA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(173): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTC TCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCT CTCTCTCTCTCTCTCTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0019 a0019	a0019c0090 a0019c0090	a0019c0090t0007 a0019c0090t0007	a0019c0090t0007g0162 a0019c0090t0007g0162	1	218	0.0046	180	c.573 others(199): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAGAGAGAGAGAGA GAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAG AAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA AGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(173): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTCTT TCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCT CTCTCTCTCTCTCTCTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0010 a0010	a0010c0107 a0010c0107	a0010c0107t0021 a0010c0107t0021	a0010c0107t0021g0004 a0010c0107t0021g0004	1	218	0.0046	180	c.573 others(199): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAGAGAGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA AGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(173): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTT TCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCT CTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG02723.hp1 HG02258.hp1 HG02630.hp1 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0001c0034 a0002c0101 a0001c0006 a0001c0034 a0002c0101	a0001c0006t0008 a0001c0034t0001 a0002c0101t0006 a0001c0006t0008 a0001c0034t0001 a0002c0101t0006	a0001c0006t0008g0217 a0001c0034t0001g0072 a0002c0101t0006g0150 a0001c0006t0008g0217 a0001c0034t0001g0072 a0002c0101t0006g0150	3	218	0.0138	180	c.573 others(199): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA AGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221234	C C	CTTTCTTT others(173): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTT CTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTTCT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	218	0.0046	180	c.573 others(199): Show c.5731+3432_5731+3433insAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2546321	C C	CTGCAGTA others(173): Show CTGCAGTAGCTGGTGTCTTCACACTATTCCCTGCAGTAGCTGGTGTCTTC ACACTATTCTGTGCAGTAGCTGGTGTCTTCACACTATTCCTTGCAGTAGC TGATGTCTTCACACTATTCTGTGCAGTAGCTGGTGTCTTCACACTATTCT GTGCAGTAGCTGGTGTCTTCACACTATTCTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01496.hp1 HG01496.hp2 others(37): Show HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp2 HG02572.hp1 HG02647.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG04115.hp2 NA18906.hp2 NA18966.hp1 NA19003.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0015 a0001c0017 a0001c0021 a0001c0025 a0001c0032 a0001c0036 a0001c0038 a0002c0013 a0003c0027 a0004c0034 a0004c0039 a0006c0028	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(32): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0024 a0001c0001t0028 a0001c0001t0043 a0001c0002t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0018 a0001c0003t0040 a0001c0004t0004 a0001c0004t0036 a0001c0005t0002 a0001c0006t0001 a0001c0006t0003 a0001c0007t0005 a0001c0015t0034 a0001c0017t0006 a0001c0021t0027 a0001c0025t0007 a0001c0032t0031 a0001c0036t0007 a0001c0038t0041 a0002c0013t0035 a0003c0027t0011 a0004c0034t0009 a0004c0039t0009 a0006c0028t0006	a0001c0001t0002g0027 a0001c0001t0004g0005 a0001c0001t0004g0038 others(37): Show a0001c0001t0002g0027 a0001c0001t0004g0005 a0001c0001t0004g0038 a0001c0001t0005g0015 a0001c0001t0005g0097 a0001c0001t0013g0024 a0001c0001t0015g0034 a0001c0001t0017g0004 a0001c0001t0024g0080 a0001c0001t0028g0081 a0001c0001t0043g0032 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0003t0002g0045 a0001c0003t0005g0031 a0001c0003t0008g0057 a0001c0003t0008g0059 a0001c0003t0009g0085 a0001c0003t0010g0019 a0001c0003t0018g0068 a0001c0003t0040g0011 a0001c0004t0004g0086 a0001c0004t0036g0099 a0001c0005t0002g0090 a0001c0006t0001g0033 a0001c0006t0001g0102 a0001c0006t0003g0069 a0001c0007t0005g0002 a0001c0015t0034g0075 a0001c0017t0006g0006 a0001c0021t0027g0087 a0001c0025t0007g0012 a0001c0032t0031g0103 a0001c0036t0007g0100 a0001c0038t0041g0047 a0002c0013t0035g0035 a0003c0027t0011g0013 a0004c0034t0009g0041 a0004c0039t0009g0040 a0006c0028t0006g0072	40	104	0.3846	180	c.139 others(199): Show c.1391-3593_1391-3592insCTGCAGTAGCTGGTGTCTTCACACTA TTCTGTGCAGTAGCTGGTGTCTTCACACTATTCCTTGCAGTAGCTGATGT CTTCACACTATTCTGTGCAGTAGCTGGTGTCTTCACACTATTCTGTGCAG TAGCTGGTGTCTTCACACTATTCTGTGCAGTAGCTGGTGTCTTCACACTA TTCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA2D1_chr7_81941444_82448777	82060168	A A	ATATATAT others(173): Show ATATATATAATATATATATATATTATATATATAATATATATATAATACAT ATATATATTATATATATATTATATATATATAATATATATATAATATATAT ATATTATATATATAATATATATATAATATATATATATTATATATATAATA TATATATAATATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19007.hp1 NA19066.hp2 NA18986.hp2 NA19007.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0007 a0001c0001t0005g0123 a0001c0001t0006g0121 a0001c0001t0003g0007 a0001c0001t0005g0123 a0001c0001t0006g0121	3	144	0.0208	180	c.879 others(195): Show c.879+259_879+260insATATATATATATTATATATATATTATATAT ATATTATATATATAATATATATATATTATATATATATTATATATATAATA TATATATATTATATATATATTATATATATATAATATATATATAATATATA TATGTATTATATATATATTATATATATAATATATATATATATTATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82173631	T T	TAAAATAC others(173): Show TAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp1 HG03195.hp2 others(2): Show HG02886.hp1 HG03130.hp1 HG03195.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0007g0059 others(2): Show a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0007g0059 a0001c0001t0007g0081 a0001c0001t0007g0084	5	144	0.0347	180	c.295 others(197): Show c.295-3023_295-3022insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(173): Show TATATACATATATACGCGTATATATATGTATATACATATATACGCGTATA TATATGTATATACATATATACGCGTATATATATGTATAGACATATATATA CGCGTATATATATGTATATACATATATATACGCGTATATATATGTATATA CATATATATACGCGTATATATATGTCTATAC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	164	0.0061	180	c.125 others(199): Show c.125-88284_125-88283insGTATAGACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATATGTATATACATATATAT ACGCGTATATATATGTCTATACATATATATACGCGTATATATGTATATAC ATATATATACGCGTATATATGTATATACATATATATACGCGTATATATGT ATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(173): Show TATATACATATATACGCGTATATATATGTATATACATATATACGCGTATA TATATGTATATACATATATACGCGTATATATATGTATATACATATATATA CGCGTATATATATGTATATACATATATATACGCGTATATATATGTATATA CATATATATACGCGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0146 a0001c0001t0010g0146	1	164	0.0061	180	c.125 others(199): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATATGTATATACATATATAT ACGCGTATATATATGTATATACATATATATACGCGTATATATGTATATAC ATATATATACGCGTATATATGTATATACATATATATACGCGTATATATGT ATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115328713	T T	TATACGCG others(173): Show TATACGCGTATATATATGTATATACATATATACGCGTATATATATGTATA TACATATATACGCGTATATATATGTATATACATATATACGCGTATATATA TGTATATACATATATATACGCGTATATATATGTATATACATATATATACG CGTATATATATGTATATACATATATATACGC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0134 a0001c0001t0054g0134	1	164	0.0061	180	c.125 others(199): Show c.125-88294_125-88293insGCGTATATATATGTATATACATATAT ATACGCGTATATATATGTATATACATATATATACGCGTATATATATGTAT ATACATATATATACGCGTATATATGTATATACATATATATACGCGTATAT ATGTATATACATATATATACGCGTATATATGTATATACATATATATACGC GTAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CALCOCO2_chr17_48826035_48870245	48858026	A A	ATAGAATA others(173): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAGTAGACTAGAGTAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	328	0.0031	180	c.100 others(199): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAGTAGACTAGAGTAGAGTAGAATAGAATAGAAT AGAA	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(173): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0037 a0002c0003t0001g0037	1	328	0.0031	180	c.100 others(199): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(173): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATATACACACATATATGTATGTG TATATATACACACACATATACACACACGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA20129.hp1 HG03195.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0028 a0002c0002t0001g0003 a0001c0001t0004g0028 a0002c0002t0001g0003	2	262	0.0076	180	c.218 others(195): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAT ACACACATATATGTATGTGTATATATACACACACATATACACACACGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(173): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTG TATATATACACACACATATACACACATGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03195.hp2 HG02280.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0005 a0001c0001t0014g0008 a0001c0001t0005g0005 a0001c0001t0014g0008	2	262	0.0076	180	c.218 others(195): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAC ACACACATATATGTGTGTGTATATATACACACACATATACACACATGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACATACA others(173): Show CACATACATATATGTGTGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATATACACACATATATGTATGTG TATATATACACACACATATACACACATGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0095 a0001c0001t0013g0095	1	262	0.0038	180	c.218 others(195): Show c.218+721_218+722insACATACATATATGTGTGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAT ACACACATATATGTATGTGTATATATACACACACATATACACACATGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CAMK4_chr5_111219384_111499886	111450625	T T	TAAAAATA others(173): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAG CTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	246	0.0041	180	c.625 others(197): Show c.625+1428_625+1429insACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATGTGTGT others(173): Show ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGT GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	366	0.0027	180	c.645 others(197): Show c.645+1167_645+1168insGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTAT GTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGT ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGT GT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816963	T T	TGTGTATG others(173): Show TGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACG CGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACA CGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACA CACGCGTGTGTATGTGTGTACACACACACGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	366	0.0027	180	c.645 others(197): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTATGT GT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGC others(173): Show GTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGT GTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGC GTGTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACAC GCGTGTGTATGTGCGTACACACACACGCGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp2 HG03540.hp1 others(1): Show HG00408.hp2 HG00673.hp2 HG03540.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0285 a0001c0001t0001g0301 others(1): Show a0001c0001t0001g0200 a0001c0001t0001g0285 a0001c0001t0001g0301 a0001c0001t0001g0310	4	366	0.0109	180	c.645 others(197): Show c.645+1328_645+1329insCGTACACACACACGCGTGTGTATGTGCG TACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTG CGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATG TGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTATATG TG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGT others(173): Show GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACAC GCGTGTGTATGTGTGTACACACACACGCGTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02738.hp1 NA18939.hp1 others(3): Show HG01496.hp1 HG02738.hp1 NA18939.hp1 NA18947.hp1 NA18967.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0206 a0001c0001t0001g0237 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0206 a0001c0001t0001g0237 a0001c0001t0001g0265 a0001c0001t0001g0335	6	366	0.0164	180	c.645 others(197): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTATATGT GT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN15_chr16_522712_559636	544797	T T	TCTCCCCC others(173): Show TCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCA CCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCATGTCGTCGCCTC CCCCACGTCGTCGCCTCCCCCACGTCGTCGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0003 a0001c0052t0003	a0001c0052t0003g0025 a0001c0052t0003g0025	1	410	0.0024	180	c.-22 others(197): Show c.-22-1999_-22-1998insCACGTCGCCTCCCCCCACGTCGCCTCCA CCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCATGTCGTCGCCTC CCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCC CC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN5_chr11_77061971_77131155	77098068	C C	CTCCCGGA others(173): Show CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCCACCTCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01192.hp1 HG03927.hp1 others(1): Show HG00597.hp2 HG01192.hp1 HG03927.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0048 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0048 a0004c0005t0004	a0001c0001t0001g0077 a0001c0001t0007g0284 a0001c0001t0048g0267 others(1): Show a0001c0001t0001g0077 a0001c0001t0007g0284 a0001c0001t0048g0267 a0004c0005t0004g0029	4	382	0.0105	180	c.297 others(197): Show c.297+4280_297+4281insAGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGG GC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098068	C C	CTCCCGGA others(173): Show CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGGCTGACCCCCCCCACCTCCT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	382	0.0026	180	c.297 others(197): Show c.297+4280_297+4281insAGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGG GC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098068	C C	CTCCCGGA others(173): Show CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCACCTCCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0003 a0009c0008t0003	a0009c0008t0003g0019 a0009c0008t0003g0019	1	382	0.0026	180	c.297 others(197): Show c.297+4280_297+4281insAGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGG GC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098093	C C	CAGGGGGC others(173): Show CAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCAC CTCCTTCCCGGACGGGGCGGCTGGCCGGGCG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	382	0.0026	180	c.297 others(197): Show c.297+4280_297+4281insAGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGG CG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12			chr11	TogoVar
CAPN5_chr11_77061971_77131155	77098103	A A	ACCCCCCC others(173): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCTTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	382	0.0026	180	c.297 others(197): Show c.297+4324_297+4325insCAGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CASQ2_chr1_115695021_115773714	115761488	G G	GGGAAGGG others(173): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	364	0.0028	180	c.234 others(197): Show c.234+6819_234+6820insTCTTCTTCTTCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCT CCTTCTTCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761488	G G	GGGAAGGG others(173): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGA GGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp1 HG02258.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0061 a0001c0001t0015g0054 a0001c0001t0004g0061 a0001c0001t0015g0054	2	364	0.0055	180	c.234 others(197): Show c.234+6819_234+6820insTCTTCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCT TCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(173): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCTCCTCCTCCTCCC ACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCT CCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	410	0.0024	180	c.-22 others(191): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882384	G G	GGGGAGAA others(173): Show GGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGCGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	288	0.0035	180	c.303 others(199): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTC TCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar

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