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
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TCCCCTCC others(882): Show TCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTC CCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCC CCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCC TTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTG CCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCC CCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTC CTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGC CCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCC CCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCC TGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCC CCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCT CCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCT GCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCCC CTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGCCCCCCTCCCCT CCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCC TCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACC CCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCT CCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0167 a0001c0001t0006g0167	1	124	0.0081	889	c.65 others(900): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGGCAG GAGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAG GGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGAGGGC AGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAG GGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCAGGAGG GGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGG AGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGA GGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGG GAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA AGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGA GGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGG GGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCA GGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGG AGGGG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(882): Show CGCCCCCACAGCCGCCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAG CCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCC GCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGTCACCCCCCCACAG CCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCA CAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCGCCC CCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACC CCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCC GCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACA GCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCC CCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCCACAGC CACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0283 a0002c0002t0002g0283	1	5	0.2000	889	c.-41 others(904): Show c.-41+629_-41+630insCCCCACAGCCGCCCCCCCCACAGCCGCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACA GCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCC CCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGC CGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGTCACCCCCCCACA GCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCC ACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCGCC CCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCAC CCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGC CGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCC CCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCCACAG CCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACA GCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGTCG others(882): Show GGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATG GGGGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCG ACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGT CGGGGGAATCTGCAGAGATGGGGGACGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAA TCTGCAGAGGTGGGGGCCGGGGGAATCTGCAGAGATGGGGCGACGGGGGA ATCTGCAGAGATGGGGGCGACGGGGGAATCTGCAGAGATGGGGCGACGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	304	0.0033	889	c.-22 others(900): Show c.-2261_-2260insGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGGACGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATC TGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGACGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCCGGGGGAATCTGCAGAGA TGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGACGGGGGAATCTGCAG AGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(882): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCTTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCT CCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCC CTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTC CTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC CTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCCC CTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCC CTCTCCTCCCCTCCCCGCCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCC CACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	125	0.0080	889	c.-49 others(900): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGCGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCAGAGGAGA GGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGG GAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAG GAGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAG AGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(882): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCT CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCT CCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCT CCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTC CTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC CTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCC CTCCCCTCTCCTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCC CTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCC CTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCC CACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0172	1	125	0.0080	889	c.-49 others(900): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGG GAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGG GAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAG AGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(882): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCT CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCT CCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCT CCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTC CTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC CTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCC CTCCCCTCTCCTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCC CTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCC CTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCC CACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	125	0.0080	889	c.-49 others(900): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGG GAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGG GAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAG AGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MGMT_chr10_129462241_129775983	129518568	C C	CCCTCCCC others(882): Show CCCTCCCCCTCCTCCCCTCCCTTCCCCTCCCCCTCCTCCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTGCCCCCTCCCTCCTCCCCTGCCCCCTCC CCCTCCTCCCTCCCTCCCCCCTCCCCCCTCCTCCCCTCCCTTCCCCCTCC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCCC TCCCCCTCCTCTTCTTTCACCTCCCCTCCTCTTCCTTCACCTCCCCCTCC CCCCAATCACCTCCCCCTCCCCCCCGCTCACCTCCCCCTCCCCCCACTCC TCCCCCTCTCACTCCTCCCCCTCCCTCCTCCCCCTGCCCTTCCCCTCCTC CTCCCCCTCCTCCCCCTCTCCCTCTCTCTGTCTTCCCCCCTCCCCCTCCC CTTTTCCCCCTCCCCCTCCCCTCCCCCTTCCCCCTCCCCTTCCCCTCCCC CTTCCCCTCCCCCTTCCCCCTCCCCTCCCCTCCCCTTCCCCCTCCCCTCC CCTCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTC CCCCTTCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCTTCCCCCTCC CCCCTCCCCCCTTCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTACTCT CCCCTTCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTCCCCTCCCCC CCTCTCCCTCACCCTCACCCTCCCCCTTCTCCTCCCCCTCCCCCCTCTCC ATCCCCCCTCCCCCCTCCCCCTTCTCCTCCCCTCCTCCTCCTTCCCGTCT CCCTCCCCATCTCCATCCCCCTCCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	3	0.3333	889	c.-12 others(908): Show c.-12-17662_-12-17661insTCCCCTCCCTTCCCCTCCCCCTCCTC CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTGCCCCCTCCCTCCTCC CCTGCCCCCTCCCCCTCCTCCCTCCCTCCCCCCTCCCCCCTCCTCCCCTC CCTTCCCCCTCCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCT CCCTCCCCCCCCTCCCCCTCCTCTTCTTTCACCTCCCCTCCTCTTCCTTC ACCTCCCCCTCCCCCCAATCACCTCCCCCTCCCCCCCGCTCACCTCCCCC TCCCCCCACTCCTCCCCCTCTCACTCCTCCCCCTCCCTCCTCCCCCTGCC CTTCCCCTCCTCCTCCCCCTCCTCCCCCTCTCCCTCTCTCTGTCTTCCCC CCTCCCCCTCCCCTTTTCCCCCTCCCCCTCCCCTCCCCCTTCCCCCTCCC CTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCCTCCCCTTC CCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTC CCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCC CCTTCCCCCTCCCCCCTCCCCCCTTCCCCTTCCCCCTCCCCCTTCCCCCT CCCCCTTACTCTCCCCTTCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCC CTCCCCTCCCCCCCTCTCCCTCACCCTCACCCTCCCCCTTCTCCTCCCCC TCCCCCCTCTCCATCCCCCCTCCCCCCTCCCCCTTCTCCTCCCCTCCTCC TCCTTCCCGTCTCCCTCCCCATCTCCATCCCCCTCCCCCTCCTCCTCCTC CTCCTCCCCCTCC	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(882): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGG GGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGG GGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGG GGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGG GGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAGGGGACGGGAGGGGAGGGG AGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGA GGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGG GGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGG GAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGG AGGGAGGGGAGGGGAGTGGAGGGGGAGGGAGGAGGGAGGGGAGTGGAGGG GGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGA GGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTG GAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAG GGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	8	0.1250	889	c.250 others(904): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCC CTCCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCC TCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCATCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCGTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTC ACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCT TCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCG CCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCC GCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCC TTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(882): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGG GGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGG GGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGG GGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGG GGAGGAGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGGAGGGGGAGGGGGGGAGAGGGGGGGAGGGGGAGGGGAGGGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGG GAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGGGG AGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGA GGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGGGA GGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAG GGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGG AGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGA GGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTG GAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAG GGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	8	0.1250	889	c.250 others(904): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCC ACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCT CCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTC CCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTC CCCCTCCCCTCCCCCCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCC CCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCTCCCCCCCTCCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC TCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTC ACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCT TCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCG CCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCC GCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCC TTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSR1_chr8_16102881_16197651	16189475	A A	ATATAAAA others(882): Show ATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTA TATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATAT AAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATA TGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAA TCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTT TTATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTT ATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTAT ATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTT TATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATAT ATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATA TATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATATAA AATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATG TTTTATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATC TTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTT ATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTAT TTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATAT ATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTA TATATGTTTTATATATATAAAATCTTATTTTATATATGTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0061 a0003c0004t0001g0061	1	263	0.0038	889	c.-5+ others(904): Show c.-5+3122_-5+3123insAACATATATAAAATAAGATTTTATATATAT AAAACATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAA GATTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAA CATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATT TTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAACATA TATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTAT ATATATAAAACATATATAAAATAAGATTTTATATATATAAAACATATATA AAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTATATAT ATAAAACATATATAAAATAAGATTTTATATATATAAAACATATATAAAAT AAGATTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAA AACATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGA TTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAACA TATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTT ATATATATAAAACATATATAAAATAAGATTTTATATATATAAAACATATA TAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTATAT ATATAAAACATATATAAAATAAGATTTTATATATATAAAACATATATAAA ATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTATATATAT AAAACATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAA GATTTTATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(882): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTT ATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATA TATATAAAATCTTATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATA TATATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGA TTTTATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTA TATATATATAAAATAAGATTTTATATATATATATAAAATAAGATTTTATA TATATTTTATATATATAAAATAAGATTTTATATATATATATAAAATAAGA TTTTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATA AGATTTTATATATATAAAATATATATAAAATCTTATTTTATATATATTTT ATATATATATAAAATCTTATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	242	0.0041	889	c.-5+ others(904): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATTTTATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATTTT ATATATATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATAT ATATATAAAATCTTATTTTATATATATATATAAAATCTTATTTTATATAT ATAAAATATATATAAAATCTTATTTTATATATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAA ATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATAT ATATATAAAATATATATAAAGTAAGATTTCATATATATAAAATATAAAGT AAGATTTTATATATATATAAAATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATAAAAAATATATATCAAATATATATAAAATAAGATTTTATATATA TATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NXN_chr17_794310_984776	841420	C C	CGCATCTC others(882): Show CGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACAC GGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACGCCGGCGAGCAGG TCCCCCCGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACC ACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTC ACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACGGGCGAGC AGGTCCTCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCTCCCGA CCATGGAGCATCTCACACGGGCGAGCAGGTCCTCCCTGACCACGGCGCAT CTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGC GAGCAGGTCCCCCCTGACCATGGAGCATCTCACACGGGCGAGCAGGTCCT CCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCTCCCTGACCACG GCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCAC ACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCA GGTCCTCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTG ACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCA TCTCACACGGGCGAGCAGGTCCTCCCTGACCACGGCGCATCTCACACGGG CGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCC CCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCGACCACG GAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	209	0.0048	889	c.361 others(908): Show c.361-15343_361-15342insTCCGTGGTCGGGGGGACCTGCTCGCC CGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGCGGGTGTGAGATGC GCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAG GGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGAGGACCTGC TCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTG AGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGT GGTCAGGGAGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGG ACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCC CGTGTGAGATGCGCCGTGGTCAGGGAGGACCTGCTCGCCCGTGTGAGATG CGCCGTGGTCAGGGAGGACCTGCTCGCCCGTGTGAGATGCTCCATGGTCA GGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGAGGACCTGCTCGCCCGTGT GAGATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCTCCAT GGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCTCCATGGTCGGGAGGAC CTGCTCGCGGGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGT GTGAGATGCGCTGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTC TGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGC GGGTGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841603	C C	CTGACCAC others(882): Show CTGACCACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGAG CATCTCACACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTCACACG GGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGT CCCCCCTGACCACAGCGCATCTCATGCCGGCGAGCAGGTCCCCCCTGACC ACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCT CACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAG CAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCT GACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCA TCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGG CGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCC CCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACG GAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCAC ACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAG GTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGAC CACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATC TCATGCCGGCAAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGG GCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCC TGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	151	0.0066	889	c.361 others(908): Show c.361-15526_361-15525insAGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGG TCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCT GCTTGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGG ACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCC CGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATG CGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAG GGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGC TCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGA GATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACC TGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGT GTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCATGAGATGCGC TGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGG GGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTT GCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGA TGCTCCGTGGTCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841628	A A	AAGCAGGT others(882): Show AAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCC CCCTGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGG CGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACA CGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAG GTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGAC CACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATC TCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCACG GGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCC CTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGC GCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACGC CGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGT CCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACC ACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTC ACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGC AGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCT GACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCA TCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGC GAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0202 a0001c0001t0006g0202	1	13	0.0769	889	c.361 others(908): Show c.361-15551_361-15550insCGCCCGTGTGAGATGCTCCGTGGTCA GGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGC CCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGA GATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGAC CTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGT GTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTC CGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGG GGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCT GCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTG TGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCC GTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTG GACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATG CGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCA GGGTGGACCTGCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
RAB39B_chrX_155253235_155269491	155257645	T T	TTCCCTAG others(882): Show TTCCCTAGGATGAGGAAACTGCTTCCAACTCTTGGAAGCTGCTGGCTCCA GAACTTGATGAAGGTGAGCGAGCAATCCATGCAGATATCTCAGGAAAAAG AATTCCAGACAGAGGGAAAAGCAAATACAAAGTCCCTGAGGTGGGAATGT GCTTAAGTGTGTTTGAAGAACAGGAAAAGAACCCATGTAACTGGAGTAAA ATAAAGAGGGTTAGCAGTAGGAAATGAGGTTACAGAGGTGATGAGATGGA GATGGAATTTATTTCCAAGGGTTCTTCTGCAGGCCATTGGAAGGACTTTG GGTTTTAAGCTGAGTAAAATGTATAACCACTGGAAAATCATGAGTAGACG ATTGCTTATAACTAATGTTTTATCAGGCTCCTTCTGGCTGCTCTGTGGAG AATAAACTGCAAGCATGGCAGGGGTGGGGAAGGGGAGACGACAAGAGTGG CAGCAGGGAGACCAGCTGTCACAATAACTCAGAAAAATGATAGTGGACAG CACCAGTGTGTTAGCATTGAGAATGGTGAAAAGCTGTCATATTCTGGTTA TACTTTTAAGGTAGAGCCAGCATAATTTCCTGATAGATCAGATGTGGACT ATGAAAGAAAGGAGTCAAGGATGATACCAAGATTTTTGGCAAAGGTAGAT GAAAGGACAAAGTTGCCATTTACTGAGGAGGGGAAGACTATGAGAGGGAC ATATTTGGGGAGGAAGATTAGGAGCCTGATTTGGGACATGTTAAATTTGT GATGCCTGATAGACATTCAAGTGAGGATGTCAGGTAAACAGTTGGTTATA AAGGTCTGGAGTCCATGGGAAATAGACAAGTTGAAGATAAAAATTCGGGA CTCATTGACTTATAGATTTAATTTATAGCCATGGGACTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(164): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0005g0006 a0001c0001t0006g0008 a0001c0001t0007g0009 a0001c0001t0007g0026 a0001c0001t0009g0015 a0001c0001t0010g0025	167	285	0.5860	889	c.31 others(900): Show c.3157_*3158insTCAGTCCCATGGCTATAAATTAAATCTATAAGTC AATGAGTCCCGAATTTTTATCTTCAACTTGTCTATTTCCCATGGACTCCA GACCTTTATAACCAACTGTTTACCTGACATCCTCACTTGAATGTCTATCA GGCATCACAAATTTAACATGTCCCAAATCAGGCTCCTAATCTTCCTCCCC AAATATGTCCCTCTCATAGTCTTCCCCTCCTCAGTAAATGGCAACTTTGT CCTTTCATCTACCTTTGCCAAAAATCTTGGTATCATCCTTGACTCCTTTC TTTCATAGTCCACATCTGATCTATCAGGAAATTATGCTGGCTCTACCTTA AAAGTATAACCAGAATATGACAGCTTTTCACCATTCTCAATGCTAACACA CTGGTGCTGTCCACTATCATTTTTCTGAGTTATTGTGACAGCTGGTCTCC CTGCTGCCACTCTTGTCGTCTCCCCTTCCCCACCCCTGCCATGCTTGCAG TTTATTCTCCACAGAGCAGCCAGAAGGAGCCTGATAAAACATTAGTTATA AGCAATCGTCTACTCATGATTTTCCAGTGGTTATACATTTTACTCAGCTT AAAACCCAAAGTCCTTCCAATGGCCTGCAGAAGAACCCTTGGAAATAAAT TCCATCTCCATCTCATCACCTCTGTAACCTCATTTCCTACTGCTAACCCT CTTTATTTTACTCCAGTTACATGGGTTCTTTTCCTGTTCTTCAAACACAC TTAAGCACATTCCCACCTCAGGGACTTTGTATTTGCTTTTCCCTCTGTCT GGAATTCTTTTTCCTGAGATATCTGCATGGATTGCTCGCTCACCTTCATC AAGTTCTGGAGCCAGCAGCTTCCAAGAGTTGGAAGCAGTTTCCTCATCCT AGGGA	RAB39B	ENSG00000155961.5	transcript	ENST00000369454.4	protein_coding		589		chrX	TogoVar
RAB39B_chrX_155253235_155269491	155257645	T T	TTCCCTAG others(882): Show TTCCCTAGGATGAGGAAACTGCTTCCAACTCTTGGAAGCTGCTGGCTGCA GAACTTGATGAAGGTGAGCGAGCAATCCATGCAGATATCTCAGGAAAAAG AATTCCAGACAGAGGGAAAAGCAAATACAAAGTCCCTGAGGTGGGAATGT GCTTAAGTGTGTTTGAAGAACAGGAAAAGAACCCATGTAACTGGAGTAAA ATAAAGAGGGTTAGCAGTAGGAAATGAGGTTACAGAGGTGATGAGATGGA GATGGAATTTATTTCCAAGGGTTCTTCTGCAGGCCATTGGAAGGACTTTG GGTTTTAAGCTGAGTAAAATGTATAACCACTGGAAAATCATGAGTAGACG ATTGCTTATAACTAATGTTTTATCAGGCTCCTTCTGGCTGCTCTGTGGAG AATAAACTGCAAGCATGGCAGGGGTGGGGAAGGGGAGACGACAAGAGTGG CAGCAGGGAGACCAGCTGTCACAATAACTCAGAAAAATGATAGTGGACAG CACCAGTGTGTTAGCATTGAGAATGGTGAAAAGCTGTCATATTCTGGTTA TACTTTTAAGGTAGAGCCAGCATAATTTCCTGATAGATCAGATGTGGACT ATGAAAGAAAGGAGTCAAGGATGATACCAAGATTTTTGGCAAAGGTAGAT GAAAGGACAAAGTTGCCATTTACTGAGGAGGGGAAGACTATGAGAGGGAC ATATTTGGGGAGGAAGATTAGGAGCCTGATTTGGGACATGTTAAATTTGT GATGCCTGATAGACATTCAAGTGAGGATGTCAGGTAAACAGTTGGTTATA AAGGTCTGGAGTCCATGGGAAATAGACAAGTTGAAGATAAAAATTCGGGA CTCATTGACTTATAGATTTAATTTATAGCCATGGGACTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	1	119	0.0084	889	c.31 others(900): Show c.3157_*3158insTCAGTCCCATGGCTATAAATTAAATCTATAAGTC AATGAGTCCCGAATTTTTATCTTCAACTTGTCTATTTCCCATGGACTCCA GACCTTTATAACCAACTGTTTACCTGACATCCTCACTTGAATGTCTATCA GGCATCACAAATTTAACATGTCCCAAATCAGGCTCCTAATCTTCCTCCCC AAATATGTCCCTCTCATAGTCTTCCCCTCCTCAGTAAATGGCAACTTTGT CCTTTCATCTACCTTTGCCAAAAATCTTGGTATCATCCTTGACTCCTTTC TTTCATAGTCCACATCTGATCTATCAGGAAATTATGCTGGCTCTACCTTA AAAGTATAACCAGAATATGACAGCTTTTCACCATTCTCAATGCTAACACA CTGGTGCTGTCCACTATCATTTTTCTGAGTTATTGTGACAGCTGGTCTCC CTGCTGCCACTCTTGTCGTCTCCCCTTCCCCACCCCTGCCATGCTTGCAG TTTATTCTCCACAGAGCAGCCAGAAGGAGCCTGATAAAACATTAGTTATA AGCAATCGTCTACTCATGATTTTCCAGTGGTTATACATTTTACTCAGCTT AAAACCCAAAGTCCTTCCAATGGCCTGCAGAAGAACCCTTGGAAATAAAT TCCATCTCCATCTCATCACCTCTGTAACCTCATTTCCTACTGCTAACCCT CTTTATTTTACTCCAGTTACATGGGTTCTTTTCCTGTTCTTCAAACACAC TTAAGCACATTCCCACCTCAGGGACTTTGTATTTGCTTTTCCCTCTGTCT GGAATTCTTTTTCCTGAGATATCTGCATGGATTGCTCGCTCACCTTCATC AAGTTCTGCAGCCAGCAGCTTCCAAGAGTTGGAAGCAGTTTCCTCATCCT AGGGA	RAB39B	ENSG00000155961.5	transcript	ENST00000369454.4	protein_coding		589		chrX	TogoVar
RAB40B_chr17_82649973_82703698	82671976	C C	CACACCCT others(882): Show CACACCCTGTACTCACTGACACACCCCACCCCGTCACTCTAAAACACACA CACTCACACACCCTGTACCCACTGACACACCCCACCCCTGTAACTCTAAC ACACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCTGTAACTC TAACACACACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCCT GTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCC CACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTGA CACACCCCAACCCTGTAACCCTAACACACACAGTCACACATCCTGTACTC ACTGACACACTTCACCCTGTAACTCTAACACACTCACACGCTCTCTGTAC TGACACACCTCACCCCTGTAACTCTAACACACACTCACATGCTCCCTGTA CCCACTGACACAGCTCACCCCGTAACTCTAACACACACACTCACACCCTG TACTCACTGACACACCCCACCCCGTCACTCTAAAACACACACACTCACAC ACCCTGTACCCACTGACACACCTCACCCCTGTAACTCAAACCACACACAC ACCCTGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACACT CACACGCTCCCTGTACTCACTGACACAGCTCACCCCTGTAACTCTAACAC ACACACTCACACGCTCCCTGTACTCACTGACACACCCCACCCCTGTAACT CTAACACACACACTCACACGCTCCCTGTACCCACTGACACAGCTCACCCC TGTAACTCTAACACACACTCACACGCTCCCTGTACTCACTGACACACCCC ACCCGTGTAACTCTAACACACACACTCACACGCTCCCTGT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA20905.hp1 HG02735.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0295 a0001c0001t0024g0233 a0001c0001t0001g0295 a0001c0001t0024g0233	2	132	0.0152	889	c.143 others(906): Show c.143-7421_143-7420insACAGGGAGCGTGTGAGTGTGTGTGTTAG AGTTACACGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGT GTTAGAGTTACAGGGGTGAGCTGTGTCAGTGGGTACAGGGAGCGTGTGAG TGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGC GTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCAGTGAGTAC AGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAG TGAGTACAGGGTGTGTGTGTGGTTTGAGTTACAGGGGTGAGGTGTGTCAG TGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAGAGTGACGGGGTGGGGTG TGTCAGTGAGTACAGGGTGTGAGTGTGTGTGTTAGAGTTACGGGGTGAGC TGTGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACAGGGG TGAGGTGTGTCAGTACAGAGAGCGTGTGAGTGTGTTAGAGTTACAGGGTG AAGTGTGTCAGTGAGTACAGGATGTGTGACTGTGTGTGTTAGGGTTACAG GGTTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGTGTGTTAGA GTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGTG TGTTAGAGTTACAGGGGTGAGCTGTGTCAGTGGGTACAGGGAGCATGTGA GTGTGTGTGTTAGAGTTACAGGGTGAGCTGTGTCAGTGGGTACAGGGAGC ATGTGAGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGGGTACAG GGTGTGTGAGTGTGTGTGTTTTAGAGTGACGGGGTGGGGTGTGTCAGTGA GTACAGGGTGT	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RPH3AL_chr17_207389_357807	304099	A A	AGGGAGGG others(882): Show AGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGGGCAGTGACCGTG TCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAA TTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGC TGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGA GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GGGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTAC TGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGG GGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCG TGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAAT AATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAG GCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAA GAGATGGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGA CCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTT AATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	132	0.0076	889	c.351 others(908): Show c.351+15320_351+15321insCATCTCTTTCCTGAGACACGGTCACT GCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCT TTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCC TCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAA AACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTC ACTGCCCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATC TCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACA GCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGCTCAATAA TTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGA CACGGTCACTGCCCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCT CCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCT CAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTT CCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGG TCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA TCTCTTTCCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAGTA CAGCCTCCCTCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963694	C C	CGTCCCCT others(882): Show CGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTC CCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCT GTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCG CTGTGCGGCCGAGTCCTCACCCTGTCCCCTGTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCGCTGTGCGGCCGAGTCCTCACCCCGTC CCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCT CTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCGCTGTGCGGCCGAGTCCTCACCCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0031 a0001c0016t0031	a0001c0016t0031g0011 a0001c0016t0031g0011	1	193	0.0052	889	c.394 others(906): Show c.3940-561_3940-560insCTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCT CACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACC CCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGT CCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCC TCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTG CGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGC CCTCACCCCGTCCGCTGTGCGGCCGAGTCCTCACCCTGTCCCCTGTGCGG CCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCGCTGTGCGGCCGA GTCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCGCTGTGCGGCCGAGTCCTCA CCCTGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RYR1_chr19_38428691_38592564	38554325	A A	ACCTGTAA others(882): Show ACCTGTAATCTGAGCTGCTTGGGAGGCTGAGGCAGGAGAATCATTTGAAC CTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCATC CTGGACAACAAAAGTGAAAGTCCATCTCAAAAAACAAAGAAACAAAAACA ATTACTCTTGTTATACAATATTCTGTAAATCATGTGTGGTTCATCTCAGA GGATAAACTTCCAGAAGTGGGATAGCTGGGTTAAAAGGTAAATGCATTTG TCATTCGGACAGACATTGCCCTCCATTTTTCTTTCTCATTAATATCATAT GAGAGTGTGCCTGTCTCCCCACAGCCTCGCCACCAGACCGCACTGTCAAA TCTTTGGATTTTTGCCAATCTGATAGGTGAAAAACGGTATTGCAGTGTCG TTTAAATTTTTAATTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCA AAGTGGAGTGCAGTGGCGTAATCTCAGCTCATTGCAACCTCTGCCTAACG GGTTGAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGG CATGTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCC ACCCGCCTTGGCCTCCCAAAGTCCAGATGCTTTTTCTGCATTTCCATTCA TATGAAAATCTGCATTAAAAAAATGTAGCATTGTGGCCGGGCTCAGTGGC TCACGCCTGTAATCCCAGCACTCTGGGAGGCTGGGGCGGGCAGATCACTT GAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCGTTCCT GCTTCAAAATACAAAAATTACTTGGGCATGGTGGCATGCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0067 a0001c0003t0001g0067	1	212	0.0047	889	c.122 others(910): Show c.12282+5914_12282+5915insTGAGCTGCTTGGGAGGCTGAGGCA GGAGAATCATTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGC GCCATTGCACTCCATCCTGGACAACAAAAGTGAAAGTCCATCTCAAAAAA CAAAGAAACAAAAACAATTACTCTTGTTATACAATATTCTGTAAATCATG TGTGGTTCATCTCAGAGGATAAACTTCCAGAAGTGGGATAGCTGGGTTAA AAGGTAAATGCATTTGTCATTCGGACAGACATTGCCCTCCATTTTTCTTT CTCATTAATATCATATGAGAGTGTGCCTGTCTCCCCACAGCCTCGCCACC AGACCGCACTGTCAAATCTTTGGATTTTTGCCAATCTGATAGGTGAAAAA CGGTATTGCAGTGTCGTTTAAATTTTTAATTTTTTTTTTTGAGACAGAGT CTTGCTCTGTTGCCCAAAGTGGAGTGCAGTGGCGTAATCTCAGCTCATTG CAACCTCTGCCTAACGGGTTGAAGTGATTCTCATGCCTCAGCCTCCCGAG TAGCTGGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCC TGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTCCAGATGCTTTT TCTGCATTTCCATTCATATGAAAATCTGCATTAAAAAAATGTAGCATTGT GGCCGGGCTCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGG GGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAT GATGAAACCCGTTCCTGCTTCAAAATACAAAAATTACTTGGGCATGGTGG CATGCGCCTGTAATC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	89/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38554325	A A	ACCTGTAA others(882): Show ACCTGTAATCTGAGCTGCTTGGGAGGCTGAGGCAGGAGAATCATTTGAAC CTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCATC CTGGACAACAAAAGTGAAAGTCCATCTCAAAAAACAAAGAAACAAAAACA ATTACTCTTGTTATACAATATTCTGTAAATCATGTGTGGTTCATCTCAGA GGATAAACTTCCAGAAGTGGGATAGCTGGGTTAAAAGGTAAATGCATTTG TCATTCGGACAGACATTGCCCTCCATTTTTCTTTCTCATTAATATCATAT GAGAGTGTGCCTGTCTCCCCACAGCCTCGCCACCAGACCGCACTGTCAAA TCTTTGGATTTTTGCCAATCTGATAGGTGAAAAACGGTATTGCAGTGTCG TTTAAATTTTTAATTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCA AAGTGGAGTGCAGTGGCGTAATCTCAGCTCATTGCAACCTCTGCCTAACG GGTTGAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGG CATGTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCC GCCCGCCTTGGCCTCCCAAAGTCCAGATGCTTTTTCTGCATTTCCATTCA TATGAAAATCTGCATTAAAAAAATGTAGCATTGTGGCCGGGCTCAGTGGC TCACGCCTGTAATCCCAGCACTCTGGGAGGCTGGGGCGGGCAGATCACTT GAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCGTTCCT GCTACAAAATACAAAAATTACTTGGGCATGGTGGCATGCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp1 HG03130.hp1 HG03209.hp1	a0001 a0021 a0001 a0021	a0001c0071 a0021c0086 a0001c0071 a0021c0086	a0001c0071t0001 a0021c0086t0001 a0001c0071t0001 a0021c0086t0001	a0001c0071t0001g0195 a0021c0086t0001g0015 a0001c0071t0001g0195 a0021c0086t0001g0015	2	213	0.0094	889	c.122 others(910): Show c.12282+5914_12282+5915insTGAGCTGCTTGGGAGGCTGAGGCA GGAGAATCATTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGC GCCATTGCACTCCATCCTGGACAACAAAAGTGAAAGTCCATCTCAAAAAA CAAAGAAACAAAAACAATTACTCTTGTTATACAATATTCTGTAAATCATG TGTGGTTCATCTCAGAGGATAAACTTCCAGAAGTGGGATAGCTGGGTTAA AAGGTAAATGCATTTGTCATTCGGACAGACATTGCCCTCCATTTTTCTTT CTCATTAATATCATATGAGAGTGTGCCTGTCTCCCCACAGCCTCGCCACC AGACCGCACTGTCAAATCTTTGGATTTTTGCCAATCTGATAGGTGAAAAA CGGTATTGCAGTGTCGTTTAAATTTTTAATTTTTTTTTTTGAGACAGAGT CTTGCTCTGTTGCCCAAAGTGGAGTGCAGTGGCGTAATCTCAGCTCATTG CAACCTCTGCCTAACGGGTTGAAGTGATTCTCATGCCTCAGCCTCCCGAG TAGCTGGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCC TGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTCCAGATGCTTTT TCTGCATTTCCATTCATATGAAAATCTGCATTAAAAAAATGTAGCATTGT GGCCGGGCTCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGG GGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAT GATGAAACCCGTTCCTGCTACAAAATACAAAAATTACTTGGGCATGGTGG CATGCGCCTGTAATC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	89/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38554325	A A	ACCTGTAA others(882): Show ACCTGTAATCTGAGCTGCTTGGGAGGCTGAGGCAGGAGAATCATTTGAAC CTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCATC CTGGACAACAAAAGTGAAAGTCCATCTCAAAAAACAAAGAAACAAAAACA ATTACTCTTGTTATACAATATTCTGTAAATCATGTGTGGTTCATCTCAGA GGATAAACTTCCAGAAGTGGGATAGCTGGGTTAAAAGGTAAATGCATTTG TCATTCGGACAGACATTGCCCTCCATTTTTCTTTCTCATTAATATCATAT GAGAGTGTGCCTGTCTCCCTACAGCCTCGCCACCAGACCGCACTGTCAAA TCTTTGGATTTTTGCCAATCTGATAGGTGAAAAACGGTATTGCAGTGTCG TTTAAATTTTTAATTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCA AAGTGGAGTGCAGTGGCGTAATCTCAGCTCATTGCAACCTCTGCCTAACG GGTTGAAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGG CATGTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCC ACCCGCCTTGGCCTCCCAAAGTCCAGATGCTTTTTCTGCATTTCCATTCA TATGAAAATCTGCATTAAAAAAATGTAGCATTGTGGCCGGGCTCAGTGGC TCACGCCTGTAATCCCAGCACTCTGGGAGGCTGGGGCGGGCAGATCACTT GAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCGTTCCT GCTACAAAATACAAAAATTACTTGGGCATGGTGGCATGCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0094 a0001c0094	a0001c0094t0001 a0001c0094t0001	a0001c0094t0001g0115 a0001c0094t0001g0115	1	212	0.0047	889	c.122 others(910): Show c.12282+5914_12282+5915insTGAGCTGCTTGGGAGGCTGAGGCA GGAGAATCATTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGC GCCATTGCACTCCATCCTGGACAACAAAAGTGAAAGTCCATCTCAAAAAA CAAAGAAACAAAAACAATTACTCTTGTTATACAATATTCTGTAAATCATG TGTGGTTCATCTCAGAGGATAAACTTCCAGAAGTGGGATAGCTGGGTTAA AAGGTAAATGCATTTGTCATTCGGACAGACATTGCCCTCCATTTTTCTTT CTCATTAATATCATATGAGAGTGTGCCTGTCTCCCTACAGCCTCGCCACC AGACCGCACTGTCAAATCTTTGGATTTTTGCCAATCTGATAGGTGAAAAA CGGTATTGCAGTGTCGTTTAAATTTTTAATTTTTTTTTTTGAGACAGAGT CTTGCTCTGTTGCCCAAAGTGGAGTGCAGTGGCGTAATCTCAGCTCATTG CAACCTCTGCCTAACGGGTTGAAGTGATTCTCATGCCTCAGCCTCCCGAG TAGCTGGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCC TGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTCCAGATGCTTTT TCTGCATTTCCATTCATATGAAAATCTGCATTAAAAAAATGTAGCATTGT GGCCGGGCTCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGG GGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAT GATGAAACCCGTTCCTGCTACAAAATACAAAAATTACTTGGGCATGGTGG CATGCGCCTGTAATC	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	89/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(882): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATTCCATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATATATATA TATATTCCATATATATATATTCCATATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	230	0.0043	889	c.115 others(906): Show c.115-2573_115-2572insGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC12A7_chr5_1045384_1117063	1072605	G G	GAGCCCCC others(882): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCC CCAGCACACGGCATCACACTTAACGCAGCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAACGCAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCC CAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGA GCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCA GCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCAGCACACGGGCATCA CACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0068 a0002c0008t0002g0068	1	99	0.0101	889	c.224 others(908): Show c.2241+1027_2241+1028insGCATAAGTGTGATGCCGTGTGCTGGG GGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTG GGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGCTCACTGGGGGCTCACT GGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTG CATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTG TGATGCCCGTGTGCTGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAG TGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGC CGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCAC TGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTG CATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGT GATGCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTG TGCTGGGGGCTCACTGGGGGCTGCGTTAAGTGTGATGCCCGTGTGCTGGG GGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACT GGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGCTGCA TAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCGTTAAGTGTG ATGCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTG TGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCG TGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC45A4_chr8_141202174_141313288	141203473	A A	AGAGGGGA others(882): Show AGAGGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGGGAGAGA GGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGGGGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGAGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGGAGAGAGGGGAGAGA GGGAGAGAGGGAGAGAGAGAGAGAGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGAGGGAGAGAGGGAGGAGAGGAGAGAGGAGAGAGGGAGAG AGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GAGAGAGGGAGAGAGAGAGAGGGAGAGGGAGAGAGGAGAGAGGGAGAGAG GGATGAGAGGGAGAGAGAGAGAGAGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGAGGGAGAGGGAGAGAGGAGAGTGAGGGAGAGAGGGAGAGAG GGAGAGGGGAGAGAGATGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACGTGGGAGAGAGAGAGAG AGAGGGAGAGAGGGAGAGAGGTGAGAGAGGGAGAGAGGGATGAGAGGGAG AGAGGGAGAGAGGGAGAGGGAGAGAGGGAGAGAGGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0089 a0001c0004t0006g0089	1	94	0.0106	889	c.80 others(900): Show c.8098_*8099insCCTCTCCTCTCTCCCTCTCTCCCTCTCCCTCTCT CCCTCTCTCCCTCTCATCCCTCTCTCCCTCTCTCACCTCTCTCCCTCTCT CCCTCTCTCTCTCTCTCTCCCACGTCTCCCTCTCCCTCTCTCCACGGTCT CTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCATCTCTCTCCC CTCTCCCTCTCTCCCTCTCTCCCTCACTCTCCTCTCTCCCTCTCCCTCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCTCTCTCTCTCTCCCTC TCATCCCTCTCTCCCTCTCTCCTCTCTCCCTCTCCCTCTCTCTCTCTCCC TCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCCC TCTCCTCTCTCCCTCTCTCCTCTCTCCTCTCCTCCCTCTCTCCCTCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCCTCTCCCTCTCTCC CTCTCTCCCTCTCTCCCTCTCTCCCCTCTCTCCCTCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCTCTCTCTCTCTCCCTC TCTCCCTCTCTCCCCTCTCTCCCCTCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCTCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCTCTCTCCCTCTCTCCCTCT CTCCCTCTCTCCCCTCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCT CTCTCCTCTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3700		chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(882): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCG CGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTG AGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGT GAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGG AGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCG GGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAG GGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGA GGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAG CGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGG TGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGG GTGAGGGGAGCGCGGGTGAGGGGTGAGGGGGAGCGCGGGTGAGGGGTGAG GGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGC GCGGGTGAAGTGTGAGGGGCGCGCGGGTGAAGAGTGAGGGGAGCGTGGGT GAGGGGTGAGGGGCGCGCCGGTGAAGGGTGAGGGGAGCGTGGGTGAGGGG TGAGGCGTGAGTGATGCGCGAGTGAAGGGTGAGGGGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0321 a0001c0001t0003g0321	1	283	0.0035	889	c.-12 others(900): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCCTCACCCCTCACCCGCGCTCC CCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCAC CCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCA CCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCG CTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCC TCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCC CTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACC CGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCT CCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTC ACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCT CACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCG CGCTCCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTC CCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCA CCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCTTC ACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(882): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATATTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATATTATATATTATAATATATAATA TATATTATATATTATAATATATAATATATATTACATATTATAATATATAA TATATATTATATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATATATATTATAATATATAATATATTATATTTTATATATATTATA AAATATAATATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0158	1	7	0.1429	889	c.17 others(908): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AATATATATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAAAATATAATATCTTATATAATATAAAATATAATATATTATATAT TATAAAATATATTATATTTTATAATATATAATATATTATATTTTATAATA TATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATTTTATAAAATATAAT ATATTATATTTTATATATATTATAAAATATAATATATTATATATTATAAT ATGTAATATATATTATATATTATAATATATAATATATATTATATATTATA ATATATAATATATATTATATATTATAATATGTAATATATATTATATATTA TAATATATAATATATATTATATATTATAATATATAATATATATTATATAT TATAAAATATAATATATATTACATATTATAAAATATAATATATTATATAT TATAAAATATAATATATATTACATATTATAAAATATAATATATTATATAT TATAAAATATAATATATTATATATTATAAAATATAATATATTATATATTA TAATATATAATATATTATATATTATAATATATAATATATTATATATTATA ATATATAATATATATTATATATTATAATATATAATATATATTATATATTA TAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(882): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAG GGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGG AGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAA AGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGG GAGGGGGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	3	0.3333	889	c.597 others(906): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCCCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTC CTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCC TCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCC TCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTT CCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTC CTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTT CCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(882): Show CAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGAT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGAC AGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGG TGGGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGA CAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGA GGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCA CGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGC TCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGC GGGAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAG AGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGG GGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACA GCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGG TGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGG ACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAG GGGGTGGAGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAG GGGACAGCAGAGCTCACGGGTGGGGCGGGAAGGGGACAGA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0059 a0002c0001t0015g0059	1	174	0.0057	889	c.299 others(906): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGT CCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGC TGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCT CTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCC GCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAG CTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTT CCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCC CTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMEM163_chr2_134450759_134724000	134608358	A A	AAGGACAG others(882): Show AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCTTGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTG GTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCG AGAACTGTACTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAA CTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAG GACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACC CCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGG TGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGA GAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAG GACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAAC TTTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTG GTGAAAAGGACAGACCCCAAGAACTGTGCTGGTGAAAAGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0059 a0001c0001t0006g0059	1	81	0.0123	889	c.323 others(908): Show c.323-56268_323-56267insCCTTTTCACCAGCACAGTTCTTGGGG TCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCAAAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGT TCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACC AGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGTACAGT TCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCT TTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTT CTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTC ACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGG TCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCAAGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TP53AIP1_chr11_128930370_128947871	128930556	C C	CTGGGGTT others(882): Show CTGGGGTTAGGAAGGCCGGGGTTAGGGAGGCCAAGAGTCAGGGAGGCCAG GGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGGTTAGGGAGGCCAGGG TTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGCCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCC GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGCCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGG AGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCCG GGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGT TAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGG CCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAG GGTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	434	0.0023	889	c.50 others(900): Show c.5034_*5035insCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCTTAA CCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCC TGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCC TCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCC CGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCC CAGCCTCCCTAACCCCGGGCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCT GGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCC AGCCTCCCTAACCCCGGGCTCCCTAACCCCGGCCTCCCTAACCCCAGCCT CCCTAACCCTGGCCTCCCTAACCCCCGGCCTCCCTAACCCCTGGCCTCCC TAACCCCTGGCCTCCCTGACTCTTGGCCTCCCTAACCCCGGCCTTCCTAA CCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4813		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(882): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATACTATATCATCATATGATGATATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0016 a0001c0002t0057g0016	1	98	0.0102	889	c.41- others(906): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATACTATATCATCATATGATGATATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870126	A A	ACACACCA others(882): Show ACACACCACACCCCATACACACCACACACCACACACACACCACAAACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCTACACACACCACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCTACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCATACACACCACACACCACACACACACCACAAACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACACCCTACACACCCCACACACACCACACCC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	290	0.0034	889	c.35 others(908): Show c.35+21398_*35+21399insCACACCCCATACACACCACACACCAC ACACACACCACAAACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCTACACACACCACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACCCT ACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCATACACACCACACACCACACAC ACACCACAAACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACCCTACACACCCCACACACA CCACACCCCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCN3_chr10_5359966_5379692	5370270	T T	TGTGTGTG others(882): Show TGTGTGTGTATGTGTGTGTGTATGGGTGTGTATATGTGTGTATGTGTGTG TATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTG TGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATGCGTGTGGG TATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGTATGCGTGTG TGTATATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTG TGTGTGTATCTGTGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTA TGTGTGTGTGTATCTGTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTG TGTATGTGTGTATATGTGTGTATATGTGTGTGTACGTGTGTGTGTGTATG TGTGTATGTGTGTGTATGTGTGTATGTGTGTATGTGTGTATGTGTGTGTA TGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTATATGCGTGTGTATG CGTGTGTGTATATGCGTGTGTATATATGCGTGTGTGTATGCGTGTGTATG CGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTG TATGCGTGTGTATGGGTGTGTGTATGTGTGTGTATGTGTGTGTGTATATG TGTGTATATGTGTGTGTATATGTGTGTATGTGTGTATATGTGTGCGTATA TGCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATATG CGTGTGTATGTGTGTATGTGTGTGTATATGATGTGAGTGTATATGCGTGT GTATATGCGTGTGTATATGCGTGTGTGTGTGTATGCGTGTGTATATGTGT GTGTACATGTGTGTGTGCGTGTGTGTGCGCGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0145 a0002c0002t0014g0145	1	455	0.0022	889	c.-6- others(904): Show c.-6-3445_-6-3444insGTGTGTGTATGTGTGTGTGTATGGGTGTGT ATATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGT ATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATAT GCGTGTGTATGCGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGC GTGTGTGTGTATGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGT GTGTATGTGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTATGTGTGTAT GTGTGTGTATATGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTGTGT ATGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGTGTATATGTGTGT GTACGTGTGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTATGTGTGT ATGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGT GTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATATATGCGT GTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGTATGTGTGTGTAT ATGCGTGTGTATGCGTGTGTATGCGTGTGTATGGGTGTGTGTATGTGTGT GTATGTGTGTGTGTATATGTGTGTATATGTGTGTGTATATGTGTGTATGT GTGTATATGTGTGCGTATATGCGTGTGTATATGCGTGTGTATGTGCGTGT GTATGTGCGTGTGTATATGCGTGTGTATGTGTGTATGTGTGTGTATATGA TGTGAGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTGTGTG TATGCGTGTGTATATGTGTGTGTACATGTGTGTGTGCGTGTGTGTGCGCG TGTGTGTGC	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UCN3_chr10_5359966_5379692	5370270	T T	TGTGTGTG others(882): Show TGTGTGTGTATGTGTGTGTGTATGGGTGTGTATATGTGTGTATGTGTGTG TATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGCG TGTGTATGCGTGTGTGTATATGCGTGTGTAAGCGTGTGGGTATATGCGTG TGTATGCGTGTGGGTATATGCGTGTGTGTGTATGCGTGTGTGTATATGTG TGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATC TGTGTGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTATGTGTGTG TGTATCTGTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTG TATATGTGTGTATATGTGTGTGTACGTGTGTGTGTGTATGTGTGTATGTG TGTGTATGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTG TATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTATATGCGTGTGTA TGCGTGTGTGTATATGCGTGTGTATATATGCGTGTGTGTATGCGTGTGTA TGCGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTG TGTATGCGTGTGTATGGGTGTGTGTATGTGTGTGTATGTGTGTGTGTATA TGTGTATATGTGTGTGTATATGTGTGTATGTGTGTATATGTGTGCGTATA TGCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATATG CGTGTGTATGTGTGTATGTGTGTGTATATGATGTGAGTGTATATGCGTGT GTATATGCGTGTGTATATGCGTGTGTGTGTGTATGCGTGTGTATATGTGT GTGTATATGTGTGTGTGCGTGTGTGTGCGCGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0122 a0002c0002t0003g0122	1	455	0.0022	889	c.-6- others(904): Show c.-6-3445_-6-3444insGTGTGTGTATGTGTGTGTGTATGGGTGTGT ATATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGT GTATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTAA GCGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGT ATGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGT GTGTATGTGTGTGTGTATCTGTGTGTGTGTGTATGTGTGTATGTGTGTGT ATATGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTGTGTATGTGTGT GTATGTGTGTGTATGTGTGTATATGTGTGTATATGTGTGTGTACGTGTGT GTGTGTATGTGTGTATGTGTGTGTATGTGTGTATGTGTGTATGTGTGTGT ATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGT GTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATATATGC GTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGTATGTGTGTGT ATATGCGTGTGTATGCGTGTGTATGCGTGTGTATGGGTGTGTGTATGTGT GTGTATGTGTGTGTGTATATGTGTATATGTGTGTGTATATGTGTGTATGT GTGTATATGTGTGCGTATATGCGTGTGTATATGCGTGTGTATGTGCGTGT GTATGTGCGTGTGTATATGCGTGTGTATGTGTGTATGTGTGTGTATATGA TGTGAGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTGTGTG TATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGCGTGTGTGTGCGCG TGTGTGTGC	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(882): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCT CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCT CCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCT CCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTC CTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC CTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCC CTCCCCTCTCCTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCC CTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCC CTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCC CACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0020 a0001c0005t0008g0020	1	2	0.5000	889	c.53 others(900): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGG GAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGG GAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAG AGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(882): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCT CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCT CCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCT CCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTC CTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC CTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCC CTCCCCTCTCCTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCC CTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCC CTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCC CACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	2	0.5000	889	c.53 others(900): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGG GAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGG GAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAG AGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TAAATATA others(883): Show TAAATATATAAATATTTATATATTTATAAATATATAAATATATAAATATT TATATATTTATAAATATATAAATATATAAATATTTATATATTTATAGATA AATATATAAATATTTATATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATA TATATATTTATATATTTATAGATAAATATATAAATATATAAATATTTATA GATAAATATATAAATATATAAATATTTATATATTTATCTATAAATATATA AATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGA TAAATATATAAATATTTATATATTTATCGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0128 a0001c0001t0017g0128	1	153	0.0065	890	c.130 others(909): Show c.1308+1324_1308+1325insTTATATATTTATCGATAAATATATAA ATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGAT AAATATATAAATATTTATATATTTATAGATAAATATATAAATATTTATAT ATTTATATATTTATCTATAAATATTTATATATTTATATATTTATCTATAA ATATATAAATATATATATATTTATATATTTATCTATAAATATATAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAT AAATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAT ATTTATAAATATATAAATATTTATATATTTATATATTTATAAATATATAA ATATTTATATATTT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1173269	A A	ACATCACC others(883): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACAT CACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCA CCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCA CCTCAGTCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAG CCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACC CCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCCCCACACATCACCTCAGCCCACCCAACACA TCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATC ACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCAC CTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCT CAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCC ACCCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACC CAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACAC ATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATCACC TCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTC CACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCA ACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACAT CACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0054 a0001c0003t0054	a0001c0003t0054g0232 a0001c0003t0054g0232	1	318	0.0031	890	c.61+ others(905): Show c.61+6397_61+6398insGGGGGGGTGGACTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTG AGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGA TGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGG GGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGG ACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAG GTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATG GGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGG GGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGG TGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTG GACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGTGGGCT GAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATG TGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTTGG GTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGG GTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGT GGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGC TGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173311	C C	CCACACAT others(883): Show CCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCC ACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCC ACACATCACCTCAGTCCACCCAACACATCACCTCAGCCCACCCAACACGT CACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTC AGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCC CCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCC CACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACA TCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCA CCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAG TCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACT CAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCC ATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACC TCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGTC CACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCA ACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACAT CACCTCAGCCCACCCCCCACACATCACCTCAGCCCACCCAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0217 a0001c0001t0019g0217	1	317	0.0032	890	c.61+ others(905): Show c.61+6355_61+6356insTTGGGTGGGCTGAGGTGATGTGTGGGGGGT GGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGA TGTGTTGAGTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGG GCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAG GTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG GGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGG GTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTG GACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGA GGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGA GGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGG TGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCG GGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGT GGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTG AGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTG AGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAG GTGATGTGTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ANO9_chr11_412938_447011	431600	C C	CGTGGGGG others(883): Show CGTGGGGGCTGTGGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGG TGTGGGGGCTCCCGTGGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGC GTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGG GTGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGC TCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGT ATCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGG GCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAG GGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGCTTCCGCGGGGGTGTGGGGGGCGTCCGCGGGTATCTGGG GGGGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTG CGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTG GGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCG CGGGTATCTGGGGGCGTCTGCAGGGGTGTGGGGGCTCCCGTGGGTATCTG GGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTC CGCGGGGGTGTGGGGGCACCCGCGGGTATCTGGGGGCGTCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	33	0.0303	890	c.539 others(903): Show c.539+93_539+94insAGACGCCCCCAGATACCCGCGGGTGCCCCCAC ACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAG ATGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCC AGATACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGC GGACGCCCCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCC ACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGC AGAAGCCCCCCCAGATACCCGCGGACGCCCCCCACACCCCCGCGGAAGCC CCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACC CACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCC CGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGACGCC CCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATA CCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGACG CCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCACACC CCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCGGAAG CCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAGCCCCCAGATA CCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCCACGGGA GCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCCACA GCCCCCAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431600	C C	CGTGGGGG others(883): Show CGTGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTG TGGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCC CGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGGCGTCTGCGGGTAT CTGGGGGCTTCCGCGGGGTGTGTGGGGGCTCCCGCGGGTATCTGGGGGCG TCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGGTGTAGGGGC TCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGT ATCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGG GCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAG GGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGGTGTGGGGGCTCCCGTG GGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGG GGGGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTG CGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTG GGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCG CGGGTATCTGGGGGCGTCTGCAGGGGTGTGGGGGCTCCCGTGGGTATCTG GGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTC CGCGGGGGTGTGGGGGCACCCGCGGGTATCTGGGGGCGTCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	33	0.0303	890	c.539 others(903): Show c.539+93_539+94insAGACGCCCCCAGATACCCGCGGGTGCCCCCAC ACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAG ATGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCC AGATACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGC GGACGCCCCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCC ACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGC AGAAGCCCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCC CCAGATACCCACGGGAGCCCCCACACCCCCCGCGGACGCCCCCAGATACC CACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCC CGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGACGCC CCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATA CCCGCGGGAGCCCCTACACCCCCCGCAGACGCCCCCAGATACCCGCGGAC GCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACACCCCGCGGA AGCCCCCAGATACCCGCAGACGCCCCCCACACCCCCGCGGAAGCCCCCAG ATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGG GAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCAC ACCCCCAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(883): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCC TCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGCCCCCCTCCCC TCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCC CTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTAC CCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCC TCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01257.hp2 NA20752.hp1 HG01168.hp2 HG01257.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0012 a0001c0002t0002 a0001c0002t0012	a0001c0002t0002g0007 a0001c0002t0002g0107 a0001c0002t0012g0143 a0001c0002t0002g0007 a0001c0002t0002g0107 a0001c0002t0012g0143	3	74	0.0405	890	c.273 others(907): Show c.2734+190_2734+191insCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCT CCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCC CCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCC CTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTC CTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTG CCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCC TCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCT TCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTG CCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGCCC CCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCT CCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCC CTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTC CTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCCT CCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(883): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCC TCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGCCCCCCTCCCC TCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGTCCC CTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTAC CCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCC TCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	72	0.0139	890	c.273 others(907): Show c.2734+190_2734+191insCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCT CCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCC CCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCC CTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTC CTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTG CCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCC TCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCT TCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTG CCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGCCC CCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCT CCTGTCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCC CTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTC CTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCCT CCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(883): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCC TGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCG TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA19091.hp1 NA18970.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0003 a0001c0001t0001g0001 a0001c0002t0001g0003	2	224	0.0089	890	c.36 others(901): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(883): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	223	0.0045	890	c.36 others(901): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCG ACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(883): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	223	0.0045	890	c.36 others(901): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCG ACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(883): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCATCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGT CCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCC CCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGC GTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	223	0.0045	890	c.36 others(901): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCATCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCC AGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCTG TCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGC CCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(883): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCG GAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0062 a0062	a0062c0122 a0062c0122	a0062c0122t0003 a0062c0122t0003	a0062c0122t0003g0326 a0062c0122t0003g0326	1	103	0.0097	890	c.300 others(907): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC77_chr12_396644_447642	420937	A A	ATACACAC others(883): Show ATACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGT TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAC ACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCC ATTACAGTGCGCTTCTGTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATA CACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGTT CCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGCGAGAGGGTAAACA CACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGTTCCAT TACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACA TAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAATACACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACAT AGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAAATACACATAGCAGCACACTCCATGTTCCATTACAG TGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	202	0.0050	890	c.413 others(907): Show c.413+2301_413+2302insTACACACATAGCAGCACCCTCCATGTTC CATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACAC ACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATT ACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACA TAGCAGCACCCTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACA CATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTG CTGGGAGCGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTA CAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATA GCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAATACACATAGCAGCACACTCCATGTTCCATTACAGT GCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACACATAG CAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGG AGTGAGAGGGTAAACACACATAGCAGCACACTCCATGTTCCATTACAGTG CGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACATAGCAGC ACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTG AGAGGGTAAAAT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12			chr12	TogoVar

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