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
SPIRE2_chr16_89823475_89876319	89852377	C C	CCCATATT others(501): Show CCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCA TGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTT CCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCC CCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAG ATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCC CATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATC CTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCAC CCCCCGGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCC CACGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATC TTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCT CCCCACCCA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0211 a0001c0021t0001g0211	1	304	0.0033	508	c.645 others(525): Show c.645+1720_645+1721insTATTCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCA GATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGC CCATCTTCCATCCTCCCCCCACCCCCCATATTCCATGGCCCATCTTCCAT CCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCAC CCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCC CCTGGCCCATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCAT CTTCCATCCTCCCCCCACCCCCCGGATCCCATGGCCCATCTTCCATCCTC CCCCCACCCCCCGGATCCCACGGCCCATCTTCCATCCTCCCCCCACCCAC CAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATG GCCCATCTTCCATCCTCTCCCCACCCACCA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(501): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT GTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	71	0.0141	508	c.262 others(527): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTC CTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCT CCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCC TCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(501): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGA GAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAG GGAGGGAGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGG GGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAG GGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAG AGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAG GGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0011 a0011	a0011c0025 a0011c0025	a0011c0025t0002 a0011c0025t0002	a0011c0025t0002g0032 a0011c0025t0002g0032	1	131	0.0076	508	c.22 others(519): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG ACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGG GAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGGA GAGGGACAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGG GAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGAGGGGGG AGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGA GGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGA GAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(501): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAG GGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGG GGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAG GGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAG AGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAG GGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0134 a0003c0134	a0003c0134t0001 a0003c0134t0001	a0003c0134t0001g0036 a0003c0134t0001g0036	1	131	0.0076	508	c.22 others(519): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG ACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGG GGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAG GGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGG AGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGA GGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGA GAGAGGGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768604	G G	GGGGAGGG others(501): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGACAGGGAGAGGGAGA GAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAG GGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGA GAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGG GGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAG AGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAG GGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0190 a0001c0033t0001g0190	1	131	0.0076	508	c.22 others(519): Show c.2268_*2269insGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAG GGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGG GGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGG ACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGG GGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAG GGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGA GAGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGA GGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGG AGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGG GAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGG GAGTGAGAGAGAGAGGGAGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1886		chr12	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(501): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0263 a0001c0001t0006g0263	1	9	0.1111	508	c.75 others(519): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(501): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACACGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACACGTGTGTATATATACACGTGTATATAT ATACACGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATAT ACACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATAC GTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	87	0.0115	508	c.271 others(525): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACGTGTATATATATACACGTGTATATA TACACACGTGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACGTGTATATATATACACGTGTATATATACACACA CGTATATATATACACGTGTATATATACACACACGTATATATATACACGTG TATATATACACACACGTATATATATACACGTGTATATATACACACACGTA TATATATACACGTGTATATATACACGTATATATATACACGTATATATACA CACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SYTL3_chr6_158645054_158769871	158701175	G G	GGTGAGCT others(501): Show GGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTG TGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAG TGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0095 a0004c0003t0001g0095	1	232	0.0043	508	c.395 others(525): Show c.395-5850_395-5849insGCTGTCTGGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAG CTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTG AGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTG TGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAG TGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(501): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCTCACCCATCCCCC ATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATC CCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCC CCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCC CTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCC CCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCC CCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACC ACCCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCC TCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCC CACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCA CCCATCCTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	61	0.0164	508	c.142 others(529): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCTCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCC TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCC CCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCC CCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCACCACCCCTCCGCC CCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCA CCCATTCTCCCCTCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCC CCATCCTCCCTCCACCCCACCCATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TMEM163_chr2_134450759_134724000	134608420	A A	AAGGAGGA others(501): Show AAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAG AACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG ACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAACT GTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAG ACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGG TGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGTACAGACCC CGAGAACTTTGCTGGTGAAAAGGACAGACCCCGAGAACTTTGCTGGTGAA AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0216 a0001c0001t0014g0216	1	205	0.0049	508	c.323 others(527): Show c.323-56330_323-56329insTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCAAAGTTCT CGGGGTCTGTCCTTTTCACCAGCAAAGTTCTCGGGGTCTGTACTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGC ACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTC CTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTT TCACCAGCACAGTTCTCGGGGTCTGTCCTCCT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134609315	G G	GACAGACC others(501): Show GACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCTAGAAC TGTACTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAG ACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGG TGAAAAGGATGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCC CGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAA AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02055.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0151 a0001c0001t0012g0147 a0001c0001t0001g0151 a0001c0001t0012g0147	2	152	0.0132	508	c.323 others(527): Show c.323-57225_323-57224insTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCAC CAGCACAGTTCTCGGGGTCTGTCATCCTTTTCACCAGTACAGTTCTCGGG GTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGC ACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCT GTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGTACAGTTCTAGGGGTCTGTCC TCCTTTTCACCAGTACAGTTCTCGGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TP53AIP1_chr11_128930370_128947871	128930666	C C	CAGGGGTT others(501): Show CAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GAGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	231	0.0043	508	c.49 others(519): Show c.4924_*4925insTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTT CCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCC TTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTC TCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA TCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGC CTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4703		chr11	TogoVar
TPK1_chr7_144446941_144841053	144780581	T T	TTATATTA others(501): Show TTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAAT ATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAG TATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATA TTATATAGTATATAATATAGTATATTATATTATATAGTATAGTATATTAT ATAGTATAGTATATTATATTATATAGTATAGTATATTATATTATATAGTA TATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATATT ATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTAT ATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAA TATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATA GTATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTAT ATTATATAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	108	0.0093	508	c.44- others(525): Show c.44-14631_44-14630insCTATATAATATAATATACTATATTATAT ACTATATAATATAATATACTATATTATATACTATATAATATAATATACTA TATTATATACTATATAATATAATATACTATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATAATATACTATATTATATACTAT ATAATATAATATACTATATTATATACTATATAATATAATATACTATATTA TATACTATATAATATAATATACTATATTATATACTATATAATATAATATA CTATACTATATAATATAATATACTATACTATATAATATACTATACTATAT AATATAATATACTATATTATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATAATATACT ATATTATATACTATATAATATAATATACTATATTATATACTATATAATAT AATATACTATATTATATACTATATAATATA	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(501): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCCTTCCTCCGTCCCCCTTCCTCC CTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCC CCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCT TCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCT TCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCC TTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	8	0.1250	508	c.657 others(523): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCCTTCCTC CGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTT CCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCACCCT TCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCC CTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238870633	C C	CTACACAC others(501): Show CTACACACACCACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCCCACACACA CCACACACCCCACACACACCACACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCCCACACACACCACACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCACACACACCACACCCTACACACACCACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	91	0.0110	508	c.35 others(527): Show c.35+21900_*35+21901insTACACACACCACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCCCACACACACCACACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCCCACACACACCACACACCCCACACA CACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCACACCCTACACA CACCACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
VCX3B_chrX_8459830_8471510	8466927	A A	AGGTGTGT others(501): Show AGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0003 a0004c0005t0003g0003	1	180	0.0056	508	c.54 others(517): Show c.544_*545insGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGG AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGCGGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		418		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467389	A A	AATAGGTG others(501): Show AATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGG GAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0005	1	208	0.0048	508	c.10 others(519): Show c.1006_*1007insATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGAGGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGGAGGGAGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		880		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(501): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTC CCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCC CCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCC TCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCC TTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0134 a0002c0002t0001g0134	1	33	0.0303	508	c.53- others(521): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCT CCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCC CCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCC CCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCC CCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCC CCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
YBEY_chr21_46281342_46302751	46293105	C C	CGGTTAGC others(501): Show CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGG ACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGAT TCCTCCCGT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	385	0.0026	508	c.339 others(525): Show c.339+1657_339+1658insATGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAAC TCTAGATTCCTCCCGTGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZNF365_chr10_62369369_62407450	62370753	T T	TATATACC others(501): Show TATATACCATATATATAATATATATCATATAAATCATATATATCATATAC ATTCATATACATCATATACATCATATACATCATATATGATATATACATCA TATATCACACATATGATATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATATATCATATATCACACATATGATATATAT CATATATCACACATATGATATATATCATATATCACACATATGATATATAT CATACATATCACATATATCATATATATCATACATATCACATATATCATAT ATATCATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	340	0.0029	508	c.-37 others(519): Show c.-3719_-3718insATATACCATATATATAATATATATCATATAAATC ATATATATCATATACATTCATATACATCATATACATCATATACATCATAT ATGATATATACATCATATATCACACATATGATATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATATATCATATATCAC ACATATGATATATATCATATATCACACATATGATATATATCATATATCAC ACATATGATATATATCATACATATCACATATATCATATATATCATACATA TCACATATATCATATATATCATAC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3615		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(501): Show GATATATATCATATGTGATATATATTGTATATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATATAT GTCACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCATATATATGATATATATCACATATATCATATATATGAT ATATATCATATATATCATATATATGATATATATCATATATATCATATATA TGATATATATCACATATCATATATATGATATATATCACATATATATATCA TATATATCACATATATATGATATATATCATATATATATCATATATATGAT ATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	253	0.0040	508	c.-35 others(519): Show c.-3503_-3502insATATATATCATATGTGATATATATTGTATATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCATATATATGATATATATCACATA TATCATATATATGATATATATCATATATATCATATATATGATATATATCA TATATATCATATATATGATATATATCACATATCATATATATGATATATAT CACATATATATATCATATATATCACATATATATGATATATATCATATATA TATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ABCC6_chr16_16144565_16228494	16172047	A A	AGTGGGAT others(502): Show AGTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGAT GGATAAATGAATGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAAT GGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGCATAAATGAGTGAGT GGGATGGATAAATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGA TAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAG GTGGGATGGATAAATGAGTGGGTGGGATAGATAAATGAGGGGGTGGGATG GATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATA AATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTG GGTGGGATGGCTAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGTG GGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02683.hp2 HG03710.hp1 HG01106.hp1 HG02683.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0086 a0001c0001t0001g0201 a0001c0001t0001g0202	3	260	0.0115	509	c.278 others(528): Show c.2787+1236_2787+1237insCCACTCATTTATCCATCCCACCCACT CATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATC CATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTAGCCATC CCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCAC TCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCACCCCCTCAT TTATCTATCCCACCCACTCATTTATCCATCCCACCTCATTTATGCATCCC ACCCACTCATTTATGCATCCCACCCACTCATTTATCCATCCCACCCACTC ATTTATCCATCCCACCCACCCATTTATCCATCCCACTCACTCATTTATGC ATCCCACCCACTCATTTATCCATCCCACCCACCCATTTATCCATCCCACT CACTCATTTATGCATCCCACCCATTCATTTATCCATCCCACCCACTCATT TAGCCATCCCACCCACTCATTTATCCATCCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABR_chr17_998519_1184981	1065184	T T	TTATGTGA others(502): Show TTATGTGAACTGAGGGCTATGCATGTTGCTCTAGACACTGTTGTTACGTG AACTGAGGGCTATGCATGTTCCTCTAGATGCTGCTGTTATGTGAACTGAG GGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATG CATGTTCCTCCAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTC CTCTAGACACTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGA CACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTG TTACGTGAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTG AACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAG GGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGTTATGCAT GTTCCTCTAGACACTGTTGTTACGTGAAGTGAGGGCTATACATGTTCCTC TAGACACTGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0251 a0001c0001t0004g0251	1	317	0.0032	509	c.118 others(528): Show c.1182+1892_1182+1893insGCAGTGTCTAGAGGAACATGTATAGC CCTCACTTCACGTAACAACAGTGTCTAGAGGAACATGCATAACCCTCAGT TCACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACA ACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGT CTGGAGGAACATGCATAGCCCTCAGTTCACGTAACAGCAGTGCTAGAGGA ACATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGGAACATGCA TAGCCCTCAGTTCACATAACAGCAGTGTCTAGAGGAACATGCATAGCCCT CAGTTCACATAACAACAGTGTCTGGAGGAACATGCATAGCCCTCAGTTCA CATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACA GCAGCATCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGTGT CTAGAGCAACATGCATAGCCCTCAGTTCACATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1164351	T T	TAGGTAGG others(502): Show TAGGTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGAC GCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGA GCATCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGA CGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGG AGCATCTAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAG ACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCG GAGCATCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCA GACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTC GGAGCATCTAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCC AGACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGT CGGAGCATCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA20300.hp1 HG01433.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0012 a0001c0001t0001 a0001c0003t0012	a0001c0001t0001g0082 a0001c0003t0012g0118 a0001c0001t0001g0082 a0001c0003t0012g0118	2	272	0.0074	509	c.61+ others(526): Show c.61+15315_61+15316insGGATGCTCCGACATCCATGTTCACTGGG CGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGTGT GACACTTTGCCAGGGTCCCACCTAGATGCTCCGACATCCATGTTCACTGG GCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGTG TGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTCACTG GGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTGT GTGACACTTTGCCAGGGTCCCACCTAGATGCTCCGACATCCATGTTCACT GGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGTG TGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTCAC TGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTGT GTGTGACACTTTGCCAGGGTCCGTCCTACCT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS16_chr5_5135330_5325304	5305067	A A	ACACACAC others(502): Show ACACACACATCCCACACCACACACACACATCCACACCACACACACACACA TCCCACACCACACACACACAATCCCACACCACACACACAATCCCACACCA CACACACACATCCCACACCACACACACACATCCCACACCACACACACACA CATCCCACACCACACACACACACACCCCACACCACACACACACATCCACA CCACACACACACACATCCCACACCACACACAAATCCCACACCACACACAC AATCCCACACCACACACACACACATCCCACACCACACACAACCCACGCCA CACACACACATCCCACACCCATCCCACGCCACACACATCCACACCACACA CACATCCCACACCACACACACACACACACACATCCCATACCACACACACA CATCCCACACCACACACATCCCACACCACACACACATCCCACACCACACA CACACATCCCACACCACACACACACACATCCCACACCACACATACACACA CATCCCACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0008 a0008	a0008c0039 a0008c0039	a0008c0039t0015 a0008c0039t0015	a0008c0039t0015g0099 a0008c0039t0015g0099	1	322	0.0031	509	c.318 others(528): Show c.3186+1309_3186+1310insTCCCACACCACACACACACATCCACA CCACACACACACACATCCCACACCACACACACACAATCCCACACCACACA CACAATCCCACACCACACACACACATCCCACACCACACACACACATCCCA CACCACACACACACACATCCCACACCACACACACACACACCCCACACCAC ACACACACATCCACACCACACACACACACATCCCACACCACACACAAATC CCACACCACACACACAATCCCACACCACACACACACACATCCCACACCAC ACACAACCCACGCCACACACACACATCCCACACCCATCCCACGCCACACA CATCCACACCACACACACATCCCACACCACACACACACACACACACATCC CATACCACACACACACATCCCACACCACACACATCCCACACCACACACAC ATCCCACACCACACACACACATCCCACACCACACACACACACATCCCACA CCACACATACACACACATCCCACACCACACACA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK3_chr9_4704556_4746202	4714125	T T	TACGCCTA others(502): Show TACGCCTACACATATATGCCTACACATATACGCCTACACATATACGCCTA CACATATACGCCTACACATATACACCTCCACATATACACACCTCCACATA TACACACCTCCACATATACACACCTCCACATATATGCCTACACATATACG CCTACACATATACGCCTACACATATACACACCTCCACATATACACACCTC CACAACTCCACATATACACACCTCCACATATACACACCTACACATATACG CCTACACATATACGCCTACACATATACGCCTACACATATACACACCTCCA CATATACACACCTCCACATATACGCCTACACATATACGCCTACACATATA CACACCTCCACATATACACACCTCCACATATACGCCTACACATATACGCC TACACATATACGCCTACACATATACGCCTACACATATACACACCTCCACA TATACACACCTCCACATAATACACCTACACATATACACACCTACACATAT ACACCTACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG02965.hp2 others(1): Show HG00741.hp2 HG01884.hp2 HG02965.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0033 a0001c0001t0006g0192 a0001c0001t0006g0008 a0001c0001t0006g0033 a0001c0001t0006g0192	4	445	0.0090	509	c.564 others(526): Show c.564-1030_564-1029insGTGTAGGTGTATATGTGTAGGTGTGTAT ATGTGTAGGTGTATTATGTGGAGGTGTGTATATGTGGAGGTGTGTATATG TGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCG TATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGTAGGCGTATA TGTGTAGGCGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTG TAGGCGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGTGTG TATATGTGGAGGTGTGTATATGTGGAGTTGTGGAGGTGTGTATATGTGGA GGTGTGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCATA TATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATA TGTGGAGGTGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGG CGTATATGTGTAGGCATATATGTGTAGGCGT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AP3D1_chr19_2095988_2156566	2128903	C C	CCCCACAG others(502): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCC GGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCA CAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACT GCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGG AGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	394	0.0025	509	c.806 others(524): Show c.806+186_806+187insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGC GGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTC CACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCT GTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGG CCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGG GGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGC TCCACGGGGTGCAGTGTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ATF1_chr12_50759101_50826162	50823525	A A	ATATTATA others(502): Show ATATTATATATATAATCTATATTATATATAATATAGATTATATATATAAT ATAGATTATATATATAATCTATATTATATATAATATAGATTATATAATAT ATATTATATAATCTATATTATATATAATATAGATTATATATATAATCTAT ATTATATAATCTATATTATATATAATATAGATTATATATATAATCTATAT TATATAATCTATATTATATATAATATAGATTATATATATAATCTATATTA TATAATCTATATTATATATAATATAGATTATATAATCTATATTATATAAT CTATATTATATATAATATAGATTATATAATCTATATTATATAATCTATAT TATATATAATATAGATTATATAATCTATATTATATAATCTATATTATATA TAATATAGATTATATATATAATCTATATTATATATAATATAGATTATATA TATAATCTATATTATATAATCTATATTATATATAATATAGATTATATATA TAATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0287 a0001c0002t0001g0287	1	360	0.0028	509	c.37 others(520): Show c.3746_*3747insTATTATATATATAATCTATATTATATATAATATA GATTATATATATAATATAGATTATATATATAATCTATATTATATATAATA TAGATTATATAATATATATTATATAATCTATATTATATATAATATAGATT ATATATATAATCTATATTATATAATCTATATTATATATAATATAGATTAT ATATATAATCTATATTATATAATCTATATTATATATAATATAGATTATAT ATATAATCTATATTATATAATCTATATTATATATAATATAGATTATATAA TCTATATTATATAATCTATATTATATATAATATAGATTATATAATCTATA TTATATAATCTATATTATATATAATATAGATTATATAATCTATATTATAT AATCTATATTATATATAATATAGATTATATATATAATCTATATTATATAT AATATAGATTATATATATAATCTATATTATATAATCTATATTATATATAA TATAGATTATATATATAATCTATAT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2364		chr12	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(502): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATATA CAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTG TATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAAC ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACATATATAAATATATGTTGTATATACGTATATACTATAT ATGTTGTATATACGTATATACAACATATATTTATATATGTATATACGTAT ATACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATG TTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATAC ATATATAAAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01109.hp2 others(9): Show HG00438.hp2 HG00558.hp1 HG01109.hp2 HG02257.hp1 HG03195.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18971.hp2 NA18982.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0009 a0001c0001 a0001c0002 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0007 a0001c0002t0011 a0004c0009t0001	a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0134 others(9): Show a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0001t0003g0096 a0001c0001t0008g0168 a0001c0002t0007g0076 a0001c0002t0007g0180 a0001c0002t0007g0229 a0001c0002t0011g0145 a0004c0009t0001g0114	12	109	0.1101	509	c.676 others(526): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACATATAT AAATATATGTTGTATATACGTATATACAACATATATAGTATATACGTATA TACAACATATATTTATATATGTATATACGTATATACAACATATATTTATA TATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATA CAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTG TATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAAC ATATATAGTATATACGTATATACAACATATATTTATATATGTATATACGT ATATACAACATATATTTATATATGTATATACGTATATACAACATATATTT ATATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(502): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACTATATATG TTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATAC AACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGT ATATACGTATATACAACATAAATATATGTTGTATATACGTATATACATAT ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACTATATATGTTGTATATACGTATATACAACATATATTTA TATATGTATATACGTATATACAACATAAATATATGTTGTATATACGTATA TACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACATATATAAATATATGTTGTATATACGTATATAC ATATATAAAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19004.hp1 NA19065.hp1 NA18941.hp1 NA19004.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0051 a0001c0001t0001g0117 a0001c0001t0001g0123	3	100	0.0300	509	c.676 others(526): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATATATGTATATACGTATATACAACATATATTTATGTTGTA TATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACAT ATATTTATGTTGTATATACGTATATACATATATAAATATATGTTGTATAT ACGTATATACAACATATATAGTATATACGTATATACAACATATATTTATA TATGTATATACGTATATACAACATATATTTATATATGTATATACGTATAT ACAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTT GTATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATAGTATATACGT ATATACAACATATATTTATATATGTATATACGTATATACAACATATATTT ATATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
B4GALNT3_chr12_454939_568509	511802	T T	TCTTCCAC others(502): Show TCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTC TTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTC CACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCA CCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACC TTCCACCTTCTACCTTCCTTCCACCTTCCGCCTTCCACCTTCCACCTTCC TTCCACCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCTTCCGCCT TCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCACCTTCCT TCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTC CACCTTCCAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0251 a0002c0003t0018g0251	1	308	0.0032	509	c.170 others(528): Show c.170-23353_170-23352insCACCTTCCACCTTCTTCCACCTTCCA CCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTC CACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCC ACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTT CCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTC TTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTT CCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCGCCTTCCAC CTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTCCGCCTTC CGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCC TTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCT TCCACCTTCTTCCACCTTCCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
C2orf16_chr2_27532386_27587722	27539760	C C	CCCCCCCC others(502): Show CCCCCCCCCCCCCCCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGG GCAGCTGGCCGACCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0029 a0029	a0029c0038 a0029c0038	a0029c0038t0001 a0029c0038t0001	a0029c0038t0001g0004 a0029c0038t0001g0004	1	313	0.0032	509	c.144 others(526): Show c.144+2193_144+2194insCCCCCCCCCCCCCGGACGGGGCGGCTGG CCAGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCGCCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539760	C C	CCCCCCCC others(502): Show CCCCCCCCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCC GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCAGCTG GCCGACCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTCATC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0019 a0002c0006t0001g0019	1	313	0.0032	509	c.144 others(526): Show c.144+2193_144+2194insCCCCCCGGACGGGGCGGCTGGCCAGGCA GAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCCCCCCCCGCCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGG CCAGGCGTGGGGCTCATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKK2_chr12_121232692_121301709	121255235	T T	TATATATA others(502): Show TATATATATAATTATATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTA TATATATATAATTATATATATAATTATATATATATAAAATTATATATAAA ATTATATATATAATTATATATATATTATATATATAATTTTATATATATAT TATATATATAATTTTATATATATTATATATATAATTTTATATATATATAA TTATATATATATAATTTTATATATATAATTATATATATAATTATATATAT AATTATATATATATAATTATATATATAATTTTATATATAATTTTATATAT AATTTTATATATATAATTATATATATAATTTTATATATATATAATTATAT ATATAATATTATATATAATTATATATATAATTATATATATATTTTTATAT ATATAATTATATATATAATTATATATATAATTTTATATATATATATAATT ATATATATAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0117 a0002c0002t0003g0117	1	274	0.0036	509	c.907 others(524): Show c.907+314_907+315insTTATATATATAATTATATATATATATAAAA TTATATATATAATTATATATATAATTATATATATAAAAATATATATATAA TTATATATATAATTATATATAATATTATATATATAATTATATATATATAA AATTATATATATAATTATATATATAAAATTATATATAAAATTATATATAA AATTATATATATAATTATATATATATAATTATATATATAATTATATATAT AATTATATATATAAAATTATATATATATAATTATATATATATAAAATTAT ATATATAATATATATAAAATTATATATATAATATATATATAAAATTATAT ATATAATATATATATAATTATATATATAATTTTATATATAATTTTATATA TATATAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATATAATTATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255235	T T	TATATATA others(502): Show TATATATATAATTATATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTA TATATATATAATTATATATATAATTATATATATATAAAATTATATATAAA ATTATATATATAATTATATATATATTATATATATAATTTTATATATATAT TATATATATAATTTTATATATATTATATATATAATTTTATATATATATAA TTATATATATATAATTTTATATATATAATTATATATATAATTATATATAT ATAATTATATATATAATTATATATATAATTTTATATATAATTTTATATAT AATTTTATATATATAATTATATATATAATTTTATATATATATAATTATAT ATATAATATTATATATAATTATATATATAATTATATATATATTTTTATAT ATATAATTATATATATAATTATATATATAATTTTATATATATATATAATT ATATATATAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0025 a0002c0002t0003g0025	1	274	0.0036	509	c.907 others(524): Show c.907+314_907+315insTTATATATATAATTATATATATATATAAAA TTATATATATAATTATATATATAATTATATATATAAAAATATATATATAA TTATATATATAATTATATATAATATTATATATATAATTATATATATATAA AATTATATATATAATTATATATATAAAATTATATATAAAATTATATATAA AATTATATATATAATTATATATATAATTATATATATATAATTATATATAT AATTATATATATAAAATTATATATATATAATTATATATATATAAAATTAT ATATATAATATATATAAAATTATATATATAATATATATATAAAATTATAT ATATAATATATATATAATTATATATATAATTTTATATATAATTTTATATA TATATAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATATAATTATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN15_chr16_522712_559636	550768	C C	CCGGTGAG others(502): Show CCGGTGAGGGTCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGG TCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGT CGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCCCTGTC GGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCG GTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCG GTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGAGGGTCCCGGTCGG TGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGT GATGGCCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCCTGTCGGTG AGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTCGGTGA GGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAG GGTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0136 a0001c0008t0001g0136	1	57	0.0175	509	c.206 others(526): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCAGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGG GCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGC CCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGC CCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGT CCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGTCGGTGAGGGTC CCGGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCC CCGTCGGTGATGGCCCCGGTCGGTGAGGGTCCCGGTCGGTGAGGGTCCCC TGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCT GTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCGGTCGGTGAGGGCCCCGG TCGGTGAGGGTGCCCCGTCGGTGAGGGTCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC110_chr4_185440182_185476733	185471208	G G	GGGGAGGG others(502): Show GGGGAGGGCCGGGAGGGCGGGGAGGGCGGGGCGGAGGGAATTAGGAGGGG GCGGGTTTGAAGGCTGGGGCGGGGCGCAGGGATGGGATGGGGCGGAGAGA CTGGGCGGGACCTGTGGGGGCAGAGGAATGGGGCGGGGTCAAGGCTGAAG GCTGGGGCGGGGCAGAGGGATGGGGCGGGGCAGGGCTGAAGGCTGGGGCG GGGCGGAGGGAATTAGGAGGGGGCGGGGCTGAAGGCTGGGGCGGGGGGGC GGGGAGGGCCGGGAGGGCCGGGAGGGCGGGGCGGAGGGAATTAGGAGGGG GCGGGTTTGAAGGCTGGGGCGGGGCGCAGGGATGGGATGGGGCGGAGAGA CTGGGCGGGACCTGTGGGGGCAGAGGAATGGGGCGGGGTCAAGGCTGAAG GCTGGGGCGGGGCAGAGGGATGGGGCGGGGCAGGGCTGAAGGCTGGGGCG GGGCGGAGGGAATTAGGAGGGGGCGGGGCTGAAGGCTGGGGCGGGGGGGC GGGGAGGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0203 a0003c0003t0001g0203	1	9	0.1111	509	c.11- others(522): Show c.11-160_11-159insGGCCCTCCCCGCCCCCCCGCCCCAGCCTTCAG CCCCGCCCCCTCCTAATTCCCTCCGCCCCGCCCCAGCCTTCAGCCCTGCC CCGCCCCATCCCTCTGCCCCGCCCCAGCCTTCAGCCTTGACCCCGCCCCA TTCCTCTGCCCCCACAGGTCCCGCCCAGTCTCTCCGCCCCATCCCATCCC TGCGCCCCGCCCCAGCCTTCAAACCCGCCCCCTCCTAATTCCCTCCGCCC CGCCCTCCCGGCCCTCCCGGCCCTCCCCGCCCCCCCGCCCCAGCCTTCAG CCCCGCCCCCTCCTAATTCCCTCCGCCCCGCCCCAGCCTTCAGCCCTGCC CCGCCCCATCCCTCTGCCCCGCCCCAGCCTTCAGCCTTGACCCCGCCCCA TTCCTCTGCCCCCACAGGTCCCGCCCAGTCTCTCCGCCCCATCCCATCCC TGCGCCCCGCCCCAGCCTTCAAACCCGCCCCCTCCTAATTCCCTCCGCCC CGCCCTCCCCGCCCTCCCGGCCCTCCC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	1/6			chr4	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(502): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAA ATATTTTATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	92	0.0109	509	c.80- others(524): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATAT TTTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CKM_chr19_45301413_45327875	45325126	A A	AAGGAGGC others(502): Show AAGGAGGCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGACCACC CTGGCCAACGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCC GGACATGGTGGGACACACCTATAGTCTCAGCTACTCAGGAGGCCGAGATG GGAGGATCACTTGAGCCTGGGGAGGTGAGGCTGCGGTGAGCTGTGATCGC ACTGCTGCACTCCAGCCTTGGTGACAGAGCGAGACTGTGTCTAAAAAAAA AACAAAAAACAAAAAACAATTGAACTGAGGGAGACAGAGCAGAAGGATGG ACTCCAGAGCCTGAGAAGGGTAATAGGCCAGGTGCAGTGGCTCACACCTG TAATCCCAGCACTTTGGGAGGCCAAGGAGGAAGGATCCCTTGAGCCCAGG AGTTAGAGACTAGCCTCGGCAACATAGCTAAACCCTGTCTCCACAAAAAA TAAAAAAAACTACAAAAATTATCTGGGCGTAGTGGAGTGCATCTGTGGTC CCAGCTACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0106 a0001c0003t0001g0106	1	381	0.0026	509	c.-23 others(520): Show c.-2325_-2324insGAGTAGCTGGGACCACAGATGCACTCCACTACGC CCAGATAATTTTTGTAGTTTTTTTTATTTTTTGTGGAGACAGGGTTTAGC TATGTTGCCGAGGCTAGTCTCTAACTCCTGGGCTCAAGGGATCCTTCCTC CTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGC CTATTACCCTTCTCAGGCTCTGGAGTCCATCCTTCTGCTCTGTCTCCCTC AGTTCAATTGTTTTTTGTTTTTTGTTTTTTTTTTAGACACAGTCTCGCTC TGTCACCAAGGCTGGAGTGCAGCAGTGCGATCACAGCTCACCGCAGCCTC ACCTCCCCAGGCTCAAGTGATCCTCCCATCTCGGCCTCCTGAGTAGCTGA GACTATAGGTGTGTCCCACCATGTCCGGCTAATTTTTGTATTTTTAGTAG AGACAGGGTTTCACCGCGTTGGCCAGGGTGGTCTTGAACTCCTGAGCTCA AGCAATCCTCCTGCCTCAGCCTCCT	CKM	ENSG00000104879.5	transcript	ENST00000221476.4	protein_coding		2252		chr19	TogoVar
CKM_chr19_45301413_45327875	45325126	A A	AAGGAGGC others(502): Show AAGGAGGCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGACCACC CTGGCCAATGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCC GGACATGGTGGGACACACCTATAGTCTCAGCTACTCAGGAGGCCGAGATG GGAGGATCACTTGAGCCTGGGGAGGTGAGGCTGCGGTGAGCTGTGATCGC ACTGCTGCACTCCAGCCTTGGTGACAGAGCGAGACTGTGTCTAAAAAAAA AACAAAAAACAAAAAACAATTGAACTGAGGGAGACAGAGCAGAAGGATGG ACTCCAGAGCCTGAGAAGGGTAATAGGCCAGGTGCAGTGGCTCACACCTG TAATCCCAGCACTTTGGGAGGCCAAGGAGGAAGGATCCCTTGAGCCCAGG AGTTAGAGACTAGCCTCGGCAACATAGCTAAACCCCGTCTCCACAAAAAA TAAAAAAAACTACAAAAATTATCTGGGCGTAGTGGAGTGCATCTGTGGTC CCAGCTACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03540.hp1 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0145 a0001c0002t0001g0146	2	382	0.0052	509	c.-23 others(520): Show c.-2325_-2324insGAGTAGCTGGGACCACAGATGCACTCCACTACGC CCAGATAATTTTTGTAGTTTTTTTTATTTTTTGTGGAGACGGGGTTTAGC TATGTTGCCGAGGCTAGTCTCTAACTCCTGGGCTCAAGGGATCCTTCCTC CTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGC CTATTACCCTTCTCAGGCTCTGGAGTCCATCCTTCTGCTCTGTCTCCCTC AGTTCAATTGTTTTTTGTTTTTTGTTTTTTTTTTAGACACAGTCTCGCTC TGTCACCAAGGCTGGAGTGCAGCAGTGCGATCACAGCTCACCGCAGCCTC ACCTCCCCAGGCTCAAGTGATCCTCCCATCTCGGCCTCCTGAGTAGCTGA GACTATAGGTGTGTCCCACCATGTCCGGCTAATTTTTGTATTTTTAGTAG AGACAGGGTTTCACCGCATTGGCCAGGGTGGTCTTGAACTCCTGAGCTCA AGCAATCCTCCTGCCTCAGCCTCCT	CKM	ENSG00000104879.5	transcript	ENST00000221476.4	protein_coding		2252		chr19	TogoVar
CLPTM1L_chr5_1312752_1350099	1333252	A A	AGATGAGG others(502): Show AGATGAGGATAAGGGGAGACTACTGTATACACACGGGATGAGGATAAGGG GCGGACTACTGTATATACACTGGATGAGAACAAGGGGGGACTACTGTATA CACACGGGATGAGGATAAGGGGGGAATACTGTAGACACACCGGATAAGGG GGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATAC ACACGGGATGAGGATAAGGGGCGGACTACTGTATATACACTGGATGAGAA CAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGGAATACT GTAGACACACCGGATAAGGGGGGACTACTGTATACACACCGGATGAGGAT AAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTG TAGACACACCGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATA AGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGT AGACACACCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	238	0.0042	509	c.891 others(526): Show c.891+1036_891+1037insCGGTGTGTCTACAGTAGTCCCCCCTTAT CCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGT ATACAGTAGTCCCCCCTTATCCGGTGTGTCTACAGTAGTCCCCCCTTATC CTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTA TACAGTAGTCCCCCCTTATCCGGTGTGTCTACAGTATTCCCCCCTTATCC TCATCCCGTGTGTATACAGTAGTCCCCCCTTGTTCTCATCCAGTGTATAT ACAGTAGTCCGCCCCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCC TTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCGGTGTGTCT ACAGTATTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCCT TGTTCTCATCCAGTGTATATACAGTAGTCCGCCCCTTATCCTCATCCCGT GTGTATACAGTAGTCTCCCCTTATCCTCATC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
DOC2B_chr17_137789_186650	140917	G G	GGACCTTG others(502): Show GGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGT GAGGGGACATGGTGAGGAGGACCTGGGGGGGACCTTGGTGAGGGGACATG GTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGAGGACCTGGTGAGGGG AACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGAGGACCTGGTGA GGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATG GGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACCTGGTGAGGGGAAC ATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGGGGGA CCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAG GAGGACCTGGTGAGGGGAACATGGGGGGGACCTTGGTGAGGAGGACCTGG TGAGGGGAACATGGGTGGGACCTGGTGAGGAGGACCTGGTGAGGGGAACA TGGGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0279 a0001c0002t0016g0279	1	336	0.0030	509	c.65 others(520): Show c.6523_*6524insTCCCCACCCATGTTCCCCTCACCAGGTCCTCCTC ACCAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACCAAGGTCCC CCCCATGTTCCCCTCACCAGGTCCTCCTCACCAAGGTCCCACCCATGTTC CCCTCACCAGGTCCTCCTCACCAAGGTCCCCCCCATGTTCCCCTCACCAG GTCCTCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCCCTCAC CAGGTCCTCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCC TCACCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACCAGGTC CTCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCACCA GGTCCTCCTCACCATGCTCCCCTCACCATGTCCCCTCACCAAGGTCCCCC CCAGGTCCTCCTCACCATGTCCCCTCACCAAGGTCCCACCCATGTTCCCC TCACCAGGTCCTCCTCACCAAGGTC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1871		chr17	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(502): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATTTATATAAATACATTATATTTTATATATTTATATAAATACATTATAT TTTATATATTTATATAAATATATTATATTTTATATAATATATTATATATT ATATATAATA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	205	0.0049	509	c.-53 others(528): Show c.-53-10372_-53-10371insTATTATATATAATATATAATATATTA TATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTATA TAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATATAT AATATATAGTCATATATTATATAAATATATAATATATAGTCATATATTAT ATAAATATATAATATATAGTCATATATTATATAAATATATAATATATAGT CATATATTATATAAATATATAATATATAGTCATATATTATATAAATATAT AATATATAGTCATATATTATATAAATATATAATATATAGTCATATATTAT ATAAATATATAATATATAGTCATATATTATATAAATATATAATATATAGT CATATATTATATAAATATATAATATATAGTCATATATTATATAAATATAT AATATATAGTCATATATTATATAAATATATAATATATAGTCATATATTAT ATAAATATATAATATATAGTCATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EIF3B_chr7_2349827_2385745	2378317	C C	CCTGGGAA others(502): Show CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC GCGAGCACTG	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18954.hp1 NA19070.hp1 HG04184.hp2 NA18954.hp1 NA19070.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0007 a0001c0003 a0005c0007	a0001c0003t0001 a0005c0007t0001 a0001c0003t0001 a0005c0007t0001	a0001c0003t0001g0042 a0005c0007t0001g0084 a0001c0003t0001g0042 a0005c0007t0001g0084	3	236	0.0127	509	c.215 others(526): Show c.2155-366_2155-365insATCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGA TGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGT TCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTT CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGC AGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTC GAGGAAGGAGAAGGCGCGAGCACTGCTGGGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241806988	A A	ACCCTCCC others(502): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTC AACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGAC CTCCGCAGGCCACTCTCCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGC AGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	226	0.0044	509	c.28 others(520): Show c.2822_*2823insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAACCCAGGGACCTCCGCAGGCCACTCTCCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2702		chr2	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(502): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTTCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG GAGACGGAGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02056.hp2 NA18612.hp2 others(8): Show HG00621.hp1 HG02056.hp2 NA18612.hp2 NA18942.hp1 NA18953.hp2 NA18968.hp1 NA19012.hp1 NA19056.hp1 NA19067.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0068 a0001c0001t0001g0203 a0001c0001t0001g0324 others(8): Show a0001c0001t0001g0068 a0001c0001t0001g0203 a0001c0001t0001g0324 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0002t0001g0320 a0001c0002t0001g0337 a0001c0002t0001g0351	11	98	0.1122	509	c.146 others(526): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGAC GGAGCCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(502): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCTAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG GAGACGGAGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01192.hp1 HG02738.hp1 others(3): Show HG00423.hp2 HG01192.hp1 HG02738.hp1 HG03492.hp1 NA18983.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0123 others(3): Show a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0123 a0001c0001t0001g0204 a0001c0002t0001g0144 a0001c0002t0001g0175	6	93	0.0645	509	c.146 others(526): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCTAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGAC GGAGCCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GPATCH2_chr1_217421992_217636090	217524926	G G	GGGAGAGG others(502): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03710.hp2 HG01515.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0034 a0001c0001t0020g0158 a0001c0001t0001g0034 a0001c0001t0020g0158	2	167	0.0120	509	c.109 others(530): Show c.1099-10038_1099-10037insTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(502): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTATATATATATATTTTATACATATAAATATATATT ATAAATATATATTTATACATATAAATATATATTATAAATATATATATTTA TATTTATTTATATATATAAATATATATATTTATATATATAAATATATATA TTTATATATATAAATATATATATTTATATATAAATATATATATTTATATA TATAAATATATATATTTATATATAAATATATATATTTATATATATAAATA TATATATTTATATATAAATATATATATTTATATTTATTTCTATATATAAA TATATATATTTATATATATAAATATATATTTATATATATAAATATATATA TTTATATTTATAAATATATATATTTATATATATTTATATTTATATATATT TATATATATT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0010 a0001c0002t0007g0010	1	133	0.0075	509	c.-97 others(526): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATAAATAAATATAAATATATATATTTATATGTAT ATATATAAATATATATATTTATATATATATATTTTATACATATAAATATA TATTATAAATATATATTTATACATATAAATATATATTATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATAAATATATATATTTA TATATATAAATATATATATTTATATATAAATATATATATTTATATATATA AATATATATATTTATATATAAATATATATATTTATATTTATTTCTATATA TAAATATATATATTTATATATATAAATATATATTTATATATATAAATATA TATATTTATATTTATAAATATATATATTTATATATATTTATATTTATATA TATTTATATATATTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HBQ1_chr16_175459_186179	186068	G G	GGAGGAAC others(502): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGA CACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA GGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	243	0.0041	509	c.49 others(520): Show c.4960_*4961insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4890		chr16	TogoVar

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