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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
PLEKHA4_chr19_48832097_48873617	48834421	TTGGACTC others(840): Show TTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTG GACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGC CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTC CTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGTGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGT CCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG TGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0013 a0007c0009t0001g0013	1	268	0.0037	-847	c.20 others(11): Show c.2021_*2867del		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding				2675		chr19	TogoVar
SIGIRR_chr11_400716_419999	411859	GACCATGT others(840): Show GACCATGTCTGGATACAGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGT CTGGATACAGTCGGGGGGGGGGGGTGCTCAGCTCTGACCATGTCTGGATG CAGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTGGGG GGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGTGC CCAGCTCTGACCATGTCTGGATGCAGTCGGGGGAGGTGCCCAGCTCTGAC CATGTCTGGATACAGTCGGGGGGAGGTGCCCAGCTCTGACCATGTCTGGA TACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGG GAGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAG CTCTGACCATGTCTGGATACAGTCGGGGGGGGGGTGCCCAACTCTGACCA TGTCTGGATGCAGTCGGCGGGGGTGCCCAGCTCTGACCATGTCTGAATGC AGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGG GGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGCGGGGGGGGGTGCT CAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCAT GTCTGGATACAGTCGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATAC AGTCGGGGGGGGGTGCCCAGCTCTGAACATGTCTGGATACAGTCGGGGGG GGGTGCCCAGCTCTGAACATGTCTGGATACAGTCGGGGAGGGGTGCTCAG CTCTGACCATGTCTGGATACAGTCGGGGGGGGGGGGTGCCCAGCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp2 NA21309.hp1 HG02717.hp2 HG03540.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0014 a0001c0001t0005g0197 a0001c0001t0001g0014 a0001c0001t0005g0197	3	240	0.0125	-847	c.-15 others(19): Show c.-154+2117_-153-1833del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9					chr11	TogoVar
SRGAP2B_chr1_144882288_145100328	144882892	GCAAAAAG others(840): Show GCAAAAAGCCGGGTCGGGCAAAAAGCCGCGTCGGCGGGGGGGAAAAAGCC GCGGCGGCAAAAAGCCGGGTCGGGCAAAAAGCCGCGGAGGCAAAAAAAGC CGCGGTGGCAGGGGGCAAAAAGCCGCGGCGGGCAGAAAGTCCTGGGGGCG GGGGGCAAAAAGCCACGGCCGGCAAAAAACCGCGGCGGCAGGGGGCAAAA AGCCGGGTCTGGCAAAAAGCCGTGGAGGCAAAAAGCCGCGGTGGGCAGAA AGCCATGGCGGCGGGGTGCAAAAAGCCGCAGCGGGCAGAAAGCCGCGGCG GGGGGGCAAAAAGCCGCGGCCCGCAAAAAGCAGCGGCGGCGGGGGTGCAA AAAGCCGCTGCGGGCAAATAAGTGCGGCACCGGCGGGGGGGGTAAAAGGC CGGGTCGGGCAAAAAGCCACGGCGGCGGGGGTGCAAAAAGCCACAGCGGC GCGGGGGAAAAAGCCGTGGCGGGCAGAAAGGCGCGGCGGCGTGGGGGAAA AAGCCGCGGCGTTGGGGGCAAAAAGCCGCGGTGGCGGGGGGGCAAAAAGC TGCGGTGGCGGGGGGGCAAAAAGCCGTGACCGGCAAAAAGCCGTGGTGGC GGGGAACAAAAAGCCGCGGCGGCGGGGGCGGGCAAAAAGCCGGGGCGGGC AAAACCCCGAGGCGCCGTGGGGGCAAAAAGCCGGGGCGGGCAAAAAGCCG GGGCGGGCAAAAACCCGCGGCGGCGGTGGGGCAAAAAGCTGGAGCGGGTA AAAAGCCGCGGCAACAAAAAGCCTCGGCGGCGGGGGCGCAAAAAGCCGCG GTGGGCATAAACCCGAGGCGGCGGGGGGGGGGGGGTGCAAAAAACCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0054 a0003c0003t0004g0055 a0003c0003t0004g0054 a0003c0003t0004g0055	2	54	0.0370	-847	c.84 others(11): Show c.8421_*9267del		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding				4395		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1239182	CCCCCCTG others(839): Show CCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTCCCTCCCGGTGTT TACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTTACTC CCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCG GTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0083 a0001c0001t0054g0083	1	104	0.0096	-846	c.136 others(19): Show c.1361+2103_1361+2948del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9					chr10	TogoVar
C7orf50_chr7_992006_1143247	1128367	TCACCCGG others(839): Show TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGG GCTGGAGTGCAGTGGCACAATCTCGGCTCATCTCACCGTCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGT GCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAG TGGCGCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGC ACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGA TCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCGCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTC GGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGG CTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC CCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCA TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCAC CTGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCGG GCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03579.hp1 HG02818.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0214 a0001c0001t0005g0223 a0001c0001t0005g0214 a0001c0001t0005g0223	2	324	0.0062	-846	c.-1- others(14): Show c.-1-1827_-1-982del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4					chr7	TogoVar
CCDC200_chr17_43216420_43233623	43232777	GCCCAGAG others(839): Show GCCCAGAGAAGGGCCGCTGGAGGGCTCCTTGGCCTAGCGGTAATGCCAGT GCCTGGGAAGGCCCTGGTTACTTAGCAGGCCTTGGTCTAGCGGTGGCCCC AGTGCCTGGGAAGGCACCCGTTACTTAGCAGAATTACTACGCAGCCATAA AAAAGGATGAGTTCATGACCTCTGCGGGAACGTGGAGGGAGGAAAAGGCC TCATTCTCAGCAAACTGACACAGGAAGCGAAAACAAACACCGCATGTTCT CGCTCCTAAGTGGGAGTTGAACAGCGAGAACACATGGGACACAGGGAGGG GAACATCACACGCCGGGCCCTGACGGGGCGTGGGGGGCAAGGGGAGAGAG AGCATTAGGACAAATAGCCAACGCATGCGGGGCTTCAAACCTAGACGACT GGTGGATAGGTGCAGCAAAGCACCGTGGCACACGTGTACCTATGTTCCAA ACCTGCACGTCCTGCACATGTACCCCAGAACTTGGGAGGGGGTGGGGGAA ACCAAAAGAGCGAGGGAGAGGCGGGGGGGGGGAAGAGAGAGAGAGAGGGA AAGAGAGAGAGAGACAGAGAGAGGAGAGAGAGAGAGAGAGAGAGACAGAG AGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGACGGAGAGACAGAGAG AGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAG GAGAAAGAAGAACTCCGGGTGGGTCCCATTCCTTTAAAAGGTCGCCACCC ACTCGACTGCCAAGCTGAGATCCTAAGGACCTCCCCAAAGGAGGAGGTCG TGGCCTTCCCAAAGCGCAGTAGCCACGGTGGAAACGACAGCGTGCCG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	332	0.0030	-846	c.-50 others(11): Show c.-5069_-4224del		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding				4155		chr17	TogoVar
ECSCR_chr5_139443560_139467743	139452831	NNNNNNNN others(839): Show NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNGTGTGGGGCATGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	368	0.0027	-846	c.512 others(867): Show c.512+925_512+1771delTATACACATGCCCCACACNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNinsC		ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	8/9					chr5	TogoVar
ERVV-2_chr19_53039740_53056680	53054882	GTGTTCTA others(839): Show GTGTTCTAATTTTAAAGCATTTAGCAGGAACTTGTGCACAGTAATATTTG ACTTCATGGGCAGTTTCTTGAATCCTGTTCTGCAAAGAGGTGGCATGCAT CCAGATGTGGCCCCTAAACAATCCCTGCTGCCCAGCATACAACCCACACA AATATACGACAAGAAAACAAAACCTTAGACCAATATCCCTGAAAATATTG GTGAAAAAGTCCTCAACATAATATTAGGGGGCCCACACCCCATCTCCAAT CCAGGCCCCAGTGGAGCTTCTTCCCAAGTTCATGTCACTAGGTCACGGGC AATGGAATGTAAGTGAGATAAGAGGGACTGAGGGACCGCATGGGTGAGTG AGCAAATATGTCAGGCAGGATGCTTCAGACTCAAAGACTTGCAACTCCAA AGAATGACATTTTGTTATTGTAGGTAACTCCTCTGGTATGAGCAGAGCAG GGCAGGGCAGGAGAGGGCTCCCCCTCCCCATACACACACATCAGGAATGT CAGGCAACTATCAGATGATGGTCAGGTGGTTGTTAAACATGTAAAATAAT AGTCACAGCTGGCACCAGGGAAAGGCAGGCTCCTCACACACAGAAAACAC CTGAAACTGGTGATCTGCTGCTTCCCATGAGATCTCAGGAGTTGGGCGAG TGGACTCAAGCACGCACATGCGGACAGCCCACCCCAAGGGAAGAATCAGG GAAGCAAGACCCCGGAAGTATACCAATGTATAAAACCCCAAGTCAAAAGG TCGAAGTGCACACTTGCCTTTCAAGTCACCCACTTGGCACTTGGCCGTCT TCCAACTGTACTTTCCTTCCTTTCATTTCTGCTCTAAAGCTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02976.hp2 HG02818.hp2 HG02976.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0050 a0002c0010t0051 a0002c0010t0050 a0002c0010t0051	a0002c0010t0050g0035 a0002c0010t0051g0035 a0002c0010t0050g0035 a0002c0010t0051g0035	2	444	0.0045	-846	c.40 others(11): Show c.4024_*4869del		ERVV-2	ENSG00000268964.3	transcript	ENST00000601417.3	protein_coding				3203		chr19	TogoVar
MPPED1_chr22_43407014_43512848	43496047	AGGTGGTG others(839): Show AGGTGGTGATGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTG GTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGATGGT GGAGGTGGTGGTGGTGGAGGTGGTGATGGTGGAGGTGGTGGTGGAGGTAG TGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTG GAGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGT GGTGGAGGTAGTGGTGGCGGAGATGGTGGTGATGGAGGTGGTGATGGAGG TGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTG GTGGTGGAGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGA GGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGG AGGTAGTGGTGGTGGAGATGGTGGTGGAGATGGTGGTGGTGGAGATGGTG GTGGTGGAGATAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGT GGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGAGATGGTGGTGGTGG AGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGAAGTGGTGGTGGTGGA GGTAGTGGTGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGG TGGCGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	241	0.0041	-846	c.633 others(17): Show c.633-2180_633-1335del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6				INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50343869	GCCCCCCA others(839): Show GCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCCC CTCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCC AGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTC AGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTG CCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCC CCCCAGTCAGTGCCCCCTCTAGTCAGTTTCCCCCCAGTCAGTGCCTCCTC CAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCA GTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTC CCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCA GTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCCAGTCAGT GCCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGCCCCCTTCAGTCAGTTC CCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCCCCCC AGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCA ATTCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCT CCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCA GTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGT GCCCCCTCCAGTCAATTCCCCCTAGTCAGTGCCCCCTCCAGTCAGTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00597.hp1 others(82): Show HG00099.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01981.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03927.hp1 HG04184.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp2 NA18961.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18990.hp2 NA18999.hp1 NA19000.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19074.hp2 NA19081.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0013 a0014 a0015 a0019 a0020	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0014 a0001c0017 a0001c0021 a0002c0004 a0005c0010 a0013c0026 a0014c0032 a0015c0033 a0019c0019 a0020c0023	a0001c0001t0001 a0001c0001t0009 a0001c0001t0020 others(20): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0002t0003 a0001c0002t0005 a0001c0002t0011 a0001c0002t0012 a0001c0003t0001 a0001c0003t0008 a0001c0008t0003 a0001c0014t0001 a0001c0017t0003 a0001c0021t0001 a0002c0004t0009 a0005c0010t0001 a0013c0026t0003 a0014c0032t0003 a0015c0033t0011 a0019c0019t0003 a0020c0023t0001	a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 others(82): Show a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0290 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0339 a0001c0001t0009g0242 a0001c0001t0009g0253 a0001c0001t0009g0264 a0001c0001t0020g0237 a0001c0001t0021g0285 a0001c0001t0023g0317 a0001c0001t0024g0236 a0001c0002t0003g0277 a0001c0002t0003g0281 a0001c0002t0003g0288 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0301 a0001c0002t0005g0280 a0001c0002t0011g0291 a0001c0002t0011g0322 a0001c0002t0011g0335 a0001c0002t0012g0274 a0001c0002t0012g0276 a0001c0002t0012g0279 a0001c0003t0001g0316 a0001c0003t0001g0319 a0001c0003t0008g0247 a0001c0003t0008g0289 a0001c0003t0008g0296 a0001c0003t0008g0303 a0001c0008t0003g0284 a0001c0008t0003g0286 a0001c0008t0003g0287 a0001c0008t0003g0292 a0001c0008t0003g0295 a0001c0008t0003g0297 a0001c0008t0003g0299 a0001c0008t0003g0302 a0001c0014t0001g0320 a0001c0017t0003g0275 a0001c0017t0003g0282 a0001c0021t0001g0272 a0002c0004t0009g0298 a0005c0010t0001g0238 a0005c0010t0001g0250 a0005c0010t0001g0258 a0005c0010t0001g0268 a0013c0026t0003g0278 a0014c0032t0003g0283 a0015c0033t0011g0334 a0019c0019t0003g0300 a0020c0023t0001g0340	85	336	0.2530	-846	c.-14 others(18): Show c.-148+326_-148+1171del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr22	TogoVar
RPTOR_chr17_80539838_80971368	80744055	CCCTGGCT others(839): Show CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGTTACGAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGG TTACGAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0088 a0001c0088	a0001c0088t0006 a0001c0088t0006	a0001c0088t0006g0142 a0001c0088t0006g0142	1	169	0.0059	-846	c.655 others(17): Show c.655-9939_655-9094del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33				INFO_REALIGN_3_PRIME	chr17	TogoVar
ERC1_chr12_986223_1500931	1086419	GTTGTTGT others(838): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACA GGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAA AGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATT ATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAA TATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGC TGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0074 a0001c0001t0018g0074	1	139	0.0072	-845	c.108 others(19): Show c.1086+2849_1086+3693del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18				INFO_REALIGN_3_PRIME	chr12	TogoVar
PPP6R2_chr22_50338327_50450090	50343870	CCCCCCAG others(838): Show CCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCCCC TCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCA GTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCA GTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGC CCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCC CCCAGTCAGTGCCCCCTCTAGTCAGTTTCCCCCCAGTCAGTGCCTCCTCC AGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAG TGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCC CCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAG TCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCCAGTCAGTG CCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGCCCCCTTCAGTCAGTTCC CCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCCCCCCA GTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAA TTCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCTC CTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCAG TCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGTG CCCCCTCCAGTCAATTCCCCCTAGTCAGTGCCCCCTCCAGTCAGTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0338 a0001c0008t0003g0338	1	328	0.0030	-845	c.-14 others(18): Show c.-148+326_-148+1170del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr22	TogoVar
VPS53_chr17_503668_719839	505701	GAGATCAG others(838): Show GAGATCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGAAGA GCATTGGTGACCTTCGAGAGCAGGGTCAGGACAGCGGTTGAGATGGAAGC TGACTTTCTAGAAGAGCACCGGTGACCCTCAAGAGCGGGGTCAGGACAGT GGTTGAGATGGAAGCTGACTTTGTAGAAGAGCATTGGTGACCTTCAAGAT CAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCACC GGTGACCCTCAAGAGCGGGGTCAGGACAGTGGTTGAGATGGAAGCTGACT TTGTAGAAGAGCATTGGTGACCTTCGAGATCAGGGTCAGGACAGCGGTTG AGATGGAAGCTGACTTTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGGG TCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCATTGGTGA CCTTCGAGAGCAGGGTCAGGACGGTGGTTGAGATGGAAGCTGACTTTCTA GAAGAGCATTGGTGACCTTCGAGAGCAGGGTCAGGACAGCGGTTGAGATG GAAGCTGACTTTCTAGAAGAGCACCGGTGACCTTTGAGAGCGGGGTCAGG ACAGTGGTTGAGATGGAAGCTGACTTTGTAGAAGAGCATTGGTGACCTTC GAGAGCAGGGTCAGGACAGTGGTTGAGATGGAAGCTGACTTTCTAGAAGA GCACCGGTGACCCTCAAGAGCGGGGTCAGGACAGTGGTTGAGATGGAAGC TGACTTTCTAGAAGAGCACCGGTGACCCTCAAGAGCGGGGTCAGGACAGT GGTTGAGATGGAAGCTGACTTTGTAGAAGAGCATTGGTGACCTTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01168.hp2 HG02074.hp2 others(13): Show HG01074.hp2 HG01168.hp2 HG02074.hp2 HG02135.hp2 HG02602.hp1 NA18747.hp1 NA18944.hp1 NA18960.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19009.hp1 NA19010.hp2 NA19084.hp1 NA19087.hp1 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0005 a0001c0011 others(3): Show a0001c0002 a0001c0005 a0001c0011 a0001c0016 a0002c0003 a0003c0004	a0001c0002t0010 a0001c0002t0021 a0001c0002t0045 others(12): Show a0001c0002t0010 a0001c0002t0021 a0001c0002t0045 a0001c0005t0010 a0001c0005t0021 a0001c0005t0044 a0001c0005t0046 a0001c0005t0047 a0001c0005t0048 a0001c0005t0049 a0001c0005t0050 a0001c0011t0055 a0001c0016t0056 a0002c0003t0086 a0003c0004t0051	a0001c0002t0010g0057 a0001c0002t0021g0087 a0001c0002t0045g0064 others(13): Show a0001c0002t0010g0057 a0001c0002t0021g0087 a0001c0002t0045g0064 a0001c0005t0010g0007 a0001c0005t0010g0008 a0001c0005t0021g0006 a0001c0005t0044g0044 a0001c0005t0046g0096 a0001c0005t0047g0009 a0001c0005t0048g0005 a0001c0005t0049g0010 a0001c0005t0050g0011 a0001c0011t0055g0091 a0001c0016t0056g0099 a0002c0003t0086g0175 a0003c0004t0051g0017	16	222	0.0721	-845	c.12 others(13): Show c.12582_*13426del		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding				2966		chr17	TogoVar
DLGAP2_chr8_732628_1713476	1401553	TGTCCTCC others(837): Show TGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTC CTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCC TGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAG TCGTGCATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACT GAGTGCCACCTCCTCATCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTC CTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCG TCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCT CCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTTCTCCTG AGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCGGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGT ATTGCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0029 a0002c0001t0005g0029	1	40	0.0250	-844	c.107 others(19): Show c.107-99805_107-98962del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085552	CATGATCT others(837): Show CATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGT CGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCA CTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCC CACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGC CCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTT TGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGA TCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTC GTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCAC AGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCC CCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGG CCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGT GGCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGC GTGGCCCCACTGTCATGATCTCTGGCACCCCACTGTCGTGATCTCCGCGT GGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCT GCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCCTCCCACTGTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0017 a0017	a0017c0073 a0017c0073	a0017c0073t0001 a0017c0073t0001	a0017c0073t0001g0282 a0017c0073t0001g0282	1	380	0.0026	-844	c.164 others(18): Show c.1644+163_1644+1006del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					chr8	TogoVar
CFDP1_chr16_75288710_75438503	75395947	TCCCTGCC others(836): Show TCCCTGCCTAGGCTTTCCAGGTTAACGAAAACACCTGAGGAATGTTGTTT AAATGCAGTCCATCTCCCCTCCATGACTTCTCAGCATGAAACACACTGCA GCAGTCAATACTAAATCTCCATGCTGGTTTACTGATGTGAAGGCTGAAAA AGGCCCTCACACTGCACCCCACATGCAGATTAGCACTCAGCCTTGAAAGC TGAGATGGGGAGATGGAATACTGGGAATATAGGTTATAGAATTGGGAAAT AATGCCTAGGTTGGCACTATTTCAAGGAGAAAAACAAGAGTTAAAAAAAA AAATTTGAGGAGACCAGGCACAGTGGCCCATGCCTGTAATCCCAGCACTT TGGGAGGCCAAGGCAGGCGGACCACGAAGTCATGAGTTTGAGACCAGCCT GGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCA GGCATAGTGGCAGGCGCCTGTAATCACAGCTACTAGGGAGGCTGAGGCAG GAGAATTGCCTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTCAGACCACG CCACTGCACTTCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAATAA ATAAATAAATTGAGAAGACTCTGCAGAAGGCTCCTGTTTTATATCCAAAA CAACCCAAAGATGAAACAAAAACTGGCTAAATTAGCAATAATTTGGGAAT GGACGAAAGCAACATGACTGAGAATTTTGTCTAACTTCAAATCTGAAAAA ATTATCTTCACTAAAACTGAGTCCTAAAGGCTCAAATAAAGGTATTTATG GTACCTGAGAATTCAGATAAAGAGAGAAAGAGAAATGTTTAATC	T T	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	312	0.0032	-843	c.531 others(16): Show c.531-1581_531-739del		CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	4/6					chr16	TogoVar
GAL3ST2_chr2_241771822_241809287	241806575	TCCCCCCT others(836): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTT CCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	300	0.0033	-843	c.24 others(11): Show c.2410_*3252del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding				2289		chr2	TogoVar
MACROD2_chr20_13990516_16058197	15730898	TGACTAAA others(836): Show TGACTAAATTAGTTCAGAGAACTGGTCTTCGAGCTCTGAGATTCTTTCCT CAGCTTGGTTGATTCTGTTGTTAATATTTGTGGTTGTATTCTGAAACTCT TGAGGTGAGTTTTTCAGCTCTATCAGATCAGTTTGGTTGTTTCTTAAAAT GTCTATTACATCTTTTATCTCATATATCATTTCATTGTATTGCTTAGATT CCTTGGATTGGGTTTTGACTTTCTCCTGGATATCAATTGTTTTCATTTCT ATCCATAGTCTGAATTTTATTTCTGTAATCTCAGCCATTTCAGCCTGGTT AAGAACCTTTGCTTAGAAACTAGTATAGTCACTTGGAGGTAAGAAGATAG AGTAAGAAGGCTTTTTGAGTTGCCAGAGTTCTTGCACTGGTTCTTTCTCA TGTGTGTGAGCTTATTTTCCTTAAATCTTTGAAATTTCTGTCTTTTGGAT GAGGTTTTTTTATTTTATATTCTCTGATGCCCTTGGGGGTTTGATTGTGG TATAAGGTGAGTTCAGTCAACTGGGTTGATTTCTGGAAGATTTTAAGGGG CCAAGGCTCAGCTCAGCATTCCTGGTCTGAGTGCTTTAACTCTGGGGGGC TGGTACCAGGTCCCCACACTTGTTCTCTGGCACCTTGAGGTTAGAAACCA GCTGCACTAGAAAGGCCAACGTGTTTCCAGTCCACTGGCTACAACATTCC TGTGGGAGGTACTGACCAAAGCACTTCACTGGGGCAGTGGCAGTGGGATC CATGCTCACTTACACATGCTAGGAGCCATGGCATTGCAGAGAGGTGCACA TGCGTCGCCTGGGGCAGGATACTGGCAGAAACGAGTTTGCAGCA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	24	0.0417	-843	c.646 others(21): Show c.646-131846_646-131004del		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17					chr20	TogoVar
PIAS1_chr15_68049315_68198847	68125981	GAGCCACT others(836): Show GAGCCACTGCGCCCCAGACCAGTTTCTGATCTTTTTCTGTAACCTGTTCT TGCCCCACCTCTCCAGAAACATGTAGGATTCTTTTTATGTGCAGTGTTCT GAAATTTTATTGCCATATGAACCAATTTTAGCCATTATATTGGGAATACA GTGGTAATCTGGAAACTTGTTCTTTACTTGTAGGAACTTGTCTTGAATTA TTTCATTAATTATTTCTTATTTCCTTCCTTCTGTTTTCTCTGTTCTCTCT TTGGAACTCCTATTCCCAGACTAACCCTCTAATTTTCAAACCTGTTTTCT TCCTCCTTGTCTTTTTGCTTTACTTTCTGGGAGATATCCTGAACTTTATT GTCCAGCCTGTCTATTGAGCTTTTCCTTTGTGCATCGTATTTTTACCCTC CAAGAACTTTGTGTATACATATAAAATACAGATGTTTCTTTTTTTTAAAC AATAACTAGTTAATTGTTTTTGTTTCTGTTTTTGAGACAAGGCTGGCTCT CACCCAGGCTGGAGTACAGTGTTGGAATCTTGGCTCACTGCAACCTCCAC CTCCCGGATTCAAGTGATTCTTATGCCTCAGCCTTCCCAGGAGCTGGGAT TGCAGGCGTGTCCCACCACGCCCAGCCAATTTTTGTATTTTTAGTAGAGG CGGGGTTTCACCATGTTGGCCTGACCTCAAGTGATCCACCCGCCTCAGCA TCCCAAAATGCTGTAATTACAGGCATGAGCCACCGCGCCTGGCCTTGGTT AATTGTTTTATAGTTGTACCATGGTTATAAATGGTAGCTTTTTTCGGAGC CTTTGGAAATTTATCTAATTGTTGCATAATCTCTGCCTGTTCCC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19060.hp1 HG00558.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0176 a0001c0001t0003g0177	2	258	0.0078	-843	c.470 others(19): Show c.470-15961_470-15119del		PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	2/13				INFO_REALIGN_3_PRIME	chr15	TogoVar
ABR_chr17_998519_1184981	1117492	TCCTCCCC others(835): Show TCCTCCCCAGCGTTATCCCTGAGCCGGAGTTCCTCCCAGCATTATCCCTG AACCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCAT TATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCT CCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCC GAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAAC CCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCA GCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTC CCTCCCAGCGTTATTGCCTGAGCCTGAGTCCCTCCCAGCGTTAACCCTGA GCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTT ATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTC CCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCGCTGAGCCTG AGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTTCCCAGCGTTATCCC TGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCCCCCAGC GTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTC CTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAG CCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTA TCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	335	0.0030	-842	c.246 others(17): Show c.246+6849_246+7690del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22					chr17	TogoVar
CFDP1_chr16_75288710_75438503	75395933	GGAGAAAT others(835): Show GGAGAAATGTTTAATCCCTGCCTAGGCTTTCCAGGTTAACGAAAACACCT GAGGAATGTTGTTTAAATGCAGTCCATCTCCCCTCCATGACTTCTCAGCA TGAAACACACTGCAGCAGTCAATACTAAATCTCCATGCTGGTTTACTGAT GTGAAGGCTGAAAAAGGCCCTCACACTGCACCCCACATGCAGATTAGCAC TCAGCCTTGAAAGCTGAGATGGGGAGATGGAATACTGGGAATATAGGTTA TAGAATTGGGAAATAATGCCTAGGTTGGCACTATTTCAAGGAGAAAAACA AGAGTTAAAAAAAAAAATTTGAGGAGACCAGGCACAGTGGCCCATGCCTG TAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGACCACGAAGTCATGAG TTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATA CAAAAAATTAGCCAGGCATAGTGGCAGGCGCCTGTAATCACAGCTACTAG GGAGGCTGAGGCAGGAGAATTGCCTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTCAGACCACGCCACTGCACTTCAGCCTGGGCAACAGAGCGAGACTC TGTCTCAAAAATAAATAAATAAATTGAGAAGACTCTGCAGAAGGCTCCTG TTTTATATCCAAAACAACCCAAAGATGAAACAAAAACTGGCTAAATTAGC AATAATTTGGGAATGGACGAAAGCAACATGACTGAGAATTTTGTCTAACT TCAAATCTGAAAAAATTATCTTCACTAAAACTGAGTCCTAAAGGCTCAAA TAAAGGTATTTATGGTACCTGAGAATTCAGATAAAGAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18970.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(129): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0151 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0007g0312 a0001c0002t0001g0266 a0001c0002t0001g0273 a0001c0002t0001g0287	132	312	0.4231	-842	c.531 others(16): Show c.531-1566_531-725del		CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	4/6					chr16	TogoVar
ERC1_chr12_986223_1500931	1089938	GTTGTTGT others(835): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTA TTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTGTGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0002 a0001c0001t0089g0002	1	159	0.0063	-842	c.108 others(19): Show c.1086+6368_1086+7209del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18				INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC24_chr8_144517388_144532033	144531191	AGAGCAGC others(835): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGC AGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02809.hp1 others(4): Show HG01891.hp2 HG02109.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02976.hp1 HG04204.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0007c0014 a0001c0003 a0007c0014	a0001c0003t0001 a0007c0014t0001 a0001c0003t0001 a0007c0014t0001	a0001c0003t0001g0010 a0001c0003t0001g0013 a0007c0014t0001g0041 a0001c0003t0001g0010 a0001c0003t0001g0013 a0007c0014t0001g0041	7	240	0.0292	-842	c.-51 others(11): Show c.-5133_-4292del		LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding				4159		chr8	TogoVar
NPIPB7_chr16_28451329_28477336	28455757	GCCTCGGC others(835): Show GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCGTGGTGTCTG GCCCTAATGTGAGTGATCTTTAACAATGAGGACTTGAAAAAGAAAACCCT GAAGAAACCTAATTCTTTGATGTCTGGACGACAAGGAAGAAGATAGAAAT GGCATCAGATAATAAACAGTGTAAATGTTTATCAGAAAGAGGCTGGTGGT CGGGACCAGTAGGAGGATCGCTTGAGTCCAGGAGTGCATCTCTACAAAAA AGTTAAAGGATTTTTTAACATTGGCCAGGCGTGGTGGCACACATACATCT GTGATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATTGCTTGAAGCCCA GGAGGTTGAGGCTGCAGTGAGCTGTGATCGAGCCACTGCACTCCAGCCTG GGTGACAGAGCAAAACCCAGTCTCAAAAAATAATAATAATAATAATAATA TTTTACATAACCAACCACTTCTAAAGATTAAAAAAAAAACCCTACAATTA ATTAAAAACCTCAGGTCCCTCAGGCAATCATACCAGATATTGAAACAAAG CAATAACATAAGGACTGCAGTATTTATTTTATTTTTATATTATTTATTTA TTCTTCGTTAGTTTGTTTTTGGAGCGTGGGTTTTGTTTTGTTTTTTGATT TTTTTCTTTTTTTCGACCTACGGATTTATTCTTATTGCCCAGGCTTGAGT GCAATGGCGTGTTCTCAGCTTACTCAACCTCCGCCTCTTGGGTTTGGGTA ATTGTTGTGCCTCGGCCTCCCTCTGCCTCTTGGGCTTGGGCGATTGTTCC ACCTCATCCACCCTCCACCTCTTGGGTTTGGGTGGTTTTTCCA	G G	frameshift_variant others(4): Show frameshift_variant stop_lost 3_prime_UTR_truncation exon_loss_variant splice_region_variant	HIGH	NA18993.hp1 NA18993.hp1	a0027 a0027	a0027c0034 a0027c0034	a0027c0034t0011 a0027c0034t0011	a0027c0034t0011g0145 a0027c0034t0011g0145	1	380	0.0026	-842	c.107 others(9): Show c.1070_*666del	p.Val others(5): Show p.Val357fs	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7	1070/1245	357/414			chr16	TogoVar
P2RX5_chr17_3668227_3701155	3685658	CCCAGCCT others(835): Show CCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCA GGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAA CACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCC CAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAA CGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGC CCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGT CCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCC CAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCAC AGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCT CAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	205	0.0049	-842	c.981 others(17): Show c.981+1512_981+2353del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11					chr17	TogoVar
DDX51_chr12_132131594_132149319	132135180	CCCGAGTA others(834): Show CCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTG CCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTA CCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCC GAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCC ACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCC CACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGA GTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTG CCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCA CCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTC CCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	316	0.0032	-841	c.32 others(11): Show c.3251_*4091del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding				1413		chr12	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(834): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC AGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCC CTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTC CCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCG GGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGA ACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG04199.hp1 NA19066.hp2 others(1): Show HG00423.hp2 HG04199.hp1 NA19066.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0002 a0001c0007t0001 a0002c0002t0002 a0001c0001t0002 a0001c0007t0001 a0002c0002t0002	a0001c0001t0002g0005 a0001c0007t0001g0262 a0002c0002t0002g0136 a0001c0001t0002g0005 a0001c0007t0001g0262 a0002c0002t0002g0136	4	222	0.0180	-841	c.981 others(17): Show c.981+1512_981+2352del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11					chr17	TogoVar
SAMD11_chr1_918923_949574	934064	AGGGGAGG others(834): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCG GCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGG GAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGT GGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG	A A	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0056 a0001c0004t0012g0056	1	272	0.0037	-841	c.843 others(16): Show c.843-1704_843-864del		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13				INFO_REALIGN_3_PRIME	chr1	TogoVar
ADARB2_chr10_1172313_1742525	1236848	CCCTCCCG others(833): Show CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCG GTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTG GTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGT TAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTA ACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTGCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCC CGGTGTTTACTCCCATCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0009 a0001c0001t0012g0009	1	77	0.0130	-840	c.136 others(19): Show c.1362-3843_1362-3004del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9					chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238372	CCCTGCAT others(833): Show CCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCC TCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTC TCCCTCCCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCCCTGCCTCCCGGAGTTTACTCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0040 a0001c0001t0049g0040	1	105	0.0095	-840	c.136 others(19): Show c.1361+2919_1361+3758del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9					chr10	TogoVar
AHI1_chr6_135278532_135502740	135484002	TTAATGGA others(833): Show TTAATGGACTTAAAGTTCCACATGGCTGTGGCCTCACAATCATGGTGGAA GGCAAGGTGGAGCAAGTCACATCTTACATGGATGGTGGCAGACAAAGAGA GAGCTTGTGCAGGGAAACTCCCATTTTTAAAACCATCAGATCTTGTAAGA CTTATTCACTATGATGAGAACAGCATGGGAAAGACCTGCTCCCATGATTC AATTACCTCCCATTGAGTTCCTCCCATGACACACGGGAATTTTGGGAGTT ACAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATGTCACATG TTGTACTGTTACCTTTCTACCAGCATTCTACCAAAAAGCCTTGCTCGCTA CCTTACTACTAATAAACTTTTAAATACCTTTTTGATAAGCAAAAATATCT TGGTATTCCAATCTGAATCTCTTTTAAAATATTACTACATTTTATTAGTC AATGTTATTTTCTCTTGTATCTGGTTTTATTTTTTCATTCCTTTTGCTCA CTTAGCTGTTATCTTAATATTTATGACATCAATTTATGCAACTTCTTTAC AAGTTAACAAAAGGGATGAAACTTACTCATAATTTTGTTCCAAGGATTAT AGGATAATTATAAAATACTCAGAAGGTCCTTCTTATTCCACATTATGTAG CTGCTCAATAAGTATTAGCAATTATTATCACTAGCTATATGTAAGACTAT TAATGCTATGACTATAAAAATATTACATATTTTTCTCAGTGAGTTGGTTT TTGACCAAAAAAAAAAAAACTTATACATTAGATTTATTCATTCATTCAAC AAATACTTATTGAGTCTTCTGTGTGCAGGCAGAAAATGCTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0010 a0001c0021t0010	a0001c0021t0010g0181 a0001c0021t0010g0181	1	218	0.0046	-840	c.135 others(17): Show c.135+5781_135+6620del		AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	5/28					chr6	TogoVar
C1orf159_chr1_1076823_1121089	1077283	TCTATGGG others(833): Show TCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCTGTGCCG GGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGA CTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAG TCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGA CTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAG TCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0113 a0001c0001t0006g0113	1	69	0.0145	-840	c.47 others(11): Show c.4770_*5609del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding				4539		chr1	TogoVar
CHMP1A_chr16_89639435_89662708	89647564	AGACCCAG others(833): Show AGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGAC CCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCG GGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGT GGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAA GGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCG ACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAG ACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp2 HG02647.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0050 a0001c0001t0004g0051	2	384	0.0052	-840	c.252 others(15): Show c.252+947_253-234del		CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6					chr16	TogoVar
DDX51_chr12_132131594_132149319	132135110	CCCGAGTG others(833): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCGAGTATGCCCCGGTGCCCGCTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTG CCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCT CCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAG TGTGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTG CCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCA CCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGC CCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCC TCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGT GTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCC ACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0021 a0004c0004t0021	a0004c0004t0021g0075 a0004c0004t0021g0075	1	332	0.0030	-840	c.33 others(11): Show c.3322_*4161del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding				1483		chr12	TogoVar
DVL1_chr1_1330278_1354418	1350326	AGGAGCGA others(833): Show AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01496.hp2 HG00738.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0001 a0001c0001t0001 a0001c0020t0001	a0001c0001t0001g0141 a0001c0020t0001g0099 a0001c0001t0001g0141 a0001c0020t0001g0099	2	330	0.0061	-840	c.-21 others(11): Show c.-2101_-1262del		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding				909		chr1	TogoVar
KCNG2_chr18_79792938_79905100	79886187	AGGGAGAT others(833): Show AGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGAC ACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACA TGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGAC GGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACAT AGGGACGTGGGGACAGGGACACGGGACAGGGAGATGGGGATGGGAACATA GGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGG GAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATG GGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAG GGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACAC AAGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACACG GGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGG GGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGG GACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGG GGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGG GACGTGGGGACAGGGACATGGGGACACAAGACAGGGAGATGGGGATGGGA ACATAGGGACGTGGGGACAGGGACATGGGGACACGGGACAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0296 a0001c0005t0001g0296	1	296	0.0034	-840	c.625 others(19): Show c.625-12850_625-12011del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr18	TogoVar
MAD1L1_chr7_1810795_2237945	1991229	ACCGCTGG others(833): Show ACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAG AGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCC CACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCAC CTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCT GAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGG GTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGC CGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCAC GAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGG CCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCAC TGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAG CGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCA CCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCT GCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGA GCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG02809.hp2 others(7): Show HG02486.hp2 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0006t0001 a0001c0007t0004 a0001c0001t0001 a0001c0006t0001 a0001c0007t0004	a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0151 others(7): Show a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0188 a0001c0001t0001g0210 a0001c0001t0001g0248 a0001c0006t0001g0218 a0001c0007t0004g0079 a0001c0007t0004g0080	10	262	0.0382	-840	c.141 others(20): Show c.1416+9996_1417-10689del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18					chr7	TogoVar
MYT1L_chr2_1784113_2336275	2034449	AACAATCT others(833): Show AACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTT CTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAAC TTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTA ACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTC CTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGC TCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGA GCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGA GAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGA AGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCA GAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGT GCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGG GTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATG CGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCA ATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACCATCTCCACCCT CCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACCATCTCCAC CCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02897.hp2 others(1): Show HG02257.hp2 HG02572.hp2 HG02897.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0026 a0001c0003 a0001c0004 a0001c0026	a0001c0003t0001 a0001c0004t0012 a0001c0026t0004 a0001c0003t0001 a0001c0004t0012 a0001c0026t0004	a0001c0003t0001g0094 a0001c0004t0012g0020 a0001c0004t0012g0044 others(1): Show a0001c0003t0001g0094 a0001c0004t0012g0020 a0001c0004t0012g0044 a0001c0026t0004g0019	4	101	0.0396	-840	c.-15 others(21): Show c.-158+18689_-158+19528del		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24					chr2	TogoVar
RNF223_chr1_1065967_1079306	1077283	TCTATGGG others(833): Show TCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCTGTGCCG GGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGA CTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAG TCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGA CTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAG TCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	67	0.0149	-840	c.-41 others(11): Show c.-4117_-3278del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding				2978		chr1	TogoVar
SAMD11_chr1_918923_949574	933980	AGGGGAGG others(833): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCG GCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGG GAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGG GCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTAC AGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGC TCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGG GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	427	0.0023	-840	c.843 others(16): Show c.843-1779_843-940del		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13				INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934064	AGGGGAGG others(833): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCG GCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGG GAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGT GGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(130): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02738.hp1 HG02818.hp2 HG03041.hp2 HG03130.hp1 HG03471.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18956.hp2 NA18961.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0012 a0017 a0024 a0026 a0027	a0001c0001 a0001c0002 a0001c0004 others(13): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0017 a0002c0026 a0003c0006 a0005c0012 a0005c0043 a0005c0044 a0012c0022 a0017c0039 a0024c0047 a0026c0042 a0027c0051	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0031 a0001c0001t0032 a0001c0002t0002 a0001c0002t0020 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0011t0002 a0001c0011t0006 a0001c0017t0001 a0002c0026t0002 a0003c0006t0001 a0005c0012t0001 a0005c0043t0001 a0005c0044t0030 a0012c0022t0001 a0017c0039t0005 a0024c0047t0001 a0026c0042t0001 a0027c0051t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(98): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0003g0204 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0005g0010 a0001c0001t0005g0038 a0001c0001t0005g0140 a0001c0001t0013g0153 a0001c0001t0014g0046 a0001c0001t0014g0079 a0001c0001t0031g0097 a0001c0001t0032g0008 a0001c0002t0002g0027 a0001c0002t0020g0300 a0001c0004t0001g0005 a0001c0004t0001g0016 a0001c0004t0001g0050 a0001c0004t0001g0058 a0001c0004t0001g0059 a0001c0004t0001g0060 a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0131 a0001c0004t0003g0149 a0001c0005t0001g0018 a0001c0005t0001g0020 a0001c0005t0001g0053 a0001c0005t0001g0055 a0001c0005t0001g0065 a0001c0005t0001g0066 a0001c0005t0001g0068 a0001c0005t0001g0069 a0001c0005t0001g0075 a0001c0005t0001g0076 a0001c0005t0001g0108 a0001c0011t0002g0310 a0001c0011t0006g0026 a0001c0017t0001g0005 a0001c0017t0001g0061 a0002c0026t0002g0023 a0003c0006t0001g0088 a0003c0006t0001g0099 a0005c0012t0001g0127 a0005c0043t0001g0126 a0005c0044t0030g0152 a0012c0022t0001g0003 a0017c0039t0005g0110 a0024c0047t0001g0054 a0026c0042t0001g0047 a0027c0051t0001g0101	133	404	0.3292	-840	c.843 others(16): Show c.843-1680_843-841del		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13				INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974557	CAGGGAAA others(833): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGTCT CTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0055 a0001c0014t0002g0055	1	144	0.0069	-840	c.532 others(19): Show c.532-45460_532-44621del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11					chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974605	CAGGGAAA others(833): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGT CTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	142	0.0070	-840	c.532 others(19): Show c.532-45508_532-44669del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11					chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976093	CAGGGAAA others(833): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCT CTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC AGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCA GGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	134	0.0075	-840	c.532 others(19): Show c.532-46996_532-46157del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11					chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129855669	GAACGGGA others(833): Show GAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGGATGGGTGC CCTTGTTACGGAGTCCGGGGGAACGGGATGGCTGCCCTTGTAACGGAGTC CGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATG GGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACG GAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACG GGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTG TAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGG GAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGC CCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTC CGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATG GGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACG GAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACG GGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTG TAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGG GAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGC CCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTC CGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG02647.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0009 a0001c0002t0001 a0002c0003t0009	a0001c0002t0001g0012 a0002c0003t0009g0018 a0001c0002t0001g0012 a0002c0003t0009g0018	2	91	0.0220	-840	c.79+ others(17): Show c.79+46752_79+47591del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8					chr12	TogoVar
ZNF516_chr18_76352682_76500242	76393393	GGGGAAGG others(833): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAG CCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0150 a0002c0003t0150	a0002c0003t0150g0207 a0002c0003t0150g0207	1	331	0.0030	-840	c.181 others(21): Show c.1811-13930_1811-13091del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6					chr18	TogoVar
KCNG2_chr18_79792938_79905100	79886223	GGGGACAT others(832): Show GGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACAT AGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATG GGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGAT GGGGATGGGAACATAGGGACGTGGGGACAGGGACACGGGACAGGGAGATG GGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAG GGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACAC GGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATG GGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAG GGACATGGGGACACAAGACAGGGAGATGGGGATGGGAACATAGGGACGTG GGGACAGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGG GGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGG GACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGA ACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGG GATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACAAGACAGGG AGATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACGG GACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACA	G G	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0272 a0001c0013t0001g0272	1	303	0.0033	-839	c.625 others(19): Show c.625-12791_625-11953del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr18	TogoVar
TCF25_chr16_89868592_89916379	89901875	TGGGCCTC others(832): Show TGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAA GACGGGCCTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GACTAACACGGTGAAACCACGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGTTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCAACATAGTGAGACTCCGTCTCAAAAAAAA AGAAAAAAAAAAAAAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAG GGTGAAATCCCTCCTTAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTG AGGGTGAAATCCCTCCTTAAGATGGGCCTCCTCCGAGGGGCTGTGAGGGG TGAGGGTGAAATCCCTCCTTAAGACGGGCCTCCGGCCGGGCGCGGTGGCT CACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCTGACTAACACGGTGAAACCACGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTGTTGGCCGGCACCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAG CTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACATAG CGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAAAAAGAC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0264 a0001c0005t0001g0264	1	298	0.0034	-839	c.138 others(19): Show c.1381+1142_1382-1344del		TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20439798	AGGTGGTA others(831): Show AGGTGGTAAAGGCATTTATAGTCCTTACTCCAGCCTACTCCTCTCATGAC CCAGAGGCACTAACGCGGGAACTCCAGGAGCATGTGAAAAGGGTGACTGC TCCATACAAATACCCCAGGAAGGTAAATATCAGGGTTTCCAGGGCACAGT GATCTGGGAATCAGATGGGCACGCTCTGCCTGGGCTCCCACTCAGAGCCA GGCCCTGTGCCAGGCACTGGGGATATGGAGAAACTTGTAACCCTGGCTGC TGCTTCAGCTTTTTTCTGTATTTCTTCACTTGGATTCTCCCCAAAGCACA TTTTGTTCCTACTCTAAGAACAGCCTGATCCCTACCACAAATCAGATACA AGAGGTAGTGCTCAAATGCTGTCAAAATGATCCTGTGCTCCAGGCTCCAG CTGTTTTGCTTCTGGCCATTTAGGGGGAAACCCTGAATCAGGGACGCTTT CCAAGGACAGGCAGACAGTATTGTCTCTTTCAAAACAAAAGTCTTTTTGA GAAATGATGATTTCCAAGTGTTTTTTGTTTTGTGTTTGGTCACTAGGTGG CCTTTGTTTCAGAACTGCCAAAGACGGTTTCTGGAAAGATCCAAAGGAGT AAATTGCGAAGTCAGGAGTGGGGGAAATGAGGTGCACCCCAGGAAGGCCC CGTAGACCTCCGAAGACTCCACAAGAAACTAATGGATCACTGGTCAGTCC CCATGGGGAGCATCATCTCTTCGACCCTAAAGATGTCAAAGGTGTGCAGC TTCCAAACGGCATCCCCAGGATCACTGGGCAATGCTGGAAAGAGCAAAAG AATATCATTGGCCCTGATCACATAGATGCTGCGCCGCCT	A A	exon_loss_variant exon_loss_variant	HIGH	NA20805.hp1 NA20805.hp1	a0029 a0029	a0029c0031 a0029c0031	a0029c0031t0017 a0029c0031t0017	a0029c0031t0017g0316 a0029c0031t0017g0316	1	432	0.0023	-838	c.153 others(11): Show c.1537-1_*209del		ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	13/14					chr16	TogoVar

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