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
GALNT9_chr12_132191372_132334589	132290743	ACAGCACC others(503): Show ACAGCACCCACATCCACAGCACCCACAACCACAGCACCCACGTCCACAGC ACCCACGTCCACAGCACCCACGTCCACAGCACCCACGTCCACAGCGCACA CGTCCACAGCACCCACAACCACAGCGCCCACGTCCACATCACCCACATCC ACAGCACCCACGTCCACAGCACCCACATCCAGAGCACCCACGTCCACACC ACCCACATCCACAGCGCCCACATCCACAGCACCCACAACCACAGCACCCA CAACCACAGTGCCCACGTCCACACCACCCACATCCACAGCGCCCACGTCC ACAGCGCCCACATCCTCAGCACCCACAACCACAGCACCCACGTCCACATC ACCCACGTCCATAGCACCCACATCCACAGCACCCACATCCACAGCACCCA CAACCACAGCACCCACGTCCACAGCACCCACAACCACAGCACCCACAACC ACAGTGCCCACGTCCACACCACCCACATCCACAGCGCCCACGTCCACAGC GCCCACGTCCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(51): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG01070.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03492.hp1 HG03688.hp2 HG03834.hp1 NA18945.hp2 NA18952.hp2 NA18964.hp2 NA18966.hp1 NA18980.hp2 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19063.hp2 NA19070.hp1 NA19080.hp1 NA19091.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0013 a0001c0015 a0001c0020 a0001c0021 a0001c0022 a0001c0027 a0006c0024	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0012t0002 a0001c0013t0004 a0001c0015t0001 a0001c0020t0001 a0001c0021t0004 a0001c0022t0001 a0001c0027t0001 a0006c0024t0001	a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0042 others(51): Show a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0008g0003 a0001c0002t0001g0025 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0041 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0123 a0001c0003t0001g0128 a0001c0003t0001g0139 a0001c0003t0001g0162 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0106 a0001c0005t0001g0037 a0001c0012t0002g0180 a0001c0012t0002g0181 a0001c0012t0002g0183 a0001c0013t0004g0036 a0001c0013t0004g0095 a0001c0013t0004g0124 a0001c0015t0001g0024 a0001c0020t0001g0115 a0001c0021t0004g0155 a0001c0022t0001g0120 a0001c0027t0001g0082 a0006c0024t0001g0160	54	182	0.2967	-510	c.239 others(17): Show c.239-4823_239-4314del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
KNDC1_chr10_133155219_133231412	133222716	TGTGTGTG others(503): Show TGTGTGTGCATGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGCG TGTGCGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGTGAGAG CCCATCCAGCCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCA GGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCT CTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGG CGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTG TGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCA TCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCA TGCTCTTCCCG	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0210 a0001c0004t0002g0210	1	326	0.0031	-510	c.501 others(19): Show c.5019-1935_5019-1426del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(503): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	273	0.0037	-510	c.26 others(11): Show c.2654_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
LUZP1_chr1_23079030_23173856	23111224	ACTGATAA others(503): Show ACTGATAATAAAAACAGCTAGAAAATAAGTATAAAAAAGGATCTAGGCCA GGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAG GAGGATTGCTTGAACCCAGGAGTTCAAGAACAGCCTGGACAACAACAAAG CAAGGCCCCCATCTCTACAAAAAAAAAAAAATTTTAATTAGCTGGGCATG GTGATGCACACCTATAGTCCTAGCTACTTGGGAGACTGAGACGGGAGGAT CACCTGGAGCCCAGAAGTTTGAGGCTGCTGTGAGCCACAGTTGTCCTACT GCACTCCAGCTTAGATGACAGAGTGACGCTCTATATTTAAAAATAATTTT AAAAACGATCTATACCAAGGCGGCACCCAAGAGATAGCTTAGGTGGATGT GGGGGAAGCTTTAGCTCTCCACCCTCTGCTTTTAAAAAATAATCAATGGA AGTTAAAGTAAGTGTGATTGGTATTCAAATAGTTTTAGGACAGTTCCACA GACTTTCCGTC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0317 a0001c0001t0010g0317	1	320	0.0031	-510	c.-22 others(19): Show c.-225-2607_-225-2098del	LUZP1	ENSG00000169641.15	transcript	ENST00000302291.9	protein_coding	1/3			chr1	TogoVar
PCGF3_chr4_700832_775089	746010	CCGGGGGT others(503): Show CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01256.hp1 HG01496.hp1 others(5): Show HG01109.hp1 HG01256.hp1 HG01496.hp1 HG01928.hp2 HG01981.hp2 HG02293.hp2 HG02300.hp2 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0002c0002t0052 a0001c0001t0003 a0002c0002t0003 a0002c0002t0052	a0001c0001t0003g0038 a0002c0002t0003g0001 a0002c0002t0003g0035 others(4): Show a0001c0001t0003g0038 a0002c0002t0003g0001 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0039 a0002c0002t0052g0034	8	364	0.0220	-510	c.462 others(17): Show c.462+1324_462+1833del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746123	CCCGGGGG others(503): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0059 a0001c0001t0028g0060 a0001c0001t0028g0059 a0001c0001t0028g0060	2	351	0.0057	-510	c.462 others(17): Show c.462+1438_462+1947del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PLEKHG4B_chr5_87168_194966	164851	CAGGGGGC others(503): Show CAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACAGT AATGCTGTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGCT TACACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGG GCAGGGCTCACAGTAATGCTCTGACAGGGCGGAGCTCACACTAATGCTCT GACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAA TGCTGTGACGGGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCT CACACTAATGCTCTGACGGGGCGGGGCTCACAGTACTCCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA CGGGGCGGGGCTCACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCT CTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACT AATGCTCTGAC	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG00280.hp2 HG01081.hp2	a0020 a0023 a0020 a0023	a0020c0063 a0023c0064 a0020c0063 a0023c0064	a0020c0063t0021 a0023c0064t0012 a0020c0063t0021 a0023c0064t0012	a0020c0063t0021g0188 a0023c0064t0012g0189 a0020c0063t0021g0188 a0023c0064t0012g0189	2	175	0.0114	-510	c.347 others(19): Show c.3476+1304_3476+1813del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PRKCA_chr17_66297613_66815743	66799058	GTGGTGGT others(503): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGATGGTAATGGTGGTGGTGATGGTGGTGGTAGTGACGGTGGTGGTGGT GGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18999.hp2 HG02056.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0066 a0001c0002t0004 a0001c0002t0066	a0001c0002t0004g0031 a0001c0002t0066g0093 a0001c0002t0004g0031 a0001c0002t0066g0093	2	160	0.0125	-510	c.185 others(19): Show c.1855-4800_1855-4291del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1078715	AGGCTGAG others(503): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGCACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02818.hp2 others(8): Show HG02258.hp2 HG02280.hp1 HG02818.hp2 HG02896.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03486.hp1 HG03579.hp1 NA19240.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0009 a0002c0002 a0008c0009	a0002c0002t0004 a0002c0002t0010 a0002c0002t0015 others(1): Show a0002c0002t0004 a0002c0002t0010 a0002c0002t0015 a0008c0009t0001	a0002c0002t0004g0006 a0002c0002t0004g0043 a0002c0002t0010g0018 others(2): Show a0002c0002t0004g0006 a0002c0002t0004g0043 a0002c0002t0010g0018 a0002c0002t0015g0044 a0008c0009t0001g0045	11	321	0.0343	-510	c.-52 others(11): Show c.-5219_-4710del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4410		chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905475	TGTTCCCC others(503): Show TGTTCCCCTTCCCACCACTCTTCCTCTCCGTCCTCCTGTTCCCCTTCCTG TCACTTTTCCTCCCCCTCCTTCTGCTCCTATTCCTGCCACTGTTTCTCCC CCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCTTC TCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTTCCCGCCACTG TTTCTCCCCCTCCTTCTGCCCCCCTTCCCACCACTCTTCCTCCCCCTCCT CCTGTTCCCCTTCCTGCCACTCTTCCTCCCCCTCCTCCTGCTCCTCTTCC TGCCACTCTTCCCCTGCCACTTTTCCTTCCCCTCTTCCTGTTTCTCTTCC TACCACTCTTCTTTCTCCTCCTCCTGTTCCTCTTCCTCCCCATCCTCCTG TTTCCTTTCCCGCCACTTTTCTTCACCTCCTCCTGTTCCTCTTCCCACCA CTCTTCCCCCTCCTCCTCCTGCTCCTCTCCCACCACTCTCCCCTCTCCTC CTCCTGCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 NA20129.hp1 HG02809.hp2 HG02896.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117	3	270	0.0111	-510	c.744 others(17): Show c.744+5749_744+6258del	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11			chr1	TogoVar
THBS3_chr1_155190588_155212897	155190613	CCGGCCTG others(503): Show CCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTG GAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGG GGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACAC CGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTC GAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGT GTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAA ACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCG AGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTG TCCGGGGCCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGC CGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGG AGCCCGGGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	296	0.0034	-510	c.47 others(11): Show c.4718_*5227del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4974		chr1	TogoVar
TNK2_chr3_195858364_195913551	195880568	GCCCCCCA others(503): Show GCCCCCCAGCAATGCCCCTCGGAGAGGACACAGCATCTATCCCTGTAACA CCCCCCCAGCAATGCCCCTTGAAGAGGACACAGCATATATCCCTGTATCA CCTAACTCAGCAATGACCCTCGGAGAGGACACAGCATCTATCCCTGTAAC ACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAAC ACCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAA CACCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTAACCCTGTA ACACCCGCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCT GTAACACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCT GTAACACCCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCC CTCTAACACCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGT CCCTCTAACAC	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	366	0.0027	-510	c.887 others(16): Show c.887+973_888-1394del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
WRAP73_chr1_3625770_3655103	3643863	CGGCCCCG others(503): Show CGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCA GCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCC AGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACC CAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGAC CCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGA CCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGG ACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGG GACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGG GGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAG GGGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAA GGGGATCCAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(74): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02486.hp2 HG02523.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG03490.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18978.hp2 NA18979.hp2 NA18986.hp1 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(30): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0005g0042	77	380	0.2026	-510	c.339 others(17): Show c.339+2293_339+2802del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
ABR_chr17_998519_1184981	1163746	GGGACCCT others(502): Show GGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGGCC CCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTAGG TGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGAC CCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTAG GTGGGACCCTGGCGAAGTGTCACACACAGCACTGAATCCAGACGCAGGGG CCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTA GGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGG ACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCC AGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGG GGCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGGATC TAGGTAGGAC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02886.hp2 others(2): Show HG02055.hp2 HG02145.hp1 HG02886.hp2 HG02965.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0014 a0001c0001t0031 others(2): Show a0001c0001t0008 a0001c0001t0014 a0001c0001t0031 a0001c0001t0072 a0001c0002t0012	a0001c0001t0008g0018 a0001c0001t0014g0244 a0001c0001t0031g0241 others(2): Show a0001c0001t0008g0018 a0001c0001t0014g0244 a0001c0001t0031g0241 a0001c0001t0072g0246 a0001c0002t0012g0245	5	335	0.0149	-509	c.61+ others(17): Show c.61+15412_61+15920del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADGRA1_chr10_133082924_133136675	133136166	GTAGGGGT others(502): Show GTAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGGTC TGTTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGGGGTCTGGTCTCTG GGTCCCTGTGGTGGGGGGGGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTC TCTGGGTCCCTGTGGGGGTGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGG GTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTAGGGGTT CTGGTCGCTGGGTCCCTGTAGGCGGGTCTGGTCTCTGGGTCCCTGTGGGG GGGTTCTGGTCTCTGGGTCCCTGTGGGGGTGTCTGGTCTCTGGGTCCCTG TGGTGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCC CTGTAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGG TCCCTTTGGGGGGGTCCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCT CTGGGTCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0005 a0006c0011t0005	a0006c0011t0005g0252 a0006c0011t0005g0252	1	366	0.0027	-509	c.66 others(11): Show c.6656_*7164del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		4492		chr10	TogoVar
ALOXE3_chr17_8090900_8123514	8093455	GGGTCAAA others(502): Show GGGTCAAAGGGGCCTGCACTGCGCACCCAACAATAATACTGGCAGCTGTC ACTTACTGAGGAGCTATCACGTCTCTGTCATTGAATCAGATCCTTTGCAT ACACCATTTTAAAATATGAAACAGGCCAGGCGCGGTGGCTCACGCCTATA ATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCGCCTGAGGTTGGGAG TTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATA CAAAATTAGCCGGGGTGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCG GTGAGCCGAGATCGTGCCATTGTACTCCAGTCTGGGCAACAAGAGCGAAA ATCCGTCTCAAAGAATAATAAATAAATAAATAAATAAATAAATAAATAAA TAAATAAATAAATAAAACAAATACATAGCTCTATTTAAAATGCTTGGCAG CCAGGCGCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03471.hp1 HG03540.hp2 HG02723.hp1 HG03471.hp1 HG03540.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0002 a0007c0014t0002 a0001c0001t0002 a0007c0014t0002	a0001c0001t0002g0045 a0001c0001t0002g0335 a0007c0014t0002g0265 a0001c0001t0002g0045 a0001c0001t0002g0335 a0007c0014t0002g0265	3	420	0.0071	-509	c.26 others(11): Show c.2663_*3171del	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding		2444		chr17	TogoVar
BRF1_chr14_105204286_105306001	105236336	GAGGCCAC others(502): Show GAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGA GAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACA GCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGA GAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGA CAGCCTGACAGCCCTGTGGCACCCTCAGGAGCCACAACCTAGCATCTCAG GAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGG GACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCCACAACCTAGCATCTC AGGAGAAAAAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGG GGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCACAACCTAGCATCT CAGGAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0070 a0001c0001t0008g0070	1	70	0.0143	-509	c.694 others(17): Show c.694+4420_694+4928del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105236414	AACAACCT others(502): Show AACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTC GCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGA GCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAG TCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAG GAGCCACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGT AGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTC AGGAGCCACAACCTAGCATCTCAGGAGAAAAAGGCCACACCACTGTCCGC GTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCC TCAGGAGCACAACCTAGCATCTCAGGAGAAAAAGGCCACACCACTGTCCG CGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACC CTCAGGAGCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	70	0.0143	-509	c.694 others(17): Show c.694+4342_694+4850del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
EIF3B_chr7_2349827_2385745	2377490	GCTCCTGG others(502): Show GCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAG GAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGG TGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTG TGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGG GATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGT GTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGC TGGGATGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01175.hp1 others(9): Show HG01070.hp2 HG01071.hp1 HG01175.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02818.hp2 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0157 a0002c0002t0001g0214 others(7): Show a0002c0002t0001g0017 a0002c0002t0001g0157 a0002c0002t0001g0214 a0002c0002t0001g0221 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0245 a0002c0002t0001g0280 a0002c0002t0001g0282	12	377	0.0318	-509	c.215 others(17): Show c.2154+434_2155-672del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377509	GTGTGAAT others(502): Show GTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCACGAGCGCTCC TGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGG GTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGA TGCTGTGTTC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02486.hp1 others(3): Show HG01243.hp1 HG02280.hp1 HG02486.hp1 HG02717.hp2 HG02896.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0011 a0001c0001t0001g0274 a0001c0001t0001g0275	6	281	0.0214	-509	c.215 others(17): Show c.2154+456_2155-650del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PACS1_chr11_66065272_66249744	66205245	AAAGTGCT others(502): Show AAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAAACAATTA TTTTAATTATAAAAATTTTTTTAATGTTTTAAAGATCTGATATTTGATAG TGCAACAGGACGATTACAGTCAATGATAATTTATAGTACATTTAAAAATA ACTAAAAGTATAATTGGAATATTTGTAACATAAATAAATGATAAATGCTT GAGGCGATGGATACCCAATATAACCTGATGTGATTATTACATGTTGTATG CCTGTACCAAAATGTCTTATGTACCCCATAAATATATATGCCATGTACCC ATAAAAATTATTAGTTAAAAATTGAAATAAAGAATAAATGAAAAATAACA GCTTATTTTCAGACATCCAAGAAACCCCAACAAATTTCCTCAAATATCAC TACAATACTCTTAATTTTTTTTTTTTTTTTTTGAGAATGGGATCTCACTA TGTTGCCCAGGCAGCTCTTATACTCCTGGGCTCAAGCTATCCTTCCACCT CTGCCTCCTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03225.hp1 HG02622.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0305 a0001c0001t0001g0059 a0001c0001t0001g0305	2	320	0.0063	-509	c.445 others(17): Show c.445-5085_445-4577del	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
THBS3_chr1_155190588_155212897	155190771	GGGGGGGC others(502): Show GGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTCGAGGTGAC ACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGG GGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCT GGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCGAGGTGACA CCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGC CGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGG TGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGG GCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGT GGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTG GGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACA CCGTGGGCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02976.hp1 HG03041.hp1 others(1): Show HG01891.hp2 HG02976.hp1 HG03041.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0003t0001g0021 a0002c0002t0001g0003 a0001c0001t0001g0005 a0001c0003t0001g0021 a0002c0002t0001g0003	4	294	0.0136	-509	c.45 others(11): Show c.4561_*5069del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4816		chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179313387	CCGAGACA others(501): Show CCGAGACAGAGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGACG CACACGCATTCACACTCATGCACACACTCACACCGAGACAGAGGAGGGCC TGGCCAGAGCAGGGGTGTCAGCAGAGGGGACGCACACGCATTCACACTCA TGCACACACACACATCGAGACAGAGGAGGGCCTGGCCAGAGCAGGGGTGT CAGCAGAGGGGACGCACAAGCATTCACACTCATGCACACACACACTCACA CCGAGACAGAGGAGGGCCTGGCCGGAGCAGGGGTGTCAGCAGAGAGGACG CACACGCATTCACACTCGTGCACACACACACTCACACCGAGACAGAGGAG GGCCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGACGCACAAGCATTCACA CTCATGCACACACACACTCACACCGAGACAGAGGAGGGCCTGGCCGGAGC AGGGGTGTCAGCAGAGGGGACGCACACGCATTCACACTCGTGCACACACA CACTCACAT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0273 a0002c0005t0003g0273	1	195	0.0051	-508	c.534 others(19): Show c.534+29872_534+30379del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
C7orf50_chr7_992006_1143247	1127635	AGGCTGGA others(501): Show AGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGC AGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTC GGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATC TCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCAC CGTCACCCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp1 HG02965.hp2 HG01884.hp1 HG02886.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0298 a0002c0002t0003g0302 a0002c0002t0003g0303 a0001c0001t0002g0298 a0002c0002t0003g0302 a0002c0002t0003g0303	3	217	0.0138	-508	c.-1- others(13): Show c.-1-757_-1-250del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127701	AATCTCGG others(501): Show AATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATC TCAGCTCATCTCACCGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGG CTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCA TCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCC TGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCTCACCGTCACCCGGGC TGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCGCC	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0184	1	210	0.0048	-508	c.-1- others(13): Show c.-1-823_-1-316del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12693968	TATATAAT others(501): Show TATATAATATATATTATATATACATATAATATATATAATATATATTAAAT ATATATAATATATATAAAATATACATATAATATATATTATATATATAATA TATAAAAAATATTATGTATAATATATATTATATAATATATAATATATATT ATGCATAATATATATTATATATAATATAATATATAATATATATTATGCAT AATATATATTATATATAATATAATATATATTATATATTATGTATAATATA AAATATATATTATGTATAATATATAATATATATTATGTATAATATATAAT ATATATTATACATAATATAAAATATATATTATATATAAAATATATAAAAT ATAATATATAAAGTATATATAATATATAACATATATATGTTATATGTTAT ATATAAAATATAAAATATATATGTTATATATCATATATAAAATATAAAAT ATATATGTTATATATCATATATAAAATATGAAATATATATGTTATATATC ATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02040.hp2 HG03486.hp1 others(5): Show HG01069.hp2 HG02040.hp2 HG03486.hp1 HG03491.hp2 HG04184.hp2 NA18906.hp1 NA18954.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 others(5): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 a0001c0001t0033 a0001c0001t0036 a0001c0001t0043 a0001c0001t0086 a0001c0002t0051	a0001c0001t0002g0139 a0001c0001t0011g0009 a0001c0001t0018g0013 others(5): Show a0001c0001t0002g0139 a0001c0001t0011g0009 a0001c0001t0018g0013 a0001c0001t0033g0186 a0001c0001t0036g0022 a0001c0001t0043g0026 a0001c0001t0086g0181 a0001c0002t0051g0178	8	214	0.0374	-508	c.299 others(19): Show c.299+27164_299+27671del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FBLN7_chr2_112133385_112193218	112139421	GGCCAGTG others(501): Show GGCCAGTGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTC TCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCC TCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCC CGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCTAGTGTCC CTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGGTCAGC GTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCACGC CAGTGTCCCTCCCGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTCTCC ACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCT CTCCAGGCCAGTGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGC CTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTCTCCCCTGTCCCGCGCGCC TCTCTCCAT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02145.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	335	0.0060	-508	c.75+ others(14): Show c.75+705_75+1212del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
LMF1_chr16_848634_975984	952939	AACCAGCC others(501): Show AACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCCTCCTACAT ATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCC CAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAACCAGCCTC CTACACGTCCACACAGACACCCCAAACCAGCCTCCTACATATCCACACAG ACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACC AGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAT GTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGAC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAG CTTCCTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTACACGT CCACACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACAC GGACCCCAC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	292	0.0034	-508	c.503 others(16): Show c.503+910_503+1417del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953477	CCACCCCA others(501): Show CCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCC TCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACAC AGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAA CCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACATGT CCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACAC CCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACC AGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAT GTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGAC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAG CTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGT CCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03491.hp2 HG03654.hp2 others(5): Show HG01106.hp1 HG03491.hp2 HG03654.hp2 NA18947.hp2 NA18973.hp2 NA18982.hp2 NA19003.hp1 NA19088.hp2	a0001 a0022 a0023 a0001 a0022 a0023	a0001c0001 a0001c0003 a0022c0063 others(1): Show a0001c0001 a0001c0003 a0022c0063 a0023c0059	a0001c0001t0001 a0001c0001t0017 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0017 a0001c0003t0001 a0022c0063t0001 a0023c0059t0002	a0001c0001t0001g0134 a0001c0001t0001g0195 a0001c0001t0001g0196 others(5): Show a0001c0001t0001g0134 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0017g0197 a0001c0003t0001g0133 a0022c0063t0001g0186 a0023c0059t0002g0199	8	279	0.0287	-508	c.503 others(15): Show c.503+372_503+879del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRP2_chr2_169122109_169367534	169326874	TCTGGGAT others(501): Show TCTGGGATGTGAGGAGTGCCTCTGCCCGGCGGCGACCCCGTCTGGGAGGT GAGGAGCGTCTCTGCCCAGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCC ACCCAGCATCCGCCCCATCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGC CACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCGCCCAGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCACGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18982.hp2 NA18979.hp2 NA18982.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0014 a0001c0005t0002g0024 a0001c0005t0002g0014 a0001c0005t0002g0024	2	248	0.0081	-508	c.80- others(15): Show c.80-6498_80-5991del	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
MAN1C1_chr1_25611791_25789450	25767759	CTCACATA others(501): Show CTCACATAATCCACACTCCCCTAACACACACGCATTACACACTCCCCTCA CGTACATCCACACTCCCCTCACACACACTACACACACATTACATACACTC CCCCCACACACTCCCCTCACATACATTCACACTCCCCTCATACACACACA TTACACACTCCCCCACACAGACCCACACACCCACACTCCCCTCACATACA TCCACACTCCCCTCACACACACCACACACACATTACATACACTCCCCCAC ACACACAGACCCACACACCCACACTCCCCTCACATACATCCACACTCCCC TCACACACACACACACTCCCCCCCACACACAGACCCACACACCCCTCACA TACATCCACGCTCCCTTAACACACACACACTACATACACTCCCCCTACAT ACACTCCCCTCACACACCCACAGTCCCCTCACATACATCCACACTCCCCT CACACATACACACATTACACACACTCCCCTCACACACATCCACACTCCCC TCACACACA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0154 a0001c0002t0003g0154	1	248	0.0040	-508	c.114 others(19): Show c.1141+3800_1142-3383del	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MVB12B_chr9_126321829_126512040	126484856	TTCCACTG others(501): Show TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCGTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAGGT CAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGC TTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAGGTCAGGGTACCTT CCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTC AGGGTACCG	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	316	0.0032	-508	c.873 others(16): Show c.873+883_873+1390del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RNF223_chr1_1065967_1079306	1076227	TGGCTGAG others(501): Show TGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGCTGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGG AGGCTGAGTCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGCAGGCTGAGGCT ATGGTGACTCCGTGCAGGGCTGTGAGGCTACGGGGACTCCGTGGGGGGTG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG01243.hp2 others(9): Show HG01106.hp1 HG01109.hp2 HG01243.hp2 HG02055.hp2 HG02145.hp1 HG02300.hp1 HG02486.hp2 HG02630.hp2 HG02809.hp1 HG02895.hp2 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0006g0011	12	301	0.0399	-508	c.-27 others(11): Show c.-2729_-2222del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1922		chr1	TogoVar
SARDH_chr9_133658560_133743352	133668716	CACCCTCC others(501): Show CACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTC TCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTC CCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCATCTC CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCT CTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCT CACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTT ACCCTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCAC CCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACC CTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTT CCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCC CTCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	185	0.0054	-508	c.249 others(19): Show c.2495+1360_2496-1847del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1289062	TCTGCTCC others(501): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0006 a0011c0022t0006	a0011c0022t0006g0131 a0011c0022t0006g0131	1	274	0.0036	-508	c.166 others(18): Show c.1662+1038_1663-689del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SVEP1_chr9_110360248_110584741	110434549	GTGGTAGC others(501): Show GTGGTAGCATCACCAAGTCAATGATTTCAAACTGTATTCTGTATCAGCAT TTGAGAGCCACCTTACTGATGTGAAAACAAGTTAACATGTAACCAGATCA CTGGCAAGCAAAATCACTAAAAAAAAAAAAAAAAAAAAGCATTTAAGTCA ATAACTCTCCCTCTTTCAAAATATTTTAGGAATGTCAATGAAATGTTCTT GTAAGTTATCAAAAGCCATAAATTCTAGGACAGTCTAAGAAACTCATTTA AATAAATTTGATTTTATGATACAGTTTTGATCATTCAGTTTTAGTGTGCA GATTGCAACATCCATCGCTTTTCTCCCTGTGCTACCTGTTCCTAGATACC TTCTACAAATTATAGAACCAAAAGAGTACCCCATCTCAAACAGGTGCATA GTATGTCGGTGGGCCTTGAAAAAAATAACCTCATTTCTTCTCTAATTTTC CTGATATTATTTTACTTTCATCCAAATTTCCTAATTATATTTTGTTATAC AGAATATAT	G G	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0026 a0026	a0026c0018 a0026c0018	a0026c0018t0003 a0026c0018t0003	a0026c0018t0003g0156 a0026c0018t0003g0156	1	360	0.0028	-508	c.488 others(16): Show c.4888+184_4889-44del	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	29/47			chr9	TogoVar
THBS3_chr1_155190588_155212897	155190651	GCGGGCGC others(501): Show GCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGAC ACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGG CCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTG GTGTCCGGGGTCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGG GGCCGGCCTGGTGTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTC CGGGGTTGGAAAACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGG GGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGG GCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTTGGGGGGCGGT GGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTG CGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACA CCGTGGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	285	0.0035	-508	c.46 others(11): Show c.4682_*5189del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4936		chr1	TogoVar
THBS3_chr1_155190588_155212897	155190711	GGGGGGGC others(501): Show GGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGAC ACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGG TCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTG GTGTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGA AAACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGC CGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGG TGTCCGGGGCCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGG GCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGT GGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTG GGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACA CCGTGGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG03098.hp2 NA19030.hp1 HG02895.hp2 HG03098.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0005 a0001c0001t0001g0017	3	295	0.0102	-508	c.46 others(11): Show c.4622_*5129del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4876		chr1	TogoVar
THBS3_chr1_155190588_155212897	155190772	GGGGGGCG others(501): Show GGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTCGAGGTGACA CCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGGG GGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCTG GGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCGAGGTGACAC CGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCC GAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGT GTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGG CGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTG GAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGG GGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACAC CGTGGGCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02647.hp1 HG01109.hp1 HG02486.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0005 a0001c0003t0001g0021 a0001c0001t0001g0005 a0001c0003t0001g0021	3	280	0.0107	-508	c.45 others(11): Show c.4561_*5068del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4815		chr1	TogoVar
TUBGCP2_chr10_133273635_133313872	133291236	GCCCTCCG others(501): Show GCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTC CCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGT CCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTG TCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGT CCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGG GGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCA TGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCC CTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCC TCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTG TCCCCGTGT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18522.hp1 HG02886.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0172 a0002c0003t0002g0094 a0001c0001t0002g0172 a0002c0003t0002g0094	2	274	0.0073	-508	c.121 others(18): Show c.1214+755_1214+1262del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
CDK13_chr7_39945256_40104580	40048595	AAAGAATT others(500): Show AAAGAATTTTAAAATTATTTTATGACAATTTTGTCATTTCTTTAATATCA CCATAATTTAATATAATGAAACATCAGTTGATTGCAGTCTTAGGAATAGA TGTTTACTTTCATTTAATCTTTGCTTTTTTTGGTTAAAGCAATAAACAAA AACTCTCGTTTGAATTTTTCAGAGTAAAAAGTCTTATTTTGTTAAATCTT GCAGCGCCTGTGACATAATTCTGGAAAGTATTTTCCTTATATAGTGTTCT AGAGTAGAGGTTTATAAGTGATATGTTTTGGATCTATTCAAGTTCCATGA AACCCCTCAGAAAGTGTGCAGTGGGCCAGGCGCAGTGGCTCATGCTTGTA CAAATCCCAGCACTTTGGGAGGCAGAGGCAGGCGGATCACTTGAGGGTCA GCACTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAA AATAGCTGGGCTTGGTGGTGCACGCCTATAATCCCAGCTACTTGGGAGGC TGAGGCAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp1 HG02970.hp1 others(3): Show HG02622.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0255 a0001c0004t0004g0256 a0001c0004t0004g0257 others(3): Show a0001c0004t0004g0255 a0001c0004t0004g0256 a0001c0004t0004g0257 a0001c0004t0004g0258 a0001c0004t0004g0264 a0001c0004t0004g0265	6	320	0.0188	-507	c.260 others(18): Show c.2600+725_2600+1231del	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRCH3_chr3_197786254_197893436	197824304	CCACCCGC others(500): Show CCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCA CGCCCGGCTTTTTTTTTTTTTTTCCCCTGGAGGTAATAGTTTCTTATCTT TTTATATGCTTATTTTTATGTGTGTCTATGGCTAATTCCACCCTCTTTTT CCAGCAGGCTTTCTGGTCAGACCAGATTCTCTATCCCTTTTTTCCCTGCA CTTCCACCTCACTGAGCCCTTTTTTTCTCTTCTGATGTGGACTGGCTGTT CTCTAGTATTGCTGCCCAGCTTTTTTTTTTTTTGAGACAGTCTCACTCTG TCACCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACGGTAACCTCTG CCCCCCCGTCCCGGGTTCAAGTGATTCTCTGCCTCAGCCTCCCAAGTAGC TGGGATTATAGGAGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAG TAGAGATGGGGTTTTACCATCTTGGCCAGGCTGGTCTTGAACTTCTGACC TCGTGATT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01978.hp1 HG02273.hp1 others(14): Show HG00558.hp2 HG01978.hp1 HG02273.hp1 HG02572.hp2 HG02602.hp1 HG02970.hp2 HG03688.hp2 HG03704.hp2 NA18612.hp1 NA18943.hp2 NA18953.hp2 NA18964.hp1 NA18966.hp2 NA18984.hp2 NA18988.hp1 NA19009.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 others(10): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0001t0033 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0071 a0001c0004t0003 a0001c0004t0061 a0001c0007t0001 a0002c0003t0055	a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0010g0024 others(14): Show a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0010g0024 a0001c0001t0010g0037 a0001c0001t0014g0022 a0001c0001t0033g0038 a0001c0002t0001g0023 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0004g0028 a0001c0002t0005g0026 a0001c0002t0010g0027 a0001c0002t0071g0035 a0001c0004t0003g0030 a0001c0004t0061g0029 a0001c0007t0001g0033 a0002c0003t0055g0031	17	290	0.0586	-507	c.641 others(17): Show c.641-2526_641-2020del	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
SH3TC2_chr5_148977150_149068062	149045463	CACATTCT others(500): Show CACATTCTTAATTGTTTTAACACATGTATTTCTAAGAGGTGCAATTGGAA ATGCAAGGATATGCACATTTTCAATCCTAAAATGCAGTCACCCAACTGTC CCCCAGGAAGGCTTTCCAATTTACATGCTCACAAGGAGAGTGACAGGAAG ACTATAAGCCTCTTGGGGGTTTTTTTGTTTTCTTTTGTTTTGTTTTTTTA GACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGCAGTGGCGCAAT CTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCCCCTGCCT CAGCCTCTCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCTTGGCTA ATTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGG TCTCGATCTCTTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCACCCGGCCTGGTTTTTTTATAATACC TAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp2 HG02109.hp1 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0031 a0002c0003t0120 a0002c0003t0031 a0002c0003t0120	a0002c0003t0031g0241 a0002c0003t0120g0242 a0002c0003t0031g0241 a0002c0003t0120g0242	2	324	0.0062	-507	c.280 others(16): Show c.280-1332_280-826del	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	3/16			chr5	TogoVar
ADARB2_chr10_1172313_1742525	1238706	CCCTGCAT others(499): Show CCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCC GGTGTTTACTCCCCTCTCCCTCCCTCTGGCGATACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTCACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGAGTTTACT CCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0033 a0001c0007t0033	a0001c0007t0033g0041 a0001c0007t0033g0041	1	105	0.0095	-506	c.136 others(19): Show c.1361+2919_1361+3424del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AHRR_chr5_316714_443285	391841	TGAGGCAG others(499): Show TGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGT GAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGGC GCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGCG CAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGC AGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGG CAGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGA GGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAG GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGATGAGG GCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGG CGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGC GCAGGGC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	197	0.0051	-506	c.351 others(19): Show c.351+15247_351+15752del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CACNG7_chr19_53904278_53948950	53920561	GTTGTCCC others(499): Show GTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTATTGG TGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCAT TGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGACTTGCTCCAGGTCTGG TCATTGGTGGAGCTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTC TGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAG GCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCC CAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTT GTCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGG ACTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGT GGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATT GGTGGAC	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	364	0.0027	-506	c.424 others(17): Show c.424+5060_424+5565del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDH4_chr20_61247261_61945617	61273008	TATTGGGG others(499): Show TATTGGGGGAGTACCATGTGCAGTTTGGGGGAGGACCACGTGCAGTTTGG GGGAGGACCATGTGCAGTTTGGGGGAGTATTGGGGGAGTACCACGTGCAG TTTGGGGGAGGACCATGTGCAGTTTTGGGGAGTACCGTGTGCAGTTTGGG GGAGTATTGGGGGAGTACCATGTGCAGTTTGGGGGAGCACCATGCGCAGT TTGGGAGAGTACCTTGTGCAGTTTGGGGGAGTACAGTGTGCAGTTTAGGG GAGTACCGTGTGCAGTTTGGGGGAGTATTGGGGAAGTACCATGTGCAGTT TGGGGGAATACCATGTGCAGTTTGGGAGAGTACCTTGTGCAGTTTGGGGG AGTACCGTGTGCAGTTTAGGGGAGTACCGTGTGCAGTTTGGGGGAGTATT GGGGGAGTACCATGTGCAGTTTGGGGGAGGACCATGTGCAGTTTGGGGGA GGACCATGTGCAGTTTGGGGGAGTATTGGGGGAGTACCACGTGCAGTTTG GGGGAGG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0028 a0002c0008t0001g0028	1	106	0.0094	-506	c.169 others(19): Show c.169+18073_169+18578del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EXD3_chr9_137301896_137428162	137341658	GGGAGTCA others(499): Show GGGAGTCAGAGGAAACGGGGCTCAGGCACCAGGAGCCGTCTCCCAGGAGT CAGAGGAAACGGGGCTCAGGCACCAGGAGCCGTCTCCCAGGAGTCAGAGG AAACGGGGCTCAGGCACCAGGAGCCGTCTCCCAGGGGAGTCAGAGGAAAC AGGGCTCAGGCACCAGGAGCCGTCTCCCAGGAGCCGTCTCCCAGGGGAGT CAGAGGAAACAGGGCTCAGGCACCAGGAGCCGTCTCCCAGGGGAGTCAGA GGAAACAGGGCTCAGGCACCAGGAGCCGTCTCCCAGGAGTCAGAGGAAAC GGGGCTCAGGCACCAGGAGCCGTCTCCCAGGAGTCAGAGGAAACGGGGCT CAGGCACCAGGAGCCGTCTCCCAGGAGTCAGAGGAAACGGGGCTCAGGCA CCAGGAGCCGTCTCCCAGGGGAGTCAGAGGAAACGGGGCTCAGGCACCAG GAGCCGTCTCCCAGGAGTCAGAGGAAACGGGGCTCAGGCATCAGGAGCCG TCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02896.hp1 HG01884.hp1 HG02615.hp1 HG02896.hp1	a0002 a0009 a0015 a0002 a0009 a0015	a0002c0002 a0009c0020 a0015c0022 a0002c0002 a0009c0020 a0015c0022	a0002c0002t0001 a0009c0020t0001 a0015c0022t0001 a0002c0002t0001 a0009c0020t0001 a0015c0022t0001	a0002c0002t0001g0036 a0009c0020t0001g0005 a0015c0022t0001g0038 a0002c0002t0001g0036 a0009c0020t0001g0005 a0015c0022t0001g0038	3	74	0.0405	-506	c.199 others(19): Show c.1998+5907_1998+6412del	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
GRTP1_chr13_113319163_113369130	113346348	GGACCCAG others(499): Show GGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGT GGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGG ACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGG ACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGG CAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGG ACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGG ACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCA GAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGAC CTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGAC CCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGAC AAGAGCA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp1 HG02895.hp2 HG02559.hp1 HG02717.hp1 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0281 a0002c0002t0001g0283 a0002c0002t0002g0282 a0002c0002t0001g0281 a0002c0002t0001g0283 a0002c0002t0002g0282	3	157	0.0191	-506	c.466 others(17): Show c.466-1895_466-1390del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
LMF1_chr16_848634_975984	949715	ACGACAGA others(499): Show ACGACAGAGTCAGAGACGACAGAGTCAGAGACGACAGAGTCAGAGCCAAT GACAGAGTCAGCCAATGACAGAGTCAGAGCCAACGACAGAGTCAGCCAAT GACAGAGTCAGAGACAACGACAGAGTTAGAGACAACGACAGAGTCAGCCA AGGACAGCGTCAGCCAACGACAGAATCAGAGACAACGACAGAGTCAGCCA ACGACAGAGTCAGAGCCAATGAGAGTCAGAGCCAACGACAGAGTCAGAGA CGACAGAGTCAGAGCCAACGACAGAGTCAGCCAACGACAGAGTCAGAGCC AACGACAGAGTCAGCCAACGACAGAGTCAGAGCCAACGACAGAGTCAGCC AACGACAGAGTCAGAGACAACGACAGAGTCAGAGCCAACGACAGAGTCAG AGACGAAAGACTCAGAGCCAATGACAGAGTCAGAGCCAATGACAGAGTCA GCCAACGACAGAGTCAGAGCCAACGACAGAGTCAGCCAATGACAGAGTCA GAGACAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0127 a0004c0027t0001g0127	1	292	0.0034	-506	c.503 others(17): Show c.503+4136_503+4641del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar

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