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
NPRL3_chr16_80386_143673	81857	G G	GCTGACCC others(449): Show GCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGC TCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCC TGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAA GGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCT CCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCAC CCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTC CCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCC CTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCG CTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCT CCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02056.hp1 NA18993.hp2 HG00423.hp2 HG02056.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0067	3	350	0.0086	456	c.48 others(467): Show c.4847_*4848insTGTGGGGAGCATTCAGGAGGCCTTCCCGGAGATA GGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCC GGAGGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGG CCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATT CAGGAGGGCTTCCTGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGG GAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCA GCGTGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAA GGGGCCAGCGTGGGGAGCATTCAGGAGGGCTTCCCGGAGATAGGGTGGTG GGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGGCTTCCTGGAGGTAG GGTGGTGGGAAGAAGGGGTCAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3528		chr16	TogoVar
OR1F1_chr16_3183204_3211556	3197778	G G	GGAGGGAG others(449): Show GGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGG AGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(51): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00738.hp1 HG01069.hp2 HG01109.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG02055.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02486.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02895.hp1 HG02976.hp2 HG03098.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03654.hp1 HG03704.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18950.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19060.hp2 NA19080.hp1 NA19080.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0002c0002t0001 a0004c0004t0003 a0005c0005t0003 a0005c0005t0014	a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0026 others(48): Show a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0137 a0001c0001t0002g0155 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0188 a0001c0001t0002g0200 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0268 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0220 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0235 a0001c0001t0003g0272 a0001c0001t0006g0280 a0001c0001t0008g0027 a0001c0001t0009g0012 a0001c0001t0015g0030 a0001c0001t0017g0061 a0001c0001t0019g0158 a0001c0001t0031g0103 a0001c0001t0032g0027 a0001c0001t0033g0101 a0001c0001t0036g0013 a0002c0002t0001g0197 a0002c0002t0001g0238 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0001g0275 a0004c0004t0003g0025 a0004c0004t0003g0190 a0004c0004t0003g0233 a0004c0004t0003g0259 a0005c0005t0003g0198 a0005c0005t0003g0228 a0005c0005t0014g0021	54	328	0.1646	456	c.-12 others(473): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3197778	G G	GGAGGGAG others(449): Show GGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGG AGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAAGGA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19077.hp2 NA19079.hp2 NA18982.hp2 NA19077.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009	a0001c0001t0003g0217 a0001c0001t0008g0248 a0001c0001t0009g0242 a0001c0001t0003g0217 a0001c0001t0008g0248 a0001c0001t0009g0242	3	328	0.0092	456	c.-12 others(473): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3197778	G G	GGAGGGAG others(449): Show GGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGG AGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG01361.hp2 others(6): Show HG00735.hp1 HG01243.hp1 HG01361.hp2 HG02080.hp2 HG02683.hp2 HG02698.hp2 HG03710.hp2 HG03834.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010	a0001c0001t0003g0023 a0001c0001t0003g0215 a0001c0001t0003g0271 others(5): Show a0001c0001t0003g0023 a0001c0001t0003g0215 a0001c0001t0003g0271 a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0109 a0001c0001t0007g0148 a0001c0001t0010g0243	9	328	0.0274	456	c.-12 others(473): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3197778	G G	GGAGGGAG others(449): Show GGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGG AGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAGGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	328	0.0031	456	c.-12 others(473): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3197778	G G	GGAGGGAG others(449): Show GGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAGGG AGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAAGGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03704.hp2 HG03490.hp1 HG03492.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0216 a0001c0001t0003g0257 a0001c0001t0010g0256 a0001c0001t0003g0216 a0001c0001t0003g0257 a0001c0001t0010g0256	3	328	0.0092	456	c.-12 others(473): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3197859	G G	GGGAGAGG others(449): Show GGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGA GGGAGAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0112 a0002c0002t0004g0112	1	328	0.0031	456	c.-12 others(473): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OTOF_chr2_26452203_26483124	26476589	C C	CCCCCACC others(449): Show CCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCC CCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACC TCCTTCCCCACCCCTTCCCCCCACCTCCTTCCCCACCCCTTCCCCCACCC CTTCCCCCACCCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCT TCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CGTCCTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0093 a0001c0003t0001g0093	1	330	0.0030	456	c.436 others(471): Show c.436-273_436-272insAAGGACGTGGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGT GGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG GAAGGGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAG GAGGTGGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGG AGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAG GTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGT GGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGAAGGAGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476589	C C	CCCCCACC others(449): Show CCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCC CCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACC TCCTTCCCCACCCCTTCCCCCCACCTCCTTCCCCACCCCTTCCCCCACCC CTTCCCCCACCCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCT TCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTC CCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCC CACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CGTCCTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0121 a0001c0032t0001g0121	1	284	0.0035	456	c.267 others(473): Show c.2677-273_2677-272insAAGGACGTGGGGGAAGGGGTGGGGAAGG AGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGG GTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGT GGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGG GGGAAGGGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGA AGGAGGTGGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAA GGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGG AGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGG GTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGT GGGGGAAGGGGTGGGGAAGGAGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
P2RX5_chr17_3668227_3701155	3685848	C C	CCCAGCCT others(449): Show CCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGG GACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGA ACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGC CCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC ACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACG TCCCCCG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0154	1	362	0.0028	456	c.981 others(473): Show c.981+2163_981+2164insCGGGGGACGTTGGGAGGGTCCCTGGGGG CCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGT TGGGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGG GCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGTGTT CTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGTCC CGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGGCGGGGGACGTTG GGAGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGA GGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCGTTCTCCTGTTC TGAGGCTGGGCGGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCC GCTGTGTGTTCTCCTGTTCTCAGGCTGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(449): Show CTATAGTGACTTAACGGAGGGCACTGTGTATGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGAGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGGG CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTG ACTTAACGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCACT GTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGAC TTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGACCGT GTGGTGT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0167 a0003c0002t0001g0167	1	399	0.0025	456	c.125 others(471): Show c.125-992_125-991insACACCACACGGTCCCTTCCGTTAAGTCACT ATAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCC CCTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTAT AGCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCT CCGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAG CACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTC CGTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACA CACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCTCTCCGT TAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCATAC ACAGTGCCCTCCGTTAAGTCACTATA	PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18			chr1	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(449): Show CTATAGTGACTTAACGGAGGGCACTGTGTATGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGGA CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTG ACTTAACGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCACT GTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGAC TTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGACCGT GTGGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0138 a0002c0003t0002g0138	1	399	0.0025	456	c.125 others(471): Show c.125-992_125-991insACACCACACGGTCCCTTCCGTTAAGTCACT ATAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCC CCTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTAT AGCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCT CCGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAG CACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTC CGTTAAGTCACTATAACACACACGGTGTCCTCCGTTAAGTCACTATAACA CACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCCGT TAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCATAC ACAGTGCCCTCCGTTAAGTCACTATA	PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18			chr1	TogoVar
PCBP3_chr21_45638725_45947450	45909853	G G	GCCCACCC others(449): Show GCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACG GACCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCA GATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCA CTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCGG CCCACCCACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGATACGG ACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCA GATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCC ACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCC CCCACCCACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGATACGG ACCCCCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	292	0.0034	456	c.471 others(471): Show c.471+369_471+370insCACCCACTGCCCAGATACGGACCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC GGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATAC GGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTG CCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCTCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGAT ACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGC CCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCTCCAC CCACTGCCCAGATACGGACCCCCTCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(449): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGA CGGGGAGGAGGAGGGGGAGGGGAGGAGGACGGGGAGGAGGAGGGGAGGGG GAGGAGGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGCAGGAGGAGG AGTGGGAGGTGGAGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGAG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	115	0.0087	456	c.305 others(477): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGC GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGG AGGAGGAGGGGGAGGGGAGGAGGACGGGGAGGAGGAGGGGAGGGGGAGGA GGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGCAGGAGGAGGAGTGG GAGGTGGAGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGG AGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(449): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0023 a0001c0004t0001g0023	1	436	0.0023	456	c.-26 others(467): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(449): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0023 a0001c0004t0001g0023	1	436	0.0023	456	c.-26 others(467): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(449): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19074.hp2 NA19066.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	2	436	0.0046	456	c.-26 others(467): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(449): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	456	c.-26 others(467): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(449): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	456	c.-26 others(467): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(449): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18906.hp2 HG03225.hp1 NA18906.hp2	a0007 a0026 a0007 a0026	a0007c0008 a0026c0044 a0007c0008 a0026c0044	a0007c0008t0016 a0026c0044t0015 a0007c0008t0016 a0026c0044t0015	a0007c0008t0016g0014 a0026c0044t0015g0134 a0007c0008t0016g0014 a0026c0044t0015g0134	2	166	0.0121	456	c.633 others(473): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDE10A_chr6_165322289_165668241	165619416	A A	AGCCTAGT others(449): Show AGCCTAGTGTAGTGTAGGCTAGGGTAGGCTAGTGTAGGCTAGTGTAGTGT AGTAGTGTAGTCTAGTGTAGTGTAGTCTAGTGTAGTCTAGTATAGTGTAG TGTAGTCTAGTGTACTGTAGTGTAGTATAGTGTAGTCTAGTGTGGTGTGG TGTGGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCAG TGTAGTCTAGTGTAGTACAGTCTAGTGTAGTCTAGTATAGTGTAGTCCAG TGTAGTGTAGTATAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTAG TGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTGTAGTCTAGTGTAG TCTAGTGTACTGTAGTGTAGTGTAGTGTAGTGTAGTGTAGTCTAGTGTAC TGTAGTGTAATGTAGTCTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAG TGCATTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0205 a0002c0012t0001g0205	1	222	0.0045	456	c.865 others(475): Show c.865+42530_865+42531insCAATGCACTACACTACAGTACACTAG ACTACACTAGACTAGACTACATTACACTACAGTACACTAGACTACACTAC ACTACACTACACTACACTACAGTACACTAGACTACACTAGACTACACTAC ACTACACTACACTACAGTACACTAGACTACACTAGACTACACTACACTAC ACTACAGTACACTAGACTATACTACACTACACTGGACTACACTATACTAG ACTACACTAGACTGTACTACACTAGACTACACTGCACTACACTACAGTAC ACTAGACTACACTAGACTACACTACACCACACCACACCACACTAGACTAC ACTATACTACACTACAGTACACTAGACTACACTACACTATACTAGACTAC ACTAGACTACACTACACTAGACTACACTACTACACTACACTAGCCTACAC TAGCCTACCCTAGCCTACACTACACTAGGC	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(449): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAA AGAAAGAAAGAAGAAGAAGAAAGAAAGAAGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGAAGGAAAAGAAAAGAAAAGAAAGAAGAAA GAAAGAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	342	0.0029	456	c.20- others(471): Show c.20-3989_20-3988insTTCTTTCTTTCTTCTTTCTTTTCTTTTCTT TTCCTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT CTTTCTTTCTTCTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PKP3_chr11_389209_409908	401787	C C	CCCCGCTC others(449): Show CCCCGCTCACCCCCGACCCGCTCACCCCGACCCGCTCACCCCGGGCCCCG CTCACACCCGACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCAC CCCCGACCCGCTCACCCCCGACCCGCTCACCCCCAGCCCCGCTCACCCCC GACCCGCTCACCCCGGACCCTGCTCACACCGGACCCCGCTCACACCCCGG CCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCG CTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTC ACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCC CGGCCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGA CCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGGCCC CCGCTCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	216	0.0046	456	c.173 others(475): Show c.1737+1085_1737+1086insGCTCACCCCCGACCCGCTCACCCCGA CCCGCTCACCCCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCAC CCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCTGCTCACACC GGACCCCGCTCACACCCCGGCCCCGCTCACACCCGACCCGCTCACCCCCG ACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCC GCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTC ACCCCCGGCCCCGCTCACCCCGGCCCCCGCTCACCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGG ACCCCGCTCACCCCCGGCCCCCGCTCACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(449): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTT TGCAACACAGGAAGAGGTGGCGGCCCTATCACTGTGCTGGTTCTGTGAGG AGTAGAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp1 HG03225.hp2 HG02055.hp1 HG02723.hp1 HG03225.hp2	a0007 a0013 a0075 a0007 a0013 a0075	a0007c0039 a0013c0180 a0075c0184 a0007c0039 a0013c0180 a0075c0184	a0007c0039t0003 a0013c0180t0003 a0075c0184t0003 a0007c0039t0003 a0013c0180t0003 a0075c0184t0003	a0007c0039t0003g0102 a0013c0180t0003g0101 a0075c0184t0003g0103 a0007c0039t0003g0102 a0013c0180t0003g0101 a0075c0184t0003g0103	3	358	0.0084	456	c.326 others(473): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCACCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCC TGTGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(449): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTA GACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTA TCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTG CAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAG TAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCC TATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTT TGCAACACAGGAAGAGGTGGCGGCCCTATCACTGTGCTGGTTCTGTGAGG AGTAGAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp1 HG03225.hp2 HG02055.hp1 HG02723.hp1 HG03225.hp2	a0007 a0011 a0071 a0007 a0011 a0071	a0007c0035 a0011c0156 a0071c0160 a0007c0035 a0011c0156 a0071c0160	a0007c0035t0003 a0011c0156t0003 a0071c0160t0003 a0007c0035t0003 a0011c0156t0003 a0071c0160t0003	a0007c0035t0003g0103 a0011c0156t0003g0104 a0071c0160t0003g0099 a0007c0035t0003g0103 a0011c0156t0003g0104 a0071c0160t0003g0099	3	302	0.0099	456	c.321 others(473): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCACCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTG TGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCAC AGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCG CTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCC TGTGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(449): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTGTATATATATGTGTGTATATATATATGTATATATATATACATATATAT GTGTATATATATACATATATATACACACATATATATACACACATATATAT ACACACATATATATACACACACACACATAATATATATGTATTATATATAT GTATATAATATATATATATATATTATCAGCAGCTGTATTGACAAGATTTT CATTACTTCCTAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTTAAAG TTTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTG TGTGTATATATATGTGTGTATATATATATGTATATATATATACATATGTA TATATATATACATATATATATACACACATATATATACACACACACACACA TAATACA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03540.hp2 HG03139.hp2 HG03540.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0017 a0003c0009t0018 a0003c0009t0017 a0003c0009t0018	a0003c0009t0017g0046 a0003c0009t0018g0045 a0003c0009t0017g0046 a0003c0009t0018g0045	2	170	0.0118	456	c.106 others(475): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTGTATATATATGTGTGTATATATATATGTATATAT ATATACATATATATGTGTATATATATACATATATATACACACATATATAT ACACACATATATATACACACATATATATACACACACACACATAATATATA TGTATTATATATATGTATATAATATATATATATATATTATCAGCAGCTGT ATTGACAAGATTTTCATTACTTCCTAAATGTCTGCACTGGCTTGCTTTAT TTTTCCTTTTAAAGTTTATATATATATATATGTATATAATATATATATGT ATTATGTGTGTGTGTGTGTATATATATGTGTGTATATATATATGTATATA TATATACATATGTATATATATATACATATATATATACACACATATATATA CACACACACACACATAATACATATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PRPF31_chr19_54110754_54136713	54133777	C C	CTCTCTCC others(449): Show CTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTTCCCTGTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCT CCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	227	0.0044	456	c.23 others(467): Show c.2345_*2346insTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCC TCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2065		chr19	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(449): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	166	0.0060	456	c.908 others(473): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPH3AL_chr17_207389_357807	315084	C C	CTGACCTG others(449): Show CTGACCTGTAGTCTCTGTACTCCACCTCCATTGACCTGTAGTCTCTGTGA CCCCACCTTGATTGACCTGTAGTCCCTGTGCCCCCACCTCCACTGACCTG TAGTCTCTGTGTCCCCACCTCTACTGACCTGTAGTCTCTGTGCTCCCACC TCCATTGACCTGTAGTCTCTGTGACCCACCTCCATTGACCTGTAGTCCCT GTGCTCCACCTCCATTGACCTGTAGTCCCTGTGCTCCACCTCCACTGACC TGTAGCCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTGCTCCACC TCCATTGACCTGTAGTCCCTGTGCTCCACCTCCACTAACCTGCAGTCCCT GTGCCCCCACCTCCATTGACCTGTAGTCTCTGTGCCCCACCTCCATTGAC CTGTAGTCCCTGTGATCCACCTCCACTCACCTGTAGTCCCTGTGCCCCCA CCTCCAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0018 a0007c0014t0018	a0007c0014t0018g0102 a0007c0014t0018g0102	1	133	0.0075	456	c.351 others(473): Show c.351+4335_351+4336insATGGAGGTGGGGGCACAGGGACTACAGG TGAGTGGAGGTGGATCACAGGGACTACAGGTCAATGGAGGTGGGGCACAG AGACTACAGGTCAATGGAGGTGGGGGCACAGGGACTGCAGGTTAGTGGAG GTGGAGCACAGGGACTACAGGTCAATGGAGGTGGAGCACAGGGACTACAG GTCAATGGAGGTGGAGCACAGAGGCTACAGGTCAGTGGAGGTGGAGCACA GGGACTACAGGTCAATGGAGGTGGAGCACAGGGACTACAGGTCAATGGAG GTGGGTCACAGAGACTACAGGTCAATGGAGGTGGGAGCACAGAGACTACA GGTCAGTAGAGGTGGGGACACAGAGACTACAGGTCAGTGGAGGTGGGGGC ACAGGGACTACAGGTCAATCAAGGTGGGGTCACAGAGACTACAGGTCAAT GGAGGTGGAGTACAGAGACTACAGGTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80700730	A A	ATGATGGT others(449): Show ATGATGGTGGTGGTGATGGTAGAGATGATGGTGATGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTAGAGATGGTGA TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTAGAGATGGTGATGGTGGTGATGATGATGGTCGTGGTGATGGTGGT GGTGATGATGGTGATGGTGATGGTAGAGATGATGGTGATGATGGAGGTGG TGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGATGGTG ACGGTGATGGTAGAGATGATAGTGATGGTGGTGGTGATGATGGTGGTGAT GGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGGTGGTGGTGG TGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATGGTGGTGGTGGTG GTGATGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01516.hp1 HG03831.hp1 others(3): Show HG00438.hp2 HG01516.hp1 HG03831.hp1 HG03834.hp2 NA19057.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0018 a0001c0028 others(3): Show a0001c0003 a0001c0018 a0001c0028 a0001c0030 a0001c0051 a0001c0052	a0001c0003t0004 a0001c0018t0016 a0001c0028t0019 others(3): Show a0001c0003t0004 a0001c0018t0016 a0001c0028t0019 a0001c0030t0003 a0001c0051t0060 a0001c0052t0003	a0001c0003t0004g0119 a0001c0018t0016g0120 a0001c0028t0019g0024 others(3): Show a0001c0003t0004g0119 a0001c0018t0016g0120 a0001c0028t0019g0024 a0001c0030t0003g0117 a0001c0051t0060g0116 a0001c0052t0003g0149	6	196	0.0306	456	c.349 others(473): Show c.349-7097_349-7096insATGGTAGAGATGATGGTGATGGTGGTGG TGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTAGAG ATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTAGAGATGGTGATGGTGGTGATGATGATGGTCGTGGTGA TGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGATGGTGATGATG GAGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGAT GATGGTGACGGTGATGGTAGAGATGATAGTGATGGTGGTGGTGATGATGG TGGTGATGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGGTG GTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATGGTGGT GGTGGTGGTGATGGTGATGGTGGTGGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80700730	A A	ATGATGGT others(449): Show ATGATGGTGGTGGTGATGGTAGAGATGATGGTGATGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTAGAGATGGTGA TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTAGAGATGGTGATGGTGGTGATGATGATGGTCGTGGTGATGGTGGT GGTGATGATGGTGATGGTGATGGTAGAGATGATGGTGATGATGGAGGTGG TGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGATGGTG ACGGTGATGGTAGAGATGATAGTGATGGTGGTGGTGATGATGGTGGTGAT GGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGGTGGTGGTGGTGG TGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATGGTGGTGGTGGTG GTGATGG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0003 a0001c0030t0003	a0001c0030t0003g0115 a0001c0030t0003g0115	1	196	0.0051	456	c.349 others(473): Show c.349-7097_349-7096insATGGTAGAGATGATGGTGATGGTGGTGG TGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTAGAG ATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTAGAGATGGTGATGGTGGTGATGATGATGGTCGTGGTGA TGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGATGGTGATGATG GAGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGAT GATGGTGACGGTGATGGTAGAGATGATAGTGATGGTGGTGGTGATGATGG TGGTGATGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGGTGGTG GTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATGGTGGT GGTGGTGGTGATGGTGATGGTGGTGGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SARDH_chr9_133658560_133743352	133668455	C C	CCCTCACC others(449): Show CCCTCACCCTCCCTCTCCCCTCACCCTCTCTCTCCCTCACCCTCCTCTCC CCTCGCCCTCCCTCTCCCCTCGCCCTCCCCTCCCCTCACCCTCACCCTCC CTCTCCCTCACCCTCACCCTCCCTGCGTCCCTCACCCTCCCTCTCCCCTC ACCCTCTCTCTCCCTCACCCTCCTCTCCCCTCGCCTCCCTCTCCCCTCGC CCTCCCTCTCCCTCACCCTCACCCTCACCTCTCCCTCACCCCTCCACCCT CCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCACACCCT CCCTCTCCCCTCGCCCTCCCCTCACCCTCACCCTCATCCTCCCTCTCCCT CACCCCCCTCTCCCCTCACCCTCCCTCCCTCACCCTCCCTCTCCCCTCAT CCTCCCTCTCCCTCACCCTCCCCTCCCCTTACCCTCCCCCTCCCTCACCC TCCCTCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0004 a0003c0017t0004	a0003c0017t0004g0004 a0003c0017t0004g0004	1	262	0.0038	456	c.249 others(475): Show c.2496-1586_2496-1585insAGAGGGAGGGTGAGGGAGGGGGAGGG TAAGGGGAGGGGAGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGT GAGGGAGGGAGGGTGAGGGGAGAGGGGGGTGAGGGAGAGGGAGGATGAGG GTGAGGGTGAGGGGAGGGCGAGGGGAGAGGGAGGGTGTGGGGAGAGGGAG GGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGGAGGGGTGAGGGA GAGGTGAGGGTGAGGGTGAGGGAGAGGGAGGGCGAGGGGAGAGGGAGGCG AGGGGAGAGGAGGGTGAGGGAGAGAGAGGGTGAGGGGAGAGGGAGGGTGA GGGACGCAGGGAGGGTGAGGGTGAGGGAGAGGGAGGGTGAGGGTGAGGGG AGGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGGAGAGGAGGGTGAGGGAG AGAGAGGGTGAGGGGAGAGGGAGGGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SATL1_chrX_85087284_85248779	85088046	G G	GTATTTAT others(449): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATGT ATAAATACGTACATATTTATACATATATGTATAAATACGTACATATTTAT ACATATATGTATAAATACATATACATATTTATACATATATGTATAAATAC ATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	232	0.0043	456	c.43 others(467): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATAAATATGTACGTATTTATACATATA TGTATAAATATGTACGTATTTATACATATATGTATAAATATGTACGTATT TATACATATATATGTATAAATATGTACGTATTTATACATATATATGTATA AATATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTATA CATATATATGTATAAATATGTACGTATTTATACATATATATGTATAAATA TGTATGTATTTATACATATATATGTATAAATATGTATGTATTTATACATA TATATGTATAAATATGTATGTATACATATATGTATAAATATGTATGTATT TATACATATATGTATTAATACGTATTTATACATATATGTATTAATACGTA TTTATACATATATGTATAAATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4237		chrX	TogoVar
SCAMP1_chr5_78355617_78485739	78430103	A A	AGTATTTG others(449): Show AGTATTTGTTTATAAATACAGTATTTGTTTATAAATACAGTATTTGTTTA TAAATACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	332	0.0030	456	c.632 others(473): Show c.632+8149_632+8150insGTTTATAAATACAGTATTTGTTTATAAA TACAGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTGT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1290018	T T	TCCCCCGT others(449): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCATTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0026 a0002c0003t0001g0026	1	290	0.0035	456	c.166 others(473): Show c.1663-250_1663-249insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCATTCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4083708	T T	TCCTCCCT others(449): Show TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCT CCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTA CTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCT CCCTTCTTTACTTCCTCCCTTCCTTCTTTACTTCTTCCCTCCCTCCTTTA CTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCT TCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTA CTTGCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00558.hp2 others(31): Show HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00735.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02738.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03471.hp2 HG03491.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG04228.hp1 NA19043.hp1 NA20300.hp1 NA20752.hp1	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0007 a0016 a0017 a0018 a0025 a0026 a0029 a0030	a0001c0002 a0001c0004 a0001c0007 others(22): Show a0001c0002 a0001c0004 a0001c0007 a0001c0014 a0001c0032 a0001c0034 a0001c0036 a0001c0038 a0001c0039 a0001c0059 a0001c0062 a0001c0064 a0003c0001 a0003c0047 a0004c0003 a0004c0076 a0004c0080 a0007c0006 a0016c0045 a0017c0035 a0018c0024 a0025c0081 a0026c0028 a0029c0084 a0030c0086	a0001c0002t0002 a0001c0002t0004 a0001c0004t0001 others(29): Show a0001c0002t0002 a0001c0002t0004 a0001c0004t0001 a0001c0004t0005 a0001c0007t0003 a0001c0014t0018 a0001c0032t0058 a0001c0034t0028 a0001c0036t0033 a0001c0038t0013 a0001c0039t0050 a0001c0059t0027 a0001c0062t0053 a0001c0064t0006 a0003c0001t0003 a0003c0001t0059 a0003c0001t0063 a0003c0001t0066 a0003c0047t0038 a0004c0003t0003 a0004c0003t0052 a0004c0076t0003 a0004c0080t0014 a0007c0006t0001 a0007c0006t0012 a0016c0045t0015 a0017c0035t0005 a0018c0024t0061 a0025c0081t0008 a0026c0028t0049 a0029c0084t0045 a0030c0086t0046	a0001c0002t0002g0095 a0001c0002t0004g0104 a0001c0004t0001g0039 others(31): Show a0001c0002t0002g0095 a0001c0002t0004g0104 a0001c0004t0001g0039 a0001c0004t0005g0102 a0001c0007t0003g0033 a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0032t0058g0043 a0001c0034t0028g0097 a0001c0036t0033g0116 a0001c0038t0013g0038 a0001c0039t0050g0022 a0001c0059t0027g0090 a0001c0062t0053g0042 a0001c0064t0006g0111 a0003c0001t0003g0037 a0003c0001t0059g0024 a0003c0001t0063g0032 a0003c0001t0066g0041 a0003c0047t0038g0082 a0004c0003t0003g0069 a0004c0003t0003g0071 a0004c0003t0052g0070 a0004c0076t0003g0072 a0004c0080t0014g0078 a0007c0006t0001g0036 a0007c0006t0012g0115 a0016c0045t0015g0046 a0017c0035t0005g0058 a0018c0024t0061g0013 a0025c0081t0008g0075 a0026c0028t0049g0035 a0029c0084t0045g0011 a0030c0086t0046g0012	34	116	0.2931	456	c.332 others(475): Show c.3324+4149_3324+4150insCTCCCTTCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTC CTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCC CTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACT TCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTTCCTTCTTTACTTCTTCCCTCCCTCCTTTACT TCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTC CTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACT TGCTCCCTCCCTCCCTTCTTTACTTCCTCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4083708	T T	TCCTCCCT others(449): Show TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCT CCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTA CTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCT CCCTTCTTTACTTCCTCCCTTCCTTCTTTACTTCTTCCCTCCCTCCTTTA CTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCT TCCTTCTTTACTTCCTCCCTCCCTGCTTTACTTCCTCCCTCCCTCCTTTA CTTGCTC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0096 a0001c0008t0004g0096	1	116	0.0086	456	c.332 others(475): Show c.3324+4149_3324+4150insCTCCCTTCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTC CTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCT CCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCC CTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACT TCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTTCCTTCTTTACTTCTTCCCTCCCTCCTTTACT TCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTC CTTCTTTACTTCCTCCCTCCCTGCTTTACTTCCTCCCTCCCTCCTTTACT TGCTCCCTCCCTCCCTTCTTTACTTCCTCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4083708	T T	TCCTCCCT others(449): Show TCCTCCCTCCCTTCTTTACTTCTTCCCTCCCTTCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCT CCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTA CTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCT CCCTTCTTTACTTCCTCCCTTCCTTCTTTACTTCTTCCCTCCCTCCTTTA CTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCT TCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTA CTTGCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0008 a0008	a0008c0078 a0008c0078	a0008c0078t0001 a0008c0078t0001	a0008c0078t0001g0074 a0008c0078t0001g0074	1	116	0.0086	456	c.332 others(475): Show c.3324+4145_3324+4146insTTCCCTCCCTTCTTTACTTCCTCCCT CCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTA CTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCT CCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTC CTCCCTTCTTTACTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTT TACTTCTTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCC CTCCCTTCTTTACTTCCTCCCTTCCTTCTTTACTTCTTCCCTCCCTCCTT TACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC CTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTT TACTTGCTCCCTCCCTCCCTTCTTTACTTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(449): Show CATATATATATATTCCCTATATATATATTCCCTATATATATATTCCATAT ATATATTCCATATATATATATTCCATATATATATATTTCATATATATATA TTCCATATATATATTCCATATATATATTCCATATATATATTCCATATATA TATTCCATATATATATTCCATATATATATTCCATATATATATTCCATATA TATATTCCATATATATATTCCATATATATATTCCATATATATATTCCATA TATATATTCCATATATATATTCCATATATATATTCCATATATATATTCCA TATATATATTCCATATATATATTCCATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATTCCATATATATATATA TATATATTCCATATATATATATATATATATATTCCATATATATATATATA TATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0215 a0007c0010t0001g0215	1	324	0.0031	456	c.115 others(473): Show c.115-2706_115-2705insATATATATATATATATATATATGGAATA TATATATATATATATATATGGAATATATATATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATGGAATATATATATGGAATATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATATATATATGGAATATATATATGGAATATATATATATGAAATATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATAGGG AATATATATATAGGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(449): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTG CCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCTCTGCCAACAGACACCGGGCTGCTTCTGCCAA CAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCTTCTGCCAACA GGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGG CACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCA CCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACC GGGCTGCCTCTGCCAACAGGCACCGGGCTGCCTCTGCCAACAGGCACCGG GCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	360	0.0028	456	c.43 others(467): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCGGTGTCTGT TGGCAGGGGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCGGTGTCTGTTG GCAGAGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGC AGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAG GGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGG GCAGCCCGGTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214505	C C	CCTGCGAA others(449): Show CCTGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCTTCTG CCAACAGGCACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAA CAGACACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCCCCTGCCAACA GGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCCCTGCCAACAGG CACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCA CCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACC GGGCTGCCCCTGCCAACAGGCACCGGGCTGCCTCTGCCAACAGGCACCGG GCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	360	0.0028	456	c.43 others(467): Show c.4305_*4306insAAGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGC CTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGTCT GTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGAAGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGTTG GCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGC AGAAGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCGGTGTCTGTTGGCAG GGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGG GCAGCCCGGTGCCTGTTCGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3638		chr2	TogoVar
SHC2_chr19_411589_466033	431815	T T	TTAGAGGA others(449): Show TTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTG AGAGTTAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGAT CGTGAGTGAGAGTTAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTG AGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCT TCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCGGGGCAGATAG ATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCGGG GCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAG GAGGCCGGGCAGATAGATGGCACTTCATCGTGAGTGAGATCGTGAGTGAG AGATAGAGGAGGCTGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAG TGAGAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03579.hp1 NA19043.hp2 HG02451.hp2 HG03579.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0024 a0001c0007 a0002c0024	a0001c0007t0006 a0002c0024t0003 a0001c0007t0006 a0002c0024t0003	a0001c0007t0006g0037 a0001c0007t0006g0055 a0002c0024t0003g0188 a0001c0007t0006g0037 a0001c0007t0006g0055 a0002c0024t0003g0188	3	212	0.0142	456	c.111 others(475): Show c.1111-1069_1111-1068insTCTCTCACTCACGATCTCACTCACGA TGAAGCGCCATCTGCCCAGCCTCCTCTATCTCTCACTCACGATCTCACTC ACGATGAAGTGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGA TCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTAACTCTC ACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTC TAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCG GCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTA TCTGCCCCGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGC GCCATCTATCTGCCCCGCCTCCTCTAACTCTCACTCACGATCTCACTCAC GATGAAGCGCCATCTGCCCGGCCTCCTCTA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432228	C C	CGGGCAGA others(449): Show CGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCGGGCAGATAGATGGCACTTCATCGTGAGTGAGATCGT GAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGA TAGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGC TTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATA GATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCGG GGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGA GGAGGCG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0113 a0001c0003t0001g0113	1	212	0.0047	456	c.111 others(475): Show c.1111-1482_1111-1481insCGCCTCCTCTATCTCTCACTCACGAT CTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTATCTCTCA CTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCT ATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGG CCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTAT CTGCCCGGCCTCCTCTATCTCTCACTCACTATCTCACTCACGATGAAGCG CCATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGA AGTGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACT CACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACG ATCTCACTCACGATGAAGCGCCATCTGCCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433153	G G	GGGCAGAT others(449): Show GGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAG AGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGACATCGTGAGTG AGAGTTAGAGGAGGCCAGGCAGATGGCGCTTCATCGTGAGTGAGATCGTG AGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTG AGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCAT CGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCAGGCAGATAGATGG CGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCGGGGCAG ATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGG CCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAG GAGGCCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0037 a0001c0007t0006g0037	1	212	0.0047	456	c.111 others(475): Show c.1110+1555_1110+1556insTGGCCTCCTCTATCTCTCACTCACGA TCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTC ACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTAAC TCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCTGGCCT CCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTG CCCGGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCA TCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATG AAGCGCCATCTGCCTGGCCTCCTCTAACTCTCACTCACGATGTCACTCAC GATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACGATC TCACTCACGATGAAGCGCCATCTATCTGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC6A3_chr5_1387794_1450440	1414422	G G	GGAGAAGG others(449): Show GGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGG GCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG CCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGG CAGGGCA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	373	0.0027	456	c.115 others(473): Show c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCCA GCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCG CCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCC CGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCA CCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC TCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTCTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(449): Show AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGG CCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCGGG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0166 a0001c0001t0006g0166	1	373	0.0027	456	c.115 others(473): Show c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC CCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCC CACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT TCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGC CCCTCCCGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(449): Show AGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGG GTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC AGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC TGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGG GAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCG CTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGG CCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCGGG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	373	0.0027	456	c.115 others(473): Show c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC TTCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCC CACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT TCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGA CCCTCCAGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414431	A A	ACTGGGTG others(449): Show ACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGC AGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAG GCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGG GGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGG GCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGA AGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTG GGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAG GGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGG GAAGGCG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0293 a0001c0002t0028g0293	1	373	0.0027	456	c.115 others(473): Show c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCAGGCC CCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCC TGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGG CCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAG TGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGC CCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCC GGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC AGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCC GCCCTGCCCCTCCCGGCCCCCCACCCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414431	A A	ACTGGGTG others(449): Show ACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGC AGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAG GCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGG GGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGG GCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGA AGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTG GGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAG GGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG GAAGGCG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	373	0.0027	456	c.115 others(473): Show c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGG CCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG TGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGC CCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCC GGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC AGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCC GCCCTGCCCCTCCCGGCCCCCCACCCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414460	G G	GGGGAAGG others(449): Show GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGG CCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGG CGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGG CAGGGAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0263 a0001c0004t0008g0263	1	373	0.0027	456	c.115 others(473): Show c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCA GTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCG CCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC CGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar

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