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
FCHO2_chr5_72951041_73095522	73037315	C C	CAAAAGTA others(296): Show CAAAAGTATATGTGTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01081.hp1 others(30): Show HG00558.hp2 HG00621.hp2 HG01081.hp1 HG01934.hp2 HG02074.hp2 HG02257.hp1 HG02280.hp1 HG02523.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp2 NA18954.hp2 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp2 NA18999.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19054.hp2 NA19060.hp1 NA19068.hp2 NA19082.hp1 NA19091.hp2 NA20752.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0001c0004 a0001c0005 others(2): Show a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0006c0007	a0001c0003t0008 a0001c0004t0003 a0001c0004t0009 others(5): Show a0001c0003t0008 a0001c0004t0003 a0001c0004t0009 a0001c0004t0014 a0001c0005t0003 a0001c0005t0017 a0001c0010t0003 a0006c0007t0003	a0001c0003t0008g0109 a0001c0004t0003g0236 a0001c0004t0003g0237 others(30): Show a0001c0003t0008g0109 a0001c0004t0003g0236 a0001c0004t0003g0237 a0001c0004t0003g0238 a0001c0004t0003g0239 a0001c0004t0003g0240 a0001c0004t0003g0241 a0001c0004t0003g0244 a0001c0004t0003g0245 a0001c0004t0003g0246 a0001c0004t0003g0249 a0001c0004t0003g0251 a0001c0004t0003g0254 a0001c0004t0003g0258 a0001c0004t0003g0259 a0001c0004t0003g0260 a0001c0004t0003g0261 a0001c0004t0003g0265 a0001c0004t0003g0266 a0001c0004t0003g0268 a0001c0004t0003g0270 a0001c0004t0003g0272 a0001c0004t0003g0274 a0001c0004t0003g0275 a0001c0004t0003g0283 a0001c0004t0009g0281 a0001c0004t0014g0235 a0001c0005t0003g0247 a0001c0005t0003g0256 a0001c0005t0003g0257 a0001c0005t0017g0252 a0001c0010t0003g0250 a0006c0007t0003g0267	33	263	0.1255	303	c.914 others(318): Show c.914+114_914+115insCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAGTATATGTGT	FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
FCHO2_chr5_72951041_73095522	73037315	C C	CAAAAGTA others(296): Show CAAAAGTATATGTGTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0243 a0001c0004t0003g0243	1	231	0.0043	303	c.914 others(318): Show c.914+114_914+115insCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAGTATATGTGT	FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
FOXP1_chr3_70949708_71588728	71435459	A A	AAGAAGGG others(296): Show AAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGAC GGAGGGAGGGTAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGG AAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAAGGAGGGACGGAGGG AGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAG GGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGG AGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG04199.hp2 NA21309.hp2 HG02723.hp1 HG04199.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0032 a0001c0001t0037 a0001c0001t0011 a0001c0001t0032 a0001c0001t0037	a0001c0001t0011g0001 a0001c0001t0032g0092 a0001c0001t0037g0010 a0001c0001t0011g0001 a0001c0001t0032g0092 a0001c0001t0037g0010	3	80	0.0375	303	c.-16 others(324): Show c.-168+57966_-168+57967insCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTT CCCTCCCTCCGTCCCTTCTACCCTCCCTCCGTCCCTTCTTCCCTCCCTCC GTCCCTTCTTCCCTCCCTCCGTCCCTTCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435459	A A	AAGAAGGG others(296): Show AAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGAC GGAGGGAGGGTAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGG AAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAAGGAGGGACGGAGGG AGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAG GGACGGAGGGAGGGAAGGAGGGATGGAGGGAGGGAGGAAGGGACGGAGGG AGGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0072 a0001c0001t0074g0072	1	78	0.0128	303	c.-16 others(324): Show c.-168+57966_-168+57967insCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCATCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTT CCCTCCCTCCGTCCCTTCTACCCTCCCTCCGTCCCTTCTTCCCTCCCTCC GTCCCTTCTTCCCTCCCTCCGTCCCTTCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435459	A A	AAGAAGGG others(296): Show AAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGAC GGAGGGAGGGTAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGG AAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAAGGAGGGACGGAGGG AGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAG GGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGG AGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0074 a0001c0001t0029g0074	1	78	0.0128	303	c.-16 others(324): Show c.-168+57966_-168+57967insCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTT CCCTCCCTCCGTCCCTTCTACCCTCCCTCCGTCCCTTCTTCCCTCCCTCC GTCCCTTCTTCCCTCCCTCCGTCCCTTCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXQ1_chr6_1307098_1319758	1318778	G G	GGGGTATG others(296): Show GGGGTATGCAGAGGCCGGGCAGCGGTGGCGCACGCCTGCTATCCAGCACT TTGGGATGCCCATAAGGCGGGTGGATCACCTGAGTTAGGAGTTTCTAAGA CTAGCCTGACCAACATGTGCCGAAACAACCCCGTCACTACTAAAAAATAC AAAATTAGTCCCGGGCGCGGTTGCGCACTCCTGTAATCCCGCACTCTTGG GAGGGCCACGGGGGTGGAATCACCTGAGTTAGGAAGTTCACGACTCCGCA CTGACCAGCATGGAGCAAAACCCCGCAAGGCCACAGCAAGAATGATGTTA GGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	404	0.0025	303	c.48 others(314): Show c.4862_*4863insGGGTATGCAGAGGCCGGGCAGCGGTGGCGCACGC CTGCTATCCAGCACTTTGGGATGCCCATAAGGCGGGTGGATCACCTGAGT TAGGAGTTTCTAAGACTAGCCTGACCAACATGTGCCGAAACAACCCCGTC ACTACTAAAAAATACAAAATTAGTCCCGGGCGCGGTTGCGCACTCCTGTA ATCCCGCACTCTTGGGAGGGCCACGGGGGTGGAATCACCTGAGTTAGGAA GTTCACGACTCCGCACTGACCAGCATGGAGCAAAACCCCGCAAGGCCACA GCAAGAATGATGTTAGGAA	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4021		chr6	TogoVar
FRMPD4_chrX_12133473_12729523	12331774	A A	AGTATATA others(296): Show AGTATATATTTATATACTATATATAAATTATATATATTTATATACTATAT ATAAATTATATAATTTATATACTATATATAAATTATATATATTTATATAC TATATATAAATTATATATATTTATATACTATATATAAATTATATAATTTA TATACTATATATAAATTATATAATTTATATACTATATATAAATTATATAT ATTTATATACTATATATAAATATATATATTTATATACTATATATAAATTA TATATATTTATATACTATATATAAATTATATAATTTATATACTATATATA AATT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0019 a0001c0006t0001g0019	1	163	0.0061	303	c.42- others(322): Show c.42-166906_42-166905insGTATATATTTATATACTATATATAAA TTATATATATTTATATACTATATATAAATTATATAATTTATATACTATAT ATAAATTATATATATTTATATACTATATATAAATTATATATATTTATATA CTATATATAAATTATATAATTTATATACTATATATAAATTATATAATTTA TATACTATATATAAATTATATATATTTATATACTATATATAAATATATAT ATTTATATACTATATATAAATTATATATATTTATATACTATATATAAATT ATATAATTTATATACTATATATAAATT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16			chrX	TogoVar
GABRA2_chr4_46238548_46395128	46377773	A A	AGTGAGGG others(296): Show AGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCTGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCAGCTAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATC CAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTTCAGCCCCCCACCCGGCCAGCCGCCCCATCAG GGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00621.hp1 others(10): Show HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG01167.hp1 HG01169.hp2 HG03654.hp1 NA18963.hp2 NA18968.hp1 NA18990.hp2 NA19002.hp1 NA19070.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0021 a0001c0001t0065	a0001c0001t0003g0094 a0001c0001t0005g0128 a0001c0001t0005g0143 others(10): Show a0001c0001t0003g0094 a0001c0001t0005g0128 a0001c0001t0005g0143 a0001c0001t0006g0127 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0146 a0001c0001t0006g0156 a0001c0001t0017g0144 a0001c0001t0017g0145 a0001c0001t0021g0083 a0001c0001t0021g0093 a0001c0001t0065g0183	13	251	0.0518	303	c.187 others(320): Show c.187+8300_187+8301insCTCCCTGATGGGGCGGCTGGCCGGGTGG GGGGCTGAACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGATGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCTGGACGGGGCGGCTAGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGATGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCAC	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46377879	A A	AGCTAGCC others(296): Show AGCTAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCATCCAGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGTTCAGCCCCCCACCCGGCCAGCCGCCCCATCAGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	237	0.0042	303	c.187 others(320): Show c.187+8194_187+8195insCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCTGATGGGGCGGCTGGCC GGGTGGGGGGCTGAACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGAGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCTGGACGGGGCGGCTAGC	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46377967	C C	CCCATCCA others(296): Show CCCATCCAGGAAGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCACCCGGCCAGCCGCCC CATCAGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCTAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0082 a0001c0001t0009g0082	1	139	0.0072	303	c.187 others(320): Show c.187+8106_187+8107insCGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGG GGCGGCTAGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCTGATGGGGCGGCTGGCCGGGTGGGGGGCT GAACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCTTCCTGGATGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46377967	C C	CCCATCCA others(296): Show CCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCACCCGGCCAGCCGCCC CATCAGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCAGCTAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG02809.hp2 others(6): Show HG02145.hp2 HG02622.hp1 HG02809.hp2 HG02896.hp1 HG02976.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0052 others(1): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0052 a0001c0001t0054	a0001c0001t0007g0150 a0001c0001t0007g0151 a0001c0001t0007g0152 others(6): Show a0001c0001t0007g0150 a0001c0001t0007g0151 a0001c0001t0007g0152 a0001c0001t0007g0153 a0001c0001t0012g0071 a0001c0001t0012g0149 a0001c0001t0012g0154 a0001c0001t0052g0064 a0001c0001t0054g0065	9	147	0.0612	303	c.187 others(320): Show c.187+8106_187+8107insCGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGG GGCGGCTAGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCTGATGGGGCGGCTGGCCGGGTGGGGGGCT GAACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCTGGATGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46377967	C C	CCCATCCA others(296): Show CCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCACCCGGCCAGCCGCCC CATCAGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCTAGCCACCCCGTCCAGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0147 a0001c0001t0017g0147	1	139	0.0072	303	c.187 others(320): Show c.187+8106_187+8107insCGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGG GGTGGCTAGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCTGATGGGGCGGCTGGCCGGGTGGGGGGCT GAACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCTGGATGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46377967	C C	CCCATCCA others(296): Show CCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCACCCGGCCAGCCGCCC CATCAGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCTAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CACG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	139	0.0072	303	c.187 others(320): Show c.187+8106_187+8107insCGTGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGG GGCGGCTAGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCTGATGGGGCGGCTGGCCGGGTGGGGGGCT GAACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCTGGATGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46377967	C C	CCCATCCA others(296): Show CCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCACCCGGCCAGCCGCCC CATCAGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCTAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00639.hp1 others(83): Show HG00280.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03831.hp1 HG03927.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18947.hp2 NA18948.hp2 NA18968.hp2 NA18971.hp1 NA18982.hp2 NA18984.hp2 NA18992.hp2 NA18999.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19064.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(31): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0037 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0057 a0001c0001t0066 a0001c0001t0070 a0001c0002t0001 a0001c0002t0004 a0001c0002t0014 a0001c0002t0020 a0001c0002t0023 a0001c0002t0027 a0001c0002t0059 a0001c0002t0063 a0001c0002t0077	a0001c0001t0003g0047 a0001c0001t0003g0068 a0001c0001t0003g0098 others(83): Show a0001c0001t0003g0047 a0001c0001t0003g0068 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0139 a0001c0001t0004g0168 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0005g0067 a0001c0001t0005g0100 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0116 a0001c0001t0005g0121 a0001c0001t0005g0125 a0001c0001t0005g0138 a0001c0001t0005g0140 a0001c0001t0006g0054 a0001c0001t0006g0086 a0001c0001t0006g0119 a0001c0001t0006g0131 a0001c0001t0006g0148 a0001c0001t0009g0072 a0001c0001t0009g0096 a0001c0001t0009g0106 a0001c0001t0009g0108 a0001c0001t0009g0112 a0001c0001t0009g0122 a0001c0001t0011g0192 a0001c0001t0013g0081 a0001c0001t0013g0087 a0001c0001t0013g0095 a0001c0001t0013g0102 a0001c0001t0013g0134 a0001c0001t0015g0171 a0001c0001t0015g0180 a0001c0001t0016g0174 a0001c0001t0016g0179 a0001c0001t0016g0226 a0001c0001t0017g0129 a0001c0001t0018g0167 a0001c0001t0018g0181 a0001c0001t0018g0182 a0001c0001t0029g0115 a0001c0001t0029g0135 a0001c0001t0030g0055 a0001c0001t0030g0057 a0001c0001t0031g0130 a0001c0001t0032g0063 a0001c0001t0036g0202 a0001c0001t0036g0204 a0001c0001t0037g0188 a0001c0001t0047g0097 a0001c0001t0048g0092 a0001c0001t0049g0105 a0001c0001t0050g0141 a0001c0001t0056g0056 a0001c0001t0057g0120 a0001c0001t0066g0227 a0001c0001t0070g0191 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0187 a0001c0002t0004g0184 a0001c0002t0014g0088 a0001c0002t0014g0099 a0001c0002t0020g0039 a0001c0002t0023g0085 a0001c0002t0023g0090 a0001c0002t0027g0029 a0001c0002t0059g0089 a0001c0002t0063g0164 a0001c0002t0077g0257	86	224	0.3839	303	c.187 others(320): Show c.187+8106_187+8107insCGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGG GGCGGCTAGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCTGATGGGGCGGCTGGCCGGGTGGGGGGCT GAACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCTGGATGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46377967	C C	CCCATCCA others(296): Show CCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCACCCGGCCAGCCGCCC CATCAGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCTAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGATTCCCTCTGCCCGGCCAGC CGCG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	139	0.0072	303	c.187 others(320): Show c.187+8106_187+8107insCGCGGCTGGCCGGGCAGAGGGAATCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGG GGCGGCTAGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCTGATGGGGCGGCTGGCCGGGTGGGGGGCT GAACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCTGGATGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46378002	G G	GCCCGGCC others(296): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCA CCCGGCCAGCCGCCCCATCAGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCTAGCCGCCCCGTCCAGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCGCCATCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	256	0.0039	303	c.187 others(320): Show c.187+8071_187+8072insTGGGGGGCTGACCCCCCCACCTCCCTCC TGGATGGCGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTAGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCTGATGGGGCGGCTGGCCGGGTGGGGGGCTGAACCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46378045	C C	CCCCCCAC others(296): Show CCCCCCACCCGGCCAGCCGCCCCATCAGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCTAGCCGCCCC GTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCGCCATCCAGGAGGGAGGTGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGT TCAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03927.hp2 HG01261.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0008 a0001c0002t0004 a0001c0002t0008	a0001c0002t0004g0237 a0001c0002t0008g0223 a0001c0002t0004g0237 a0001c0002t0008g0223	2	127	0.0157	303	c.187 others(320): Show c.187+8028_187+8029insCTGAACCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCTGGATGG CGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTAGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCT GATGGGGCGGCTGGCCGGGTGGGGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GALK1_chr17_75752894_75770192	75766919	C C	CCGCCTCC others(296): Show CCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAACTG GGATTACAGGCACCCTCCACCATGCCTGGATAATTTTTGTAAAAGCAGGG TTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTGACCTCAAGTGATTT GCCTGCCTCAGCCTCCCAAAGTGCTGGGATACAGGTGTGAGCCAATGCGG CCAGGCAATGGTTTTTTAGATATGACATCAAAAGCACAAGTGACAACAGA AAAATAAACTGTACTTCATCAAAGTGAAATATTTTTCTGCAACAAAGAAC TGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00609.hp2 others(71): Show HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG01074.hp2 HG01261.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp2 HG03579.hp1 HG03669.hp2 HG03831.hp2 HG04228.hp2 NA18612.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0007t0001g0071	74	449	0.1648	303	c.-17 others(314): Show c.-1784_-1783insAACAGTTCTTTGTTGCAGAAAAATATTTCACTTT GATGAAGTACAGTTTATTTTTCTGTTGTCACTTGTGCTTTTGATGTCATA TCTAAAAAACCATTGCCTGGCCGCATTGGCTCACACCTGTATCCCAGCAC TTTGGGAGGCTGAGGCAGGCAAATCACTTGAGGTCAGGAGTTCAAGAGCA GCCTGGCCAACATGGTGAAACCCTGCTTTTACAAAAATTATCCAGGCATG GTGGAGGGTGCCTGTAATCCCAGTTACTGGGGAGGCTGAGGCAGGAGAAT CGCTTGAACCTGGGAGGCG	GALK1	ENSG00000108479.13	transcript	ENST00000588479.6	protein_coding		1728		chr17	TogoVar
GALR1_chr18_77244848_77282900	77252872	C C	CCATCACC others(296): Show CCATCACCACCACCACCACCACCACCACCACCATCACCACCACCATCACC ACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCA CCAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0071 a0002c0003t0071	a0002c0003t0071g0223 a0002c0003t0071g0223	1	359	0.0028	303	c.666 others(320): Show c.666+1660_666+1661insTCACCACCACCACCACCACCACCACCAC CATCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCATCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(296): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGA GGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp1 HG01346.hp2 others(5): Show HG00738.hp2 HG01346.hp1 HG01346.hp2 HG01981.hp1 HG02132.hp1 NA18971.hp1 NA19004.hp1 NA19004.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0013 a0001c0001 a0014c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0014c0013t0001	a0001c0001t0001g0101 a0001c0001t0001g0150 a0001c0001t0002g0109 others(5): Show a0001c0001t0001g0101 a0001c0001t0001g0150 a0001c0001t0002g0109 a0001c0001t0003g0106 a0001c0001t0003g0125 a0001c0001t0003g0158 a0001c0001t0005g0116 a0014c0013t0001g0129	8	21	0.3810	303	c.229 others(322): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTC CCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCC CCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCC TCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCC TCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTT CCCCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GOLM1_chr9_86021146_86104558	86053579	C C	CCAAACCA others(296): Show CCAAACCACACCACACCACACCACTCCACACACTTCACACCAAACCACAC ACCCCACCACACACACTCCACACCAAACCACATCACACCACACCACTCCA CACCATACACATCACATACCACACCACACACTGCTCCACACAACACATCG CACCACTCCACACCAAACCACACACCATGCCACACCACTCCATATGACAC ACACCACGGCACACACCACATACCACACTCCACACCAAACCACACCACAC CATATACCACACCACACCACACACCACCACTTCACACCAAACACACACTA CACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	312	0.0032	303	c.310 others(318): Show c.310-989_310-988insTGTGTAGTGTGTGTTTGGTGTGAAGTGGTG GTGTGTGGTGTGGTGTGGTATATGGTGTGGTGTGGTTTGGTGTGGAGTGT GGTATGTGGTGTGTGCCGTGGTGTGTGTCATATGGAGTGGTGTGGCATGG TGTGTGGTTTGGTGTGGAGTGGTGCGATGTGTTGTGTGGAGCAGTGTGTG GTGTGGTATGTGATGTGTATGGTGTGGAGTGGTGTGGTGTGATGTGGTTT GGTGTGGAGTGTGTGTGGTGGGGTGTGTGGTTTGGTGTGAAGTGTGTGGA GTGGTGTGGTGTGGTGTGGTTTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(296): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCC CCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCTCCCCCCCCTC CTCCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCC CCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	175	0.0057	303	c.427 others(320): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCC CCTCCTCCTCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCC CCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	321631	A A	AAAAGAAA others(296): Show AAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAG CTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACG CCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAAGAAAG AAAAATTAGCCTGGTGTGGTGGTGGGTTCCTGTGGTCCCAGCTGCTCGGG ACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGG GCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAGAAAAA AATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0142 a0010c0013t0001g0142	1	145	0.0069	303	c.-28 others(314): Show c.-2845_-2844insAATTTTTTTCTTTTTTTTTTTTTTTTTGTAGATA ATGGGGTCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAG CAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGAACCCACC ACCACACCAGGCTAATTTTTCTTTCTTTTTTTTTGTAGATAATAGGGTCT TACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCC CACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCA GGCTAATTTTTCTTTCTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2836		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106709627	A A	ATTATATA others(296): Show ATTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATATTATATACACGTATAGAATATATAGTTATATACACGTATAGA ATATATAGTTATATACACGTATAGAATATATAGTTATATACACGTATAGA ATATATAGTTATATATTATATACACGTATAGAATATATAGTTATATACAC GTATAGAATATATAGTTATATACACGTATAGAATATATAGTTATATATTA TATACACGTATAGAATATATAGTTATATATTATATACACGTATAGAATAT ATAG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0214 a0001c0004t0002g0214	1	159	0.0063	303	c.183 others(320): Show c.1837-962_1837-961insCTATATATTCTATACGTGTATATAATAT ATAACTATATATTCTATACGTGTATATAATATATAACTATATATTCTATA CGTGTATATAACTATATATTCTATACGTGTATATAACTATATATTCTATA CGTGTATATAATATATAACTATATATTCTATACGTGTATATAACTATATA TTCTATACGTGTATATAACTATATATTCTATACGTGTATATAACTATATA TTCTATACGTGTATATAATATATAACTATATATTCTATACGTGTATATAA CTATATATTCTATACGTGTATATAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106709627	A A	ATTATATA others(296): Show ATTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATATTATATACACGTATAGAATATATAGTTATATACACGTATAGA ATATATAGTTATATACACGTATAGAATATATAGTTATATACACGTATAGA ATATATAGTTATATATTATATACACGTATAGAATATATAGTTATATATTA TATACACGTATAGAATATATAGTTATATACACGTATAGAATATATAGTTA TATACACGTATAGAATATATAGTTATATATTATATACACGTATAGAATAT ATAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0004 a0001c0001t0033g0004	1	159	0.0063	303	c.183 others(320): Show c.1837-962_1837-961insCTATATATTCTATACGTGTATATAATAT ATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGTAT ATAACTATATATTCTATACGTGTATATAATATATAACTATATATTCTATA CGTGTATATAATATATAACTATATATTCTATACGTGTATATAACTATATA TTCTATACGTGTATATAACTATATATTCTATACGTGTATATAACTATATA TTCTATACGTGTATATAATATATAACTATATATTCTATACGTGTATATAA CTATATATTCTATACGTGTATATAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106709759	G G	GTTATATA others(296): Show GTTATATACACGTATAGAATATATAGTTATATATTATATACACGTATAGA ATATATAGTTATATACACGTATAGAATATATAGTTATATACACGTATAGA ATATATAGTTATATATTATATACACGTATAGAATATATAGTTATATACAC GTATAGAATATATAGTTATATACACGTATAGAATATATAGTTATATATTA TATACACGTATAGAATATATAGTTATATACACGTATAGAATATATAGTTA TATACACGTATAGAATATATAGTTATATACACGTATAGAATATATAGTTA TATA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0054 a0001c0008t0054	a0001c0008t0054g0020 a0001c0008t0054g0020	1	120	0.0083	303	c.183 others(322): Show c.1837-1094_1837-1093insTATATAACTATATATTCTATACGTGT ATATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGT ATATAACTATATATTCTATACGTGTATATAATATATAACTATATATTCTA TACGTGTATATAACTATATATTCTATACGTGTATATAACTATATATTCTA TACGTGTATATAATATATAACTATATATTCTATACGTGTATATAACTATA TATTCTATACGTGTATATAACTATATATTCTATACGTGTATATAATATAT AACTATATATTCTATACGTGTATATAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GULP1_chr2_188286874_188600926	188298290	T T	TCTCACGC others(296): Show TCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	145	0.0069	303	c.-17 others(322): Show c.-172+6124_-172+6125insCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAA	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11			chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(296): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGGCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0180	1	96	0.0104	303	c.-43 others(314): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCGCTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(296): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0161 a0002c0002t0001g0161	1	96	0.0104	303	c.-43 others(314): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(296): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCA GCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	96	0.0104	303	c.-43 others(314): Show c.-4392_-4391insTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(296): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00597.hp1 others(92): Show HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01109.hp2 HG01258.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02300.hp1 HG02523.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp2 HG03239.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0005c0010t0003	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 others(76): Show a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0009g0172 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0167 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0191 a0002c0002t0002g0139 a0002c0002t0002g0178 a0002c0002t0003g0123 a0002c0002t0003g0144 a0002c0002t0010g0158 a0005c0010t0003g0138	95	190	0.5000	303	c.-43 others(314): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(296): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTTGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18952.hp1 NA18970.hp2 others(2): Show NA18951.hp1 NA18952.hp1 NA18970.hp2 NA18981.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0019 a0002c0002t0003g0121 a0002c0002t0003g0134 others(1): Show a0002c0002t0003g0019 a0002c0002t0003g0121 a0002c0002t0003g0134 a0002c0002t0003g0135	5	100	0.0500	303	c.-43 others(314): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HACD2_chr3_123486554_123590053	123490418	G G	GAAAAAGC others(296): Show GAAAAAGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00738.hp1 others(28): Show HG00140.hp1 HG00597.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01257.hp1 HG01258.hp2 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG02055.hp2 HG02273.hp1 HG02572.hp2 HG02683.hp2 HG02698.hp2 HG03017.hp1 HG03209.hp2 HG03654.hp1 HG03942.hp1 HG04199.hp2 HG06807.hp2 NA18747.hp1 NA18946.hp1 NA18969.hp1 NA18970.hp2 NA18985.hp2 NA18998.hp2 NA19068.hp2 NA19081.hp1 NA19087.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0021 a0001c0003t0024	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 others(27): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0222 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0002t0001g0011 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0031 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0003t0001g0008 a0001c0003t0001g0315 a0001c0003t0001g0317 a0001c0003t0001g0318 a0001c0003t0001g0319 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0021g0316 a0001c0003t0024g0326	31	283	0.1095	303	c.44 others(314): Show c.4469_*4470insTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC ACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTGGCTTTTT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding		1135		chr3	TogoVar
HBQ1_chr16_175459_186179	182788	G G	GTGAAACA others(296): Show GTGAAACACCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATAGTGGC GGGCGCCTGTAATCCCAGCTGTTCGGGAGGCTGAGGCAGGACAATCACTT AAACCAGGGAAGCAGAGGTTGCAGTGAGCTGAGATCGAGCCACTGCACTC CAGCCTGGGCAACAGACCGAGACTGTCTCAAAAAAAAGACCGGGCACGGT GGCTCACGCCTGTAATCCCACCACTTTGGGAGTCCCACCACTTTGGGAGG CTGAGGCGGGCTGATCACGATGTCAGGAGATCTAGACCATCCTGGCCAAC ATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	236	0.0042	303	c.16 others(314): Show c.1680_*1681insTGAAACACCGTCTCTACTAAAAATACAAAAATTA GCCAGGCATAGTGGCGGGCGCCTGTAATCCCAGCTGTTCGGGAGGCTGAG GCAGGACAATCACTTAAACCAGGGAAGCAGAGGTTGCAGTGAGCTGAGAT CGAGCCACTGCACTCCAGCCTGGGCAACAGACCGAGACTGTCTCAAAAAA AAGACCGGGCACGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGTCC CACCACTTTGGGAGGCTGAGGCGGGCTGATCACGATGTCAGGAGATCTAG ACCATCCTGGCCAACATGT	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		1610		chr16	TogoVar
HEPACAM_chr11_124914205_124941047	124940951	T T	TAAGAAAA others(296): Show TAAGAAAATAAATGTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAAACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0057 a0001c0001t0015g0057	1	416	0.0024	303	c.-49 others(314): Show c.-4946_-4945insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGACATTTATTTTCTT	HEPACAM	ENSG00000165478.8	transcript	ENST00000298251.5	protein_coding		4905		chr11	TogoVar
HIVEP3_chr1_41501365_41923922	41544730	C C	CGCTACCA others(296): Show CGCTACCATCACCACCACTACCACCACCATCACCACCACTACCACTACCT CTACCTCCACTGCTACCATCACCACCACCACTACCACCTGTACCACCACT GCTACCATCACCACCACTACCACCACCATCACCACCACTACCACTACCTC TACCTCCACTGCTACCATCACCACCACCACTACCACCACTACTACCACCA CCACCACCTCTACCACCACTGCTACCATCACCACCACCACCACTACCACC TGTACCACCACTGCTACCATCACCACCACCACCACTACCACCTGTACCAC CACT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0107 a0001c0003t0034g0107	1	59	0.0169	303	c.520 others(324): Show c.5208-19821_5208-19820insAGTGGTGGTACAGGTGGTAGTGGT GGTGGTGGTGATGGTAGCAGTGGTGGTACAGGTGGTAGTGGTGGTGGTGG TGATGGTAGCAGTGGTGGTAGAGGTGGTGGTGGTGGTAGTAGTGGTGGTA GTGGTGGTGGTGATGGTAGCAGTGGAGGTAGAGGTAGTGGTAGTGGTGGT GATGGTGGTGGTAGTGGTGGTGATGGTAGCAGTGGTGGTACAGGTGGTAG TGGTGGTGGTGATGGTAGCAGTGGAGGTAGAGGTAGTGGTAGTGGTGGTG ATGGTGGTGGTAGTGGTGGTGATGGTAGC	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544864	C C	CCACCACC others(296): Show CCACCACCACTACCACCTCTACCACCTCTACCACCACGACCACCACTACC ACCTCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCAC CATCACCACCACCACCACCATCACCACCATCATCACCACCACCACTACCA CCTCTACCACCACCATCACCACCACCACTATCACCACCTCTACCACCACC ATCACCACCACCACCACCATCACCTCTACCACCACCATCACCACCACCAC CACCATCACCACCATCACCACCACCACCACCATCACCACCTCTACCACCA CCAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp1 HG03041.hp2 HG00642.hp2 HG01358.hp1 HG03041.hp2	a0002 a0024 a0002 a0024	a0002c0002 a0024c0024 a0002c0002 a0024c0024	a0002c0002t0037 a0002c0002t0045 a0024c0024t0051 a0002c0002t0037 a0002c0002t0045 a0024c0024t0051	a0002c0002t0037g0094 a0002c0002t0045g0015 a0024c0024t0051g0062 a0002c0002t0037g0094 a0002c0002t0045g0015 a0024c0024t0051g0062	3	113	0.0265	303	c.520 others(324): Show c.5208-19955_5208-19954insATGGTGGTGGTAGAGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGA TAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATG ATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTCGTGGTGG TAGAGGTGGTAGAGGTGGTAGTGGTGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(296): Show TCTACCACCTCTACCACCACGACCACCACTACCACCTCTACCACCTCTAC CACCACCACCACCATCACCACCTCTACCACCACCATCACCACCACCACCA CCACCTCTACCACCACCATCACCACCACCACCACCACCACCTCTACCACC ACCATCACCACCACCACCACCATCACCACCTCTACCACCACCATCACCAC CACCACTATCACCACCTCTACCACCACCATCACCACCACCACCACCACCA CCTCTACCACCACCATCACCACCACCACCACCATCACCACCTCTACCACC ATCG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0006 a0001c0001t0072g0006	1	19	0.0526	303	c.520 others(324): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGATGGTG GTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTAGAGGTGGTAGAGGTGGT AGTGGTGGTCGTGGTGGTAGAGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HS3ST2_chr16_22809162_22921338	22818800	C C	CCTTCCTT others(296): Show CCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCA TTCCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCC TTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTC CCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCATTCCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCTT CCTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0123 a0001c0002t0001g0124	2	84	0.0238	303	c.485 others(320): Show c.485+3706_485+3707insTTCCTTCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCGTCCTTCCCTCCTTCCTT CCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCA TTCCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCCT CCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCCTCCTTCCTTCC TCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTT CCTTCCCTCCTTCCTTCCTTCCTTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22818800	C C	CCTTCCTT others(296): Show CCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCA TTCCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCC TTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTC CCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCC TTCCTTCCTTCATTCCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCTT CCTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0150 a0001c0001t0001g0151	2	84	0.0238	303	c.485 others(320): Show c.485+3706_485+3707insTTCCTTCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCGTCCTTCCCTCCTTCCTT CCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCA TTCCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCCT CCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTT CCTTCCCTCCTTCCTTCCTTCCTTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
ILF3_chr19_10649346_10697400	10672357	T T	TTTTTTTT others(296): Show TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA19057.hp1 HG02735.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0234 a0001c0001t0001g0194 a0001c0001t0001g0234	2	316	0.0063	303	c.411 others(318): Show c.411+839_411+840insTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCCTTTTTTTTTTTTTTTTT	ILF3	ENSG00000129351.18	transcript	ENST00000588657.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(296): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGG AAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAG GAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	154	0.0065	303	c.290 others(322): Show c.2908-3810_2908-3809insCTTCCTCCCTTTCTCCCTTCCTCCCT CCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCT TCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCC TCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCC TTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCC TCCCTCCCTTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GATGGGCA others(296): Show GATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGG CAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCA GGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03130.hp2 HG02258.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0092 a0001c0001t0001g0004 a0001c0001t0001g0092	2	14	0.1429	303	c.978 others(320): Show c.978-2483_978-2482insATGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAA CGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAG GGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAC GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAAGGAGGAGGGGCAGGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15			chr10	TogoVar
IQSEC3_chr12_61767_183455	103603	G G	GCTCAGGA others(296): Show GCTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGGGGAGGT GGGGCTCAGGAGGGGAGGCGGGGCTCAGGCAGGAGAGGTGGGACTCAGGT GGGGAGGCAGGACTCAGGAGGGAGAGGTGGAGTTCAGGAGGGGAGGCGGG GCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGA GAGGTGGAGTTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTC AGGAGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGT GGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG03516.hp1 HG01243.hp1 HG02922.hp1 HG03516.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0027 a0002c0001t0004g0028 a0002c0001t0004g0029 a0002c0001t0004g0027 a0002c0001t0004g0028 a0002c0001t0004g0029	3	267	0.0112	303	c.623 others(320): Show c.623+4412_623+4413insGGGGGGAGGCAGGGCTGGGGGGAGGTGG GGCTCAGGAGGGGAGGCGGGGCTCAGGCAGGAGAGGTGGGACTCAGGTGG GGAGGCAGGACTCAGGAGGGAGAGGTGGAGTTCAGGAGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCAG GAGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGG GACTCAGGAGGGAGAGGTGGAGTTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP1_chr4_6021199_6205549	6067579	G G	GCACTCAA others(296): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT CACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAG GTTCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCAGGT TCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCA GGTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	179	0.0056	303	c.130 others(322): Show c.1303-2572_1303-2571insAACCTGGAGCTCAGGGGGTGACCTGT GTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGAC CTGTGTGTGCGGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTG TGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGA CCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCT GTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTG ACCTGTGTGTGCAGAAGAGCTTGAGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067579	G G	GCACTCAA others(296): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT CACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAG GTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGT TCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCA GGTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	179	0.0056	303	c.130 others(322): Show c.1303-2572_1303-2571insAACCTGGAGCTCAGGGGGTGACCTGT GTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGAC CTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTG TGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGA CCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCT GTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTG ACCTGTGTGTGCAGAAGAGCTTGAGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(296): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCATCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCC ACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTC CACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACGTGTAGC TCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(52): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00733.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01255.hp1 HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02015.hp2 HG02071.hp2 HG02145.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02615.hp2 HG02698.hp2 HG03195.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03654.hp2 HG03688.hp1 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18960.hp1 NA18968.hp1 NA18978.hp2 NA18983.hp1 NA18984.hp2 NA19054.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19070.hp2 NA19088.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0014 a0002c0002 a0002c0005 a0004c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0036 a0001c0001t0041 a0001c0001t0047 a0001c0001t0062 a0001c0001t0073 a0001c0001t0094 a0001c0001t0095 a0001c0003t0001 a0001c0003t0002 a0001c0003t0046 a0001c0003t0090 a0001c0004t0035 a0001c0004t0055 a0001c0011t0014 a0001c0014t0092 a0002c0002t0009 a0002c0002t0052 a0002c0005t0004 a0004c0015t0109	a0001c0001t0001g0224 a0001c0001t0001g0237 a0001c0001t0001g0246 others(51): Show a0001c0001t0001g0224 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0002g0040 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0007g0294 a0001c0001t0007g0298 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0009g0111 a0001c0001t0009g0129 a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0134 a0001c0001t0012g0148 a0001c0001t0012g0151 a0001c0001t0012g0165 a0001c0001t0036g0113 a0001c0001t0041g0039 a0001c0001t0047g0031 a0001c0001t0062g0110 a0001c0001t0073g0167 a0001c0001t0094g0244 a0001c0001t0095g0288 a0001c0003t0001g0002 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0200 a0001c0003t0001g0203 a0001c0003t0001g0207 a0001c0003t0002g0014 a0001c0003t0002g0018 a0001c0003t0002g0020 a0001c0003t0046g0019 a0001c0003t0090g0201 a0001c0004t0035g0069 a0001c0004t0055g0094 a0001c0011t0014g0199 a0001c0014t0092g0286 a0002c0002t0009g0109 a0002c0002t0052g0062 a0002c0005t0004g0205 a0004c0015t0109g0293	55	65	0.8462	303	c.117 others(324): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGATGGTGGGGGT GGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTG CAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(296): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCC ACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTC CACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACGTGTAGC TCTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03490.hp2 NA19074.hp2 HG02572.hp2 HG03490.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0024 a0001c0001t0001 a0001c0001t0002 a0001c0006t0024	a0001c0001t0001g0240 a0001c0001t0002g0047 a0001c0006t0024g0085 a0001c0001t0001g0240 a0001c0001t0002g0047 a0001c0006t0024g0085	3	13	0.2308	303	c.117 others(324): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGT GGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTG CAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCNIP4_chr4_20723606_21953772	21532949	T T	TAAAAGCT others(296): Show TAAAAGCTAATTAATTAAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAAGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCGGAGATTGCGCCACTGCAGTCCGCAGTCCGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03540.hp2 HG02698.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0002 a0001c0002t0001g0049 a0001c0001t0003g0002 a0001c0002t0001g0049	2	69	0.0290	303	c.61+ others(322): Show c.61+415621_61+415622insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTGCTTAATTAATTAGCTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNMA1_chr10_76879882_77642808	77520178	G G	GGGGTATG others(296): Show GGGGTATGCAGTGTGAGGGTGTGCAGTGTGAGGTCTGGAGTATGCAGTGT GAGGGTGTGCATTGTGAGGTCCGGGGTATGCAGTGTGCGGGTGTGCAGTG TGAGGGTGTGCAGTGTGAGGTCTGGGGTGTGTGGTGTGAGGGTGTGCAGT GTGAGGTCTGAGGTATGCAGTGTGAGGGTGTGCAGTGTGCGGTCTGGGGT ATGTGGTGTGAGGGTATGCAGTGTGAGGTCTGGGGTGTGCAGTGTGAGGA TGTGCAGTGTGAGGTCTGGGGTATGTGGTGTGAGGGTGTGCAGTGTGAGG TCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01258.hp2 others(11): Show HG00280.hp1 HG01167.hp1 HG01258.hp2 HG01346.hp1 HG01928.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 NA18906.hp2 NA18944.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0053 a0001c0001t0002g0048 a0001c0001t0002g0069 others(11): Show a0001c0001t0001g0053 a0001c0001t0002g0048 a0001c0001t0002g0069 a0001c0001t0002g0081 a0001c0001t0006g0093 a0001c0002t0001g0055 a0001c0002t0002g0047 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0003g0067 a0001c0002t0017g0045 a0001c0003t0001g0010 a0001c0003t0001g0080 a0001c0004t0001g0036	14	15	0.9333	303	c.379 others(324): Show c.379-116156_379-116155insGGGACCTCACACTGCACACCCTCA CACCACATACCCCAGACCTCACACTGCACATCCTCACACTGCACACCCCA GACCTCACACTGCATACCCTCACACCACATACCCCAGACCGCACACTGCA CACCCTCACACTGCATACCTCAGACCTCACACTGCACACCCTCACACCAC ACACCCCAGACCTCACACTGCACACCCTCACACTGCACACCCGCACACTG CATACCCCGGACCTCACAATGCACACCCTCACACTGCATACTCCAGACCT CACACTGCACACCCTCACACTGCATACCC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar

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