Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(366): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGGAGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	370	0.0027	373	c.39 others(384): Show c.3959_*3960insTCTCCCTCTCCCTCTCGTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCC CTCCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCG TCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTC CCTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGT CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCC		FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding					3575		chr2	TogoVar
FOXP1_chr3_70949708_71588728	71435250	G G	GGAAGGAA others(366): Show GGAAGGAAGAGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGG AAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGA GGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGG AGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAG GGAGGGAGGAAGGGACGGAGGAGGGAGGAGGGACGGAGGGAGGGAGGGAG GGACGTAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGG AGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAG GGACGGAGGGAGGGAGGGAGGGAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	96	0.0104	373	c.-16 others(394): Show c.-168+58175_-168+58176insGTCCCTCCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTACGTCC CTCCCTCCCTCCCTCCGTCCCTCCTCCCTCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCC TCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTT CCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCTCTTCCTTC		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20						chr3	TogoVar
FOXQ1_chr6_1307098_1319758	1317225	C C	CCCTCCCC others(366): Show CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCC CCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCC CACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCT CCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCC GCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCC CCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCA GCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCC CCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	373	c.33 others(384): Show c.3309_*3310insCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTC CAGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCT ACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTC CCCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCC GCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCC CCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTC CTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCC CCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2468		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(366): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTC CTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCCTCCC GCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCC CCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCA GCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCC CCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0031 a0031	a0031c0042 a0031c0042	a0031c0042t0010 a0031c0042t0010	a0031c0042t0010g0000 a0031c0042t0010g0000	1	406	0.0025	373	c.33 others(384): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCG CCCACCCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCC CCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTC CTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCC CCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(366): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTC CTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCG CCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCC CCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCA GCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCC CCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 NA18975.hp1 HG02738.hp2 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0002 a0001c0001t0002 a0002c0005t0002	a0001c0001t0002g0000 a0002c0005t0002g0000 a0001c0001t0002g0000 a0002c0005t0002g0000	2	406	0.0049	373	c.33 others(384): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCG CCCACCCCCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCC CCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTC CTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCC CCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(366): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTC CTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCG CCCCCCTCCAGCCTACCCCTCCCCCCCGCCCACCCCCTCCTCCCGCCTCC CCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCA GCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCC CCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	373	c.33 others(384): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCG CCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCCGCCCACCC CCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTC CTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCC CCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(366): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTC CTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCG CCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCCTCCTCCCGCCTCC CCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCA GCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCC CCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0000 a0007c0008t0002g0000	1	406	0.0025	373	c.33 others(384): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCG CCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCC CCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTC CTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCC CCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(366): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTC CTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCG CCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCC CCCCAGCCTACCCCCTCCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCA GCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCC CCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 NA18979.hp1 HG01943.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	406	0.0049	373	c.33 others(384): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCG CCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCC CTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCCGCCCACCCACTC CTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCC CCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(366): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTC CTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCG CCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCC CCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCCTCCA GCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCC CCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	373	c.33 others(384): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCG CCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCC CTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCC TCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCC CCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(366): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTC CTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCG CCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCC CCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAG CCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCC CCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 NA18977.hp1 HG01175.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	406	0.0049	373	c.33 others(384): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCG CCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCC CTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCC TCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCC CAGCCTACCCCTCCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(366): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTC CTCCCGCCTCCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCC GCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCC CCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCA GCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCC CCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 NA18998.hp2 HG03927.hp2 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0002 a0001c0001t0002 a0002c0005t0002	a0001c0001t0002g0000 a0002c0005t0002g0000 a0001c0001t0002g0000 a0002c0005t0002g0000	2	406	0.0049	373	c.33 others(384): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCACCTCTCCTCCCGCCTCCCCCCCCCAGCCTACCCCCTCCCCC GCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCC CCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTC CTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCC CCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(366): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCC ACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCCACCCACCTCT CCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCC GCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCC CCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCA GCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCC CCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	373	c.33 others(384): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTA CCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAGCCTACCCCCTCCCCC GCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCC CCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTC CTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCC CCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(366): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCC CACCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTC TCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCC GCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCC CCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCA GCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCC CCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	1	406	0.0025	373	c.33 others(384): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCT ACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCT CCCCCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCC GCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCC CCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTC CTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCC CCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2469		chr6	TogoVar
FTCD_chr21_46131779_46160579	46145767	C C	CCGCCCTC others(366): Show CCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTT CCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCC CTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACA ACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTCC CCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCACCC TCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAA CTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCGTTCC CCCTCCCCGCCCTCCCCCCAACAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG00673.hp2 others(24): Show HG00609.hp2 HG00673.hp1 HG00673.hp2 HG02040.hp1 HG02615.hp2 HG02723.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 NA18906.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18954.hp1 NA18966.hp2 NA18970.hp1 NA18980.hp1 NA18983.hp2 NA19000.hp1 NA19005.hp2 NA19066.hp2 NA19090.hp2 NA19240.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0025	a0001c0002 a0001c0003 a0002c0011 others(2): Show a0001c0002 a0001c0003 a0002c0011 a0006c0053 a0025c0056	a0001c0002t0001 a0001c0002t0006 a0001c0003t0002 others(7): Show a0001c0002t0001 a0001c0002t0006 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0008 a0002c0011t0003 a0002c0011t0005 a0006c0053t0001 a0025c0056t0006	a0001c0002t0001g0075 a0001c0002t0001g0096 a0001c0002t0001g0109 others(24): Show a0001c0002t0001g0075 a0001c0002t0001g0096 a0001c0002t0001g0109 a0001c0002t0006g0082 a0001c0002t0006g0111 a0001c0003t0002g0011 a0001c0003t0002g0158 a0001c0003t0003g0009 a0001c0003t0003g0021 a0001c0003t0003g0023 a0001c0003t0003g0036 a0001c0003t0003g0051 a0001c0003t0003g0073 a0001c0003t0003g0095 a0001c0003t0003g0106 a0001c0003t0003g0110 a0001c0003t0003g0133 a0001c0003t0005g0213 a0001c0003t0005g0214 a0001c0003t0005g0215 a0001c0003t0005g0216 a0001c0003t0005g0218 a0001c0003t0008g0210 a0002c0011t0003g0068 a0002c0011t0005g0205 a0006c0053t0001g0142 a0025c0056t0006g0083	27	230	0.1174	373	c.109 others(388): Show c.1098+50_1098+51insCTGTTGGGGGGAGGGCGGGGAGGGGGAACG GCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCACAGTTGTTG GGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGTGC AGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGG CGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGG GGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCA GTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGG AGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13						chr21	TogoVar
GABRA3_chrX_152161234_152456315	152182722	G G	GTATAGTG others(366): Show GTATAGTGTATATATACACTATATATACACTATATATGTATAGTATATAT ACACTATGTATAGTATATATACACTATATATATAGTATATATACACTATA TATAGTGTATATATACACTATATATATAGTATATATACACTATATATATA GTATATATACACTATATATAGTGTATATACACTATATATATAGTGTATAT ATACACTGTATATGTATATATAGTGTATATATACACTATATATACACTGT ATATGTATATATAGTGTATATATACACTATATATACACTGTATATGTATA TATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATATA TACACTATACACTGTATATGTATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02630.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0150 a0001c0001t0011g0203 a0001c0001t0001g0150 a0001c0001t0011g0203	2	204	0.0098	373	c.114 others(392): Show c.1143+7007_1143+7008insTATACATATACAGTGTATAGTGTATA TATACACTATATATACATATACAGTGTATAGTGTATATATACACTATATA TACATATACAGTGTATATATAGTGTATATATACACTATATATACATATAC AGTGTATATATAGTGTATATATACACTATATATACATATACAGTGTATAT ATACACTATATATATAGTGTATATACACTATATATAGTGTATATATACTA TATATATAGTGTATATATACTATATATATAGTGTATATATACACTATATA TAGTGTATATATACTATATATATAGTGTATATATACTATACATAGTGTAT ATATACTATACATATATAGTGTATATATAGTGTATATATACACTATA		GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9						chrX	TogoVar
GLB1L3_chr11_134271379_134324564	134308475	T T	TACCACCA others(366): Show TACCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCA CCACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCACC ACCACCACCACTATCACCACCATCACCATCACCACCATCACCACCATCAC CATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAAAT ACCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCAC CACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCACCA CCACCACCACTATCACCACCATCACCATCACCACCATCACCACCATCACC ATCACCACCACCACCACCATCACC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0040 a0001c0003t0001g0040	1	422	0.0024	373	c.962 others(390): Show c.962-1138_962-1137insCCATGTCCACCACCACTACCACCACCAT CACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATCA CCTCCACCACCACCACCACTATCACCACCATCACCATCACCACCATCACC ACCATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCATC ACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATCAC CTCCACCACCACCACCACTATCACCACCATCACCATCACCACCATCACCA CCATCACCATCACCACCACCACCACCATCACCACCACCACCACCA		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(366): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCC CCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGCCCCCGCATCT TCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCCGCATCTTCTCCTCC TGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCGTGTTCCCACAGCTT CTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0069 a0001c0069	a0001c0069t0001 a0001c0069t0001	a0001c0069t0001g0079 a0001c0069t0001g0079	1	396	0.0025	373	c.239 others(382): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGCAGG AGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGA AGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCCAG	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GUCY1A2_chr11_106669019_107023476	106709951	C C	CATATAGT others(366): Show CATATAGTTATATATTATATACATGTATATAACATATAGTTATATATTAT ATACATGTATATAACATATAGTTATATATTATATACATGTATATAACATA GTTATATATTATATACATGTATATAACATATAGTTATATATTATATACAT GTATATAACATATAGTTATATATTATATACATGTATATAACATATAGTTA TATATTATATACATGTATATAACATATAGTTATATATTATATACATGTAT ATAACATATAGTTATATATTATATACATGTATATAACATATAGTTATGTA TATTATATACATGTATATAACATAGTTATATACATATAACTATATGTATA TAATATATAGTACATGTATATAAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0214 a0001c0004t0002g0214	1	256	0.0039	373	c.183 others(392): Show c.1837-1286_1837-1285insATTATATACATGTACTATATATTATA TACATATAGTTATATGTATATAACTATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATATAACTATATGTTATAT ACATGTATATAATATATAACTATATGTTATATACATGTATATAATATATA ACTATATGTTATATACATGTATATAATATATAACTATATGTTATATACAT GTATATAATATATAACTATATGTTATATACATGTATATAATATATAACTA TGTTATATACATGTATATAATATATAACTATATGTTATATACATGTATAT AATATATAACTATATGTTATATACATGTATATAATATATAACTATAT		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7						chr11	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(366): Show TGTTATGTGACATTCCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATT CCAGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGTGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCCGGCGTGCGG CCGCGTTACATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTG CGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	242	0.0041	373	c.153 others(392): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATGTAACGCGGCC GCACGCCGGCACACCGGAATGTCACATAACGTGGAATGTCATATAACGCG GCCACACGCCGGCACACCAGAATGTCATATAATGCGGCCACACGCCGGCA CACCGGAATGTCATATAACGTGGAATGTCATATAACGTAGCCACACGCCA GCACACCAGAATGTCACATAACATGGAATGTCATATAACACGGCCACACG CTGGCACACCGGAATGTCATATAACGCGGCCACACGCCGGCACACTGGAA TGTCATATAACGCGGCCACACGCCGGCACACCGGAATGTCACATAAC		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26						chr2	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(366): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGAAAAAAAAGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0018 a0001c0008t0018	a0001c0008t0018g0268 a0001c0008t0018g0268	1	270	0.0037	373	c.178 others(392): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCGTGACTTGCATTTTCTT		HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75						chr12	TogoVar
INO80_chr15_40973880_41121280	41031614	G G	GGAGGAAG others(366): Show GGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGA GGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGG AGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGG AGGAAGGGAGAAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGAAGGGAGGA AGGGAGGAAGGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGAAGGGAGGG AGGGAGGAAGGGAGGAAGGGAGGGAGGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGAAGGGA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	282	0.0036	373	c.290 others(392): Show c.2908-3879_2908-3878insTCCCTTCCTCCCTTCCTCCCTTCCTC CCTTCCTCCCTTCCTCCCTTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCCTCCCTCCCTCCCTTCCCTTCCTCCCTTC CTCCCTTCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTC		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
INPP5K_chr17_1489577_1521612	1497501	T T	TGAAAACG others(366): Show TGAAAACGTGAAGGCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0148	1	420	0.0024	373	c.963 others(388): Show c.963+434_963+435insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAACTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTAGCCTTCACGTTTTC		INPP5K	ENSG00000132376.20	transcript	ENST00000421807.7	protein_coding	8/11						chr17	TogoVar
JAG2_chr14_105135995_105173776	105162534	G G	GGCACTGC others(366): Show GGCACTGCATGGCCCAGCATACTCCAAGACCCAGGGCACCCCAGTTCCAG GGCACCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCACTGCATGGCCC AGCACACCCCAAGGTCCAGGGCACCTTAAAGCCCAGGGTACCCCAGGTCC AGGGCACCCCAAAGCCCAGAGTATCCCACAGCCCAGGGCACTGCATGGCC CAGCATACTCCAAGACCCAGGGCACCCCAGTTCCAGGGCACCCCAAAGCC CAGGGTACCCCAGAGCCCCAAAGCACTGCATGGCCCAGCACACCCCAAGG TCCAGGGCACCTTAAAGCCCAGGGCACCCCAGTTCCAGGGCACCCCAAAG CCCAGGGTACCCCAGAGCCCCAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	364	0.0028	373	c.418 others(390): Show c.418-4772_418-4771insTTTGGGGCTCTGGGGTACCCTGGGCTTT GGGGTGCCCTGGAACTGGGGTGCCCTGGGCTTTAAGGTGCCCTGGACCTT GGGGTGTGCTGGGCCATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCT TTGGGGTGCCCTGGAACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCC ATGCAGTGCCCTGGGCTGTGGGATACTCTGGGCTTTGGGGTGCCCTGGAC CTGGGGTACCCTGGGCTTTAAGGTGCCCTGGACCTTGGGGTGTGCTGGGC CATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCCTGG AACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGC		JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25						chr14	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(366): Show TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTATATATATATAATTCTATATATATATAATTCTAT ATATATATATATATCTATATATATATAATTCTATATATATATATAATTCT ATATATATATAATTATATATATATAATTCTATATATATAATATATATTAT ATATATATTCTATATATATAATATATATTATATATATAATTCTATATATA TAATATATTATATATATAATATATATTATATATATAATTCTATATATATA ATATATATTATATATATAATTCTATATATATAATATATATTATATATATA ATTCTATATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 NA20752.hp1 HG01106.hp1 HG01123.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0006 a0001c0001t0002 a0001c0001t0004 a0001c0002t0006	a0001c0001t0002g0076 a0001c0001t0004g0041 a0001c0002t0006g0050 a0001c0001t0002g0076 a0001c0001t0004g0041 a0001c0002t0006g0050	3	80	0.0375	373	c.62- others(392): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATATAATATATTATA TATATAGAATTATATATATAATATATATTATATATATAGAATATATATAT AATATATATTATATATATAGAATTATATATATATAATTATATATATATAG AATTATATATATATATAGAATTATATATATATAGATATATATATATATAT AGAATTATATATATATAGAATTATATATATATAATATATATTATATATAT AGAATTATATATATAATATATATTATATATATAGAATTATATATATA		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(366): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTAGGGGCC ACCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTG AGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGG CCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCC TGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTGGG GGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCC CCTGAGTGAGAGGGTGGGGGCCAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0203 a0001c0003t0003g0203	1	330	0.0030	373	c.430 others(388): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGCCCA GCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCCCCCACC CTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGCC CAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCCCCTA CCCTCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGG TCCTGATGGTGGCCCCCACCCTCTCACTCAGGGTTCCTGATGGTGGCCCC TACCCTCTCACTCAGGGGTCCTGATGGCGGCCCCCACCCCTCACTCAGGG GCCCAGCAGGCAGCCCCCACCCCTTTACTCAGGGGTCCTGATG		KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48						chr2	TogoVar
LAMA5_chr20_62304065_62372312	62360462	T T	TGGGTGGA others(366): Show TGGGTGGAGGGATAGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTA GAAGGATAGGTAGGTGGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGG TGGAGGAATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTG GGTGGGTGGAGGAATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATAGA TGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTG GGTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGG TGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATA GATGGGTGGGTGGATGGATAGGTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0045 a0045	a0045c0110 a0045c0110	a0045c0110t0001 a0045c0110t0001	a0045c0110t0001g0132 a0045c0110t0001g0132	1	186	0.0054	373	c.450 others(390): Show c.450+1937_450+1938insCACCTATCCATCCACCCACCCATCTATT CCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCA TCTATTCCTCCACCCACCCATCCACCTATCCATCCACCCACCCACCCACC TACCTATCCTTCTACCCACCCACCCATCTATCCCTCCACCCACCCATCTA TCCCTCCACCCACCCATCCACCCACCCATCTATTCCTCCACCCACCCACC CACCTATCCATCCACCCACCCACCCACCCACCCATCTATTCCTCCACCCA CCCATCCACCTATCCATCCACCCACCCACCCACCTACCTATCCTTCTACC CACCCACCCATCTATCCCTCCACCCACCCATCTATCCCTCCACCC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79						chr20	TogoVar
LMF1_chr16_848634_975984	858988	C C	CGTGGTGT others(366): Show CGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGT GTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTC ACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGG GATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGA TGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGATGTCACGGGATGG GTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGT GAGTGGTGTCACGGGATGGGTGTG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	294	0.0034	373	c.153 others(392): Show c.1530-4283_1530-4282insCACACCCATCCCGTGACACCACTCAC ACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCC ATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCACACCCATC CCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCC GAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGA CACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACAC CACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGACACCACT GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LRP1B_chr2_140226423_142136016	140317520	C C	CTAAATTG others(366): Show CTAAATTGAAGATGCCCTTGCAAATGTAAGTGGGAATCTCCAGCAAATAA TTGAATACAGAGATCAAACTCTCAAGAAATACGCAGAGTGGAAATATGCT TGTTTAATTTAAAATTTACCAAAGCATTTCTAACTCAGTCAACGTTATTT GTCCTAATAAAGGTTGTGGATGTGGACAGTGAAGATAAGCACTTAAGGCA TTATGATCATAGATAGGATTATTATGGGGTACTCATTTTTACCTGTCAGT TCTATGAAAACCACAAGGATTTTCAAAATCCTTACATGTTAGGGCATGCG CGTTACTATAACGTGCCTCATTAGGCACCAGAAATTTTAAAGTACAACAC TGCCTGATGAAATGGAAGTGGAGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0005 a0001c0012t0003g0005	1	28	0.0357	373	c.126 others(394): Show c.12641-2794_12641-2422dupACTCCACTTCCATTTCATCAGGCA GTGTTGTACTTTAAAATTTCTGGTGCCTAATGAGGCACGTTATAGTAACG CGCATGCCCTAACATGTAAGGATTTTGAAAATCCTTGTGGTTTTCATAGA ACTGACAGGTAAAAATGAGTACCCCATAATAATCCTATCTATGATCATAA TGCCTTAAGTGCTTATCTTCACTGTCCACATCCACAACCTTTATTAGGAC AAATAACGTTGACTGAGTTAGAAATGCTTTGGTAAATTTTAAATTAAACA AGCATATTTCCACTCTGCGTATTTCTTGAGAGTTTGATCTCTGTATTCAA TTATTTGCTGGAGATTCCCACTTACATTTGCAAGGGCATCTTCAATTTA		LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	82/90						chr2	TogoVar
LRRC74A_chr14_76821408_76875304	76867100	G G	GGTGTGTG others(366): Show GGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTG TGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGT GTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGT GTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGTGTGTGTG TGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTG TGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGGGTGTGTTGGGGGA TGGGGTGTGTGTGTGGTAGTGTGGGGGGGGTGTGTGTTTTGGGGGGGTGT GTGTGGTGGTGTGTGTGGGGGAGT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0387 a0003c0013t0001g0387	1	408	0.0025	373	c.130 others(390): Show c.1309-217_1309-216insTGGGGGGGTGTGTGTGTTGGGGGTGGGG TGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGG GTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTG TGTGTGTGTGGTAGTGTGTGTGGGTGTGTGTGTGTGTTGGGGGGTGGGGT GTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGGGGGTG GGGTGTGTGTGTGGGGGGGGTGTGTTGGGGGATGGGGTGTGTGTGTGGTA GTGTGGGGGGGGTGTGTGTTTTGGGGGGGTGTGTGTGGTGGTGTGTGTGG GGGAGTGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTG		LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
LY75_chr2_159798355_159909756	159874075	T T	TACATATA others(366): Show TACATATAAACGTATATATTTTGTAAAAATACATATAAACGTATATATTT TGTAAAAATACATATAAACGTATATATTTTGTAAAAATACATATAAACGT ATATATTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAATACAT ATAAACGTATATATTTTGTAAAAATACATATAAACGTATATATTTTGTAA AAATACATATAAACGTATATATTTTGTAAAAATACATATAAACGTATATA TTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAATACATATAAA CGTATATATTTTGTAAAAATACATATAAACGTATATATTTTGTAAAAATA TATAAACGTATATATTTTGTAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0040 a0040	a0040c0033 a0040c0033	a0040c0033t0001 a0040c0033t0001	a0040c0033t0001g0010 a0040c0033t0001g0010	1	330	0.0030	373	c.197 others(392): Show c.1974+1368_1974+1369insTTTTACAAAATATATACGTTTATATA TTTTTACAAAATATATACGTTTATATGTATTTTTACAAAATATATACGTT TATATGTATTTTTACAAAATATATACGTTTATATGTATTTTTACAAAATA TATACGTTTATATGTATTTTTACAAAATATATACGTTTATATGTATTTTT ACAAAATATATACGTTTATATGTATTTTTACAAAATATATACGTTTATAT GTATTTTTACAAAATATATACGTTTATATGTATTTTTACAAAATATATAC GTTTATATGTATTTTTACAAAATATATACGTTTATATGTATTTTTACAAA ATATATACGTTTATATGTATTTTTACAAAATATATACGTTTATATGT		LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34						chr2	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(366): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTT ATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAA TTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATA TATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAAT TTATAGAAATATAATTTATATAAATATATAACTATAATTTATATAAATAT ATAACTATAATTTATATAAATATATAACTATAATTTATATAAATATATAA CTATAATTTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0019 a0019	a0019c0009 a0019c0009	a0019c0009t0002 a0019c0009t0002	a0019c0009t0002g0091 a0019c0009t0002g0091	1	152	0.0066	373	c.342 others(392): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATA TAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAA ATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTAT AATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATATAAA TATATAACTATAATTTATATAAATATATAACTATAATTTATATAAATATA TAACTATAATTTATATAAATATATAACTATAATTTATATAAATATAT		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MIER2_chr19_300573_349796	309661	C C	CACACACA others(366): Show CACACACATGCACACAAGGCTTCAGGGAGACGAGAAGGGACACACACACA CACGCACACAGGCTTCAGGGAGACGAGAAGGGACACACACACACACAAGG CTTCAGGGAAACGAGAAGGGACACACACACACGCACACAAGGCTTCAGGG AGACGAGAAGGGACACACACACACACGCACACAAGGCTTCAGGGAGACGA GAAGGGACACACACACACACGCACACAGGCTTCAGGGAGACGAGAAGAGA CACACACACACGCACACAAGGCTTCAGGGAGACGAGAAGGGACACACACA CACGCACACAGGCTTCAGGGAGACGAGAAGAGACACACACACACGCACAC AAGGCTTCAGGGAGACGAGAAGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp2 HG02965.hp1 others(4): Show HG02258.hp1 HG02896.hp2 HG02965.hp1 HG03453.hp2 HG03516.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0024 a0001c0001 a0001c0002 a0001c0024	a0001c0001t0004 a0001c0002t0002 a0001c0024t0014 a0001c0001t0004 a0001c0002t0002 a0001c0024t0014	a0001c0001t0004g0061 a0001c0001t0004g0072 a0001c0001t0004g0235 others(4): Show a0001c0001t0004g0061 a0001c0001t0004g0072 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0002t0002g0105 a0001c0024t0014g0088	7	384	0.0182	373	c.985 others(388): Show c.985-737_985-736insCCCTTCTCGTCTCCCTGAAGCCTTGTGTGC GTGTGTGTGTGTCTCTTCTCGTCTCCCTGAAGCCTGTGTGCGTGTGTGTG TGTCCCTTCTCGTCTCCCTGAAGCCTTGTGTGCGTGTGTGTGTGTCTCTT CTCGTCTCCCTGAAGCCTGTGTGCGTGTGTGTGTGTGTCCCTTCTCGTCT CCCTGAAGCCTTGTGTGCGTGTGTGTGTGTGTCCCTTCTCGTCTCCCTGA AGCCTTGTGTGCGTGTGTGTGTGTCCCTTCTCGTTTCCCTGAAGCCTTGT GTGTGTGTGTGTCCCTTCTCGTCTCCCTGAAGCCTGTGTGCGTGTGTGTG TGTGTCCCTTCTCGTCTCCCTGAAGCCTTGTGTGCATGTGTGT		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13						chr19	TogoVar
MIER2_chr19_300573_349796	310636	A A	AACGGCCC others(366): Show AACGGCCCAGAGTCCAGAAACACAGCCCAGAGCTATAGAAACACGGCCGG GAGCTGCAGAAACACAGCCCGGAGCTGTAGAAACACGGCCCGGAGCTGTA GAAACACGGCCCGGAGCTATAGGAACATGGCCCGGAGCTATAGAAACACA GCCCAGAGTCCAGAAACACAGCCCGAAGCTCCAGAAACACAGCCCAGAGC TATAGAAACACGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACAC GGCCCGGAGCTGTAGAAACACGGCCCGGAGCTGCAGAAACACAGCCCGGA GCTGCAGAAACACGGCCCGGAGCTGTAGAAACACGGCCCGGAGCTGTAGA AACACGGCCCGGAGCTGTAGAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG03209.hp1 others(3): Show HG01891.hp1 HG02486.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0012 a0001c0005t0002g0109 a0001c0005t0002g0110 others(2): Show a0001c0005t0002g0012 a0001c0005t0002g0109 a0001c0005t0002g0110 a0001c0005t0002g0111 a0001c0005t0002g0112	6	384	0.0156	373	c.984 others(390): Show c.984+1208_984+1209insGTTTCTACAGCTCCGGGCCGTGTTTCTA CAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGTTTCTGCAGCTCCG GGCTGTGTTTCTGCAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGT TTCTGGACTCTGGGCCGTTTCTATAGCTCCGGGCCGTGTTTCTATAGCTC TGGGCTGTGTTTCTGGAGCTTCGGGCTGTGTTTCTGGACTCTGGGCTGTG TTTCTATAGCTCCGGGCCATGTTCCTATAGCTCCGGGCCGTGTTTCTACA GCTCCGGGCCGTGTTTCTACAGCTCCGGGCTGTGTTTCTGCAGCTCCCGG CCGTGTTTCTATAGCTCTGGGCTGTGTTTCTGGACTCTGGGCCGT		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13						chr19	TogoVar
MIER2_chr19_300573_349796	310636	A A	AACGGCCC others(366): Show AACGGCCCAGAGTCCAGAAACACAGCCCAGAGCTATAGAAACACGGCCGG GAGCTGCAGAAACACAGCCCGGAGCTGTAGAAACACGGCCCGGAGCTGTA GAAACACGGCCCGGAGCTATAGGAACATGGCCCGGAGCTATAGAAACACA GCCCAGAGTCCAGAAACACAGCCCGAAGCTCCAGAAACACAGCCCAGAGC TATAGAAACACGGCCCGGAGCTATAGAAACGGCCCAGAGTCCAGAAACAC GGCCCGGAGCTGTAGAAACACGGCCCGGAGCTGCAGAAACACGGCCCGGA GCTGCAGAAACACGGCCCGGAGCTGCAGAAACACGGCCCGGAGCTGTAGA AACACGGCCCGGAGCTGTAGAAAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	384	0.0026	373	c.984 others(390): Show c.984+1208_984+1209insGTTTCTACAGCTCCGGGCCGTGTTTCTA CAGCTCCGGGCCGTGTTTCTGCAGCTCCGGGCCGTGTTTCTGCAGCTCCG GGCCGTGTTTCTGCAGCTCCGGGCCGTGTTTCTACAGCTCCGGGCCGTGT TTCTGGACTCTGGGCCGTTTCTATAGCTCCGGGCCGTGTTTCTATAGCTC TGGGCTGTGTTTCTGGAGCTTCGGGCTGTGTTTCTGGACTCTGGGCTGTG TTTCTATAGCTCCGGGCCATGTTCCTATAGCTCCGGGCCGTGTTTCTACA GCTCCGGGCCGTGTTTCTACAGCTCCGGGCTGTGTTTCTGCAGCTCCCGG CCGTGTTTCTATAGCTCTGGGCTGTGTTTCTGGACTCTGGGCCGT		MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding	10/13						chr19	TogoVar
MLPH_chr2_237482251_237560322	237543786	G G	GGTACAGT others(366): Show GGTACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTG GAGGGGACAGTGGTGAGTGGGTACAGTGGTGAGTGGGGGGACAGTGGTGA GTGGAGGGGACAGTCGTGAATGGGGGGACAGTGGTGAGTGGGGGGACAGT GGTGAGTTGGGGGACAGTGGTGAGTTGGGACAGTGGTGAGTGGGGGGACA GTGGCAAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGG ACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTCGTGAAT GGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGG TGAGTTGGGACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0115 a0006c0006t0001g0115	1	286	0.0035	373	c.153 others(392): Show c.1539+1128_1539+1129insTACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGTACAGTG GTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTCGTGAATGGGGGGA CAGTGGTGAGTGGGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTTGG GACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGA GGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTG AGTGGAGGGGACAGTCGTGAATGGGGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGAGGGGACAGTGGTGAGTTGGGACAGTGGTGAGTGGAG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544613	G G	GGGGACAG others(366): Show GGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGT GGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGC AAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGG TGAGTGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGG TGAGTGGGAGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGT GGTGAGTGGAGGGGACAGTGGTGA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0250 a0002c0002t0001g0250	1	286	0.0035	373	c.153 others(392): Show c.1539+1955_1539+1956insGGACAGTGGTGAGTGGGGACAGTAAT GAGTCGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAG TGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACG GTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGCA CGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH1_chr8_144143016_144266926	144203089	G G	GGGGGGAG others(366): Show GGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGAGGGGAGCGCCCGC TCTCTGTGGAGGGGCGGGGAGGGGAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGGTCTGTGGAGGGGCGGGGAGGGGAGCGCCCGCTGTCTGTGGAGGGG CGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCC CGCTGTCTGTGGAGGGGCGGGGGGGGAAGCGCCCGCTGTCTGTGGAGCGG GGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAGCGCCCGCTGT CTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGCGGGG GGGGAAGCGCCCGCTGTCTGTGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0039 a0002c0015t0001g0039	1	140	0.0071	373	c.114 others(392): Show c.1141+2553_1141+2554insAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGAGGGGAGCGCCCGCTCTCTGTGGAGGGGCGGGGAGGGGAGCGCCCG CTGTCTGTGGAGGGGCGGGGGGGTCTGTGGAGGGGCGGGGAGGGGAGCGC CCGCTGTCTGTGGAGGGGCGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGG GCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGAAGCGC CCGCTGTCTGTGGAGCGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGG GGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCT GTCTGTGGAGGGGCGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGG		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(366): Show TATATATACAATATTATATATATTATATATAATATATATACATATTATAT ATATTATATATATATACATATATATGTATATATACATATATAATATGTAT ATATGTATATATATGTATAATATATATATTGTATATATATATTATACATA TGTATATATATATTATACATATATATGTATAATATATATAATGTATATAT ATATACATATTATATATTATATATAATATATACATATATATTATATATAA TATATACATATTATATATTATATATATAATATATATACATATTATATTAT ATATAATATATATACATATTACATATATTATATATAATATATATACATAT ATAATATATTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03139.hp2 HG01074.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0128 a0002c0003t0001g0129	2	332	0.0060	373	c.262 others(392): Show c.2620-6191_2620-6190insCAATATTATATATATTATATATAATA TATATACATATTATATATATTATATATATATACATATATATGTATATATA CATATATAATATGTATATATGTATATATATGTATAATATATATATTGTAT ATATATATTATACATATGTATATATATATTATACATATATATGTATAATA TATATAATGTATATATATATACATATTATATATTATATATAATATATACA TATATATTATATATAATATATACATATTATATATTATATATATAATATAT ATACATATTATATTATATATAATATATATACATATTACATATATTATATA TAATATATATACATATATAATATATTATATATTATATATAATATATA		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(366): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGGCGCATGG GGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGG CGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGG TCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGG GGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGGTGCGTGGA GGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGC GCGTGGGGGGGTGTGGAGGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCAC GTGGAGGGGGGCGTGTGGGGGGGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0024 a0024	a0024c0034 a0024c0034	a0024c0034t0001 a0024c0034t0001	a0024c0034t0001g0169 a0024c0034t0001g0169	1	388	0.0026	373	c.159 others(390): Show c.1596+173_1596+174insGGGGCGCGTGGGGGGGGGCGCATGGGGG GGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGC ATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGGTCG CGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGG GCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGGTGCGTGGAGGA GGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCG TGGGGGGGTGTGGAGGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTG GAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGCGTGGA others(366): Show GGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGG GGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTG GAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGC GCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGGGGTG TGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGG GGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGC GTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCC GTGTGGGGGGGCGTGGAGGGGGGC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	388	0.0026	373	c.159 others(390): Show c.1596+253_1596+254insGGCGTGTGGAGGGGGGCGCGTGGGGGGG GCGCATGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGG GGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGG AGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGC GTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCG TGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAG GAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTG GAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767907	A A	AGGGGGGC others(366): Show AGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGGAGCGTGGGGGGCG TGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGGGCGTGGAGGAGGG GCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGGCGCATGGGGGGGTG TGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGGGGAGCGTGGG GGGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCGCGTGGGGGGGGCGCATG GGGGGGCGTGGAGGCGGGGTGCGTGGAGGAGGGTGCGCGTGGAGGAGGAG GGGCGCATGGGGGGGGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0024 a0024	a0024c0034 a0024c0034	a0024c0034t0001 a0024c0034t0001	a0024c0034t0001g0169 a0024c0034t0001g0169	1	388	0.0026	373	c.159 others(390): Show c.1596+453_1596+454insAGGGGCGCGTGGAGGGGGGGAGCGTGGG GGGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGGGCGTGGAG GAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGG AGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGGCGCATGGGG GGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGGGGAGC GTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCGCGTGGGGGGGGC GCATGGGGGGGCGTGGAGGCGGGGTGCGTGGAGGAGGGTGCGCGTGGAGG AGGAGGGGCGCATGGGGGGGGGTGTGGAGGGGGGGCGCGTGGAGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MYO1C_chr17_1459186_1497686	1497501	T T	TGAAAACG others(366): Show TGAAAACGTGAAGGCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0300 a0002c0002t0002g0300	1	430	0.0023	373	c.-50 others(384): Show c.-5015_-5014insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAACTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTAGCCTTCACGTTTTC		MYO1C	ENSG00000197879.17	transcript	ENST00000648651.1	protein_coding					4816		chr17	TogoVar
NCAM2_chr21_20993409_21548329	21411135	T T	TTAGTGAA others(366): Show TTAGTGAAAAGCTCAGGTTAGATTTAACTTGTTTTGTGTAGTGTGTAGTC TCCTTGAATACTTTAATAAAATACTATAGACAGGATGGTTGAAATCACAG AAATTTGTTCTGAGTTCTGGAGGATAGAGGTTCAATATCATGGTGCCTGC CAGGTTGCTTTCTATAGAGGACTCTTCCCTGGACTTGTACTTGGCCGCCT TCTTGCTGTGTCCTCACATGCCCTTTCCTCTGTGCGCACACAGAGTTCTG GTGTCTTCCTTTTCTTGTAAGGATACCAGTCCTGTTGGATTAGGTCCCAC TCTTATTACCTCGTTTAACCTTAATTACCTTCTTAAAGATCCTATCTCCA AATTCATTCACACCGGAATTTAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03516.hp1 HG01243.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0014 a0001c0001t0010 a0001c0001t0014	a0001c0001t0010g0056 a0001c0001t0014g0033 a0001c0001t0010g0056 a0001c0001t0014g0033	2	132	0.0152	373	c.138 others(390): Show c.1383+674_1383+675insTAGTGAAAAGCTCAGGTTAGATTTAACT TGTTTTGTGTAGTGTGTAGTCTCCTTGAATACTTTAATAAAATACTATAG ACAGGATGGTTGAAATCACAGAAATTTGTTCTGAGTTCTGGAGGATAGAG GTTCAATATCATGGTGCCTGCCAGGTTGCTTTCTATAGAGGACTCTTCCC TGGACTTGTACTTGGCCGCCTTCTTGCTGTGTCCTCACATGCCCTTTCCT CTGTGCGCACACAGAGTTCTGGTGTCTTCCTTTTCTTGTAAGGATACCAG TCCTGTTGGATTAGGTCCCACTCTTATTACCTCGTTTAACCTTAATTACC TTCTTAAAGATCCTATCTCCAAATTCATTCACACCGGAATTTAGG		NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	10/17						chr21	TogoVar
NLRP8_chr19_55942832_55993629	55993533	C C	CCCTCCCC others(366): Show CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0017 a0003c0004t0017	a0003c0004t0017g0224 a0003c0004t0017g0224	1	350	0.0029	373	c.56 others(384): Show c.5620_*5621insCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4905		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993551	C C	CCCCTCCC others(366): Show CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0057 a0005c0014t0057	a0005c0014t0057g0181 a0005c0014t0057g0181	1	350	0.0029	373	c.56 others(384): Show c.5638_*5639insCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4923		chr19	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(366): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	384	0.0026	373	c.-6- others(390): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10						chr7	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(366): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCACCCTCCCCCCCTCCCCTTCCCCTTCCCCTCCCCCTTCCCCTTCCCCT CCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCC CTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTT CCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0049 a0001c0001t0096g0049	1	326	0.0031	373	c.433 others(390): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAAGGGGAAGGGGAGGGGGGGAGGGTGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(366): Show ATAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0265 a0001c0003t0002g0265	1	378	0.0027	373	c.489 others(390): Show c.489+2793_489+2794insAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(366): Show ATAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18939.hp1 HG01099.hp1 NA18939.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0246 a0001c0003t0002g0280 a0001c0003t0002g0246 a0001c0003t0002g0280	2	378	0.0053	373	c.489 others(390): Show c.489+2818_489+2819insAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808471	C C	CTATAAAA others(366): Show CTATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGTAACTAT ATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTAT ATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTAT ATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTAT ATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTAT ATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTAT ATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTAT ATAAAATATATAGTTATGTAACTA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0271 a0001c0003t0032g0271	1	378	0.0027	373	c.489 others(390): Show c.489+2866_489+2867insAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar

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