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
RFX3_chr9_3213297_3531001	3505419	A A	AAAATATA others(203): Show AAAATATAAAATAAAATACTTTATTTTATATAAATATAAAATAAAATACT TTATTTTATATAAATATAAAATAAAATACTTTATTTTATATAAATATAAA ATAAAATACTTTATTTTATATAAATATAAAATAAAATACTTTATTTTATA TAAATATAAAATAAAATACTTTATTTTATATAAATATAAAATAAAATACT TTATTTTATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	190	0.0053	210	c.-9+ others(227): Show c.-9+20327_-9+20328insATATAAAATAAAGTATTTTATTTTATAT TTATATAAAATAAAGTATTTTATTTTATATTTATATAAAATAAAGTATTT TATTTTATATTTATATAAAATAAAGTATTTTATTTTATATTTATATAAAA TAAAGTATTTTATTTTATATTTATATAAAATAAAGTATTTTATTTTATAT TTATATAAAATAAAGTATTTTATTTTATATTT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RNASE10_chr14_20500537_20518884	20505260	T T	TTCTCCCT others(203): Show TTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0036 a0001c0001t0027g0036	1	347	0.0029	210	c.-76 others(219): Show c.-765_-764insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCC		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					276		chr14	TogoVar
RNASE10_chr14_20500537_20518884	20505261	G G	GCTCCCTC others(203): Show GCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG03239.hp2 others(4): Show HG00738.hp1 HG01099.hp1 HG03239.hp2 NA18941.hp1 NA18955.hp2 NA19064.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0020 a0001c0007t0021 others(1): Show a0001c0001t0001 a0001c0001t0020 a0001c0007t0021 a0002c0002t0032	a0001c0001t0001g0002 a0001c0001t0001g0055 a0001c0001t0020g0023 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0055 a0001c0001t0020g0023 a0001c0001t0020g0171 a0001c0007t0021g0154 a0002c0002t0032g0118	7	35	0.2000	210	c.-76 others(219): Show c.-764_-763insCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCT		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding					275		chr14	TogoVar
RNF213_chr17_80255852_80403794	80315417	A A	ATGGTGGT others(203): Show ATGGTGGTCGTGGAGGTGATGGTGGTGGTGGTAATGGAGGTGATGGTGGT GGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTAGAGGTAATGGAAG TGATGGTGGAGGTACTGGAGGTGACGGTGGTGGTGGTGGAGGTGACAGTG GTGATGCTGGTGGTGGAGGTGGTGGAGGTACTGGAGGTGATGGTGGTGGT GGTGGTGGTGG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0255 a0001c0003t0001g0255	1	253	0.0040	210	c.281 others(229): Show c.2812-1765_2812-1764insTCGTGGAGGTGATGGTGGTGGTGGTA ATGGAGGTGATGGTGGTGGTACTGGAGGTGATGGTGGTGGTGAAGGTGAT GGTAGAGGTAATGGAAGTGATGGTGGAGGTACTGGAGGTGACGGTGGTGG TGGTGGAGGTGACAGTGGTGATGCTGGTGGTGGAGGTGGTGGAGGTACTG GAGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1076577	G G	GTGCCGGG others(203): Show GTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTA TGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAG GCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTA TGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	210	c.-25 others(221): Show c.-2572_-2571insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCCGCACGGA GTCCCCGTAGACTCAGCCTCCCGGCA		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2272		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076607	G G	GTGCCGGG others(203): Show GTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTA CGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAG GCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTA TGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	310	0.0032	210	c.-26 others(221): Show c.-2602_-2601insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCTCACGGAGTCCCCGTAGACTCAGCCTCCCCGCACGGA GTCCCCGTAGACTCAGCCTCCCGGCA		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2302		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076607	G G	GTGCCGGG others(203): Show GTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTA TGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAG GCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTA TGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01943.hp1 others(3): Show HG00438.hp2 HG00621.hp1 HG01943.hp1 NA18947.hp1 NA18967.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	315	0.0190	210	c.-26 others(221): Show c.-2602_-2601insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCCGCACGGA GTCCCCGTAGACTCAGCCTCCCGGCA		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2302		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076607	G G	GTGCCGGG others(203): Show GTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTA TGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAG GCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGTCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTA TGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	310	0.0032	210	c.-26 others(221): Show c.-2602_-2601insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCCGCACGGA GTCCCCGTAGACTCAGCCTCCCGGCA		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2302		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076637	G G	GTGCCGGG others(203): Show GTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTA TGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAG GCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTA TGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA19088.hp2 NA18944.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	299	0.0067	210	c.-26 others(221): Show c.-2632_-2631insTGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCCCCGCACGGA GTCCCCGTAGACTCAGCCTCCCGGCA		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2332		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076747	C C	CGGGGACT others(203): Show CGGGGACTCCGTGGGGGGAGGCTCAGGCTATGGGGACTCCGTGCCGGGAG GCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCC GTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTA TGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAG GCTGAGGCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0008 a0002c0002t0003g0008	1	193	0.0052	210	c.-27 others(221): Show c.-2742_-2741insATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAG CCTCAGCGTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGA GTCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTC CCCCAACGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAG CCTGAGCCTCCCCCCACGGAGTCCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2442		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077180	C C	CCGGGAGG others(203): Show CCGGGAGGCTGAGGCTATGGGGACTCCGTGCAGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGG GGACTCCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	147	0.0068	210	c.-31 others(221): Show c.-3175_-3174insCCACGGAGTCCCCATAGCCTCAGCCACCCCCCAC GGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGC CTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCA TAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCTGCAC GGAGTCCCCATAGCCTCAGCCTCCCG		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2875		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078175	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	232	0.0043	210	c.-41 others(221): Show c.-4170_-4169insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					3870		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078410	G G	GGGGGAGG others(203): Show GGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGG GGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGAGGCT GAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTG CCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGG GGACTCCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	284	0.0035	210	c.-44 others(221): Show c.-4405_-4404insGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAAC GGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGC CTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCA TAGCCACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCAC GGAGTCCCCATAGCCTCAGCCTCCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4105		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078505	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CTGTGCCGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	242	0.0041	210	c.-45 others(221): Show c.-4500_-4499insTCCCGGCACAGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4200		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078681	C C	CGGGAGGC others(203): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0047 a0001c0001t0018g0047	1	95	0.0105	210	c.-46 others(221): Show c.-4676_-4675insCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCA CGGAGTCCCCATAGCCTCAGCCTCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4376		chr1	TogoVar
ROBO2_chr3_77035099_77654964	77292548	C C	CCAGACAT others(203): Show CCAGACATAAAGTAGAATTGATGTTTAAATGGGTAAGCTGAGGCTAGAGC ACTAAAGACATAAAGTAAAATTGACGGGTAAACGGGTAAGCTGAGGCTAG ATCACCCCAGACACAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGC TAGATCACCCAGACATAAAGTAAAATTGATGGTTAAATGGGAAGTTGAGG CTAGAACAGTA	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19043.hp1 HG01106.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0037 a0001c0001t0011 a0001c0001t0037	a0001c0001t0011g0053 a0001c0001t0037g0011 a0001c0001t0011g0053 a0001c0001t0037g0011	2	160	0.0125	210	c.389 others(231): Show c.389-184866_389-184865insCAGACATAAAGTAGAATTGATGTT TAAATGGGTAAGCTGAGGCTAGAGCACTAAAGACATAAAGTAAAATTGAC GGGTAAACGGGTAAGCTGAGGCTAGATCACCCCAGACACAAAGTAAAATT GACGGTTAAACGGGTAAGCTGAGGCTAGATCACCCAGACATAAAGTAAAA TTGATGGTTAAATGGGAAGTTGAGGCTAGAACAGTA		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27						chr3	TogoVar
RPA3_chr7_7631518_7723607	7679372	T T	TACATGTT others(203): Show TACATGTTTATATATTTAGTTTATAGATAATATATATTTATATATTTAGT TTATAGATAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 NA18522.hp1 others(1): Show HG02572.hp1 HG02717.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0102 others(1): Show a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0012g0103	4	88	0.0455	210	c.-75 others(229): Show c.-758+6457_-758+6458insTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATAAATATATATTTATCTATAAATTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTATCTATAAACTAAATATATAAAT ATATATTATCTATAAACTAAATATATAAACATGT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPH3AL_chr17_207389_357807	288219	T T	TCTCTCCA others(203): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCAC CCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC ACTCCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCA GACCTCGCACC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	124	0.0081	210	c.352 others(227): Show c.352-6366_352-6365insGGTGCGAGGTCTGACGGTGGAGAGAGAG GGAGTGAGGTCTGACGGTGGAGAGAGAGGGAGTGAGGTCTGACGGTGGAG AGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGTGG AGAGAGGGTGCGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGT GGAGAGAGGGTGCGAGGTCTGACGGTGGAGAG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(203): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0071 a0003c0003t0071	a0003c0003t0071g0075 a0003c0003t0071g0075	1	251	0.0040	210	c.-15 others(221): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCC		RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding					1081		chr19	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(203): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19030.hp2 NA19030.hp2	a0066 a0066	a0066c0053 a0066c0053	a0066c0053t0002 a0066c0053t0002	a0066c0053t0002g0166 a0066c0053t0002g0166	1	35	0.0286	210	c.129 others(219): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(223): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RSRC1_chr3_158105089_158550730	158229108	G G	GTGTATAT others(203): Show GTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGT GTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACAC ATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAA ACACGTGTATATGTGTATATAAACACGTGTATATGTGTATATAAACACAT ACGTGTATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	177	0.0056	210	c.494 others(229): Show c.494+25875_494+25876insCACATACGTGTATATGTGTATATAAA CACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTA TATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATA TGTGTATATAAACACGTGTATATGTGTATATAAACACGTGTATATGTGTA TATAAACACATACGTGTATATATGTATATAAACA		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RTEL1_chr20_63653312_63701245	63693522	A A	ACCTCCAC others(203): Show ACCTCCACCACCTCCACCACCACCTCCACCACCTCCACCTCCACCACCAC CTCCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCACCA CCTCCACCACCTCCACCACCACCTCCACCTCCACCACCTCCACCACCACC ACCTCCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCAC CTCCACCACCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	47	0.0213	210	c.299 others(227): Show c.2992+241_2992+242insTCCACCACCTCCACCACCACCTCCACCA CCTCCACCTCCACCACCACCTCCACCACCTCCACCACCACCACCTCCACC TCCACCACCTCCACCACCACCTCCACCACCTCCACCACCACCTCCACCTC CACCACCTCCACCACCACCACCTCCACCACCACCACCACCACCTCCACCT CCACCACCTCCACCTCCACCTCCACCACCTCC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693534	A A	ACCTCTAC others(203): Show ACCTCTACCACCACCTCCACCACCACCTCCACCACCTCTACCACCACCAC CACCTCCACCACCACCTCCACCACCTCCACCTCCACCACCACCTCCACCA CCACCTCCACCACCACCTCCACCACCTCCACCTCCACCACCACCTCCACC ACCACCACCTCCACCACCTCCACCTCCACCACCACCTCCACCACCTCCAC CTCCACCACGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	48	0.0208	210	c.299 others(227): Show c.2992+253_2992+254insTCTACCACCACCTCCACCACCACCTCCA CCACCTCTACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACC TCCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCTCCAC CTCCACCACCACCTCCACCACCACCACCTCCACCACCTCCACCTCCACCA CCACCTCCACCACCTCCACCTCCACCACGTCC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693585	A A	ACCTCCAC others(203): Show ACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCAC CACCACCTCCACCACCTCCACCACCTCCACCACCACCACCACCACCACCT CCACCACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCACC TCCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCACCTC CACCTCCACCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	50	0.0200	210	c.299 others(227): Show c.2992+304_2992+305insTCCACCACCACCTCCACCACCACCACCT CCACCTCCACCACCTCCACCACCACCTCCACCACCTCCACCACCTCCACC ACCACCACCACCACCACCTCCACCACCACCACCACCACCTCCACCACCAC CTCCACCACCTCCACCACCTCCACCTCCACCTCCACCTCCACCACCTCCA CCTCCACCTCCACCACCTCCACCTCCACCTCC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTEL1_chr20_63653312_63701245	63693732	T T	TCCACCAC others(203): Show TCCACCACCACCACCTCCACCTCCACCTCCACCACCACCACCTCCACCAC CTCCACCTCCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCA CCACCTCCACCTCCACCTCCACCACCACCACCTCCACCACCACCTCCTCC ACCTCCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTC CTCCACCTCCA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	9	0.1111	210	c.299 others(227): Show c.2992+454_2992+455insACCACCACCTCCACCTCCACCTCCACCA CCACCACCTCCACCACCTCCACCTCCACCTCCACCACCACCACCTCCACC ACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCACCACCACCTC CACCACCACCTCCTCCACCTCCACCACCTCCACCACCACCTCCACCACCA CCTCCACCACCACCTCCTCCACCTCCACCACC		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTP5_chr2_241864729_241878823	241875099	G G	GGGCCCAA others(203): Show GGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGGGCC TCGGGGGCCAACTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATCCAGG TCTCAGGGGCCGAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCC AGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAA TCCAGGTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0007 a0006c0006t0007	a0006c0006t0007g0009 a0006c0006t0007g0009	1	77	0.0130	210	c.18 others(221): Show c.1825_*1826insGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAA CCCCAATCCAGGGCCTCGGGGGCCAACTGCAGGGACAGGGGTCCCAGGAG AAACCCCAATCCAGGTCTCAGGGGCCGAAATGCAGGGACGGGGGTCCCAG GAGAAACCCCAATCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCC CAGGAGAAACCCCAATCCAGGTCTCA		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					1277		chr2	TogoVar
RTP5_chr2_241864729_241878823	241875099	G G	GGGGCCAA others(203): Show GGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAATCCAGGTC TCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGGGAAACCCCAATCCAGG GCCTCGGGGGCCAACTGCAGGGACAGGGGTCCCAGGAGAAACCCCAATCC AGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAAACCCCAA TCCAGGTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0001	1	77	0.0130	210	c.18 others(221): Show c.1825_*1826insGGGCCAAAATGCAGGGACGGGGGTCCCAGGAGAA ACCCCAATCCAGGTCTCAGGGCCCAACTGCAGGGACGAGGGTCCCAGGGG AAACCCCAATCCAGGGCCTCGGGGGCCAACTGCAGGGACAGGGGTCCCAG GAGAAACCCCAATCCAGGTCTCAGGGGCCAAAATGCAGGGACGGGGGTCC CAGGAGAAACCCCAATCCAGGTCTCA		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					1277		chr2	TogoVar
RUNDC3B_chr7_87623398_87837296	87626748	A A	ATGTGTCA others(203): Show ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTG TCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	99	0.0101	210	c.-20 others(221): Show c.-2076_-2075insTGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTG TCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATG TGTCATATATATGTGTCATATATATG		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding					1649		chr7	TogoVar
RUNX1_chr21_34782801_35054302	34849432	A A	ACTATATA others(203): Show ACTATATATAATATAGTATATATACTATATATAATATATAGTATATATAA TATATTATATATAGTATATATTATATATAGTATAATATATAATATATATT ATATATAGTATATATAATATATTATATATAGTATAATATATAATATATAG TATATATATAATATATTATATATAGTATAATATATAATATATATTATATA TATAATATATT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0043 a0001c0002t0007g0043	1	168	0.0060	210	c.613 others(229): Show c.613+10041_613+10042insAATATATTATATATATAATATATATT ATATATTATACTATATATAATATATTATATATATACTATATATTATATAT TATACTATATATAATATATTATATATACTATATATAATATATATTATATA TTATACTATATATAATATATACTATATATAATATATTATATATACTATAT ATTATATATAGTATATATACTATATTATATATAG		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8						chr21	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(203): Show CACACATATATATGTGTATATATATACGTATATATACACACATATATATG TGTATATATATATACGTATATATACACACATATATATGTGTATATATATA CGTATATATACACATATATATGTGTATATATATACGTATATATACACATA TATATGTGTATATATACGTATATATATACACATATATATGTGTATATATA CGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(35): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG01346.hp1 HG01928.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02293.hp1 HG02300.hp1 HG03942.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18970.hp1 NA18977.hp1 NA18986.hp1 NA19002.hp1 NA19012.hp1 NA19060.hp1 NA19065.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019	38	58	0.6552	210	c.-32 others(221): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT ACACACATATATATGTGTATATATATATACGTATATATACACACATATAT ATGTGTATATATATACGTATATATACACATATATATGTGTATATATATAC GTATATATACACATATATATGTGTATATATACGTATATATATACACATAT ATATGTGTATATATACGTATATATAT		SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding					3050		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(203): Show CACACATATATATGTGTATATATATACGTATATATATACACATATATATG TGTATATATATATACGTATATATACACACATATATATGTGTATATATATA CGTATATATACACATATATATGTGTATATATATACGTATATATACACATA TATATGTGTATATATACGTATATATATACACATATATATGTGTATATATA CGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	21	0.0476	210	c.-32 others(221): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT ATACACATATATATGTGTATATATATATACGTATATATACACACATATAT ATGTGTATATATATACGTATATATACACATATATATGTGTATATATATAC GTATATATACACATATATATGTGTATATATACGTATATATATACACATAT ATATGTGTATATATACGTATATATAT		SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding					3050		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780146	T T	TACGTATA others(203): Show TACGTATATATACACACATATATATGTGTATATATATATACGTATATATA CACACATATATATGTGTATATATATACGTATATATACACATATATATGTG TATATATATACGTATATATACACATATATATGTGTATATATACGTATATA TATACACATATATATGTGTATATATACGTATATATATACACATATATATG TGTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA18962.hp1 others(3): Show HG01069.hp1 HG01071.hp2 NA18962.hp1 NA18998.hp1 NA19055.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0005 a0001c0001t0001g0006	6	328	0.0183	210	c.-32 others(221): Show c.-3206_-3205insACGTATATATACACACATATATATGTGTATATAT ATATACGTATATATACACACATATATATGTGTATATATATACGTATATAT ACACATATATATGTGTATATATATACGTATATATACACATATATATGTGT ATATATACGTATATATATACACATATATATGTGTATATATACGTATATAT ATACACATATATATGTGTATATATAC		SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding					3026		chrX	TogoVar
SCGB1C1_chr11_188078_199575	196540	G G	GGGGGGAC others(203): Show GGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAGC ATGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGG ACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTG AGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	271	0.0037	210	c.20 others(221): Show c.2090_*2091insGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGA CATGGTGAGGGGAGCATGGTGAGGGGACATGGGGGGGACCTTGGTGAGGA GGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGG TGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACAT		SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding					1966		chr11	TogoVar
SCHIP1_chr3_159268244_159902359	159680706	T T	TATATATA others(203): Show TATATATAATATATGTATATATAATATACATATATTATATATGTATATAT ATACATATATAATATATGTGTATATATATAATATACATATATTATATATG TATATATATACATATATAATATATGTATATTATATATATATACATATAAT ATACATATATTATATATGTATATATATACATATATAATATATGTATATTA TATATATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp1 HG02622.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0031 a0001c0002t0002g0047 a0001c0001t0001g0031 a0001c0002t0002g0047	2	17	0.1176	210	c.64- others(227): Show c.64-83715_64-83714insATATACATATATTATATATGTATATATA TACATATATAATATATGTGTATATATATAATATACATATATTATATATGT ATATATATACATATATAATATATGTATATTATATATATATACATATAATA TACATATATTATATATGTATATATATACATATATAATATATGTATATTAT ATATATATACATATATAATATATGTATATATA		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159680727	T T	TAATATAC others(203): Show TAATATACATATATTATATATGTATATATATACATATATAATATATGTAT ATATAATATACATATATAATATATGTATATATAATATACATATATAATAT ATGTATATATATATACATATATAATATATGTATATATATATAATATATAT ACATATATATTATATATATATATGTATATACATATACATATATAATAATA TACAATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01978.hp1 NA18747.hp2 HG00438.hp1 HG01978.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0064	3	100	0.0300	210	c.64- others(227): Show c.64-83715_64-83714insATATACATATATTATATATGTATATATA TACATATATAATATATGTATATATAATATACATATATAATATATGTATAT ATAATATACATATATAATATATGTATATATATATACATATATAATATATG TATATATATATAATATATATACATATATATTATATATATATATGTATATA CATATACATATATAATAATATACAATATATAA		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(203): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAA ACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01496.hp2 HG01928.hp1 others(22): Show HG00408.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp2 NA18947.hp2 NA18952.hp1 NA18978.hp2 NA18980.hp2 NA18986.hp2 NA19003.hp1 NA19004.hp2 NA19012.hp2 NA19064.hp2 NA19074.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0022 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0003g0212 a0001c0002t0002g0230 a0001c0003t0005g0301	25	40	0.6250	210	c.21+ others(225): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TACACTGCACTGTTTATACTGCACTGTTTA		SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4						chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(203): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTG CAGTGTAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAA ACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01358.hp1 HG01069.hp2 HG01071.hp2 HG01358.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0299 a0001c0003t0005g0300 a0001c0003t0005g0302 a0001c0003t0005g0299 a0001c0003t0005g0300 a0001c0003t0005g0302	3	18	0.1667	210	c.21+ others(225): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTACACTGCACTGTTTACACTGCACTGTTTACACTGCACTG TTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TACACTGCACTGTTTATACTGCACTGTTTA		SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4						chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(203): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAA ACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02300.hp2 NA18975.hp2 HG01975.hp2 HG02300.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0205 a0001c0001t0001g0001 a0001c0001t0001g0205	3	18	0.1667	210	c.21+ others(225): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTACACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TACACTGCACTGTTTATACTGCACTGTTTA		SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4						chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(203): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAA ACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	16	0.0625	210	c.21+ others(225): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTG TTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACT GCACTGTTTACACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TACACTGCACTGTTTATACTGCACTGTTTA		SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4						chr17	TogoVar
SCLY_chr2_238056001_238104413	238098619	G G	GGGAACGC others(203): Show GGGAACGCCCACATAGGACCGCCCACATGGGACCGCCCACATGGGAACGC CCACATAGGACCGCCCACATGGGACCGCCCACATGGGAACGCCCACATAG GACCGCCCACATGGGAACGCCCACATAGGACCGCCCACATGGGACCGCCC ACATGGGAACGCCCACATAGGACCGCCCACATGGGACCGCCCACATGGGA ACGCCCACATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0083 a0004c0019t0083	a0004c0019t0083g0124 a0004c0019t0083g0124	1	346	0.0029	210	c.26 others(219): Show c.267_*268insACGCCCACATAGGACCGCCCACATGGGACCGCCCAC ATGGGAACGCCCACATAGGACCGCCCACATGGGACCGCCCACATGGGAAC GCCCACATAGGACCGCCCACATGGGAACGCCCACATAGGACCGCCCACAT GGGACCGCCCACATGGGAACGCCCACATAGGACCGCCCACATGGGACCGC CCACATGGGAACGCCCACATAGGA		SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12				268	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098626	C C	CCCACATA others(203): Show CCCACATAGAACCGTCCACATAGGACCGCCCACATAGAACCGCCCACATG GGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGAACGCC CACATAGGACCGCCCACATAGGACCGCCCACATAGAACCGCCCACATGGG AACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGACCGCCCA CATAGAACCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0186 a0001c0001t0055g0187 a0001c0001t0055g0186 a0001c0001t0055g0187	2	364	0.0055	210	c.27 others(219): Show c.277_*278insAGAACCGTCCACATAGGACCGCCCACATAGAACCGC CCACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGG GAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATAGAACCGCCC ACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGA CCGCCCACATAGAACCGTCCACAT		SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12				278	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098626	C C	CCCACATA others(203): Show CCCACATAGGACCGCCCACATGGGACCGCCCACATAGGACCGCCCACATA GAACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATGGGAACGCC CACATAGGACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATAGA ACCGCCCACATGGGACCGCCCACATGGGAACGCCCACATGGGAACGCCCA CATGGGACCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02622.hp2 others(6): Show HG02055.hp2 HG02451.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02897.hp2 HG03098.hp1 HG03225.hp1 HG03516.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0009 a0003c0006t0009	a0003c0006t0009g0039 a0003c0006t0009g0287 a0003c0006t0009g0288 others(5): Show a0003c0006t0009g0039 a0003c0006t0009g0287 a0003c0006t0009g0288 a0003c0006t0009g0289 a0003c0006t0009g0290 a0003c0006t0009g0291 a0003c0006t0009g0292 a0003c0006t0009g0293	9	371	0.0243	210	c.27 others(219): Show c.277_*278insAGGACCGCCCACATGGGACCGCCCACATAGGACCGC CCACATAGAACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATGG GAACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGACCGCCC ACATAGAACCGCCCACATGGGACCGCCCACATGGGAACGCCCACATGGGA ACGCCCACATGGGACCGTCCACAT		SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12				278	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1289785	C C	CCGTGTCT others(203): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGAGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0099 a0002c0003t0002g0099	1	250	0.0040	210	c.166 others(227): Show c.1663-485_1663-484insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3E_chr7_83358238_83654139	83389951	T T	TATTACAT others(203): Show TATTACATGTATACATATATACACGTATATATTACATGTATACATATATA CACGTATATATTACATGTATACATATATACACGTATATATTACATGTATA CATATATACACGTATATATTACATGTATACATATATACACGTATATGTGT ATAGTGTATACGTATACACATATATACGCGTATATATGTGTATACGTATA CACATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0131 a0001c0003t0001g0131	1	153	0.0065	210	c.166 others(229): Show c.1667+2603_1667+2604insGTATATATGTGTATACGTATACACAT ATATACGCGTATATATGTGTATACGTATACACTATACACATATACGTGTA TATATGTATACATGTAATATATACGTGTATATATGTATACATGTAATATA TACGTGTATATATGTATACATGTAATATATACGTGTATATATGTATACAT GTAATATATACGTGTATATATGTATACATGTAAT		SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16						chr7	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATTAT others(203): Show AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATAATATTTTATTATAATATAATATTATATTTTATTATAAT ATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAA TATAATATATTATATTATAATATATTATATTTTATTATAATATAATATAT TATATTATAAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19030.hp1 HG02129.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0015 a0001c0001t0027g0011 a0001c0001t0001g0015 a0001c0001t0027g0011	2	18	0.1111	210	c.192 others(229): Show c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT ATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA TATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATATA TTATATTATAATATATTATATTTTATTATAATATAATATATTATATTATA ATATATTATATTTTATTATAATATAATATAATAT		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATTAT others(203): Show AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATTATATTTTATTATAATATAATATTATATTTTATTATAAT ATAATATTATATTATAATATAATATAATATTGTATTATATTTTATTATAA TATAATATATTATATTATAATATATTATATTTTATTATAATATAATATAT TATATTATAAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0048 a0001c0001t0014g0048	1	17	0.0588	210	c.192 others(229): Show c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT ATTATATTTTATTATAATATAATATTATATTTTATTATAATATAATATTA TATTATAATATAATATAATATTGTATTATATTTTATTATAATATAATATA TTATATTATAATATATTATATTTTATTATAATATAATATATTATATTATA ATATATTATATTTTATTATAATATAATATAATAT		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SH2D4B_chr10_80532902_80651560	80543916	T T	TTGTCTAG others(203): Show TTGTCTAGCTCAGGGATTGTAAATACACCAATCGGCACTCTGTATCTAGC TCAAGGTTTGTAAACACACCAATCAGCACCCTATGTCTAGCTCAAGGTTT GTGAATGCACCAGTCGACACTCTGTATCTAGCTACTCTGGTGGGGACTTG GAGAACCTTTGTGTCCACACTCTGTATCTAGTTAATCTGGTGGGGACATG GAGAACCTTTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0288 a0002c0002t0001g0288	1	181	0.0055	210	c.184 others(227): Show c.184+5423_184+5424insTACACCAATCGGCACTCTGTATCTAGCT CAAGGTTTGTAAACACACCAATCAGCACCCTATGTCTAGCTCAAGGTTTG TGAATGCACCAGTCGACACTCTGTATCTAGCTACTCTGGTGGGGACTTGG AGAACCTTTGTGTCCACACTCTGTATCTAGTTAATCTGGTGGGGACATGG AGAACCTTTATGTCTAGCTCAGGGATTGTAAA		SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80543916	T T	TTGTCTAG others(203): Show TTGTCTAGCTCAGGGATTGTAAATACACCAATCGGCACTCTGTATCTAGC TCAAGGTTTGTAAACACACCAATCAGCACCCTATGTCTAGCTCAAGGTTT GTGAATGCACCAGTCGACACTCTGTATCTAGCTACTCTGGTGGGGACTTG GAGAACCTTTGTGTCCACACTCTGTATCTAGTTAATCTGGTGGGGACGTG GAGAACCTTTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(136): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18963.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18977.hp1 NA18983.hp2 NA18990.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0001c0006 a0001c0010 others(22): Show a0001c0001 a0001c0006 a0001c0010 a0001c0011 a0002c0002 a0002c0007 a0002c0012 a0002c0021 a0003c0003 a0004c0004 a0004c0016 a0004c0028 a0005c0005 a0006c0008 a0007c0015 a0007c0020 a0009c0009 a0010c0017 a0012c0019 a0013c0025 a0014c0024 a0015c0022 a0016c0027 a0017c0026 a0018c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0008 a0001c0010t0001 a0001c0010t0019 a0001c0011t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0007t0001 a0002c0007t0002 a0002c0007t0010 a0002c0007t0016 a0002c0007t0020 a0002c0012t0001 a0002c0021t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0011 a0004c0004t0001 a0004c0004t0013 a0004c0016t0001 a0004c0028t0001 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0006 a0005c0005t0009 a0005c0005t0015 a0006c0008t0001 a0006c0008t0005 a0006c0008t0006 a0007c0015t0006 a0007c0015t0007 a0007c0020t0001 a0009c0009t0001 a0009c0009t0027 a0010c0017t0001 a0010c0017t0003 a0012c0019t0001 a0013c0025t0009 a0014c0024t0031 a0015c0022t0017 a0016c0027t0001 a0017c0026t0006 a0018c0029t0004	a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0132 others(135): Show a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0207 a0001c0001t0001g0290 a0001c0001t0002g0092 a0001c0001t0002g0108 a0001c0001t0002g0131 a0001c0001t0003g0080 a0001c0001t0003g0122 a0001c0001t0003g0287 a0001c0001t0004g0181 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0007g0200 a0001c0001t0007g0201 a0001c0006t0001g0052 a0001c0006t0001g0096 a0001c0006t0001g0097 a0001c0006t0001g0115 a0001c0006t0001g0129 a0001c0006t0001g0134 a0001c0006t0002g0087 a0001c0006t0002g0093 a0001c0006t0003g0128 a0001c0006t0008g0101 a0001c0010t0001g0015 a0001c0010t0001g0018 a0001c0010t0001g0024 a0001c0010t0019g0019 a0001c0011t0001g0027 a0001c0011t0001g0030 a0001c0011t0001g0031 a0001c0011t0001g0138 a0002c0002t0001g0017 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0110 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0185 a0002c0002t0001g0285 a0002c0002t0002g0054 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0003g0109 a0002c0002t0003g0318 a0002c0002t0004g0085 a0002c0002t0004g0086 a0002c0007t0001g0001 a0002c0007t0001g0009 a0002c0007t0001g0016 a0002c0007t0001g0020 a0002c0007t0002g0012 a0002c0007t0002g0013 a0002c0007t0002g0033 a0002c0007t0010g0005 a0002c0007t0016g0011 a0002c0007t0020g0034 a0002c0012t0001g0003 a0002c0012t0001g0095 a0002c0012t0001g0099 a0002c0021t0001g0003 a0003c0003t0001g0055 a0003c0003t0001g0057 a0003c0003t0001g0062 a0003c0003t0001g0064 a0003c0003t0001g0068 a0003c0003t0001g0076 a0003c0003t0001g0088 a0003c0003t0001g0091 a0003c0003t0001g0094 a0003c0003t0001g0100 a0003c0003t0001g0102 a0003c0003t0002g0058 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0098 a0003c0003t0002g0107 a0003c0003t0011g0067 a0004c0004t0001g0075 a0004c0004t0001g0126 a0004c0004t0013g0056 a0004c0016t0001g0070 a0004c0028t0001g0268 a0005c0005t0001g0053 a0005c0005t0001g0078 a0005c0005t0001g0079 a0005c0005t0001g0081 a0005c0005t0001g0082 a0005c0005t0001g0083 a0005c0005t0001g0084 a0005c0005t0001g0089 a0005c0005t0001g0090 a0005c0005t0002g0113 a0005c0005t0003g0111 a0005c0005t0003g0112 a0005c0005t0006g0204 a0005c0005t0009g0198 a0005c0005t0015g0114 a0006c0008t0001g0123 a0006c0008t0001g0186 a0006c0008t0001g0187 a0006c0008t0005g0286 a0006c0008t0005g0289 a0006c0008t0006g0199 a0007c0015t0006g0206 a0007c0015t0007g0205 a0007c0020t0001g0010 a0007c0020t0001g0026 a0009c0009t0001g0014 a0009c0009t0001g0023 a0009c0009t0001g0025 a0009c0009t0027g0022 a0010c0017t0001g0035 a0010c0017t0003g0283 a0010c0017t0003g0284 a0012c0019t0001g0281 a0013c0025t0009g0202 a0014c0024t0031g0021 a0015c0022t0017g0282 a0016c0027t0001g0182 a0017c0026t0006g0203 a0018c0029t0004g0032	139	319	0.4357	210	c.184 others(227): Show c.184+5423_184+5424insTACACCAATCGGCACTCTGTATCTAGCT CAAGGTTTGTAAACACACCAATCAGCACCCTATGTCTAGCTCAAGGTTTG TGAATGCACCAGTCGACACTCTGTATCTAGCTACTCTGGTGGGGACTTGG AGAACCTTTGTGTCCACACTCTGTATCTAGTTAATCTGGTGGGGACGTGG AGAACCTTTATGTCTAGCTCAGGGATTGTAAA		SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
SHCBP1L_chr1_182894865_182958166	182924788	G G	GAAAGAAA others(203): Show GAAAGAAAGAAAGAGAAAGAAAGAGAGAGAAAGAGAGAGAAAGGAAGGAA GGAAGGAAGGAAGGAGGGAAGAGAGGGGTGGGGGAAGGAGGGAGGAAGGG AGGGAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGGAAAGACAAAGAGAG AGAGAGAAAGAAAGGAAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAA GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0112 a0001c0003t0001g0112	1	270	0.0037	210	c.118 others(229): Show c.1182+4858_1182+4859insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCCTTCCTTCCTTCCTTTCCTTTCTTTCTCTCTCTCTCTTTGTCTTTC CCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCT TCCCCCACCCCTCTCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTTCTCT CTCTTTCTCTCTCTTTCTTTCTCTTTCTTTCTTT		SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9						chr1	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(203): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCC CTTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0200 a0001c0001t0016g0200	1	76	0.0132	210	c.691 others(229): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar

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