Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ERGIC1_chr5_172829251_172957683	172908323	A A	AGGGGAGG others(22): Show AGGGGAGGAGGTGGGGGAGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03098.hp2 NA18985.hp1 HG01978.hp1 HG03098.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0049 a0001c0001t0001g0149 a0001c0001t0033g0085 a0001c0001t0001g0049 a0001c0001t0001g0149 a0001c0001t0033g0085	3	311	0.0096	29	c.156 others(46): Show c.156-1337_156-1336insAGGTGGGGGAGGAGGGGGAGGGGGGGAG G	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERI3_chr1_44216070_44360257	44317499	G G	GACAGAAA others(22): Show GACAGAAAATAACTCCTTGACAATATTCAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG02895.hp1 others(1): Show HG01243.hp2 HG02723.hp1 HG02895.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 others(1): Show a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227	4	338	0.0118	29	c.606 others(46): Show c.606+2100_606+2128dupATGAATATTGTCAAGGAGTTATTTTCTG T	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	4/8			chr1	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTG others(22): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	132	0.0076	29	c.169 others(46): Show c.169+7179_169+7180insAAAAAAAAAAAAAAAAAAAAAACAAAAA A	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0234 a0002c0005t0001g0234	1	132	0.0076	29	c.169 others(46): Show c.169+7151_169+7179dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98075785	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0035	1	125	0.0080	29	c.58+ others(46): Show c.58+11077_58+11078insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERP44_chr9_99974185_100104000	100043291	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0086 a0001c0001t0012g0086	1	65	0.0154	29	c.286 others(46): Show c.286+9125_286+9126insCTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	4/11			chr9	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19082.hp2 HG01109.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0194 a0001c0001t0001g0151 a0001c0001t0001g0194	2	68	0.0294	29	c.58- others(44): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ESPNL_chr2_238095340_238138287	238098569	G G	GCCCACAT others(22): Show GCCCACATAGGACCGCCCACATGGGAACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0013 a0002c0004t0002g0013	1	406	0.0025	29	c.-18 others(40): Show c.-1851_-1850insCCCACATAGGACCGCCCACATGGGAACGC	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1770		chr2	TogoVar
ESRRB_chr14_76371137_76506837	76489480	C C	CACACACA others(22): Show CACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0140	1	306	0.0033	29	c.851 others(46): Show c.851-1967_851-1966insACACACACACACACACACACACACACAC A	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6			chr14	TogoVar
ESS2_chr22_19125279_19149651	19138609	G G	GGATGCTG others(22): Show GGATGCTGACGCCAGGCCCCTGCAGGGGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01169.hp1 others(1): Show HG01069.hp1 HG01071.hp1 HG01169.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	4	430	0.0093	29	c.823 others(44): Show c.823-321_823-293dupGCCCCCTGCAGGGGCCTGGCGTCAGCATC	ESS2	ENSG00000100056.12	transcript	ENST00000252137.11	protein_coding	6/9			chr22	TogoVar
ESYT2_chr7_158725997_158834509	158729508	T T	TGCTGGGG others(22): Show TGCTGGGGAGAGGGGCAAGTGAGGAGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0198 a0003c0003t0004g0198	1	368	0.0027	29	c.46 others(40): Show c.4698_*4699insGCACCTCCTCACTTGCCCCTCTCCCCAGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1488		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729512	G G	GGGGAGAG others(22): Show GGGGAGAGGGGCAAGTGAGGATGTGCTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01255.hp1 others(14): Show HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01516.hp2 HG01517.hp2 HG02300.hp1 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03491.hp2 HG04228.hp1 HG06807.hp1 NA18964.hp2 NA19064.hp1 NA19087.hp1 NA20805.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0003c0016 a0008c0015 a0003c0003 a0003c0016 a0008c0015	a0003c0003t0004 a0003c0003t0005 a0003c0003t0019 others(4): Show a0003c0003t0004 a0003c0003t0005 a0003c0003t0019 a0003c0003t0022 a0003c0003t0024 a0003c0016t0004 a0008c0015t0004	a0003c0003t0004g0181 a0003c0003t0004g0184 a0003c0003t0004g0185 others(14): Show a0003c0003t0004g0181 a0003c0003t0004g0184 a0003c0003t0004g0185 a0003c0003t0004g0186 a0003c0003t0004g0187 a0003c0003t0004g0190 a0003c0003t0004g0191 a0003c0003t0004g0192 a0003c0003t0004g0199 a0003c0003t0004g0200 a0003c0003t0005g0174 a0003c0003t0005g0213 a0003c0003t0019g0006 a0003c0003t0022g0183 a0003c0003t0024g0182 a0003c0016t0004g0298 a0008c0015t0004g0193	17	331	0.0514	29	c.46 others(40): Show c.4694_*4695insGCCAGCACATCCTCACTTGCCCCTCTCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1484		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729729	T T	TGGGGAAG others(22): Show TGGGGAAGAGGGGCAAGTGTGGATGTGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00621.hp1 others(14): Show HG00423.hp1 HG00544.hp2 HG00621.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 NA18612.hp1 NA18944.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18965.hp1 NA19004.hp1 NA19058.hp1 NA19074.hp2 NA19079.hp1 NA19087.hp2	a0002 a0002	a0002c0004 a0002c0009 a0002c0020 a0002c0004 a0002c0009 a0002c0020	a0002c0004t0003 a0002c0004t0038 a0002c0009t0003 others(1): Show a0002c0004t0003 a0002c0004t0038 a0002c0009t0003 a0002c0020t0003	a0002c0004t0003g0147 a0002c0004t0003g0149 a0002c0004t0003g0150 others(14): Show a0002c0004t0003g0147 a0002c0004t0003g0149 a0002c0004t0003g0150 a0002c0004t0003g0153 a0002c0004t0003g0154 a0002c0004t0003g0155 a0002c0004t0003g0158 a0002c0004t0003g0160 a0002c0004t0003g0164 a0002c0004t0003g0165 a0002c0004t0003g0167 a0002c0004t0003g0168 a0002c0004t0038g0159 a0002c0009t0003g0161 a0002c0009t0003g0162 a0002c0009t0003g0171 a0002c0020t0003g0151	17	352	0.0483	29	c.44 others(40): Show c.4477_*4478insCAGCACATCCACACTTGCCCCTCTTCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1267		chr7	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19011.hp1 NA18981.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0012 a0001c0001t0001g0016	2	227	0.0088	29	c.732 others(44): Show c.732+538_732+539insATATATATATATATATATATATATTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETFA_chr15_76210353_76316469	76295936	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	17	0.0588	29	c.40- others(42): Show c.40-200_40-199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	11	0.0909	29	c.-54 others(38): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(22): Show GATATATATATTTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03490.hp2 NA18997.hp2 others(2): Show HG01192.hp2 HG03490.hp2 NA18997.hp2 NA19010.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0263 a0002c0002t0002g0265 a0002c0002t0002g0266 others(2): Show a0002c0002t0002g0263 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0272	5	254	0.0197	29	c.701 others(44): Show c.701+321_701+322insATATATATATATATATAAAATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(22): Show GATATATATTTTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp2 HG02965.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0002 a0002c0002t0001 a0002c0004t0002	a0002c0002t0001g0297 a0002c0004t0002g0262 a0002c0002t0001g0297 a0002c0004t0002g0262	2	251	0.0080	29	c.701 others(44): Show c.701+321_701+322insATATATATATATATATATAAAATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108753807	A A	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	374	0.0027	29	c.502 others(44): Show c.502-797_502-796insCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	5/12			chr4	TogoVar
ETS1_chr11_128453765_128592558	128548112	G G	GAAGAAAG others(22): Show GAAGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	61	0.0164	29	c.214 others(46): Show c.214+8178_214+8179insTCCTTTCCTTTCCTTTCCTTTCCTTTCT T	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETV1_chr7_13886229_13994666	13896725	A A	AAGAAAGG others(22): Show AAGAAAGGAGAGAGAAAGAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01081.hp1 others(27): Show HG00099.hp2 HG00323.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02165.hp2 HG02622.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG03130.hp1 HG03831.hp1 HG04228.hp2 NA18948.hp2 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18973.hp1 NA18995.hp2 NA19002.hp1 NA19011.hp2 NA19070.hp1 NA19072.hp1 NA19081.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0035 a0001c0001t0038 a0001c0001t0053 a0001c0004t0001 a0001c0005t0010 a0002c0002t0001 a0002c0002t0016 a0002c0002t0052	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0014 others(27): Show a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0034 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0064 a0001c0001t0002g0105 a0001c0001t0012g0108 a0001c0001t0012g0115 a0001c0001t0012g0283 a0001c0001t0014g0110 a0001c0001t0015g0134 a0001c0001t0016g0165 a0001c0001t0016g0191 a0001c0001t0035g0124 a0001c0001t0038g0304 a0001c0001t0053g0224 a0001c0004t0001g0153 a0001c0005t0010g0113 a0002c0002t0001g0149 a0002c0002t0001g0157 a0002c0002t0001g0192 a0002c0002t0001g0214 a0002c0002t0001g0258 a0002c0002t0001g0271 a0002c0002t0001g0275 a0002c0002t0016g0273 a0002c0002t0052g0256	30	298	0.1007	29	c.121 others(46): Show c.1213-639_1213-638insCTTTTTCTTTTTCTTTCTCTCTCCTTTC T	ETV1	ENSG00000006468.15	transcript	ENST00000430479.6	protein_coding	13/13			chr7	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp1 NA18952.hp1 others(1): Show HG00621.hp1 HG00639.hp1 NA18952.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	4	7	0.5714	29	c.-32 others(40): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2836		chr19	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02738.hp1 HG01256.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0009 a0001c0001t0002 a0001c0002t0009	a0001c0001t0002g0344 a0001c0002t0009g0293 a0001c0001t0002g0344 a0001c0002t0009g0293	2	288	0.0069	29	c.-19 others(48): Show c.-192+5343_-192+5344insGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1C_chr21_32407706_32520387	32512987	G G	GTATAATA others(22): Show GTATAATACTTACAATAATATAGTAAGTAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02258.hp1 HG02818.hp1 HG00741.hp2 HG02258.hp1 HG02818.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0143 a0003c0012t0001g0144 a0003c0012t0001g0236 a0003c0012t0001g0143 a0003c0012t0001g0144 a0003c0012t0001g0236	3	344	0.0087	29	c.950 others(46): Show c.950-1805_950-1777dupGTAAGTATTATAATACTTACAATAATAT A	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32513014	T T	TATTATAA others(22): Show TATTATAATACTTACAATAATATAATAAGC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0071 a0001c0006t0001g0071	1	344	0.0029	29	c.950 others(46): Show c.950-1776_950-1748dupATAAGCATTATAATACTTACAATAATAT A	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVX2_chr2_176072472_176088962	176084733	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0012 a0001c0002t0006g0012	1	208	0.0048	29	c.-95 others(38): Show c.-958_-957insCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		772		chr2	TogoVar
EXD3_chr9_137301896_137428162	137329429	G G	GGGGTCAC others(22): Show GGGGTCACACGGGACTACACGGGACTACAC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	79	0.0127	29	c.199 others(48): Show c.1999-5287_1999-5286insGTGTAGTCCCGTGTAGTCCCGTGTGA CCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329464	A A	ACTACACG others(22): Show ACTACACGGGGTCACACGGGACTACACGGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0014 a0005c0009t0001g0014	1	40	0.0250	29	c.199 others(48): Show c.1999-5322_1999-5321insCCCGTGTAGTCCCGTGTGACCCCGTG TAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137355450	T T	TGGAGGAA others(22): Show TGGAGGAAGGAGGAAGGAGGAAGGAGAAAG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0030 a0030	a0030c0026 a0030c0026	a0030c0026t0001 a0030c0026t0001	a0030c0026t0001g0033 a0030c0026t0001g0033	1	66	0.0152	29	c.758 others(44): Show c.758-678_758-677insCTTTCTCCTTCCTCCTTCCTCCTTCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137387159	C C	CCTACTCC others(22): Show CCTACTCCTTGTCTGCCTCCCTCAGCGCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0066 a0006c0005t0001g0066	1	80	0.0125	29	c.56- others(44): Show c.56-3783_56-3782insAGGCGCTGAGGGAGGCAGACAAGGAGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	2/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137394358	C C	CCCCGGCC others(22): Show CCCCGGCCTCCCAGCCTCCGCTTCCCTAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00741.hp1 others(10): Show HG00099.hp2 HG00280.hp2 HG00741.hp1 HG01069.hp2 HG01884.hp1 HG02280.hp1 HG02615.hp1 HG02683.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 NA19066.hp1	a0002 a0003 a0005 others(6): Show a0002 a0003 a0005 a0008 a0010 a0015 a0022 a0026 a0027	a0002c0002 a0003c0003 a0005c0009 others(6): Show a0002c0002 a0003c0003 a0005c0009 a0008c0008 a0010c0006 a0015c0022 a0022c0030 a0026c0035 a0027c0017	a0002c0002t0001 a0003c0003t0001 a0005c0009t0001 others(6): Show a0002c0002t0001 a0003c0003t0001 a0005c0009t0001 a0008c0008t0001 a0010c0006t0001 a0015c0022t0001 a0022c0030t0001 a0026c0035t0001 a0027c0017t0001	a0002c0002t0001g0036 a0003c0003t0001g0025 a0003c0003t0001g0037 others(10): Show a0002c0002t0001g0036 a0003c0003t0001g0025 a0003c0003t0001g0037 a0003c0003t0001g0041 a0003c0003t0001g0068 a0005c0009t0001g0065 a0008c0008t0001g0012 a0008c0008t0001g0013 a0010c0006t0001g0008 a0015c0022t0001g0038 a0022c0030t0001g0015 a0026c0035t0001g0040 a0027c0017t0001g0007	13	58	0.2241	29	c.55+ others(42): Show c.55+944_55+945insCTTAGGGAAGCGGAGGCTGGGAGGCCGGG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	2/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137394387	C C	CCCCGGCC others(22): Show CCCCGGCCTCCCAGCCTCCGCTTCCCTAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0022 a0016c0019t0001g0022	1	52	0.0192	29	c.55+ others(42): Show c.55+915_55+916insCTTAGGGAAGCGGAGGCTGGGAGGCCGGG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	2/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137408546	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0030 a0030	a0030c0026 a0030c0026	a0030c0026t0001 a0030c0026t0001	a0030c0026t0001g0033 a0030c0026t0001g0033	1	28	0.0357	29	c.-47 others(48): Show c.-47-13143_-47-13142insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501418	T T	TTATATAT others(22): Show TTATATATATCTATATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	240	0.0042	29	c.238 others(48): Show c.2381-1747_2381-1719dupGATATATATAATATATATAGATATAT ATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	658629	A A	AATATATA others(22): Show AATATATATATATATTTTATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0003 a0001c0021t0003	a0001c0021t0003g0180 a0001c0021t0003g0180	1	257	0.0039	29	c.-43 others(48): Show c.-43-20797_-43-20769dupATATATATATATAAAATATATATATA TAT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC2_chr6_480154_698139	658645	T T	TTATATAT others(22): Show TTATATATATATATATATATATATATTTTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0171 a0001c0007t0003g0171	1	226	0.0044	29	c.-43 others(48): Show c.-43-20785_-43-20784insTAAAATATATATATATATATATATAT ATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC2_chr6_480154_698139	685869	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	183	0.0055	29	c.-44 others(46): Show c.-44+7149_-44+7150insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133755224	A A	ATATATAT others(22): Show ATATATATATAATATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	100	0.0100	29	c.151 others(50): Show c.1515-62082_1515-62081insTTATATATATTATATATATAATAT ATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72397625	A A	AAAAAAAA others(22): Show AAAAAAAAAATAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01243.hp2 HG01256.hp2 others(7): Show HG01123.hp2 HG01243.hp2 HG01256.hp2 HG02257.hp1 HG02559.hp2 HG02622.hp2 HG03225.hp2 HG03516.hp2 HG03927.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0019 a0001c0002t0009	a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0042 others(7): Show a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0061 a0001c0001t0003g0051 a0001c0001t0003g0057 a0001c0001t0018g0063 a0001c0001t0019g0035 a0001c0002t0009g0003	10	78	0.1282	29	c.198 others(50): Show c.1981-17756_1981-17755insATTTTATTTTATTTTATTTATTTT TTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72620486	G G	GAAATTTA others(22): Show GAAATTTAAATAATTTTAAATTTAAATTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18906.hp1 NA20129.hp1 HG03130.hp1 NA18906.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0013 a0001c0002t0001 a0002c0004t0013	a0001c0002t0001g0006 a0001c0002t0001g0007 a0002c0004t0013g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0002c0004t0013g0005	3	99	0.0303	29	c.670 others(48): Show c.670-44847_670-44819dupAAAATTTAAATTTAAAATTATTTAAA TTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72767808	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0093 a0001c0003t0001g0093	1	11	0.0909	29	c.114 others(48): Show c.114-26340_114-26339insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXOSC1_chr10_97430909_97451006	97449861	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	177	0.0056	29	c.-38 others(40): Show c.-3877_-3876insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EXOSC1	ENSG00000171311.13	transcript	ENST00000370902.8	protein_coding		3856		chr10	TogoVar
EXT1_chr8_117789490_118116826	117858810	C C	CAAGGCAG others(22): Show CAAGGCAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0102 a0001c0001t0008g0102	1	74	0.0135	29	c.963 others(48): Show c.963-21610_963-21609insTCCTTCCTTCCTTCCTTCCTTCCTGC CTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXTL1_chr1_26016775_26041464	26027693	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02683.hp2 HG01175.hp1 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0002c0002t0003 a0001c0001t0025 a0002c0002t0003	a0001c0001t0025g0070 a0002c0002t0003g0069 a0001c0001t0025g0070 a0002c0002t0003g0069	2	336	0.0060	29	c.780 others(46): Show c.780-1485_780-1484insAAAAAAAAAAAAAGAAAAAAAAAAAAAA A	EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EYA2_chr20_46889843_47193844	46986412	A A	AATATCTA others(22): Show AATATCTATATATATAATATATAAATCTAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	236	0.0042	29	c.-10 others(46): Show c.-10-3566_-10-3565insATCTATATATCTATATATATAATATATA A	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47148058	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0015	1	196	0.0051	29	c.978 others(46): Show c.978+4925_978+4926insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19081.hp2 HG02615.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0004g0349 a0001c0001t0001g0005 a0001c0001t0004g0349	2	99	0.0202	29	c.-68 others(48): Show c.-68-15034_-68-15033insATATATATATATATATATATATATAT ATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18992.hp2 HG02040.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0079 a0001c0001t0003g0048 a0001c0001t0003g0079	2	99	0.0202	29	c.-68 others(48): Show c.-68-15034_-68-15033insAAATATATATATATATATATATATAT ATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	98	0.0102	29	c.-68 others(48): Show c.-68-15034_-68-15033insAAAAATATATATATATATATATATAT ATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0024 a0001c0001t0007g0024	1	98	0.0102	29	c.-68 others(48): Show c.-68-15034_-68-15033insAAAAAAAAATATATATATATATATAT ATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar

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