Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
EXT1_chr8_117789490_118116826	117870823	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02109.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0033 a0001c0001t0012 a0001c0001t0033	a0001c0001t0012g0173 a0001c0001t0033g0015 a0001c0001t0012g0173 a0001c0001t0033g0015	2	190	0.0105	20	c.963 others(39): Show c.963-33642_963-33623dupTGTGTGTGTGTGTGTGTGTG	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117874575	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03041.hp1 HG03195.hp2 others(1): Show HG02280.hp2 HG03041.hp1 HG03195.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 others(1): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0002t0066	a0001c0001t0006g0156 a0001c0001t0014g0009 a0001c0001t0016g0076 others(1): Show a0001c0001t0006g0156 a0001c0001t0014g0009 a0001c0001t0016g0076 a0001c0002t0066g0179	4	190	0.0211	20	c.963 others(39): Show c.963-37375_963-37374insTTTTTTTTTTTTTTTTTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117897591	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0173 a0001c0001t0012g0173	1	190	0.0053	20	c.963 others(39): Show c.963-60410_963-60391dupAAAAAAAAAAAAAAAAAAAA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117915855	C C	CAAACAAA others(13): Show CAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0054 a0001c0004t0001g0054	1	190	0.0053	20	c.963 others(39): Show c.963-78674_963-78655dupTGTTTTGTTTTGTTTTGTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117965993	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0126 a0001c0001t0006g0126	1	190	0.0053	20	c.963 others(41): Show c.963-128793_963-128792insGTGTGTGTGTGTGTGTGTGT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117973886	G G	GAAAGGAA others(13): Show GAAAGGAAAGGAAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19000.hp2 HG02723.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0071 a0001c0005t0053 a0001c0001t0071 a0001c0005t0053	a0001c0001t0071g0181 a0001c0005t0053g0068 a0001c0001t0071g0181 a0001c0005t0053g0068	2	190	0.0105	20	c.962 others(41): Show c.962+136198_962+136199insTCTTTCCTTTCCTTTCCTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117973930	C C	CAAGGAAG others(13): Show CAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00639.hp1 others(6): Show HG00438.hp2 HG00558.hp2 HG00639.hp1 HG01243.hp2 HG02145.hp1 HG02809.hp2 HG03041.hp2 HG03195.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0004t0015 a0001c0004t0060 a0001c0005t0057 a0001c0006t0004	a0001c0001t0001g0146 a0001c0001t0004g0039 a0001c0001t0006g0033 others(6): Show a0001c0001t0001g0146 a0001c0001t0004g0039 a0001c0001t0006g0033 a0001c0001t0006g0156 a0001c0001t0008g0069 a0001c0004t0015g0158 a0001c0004t0060g0165 a0001c0005t0057g0132 a0001c0006t0004g0020	9	190	0.0474	20	c.962 others(41): Show c.962+136135_962+136154dupCCTTCCTTCCTTCCTTCCTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118019246	T T	TGAAAGAA others(13): Show TGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02129.hp2 HG02976.hp2 others(6): Show HG00609.hp2 HG02129.hp2 HG02976.hp2 HG03704.hp1 NA18941.hp1 NA18952.hp2 NA18983.hp2 NA19004.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0003t0070	a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0065 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0003g0040 a0001c0001t0004g0143 a0001c0002t0003g0064 a0001c0003t0070g0185	9	190	0.0474	20	c.962 others(39): Show c.962+90819_962+90838dupTTTCTTTCTTTCTTTCTTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118041665	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0056 a0001c0010t0056	a0001c0010t0056g0081 a0001c0010t0056g0081	1	190	0.0053	20	c.962 others(39): Show c.962+68400_962+68419dupCTTCCTTCCTTCCTTCCTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118073632	A A	AAGAAGAG others(13): Show AAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	190	0.0053	20	c.962 others(39): Show c.962+36433_962+36452dupCTTCTCTTCTCTTCTCTTCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118073705	A A	AAGAGAAG others(13): Show AAGAGAAGAGAAGAGAAGAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02055.hp1 others(3): Show HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02572.hp1 HG02976.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0001t0023 a0001c0001t0032 others(3): Show a0001c0001t0009 a0001c0001t0023 a0001c0001t0032 a0001c0001t0033 a0001c0004t0015 a0001c0004t0065	a0001c0001t0009g0049 a0001c0001t0023g0168 a0001c0001t0032g0011 others(3): Show a0001c0001t0009g0049 a0001c0001t0023g0168 a0001c0001t0032g0011 a0001c0001t0033g0015 a0001c0004t0015g0158 a0001c0004t0065g0172	6	190	0.0316	20	c.962 others(39): Show c.962+36379_962+36380insCCTCTTCTCTTCTCTTCTCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118113691	C C	CTATATAT others(13): Show CTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0103 a0001c0002t0002g0103	1	190	0.0053	20	c.-26 others(31): Show c.-2646_-2645insTATATATATATATATATATA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1866		chr8	TogoVar
EXT1_chr8_117789490_118116826	118113693	C C	CTATATAT others(13): Show CTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03492.hp2 HG03471.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0027 a0001c0001t0006g0126 a0001c0001t0005g0027 a0001c0001t0006g0126	2	190	0.0105	20	c.-26 others(31): Show c.-2648_-2647insTATATATATATATATATATA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1868		chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTATAT others(13): Show CTCTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0182 a0001c0001t0069g0182	1	190	0.0053	20	c.-26 others(31): Show c.-2650_-2649insTATATATATATATATATAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0142 a0001c0001t0007g0142	1	190	0.0053	20	c.-26 others(31): Show c.-2650_-2649insTATATATATATAGAGAGAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0147 a0001c0002t0007g0147	1	190	0.0053	20	c.-26 others(31): Show c.-2650_-2649insTATATATAGAGAGAGAGAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	190	0.0053	20	c.-26 others(31): Show c.-2650_-2649insTATAGAGAGAGAGAGAGAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT2_chr11_44090678_44256962	44119137	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03486.hp1 HG01515.hp1 HG03486.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0002 a0004c0012t0002 a0001c0001t0002 a0004c0012t0002	a0001c0001t0002g0202 a0004c0012t0002g0203 a0001c0001t0002g0202 a0004c0012t0002g0203	2	334	0.0060	20	c.743 others(37): Show c.743+4855_743+4856insCATATATATATATATATATA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44119169	T T	TATATATA others(13): Show TATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0018 a0001c0002t0004g0018	1	334	0.0030	20	c.743 others(37): Show c.743+4869_743+4870insTATATATATATATACACACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44119169	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01258.hp2 HG03927.hp2 others(6): Show HG00544.hp2 HG01258.hp2 HG03927.hp2 NA18950.hp1 NA18954.hp2 NA18959.hp2 NA19010.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0009 a0001c0001t0023 others(2): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0023 a0001c0002t0002 a0001c0002t0004	a0001c0001t0005g0277 a0001c0001t0009g0276 a0001c0001t0023g0258 others(6): Show a0001c0001t0005g0277 a0001c0001t0009g0276 a0001c0001t0023g0258 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0004g0038	9	334	0.0270	20	c.743 others(37): Show c.743+4869_743+4870insTATATATATATATATACACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44186982	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	334	0.0030	20	c.130 others(41): Show c.1306-10802_1306-10783dupTTCCTTCCTTCCTTCCTTCC	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXTL1_chr1_26016775_26041464	26027689	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0012 a0003c0004t0012	a0003c0004t0012g0033 a0003c0004t0012g0033	2	372	0.0054	20	c.780 others(37): Show c.780-1485_780-1484insAAAAAAAAAAAAAAAAAAAA	EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EXTL1_chr1_26016775_26041464	26027692	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00639.hp1 others(33): Show HG00408.hp1 HG00423.hp2 HG00639.hp1 HG00673.hp2 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01884.hp2 HG02056.hp1 HG02129.hp1 HG02135.hp1 HG02717.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 NA18612.hp2 NA18944.hp1 NA18959.hp2 NA18960.hp1 NA18979.hp2 NA18986.hp2 NA18992.hp1 NA18994.hp1 NA19000.hp1 NA19002.hp2 NA19011.hp2 NA19083.hp1 NA19088.hp2 NA20300.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0027 a0002c0002t0001g0028 others(3): Show a0002c0002t0001g0004 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0056 a0002c0002t0001g0057	36	372	0.0968	20	c.780 others(37): Show c.780-1487_780-1486insGAAAAGAAAAAAAAAAAAAA	EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EXTL1_chr1_26016775_26041464	26027693	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18522.hp1 NA18988.hp1 others(1): Show HG03579.hp1 NA18522.hp1 NA18988.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0003 a0002c0003t0001 a0002c0002t0003 a0002c0003t0001	a0002c0002t0003g0068 a0002c0003t0001g0020 a0002c0002t0003g0068 a0002c0003t0001g0020	4	372	0.0108	20	c.780 others(37): Show c.780-1485_780-1484insAAAAGAAAAAAAAAAAAAAA	EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EXTL3_chr8_28696501_28760599	28754033	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0107 a0002c0003t0107	a0002c0003t0107g0012 a0002c0003t0107g0012	1	380	0.0026	20	c.31 others(31): Show c.3176_*3195dupGTGTGTGTGTGTGTGTGTGT	EXTL3	ENSG00000012232.10	transcript	ENST00000220562.9	protein_coding	7/7	3196	INFO_REALIGN_3_PRIME	chr8	TogoVar
EYA1_chr8_71192433_71367069	71339558	G G	GCCCTTCC others(13): Show GCCCTTCCACACCAACTATTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0120 a0001c0003t0002g0120	1	232	0.0043	20	c.125 others(37): Show c.125-5404_125-5385dupAAATAGTTGGTGTGGAAGGG	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	3/17			chr8	TogoVar
EYA1_chr8_71192433_71367069	71346431	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	232	0.0043	20	c.124 others(37): Show c.124+8331_124+8350dupATATATATATATATATATAT	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	3/17			chr8	TogoVar
EYA1_chr8_71192433_71367069	71347312	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	232	0.0043	20	c.124 others(37): Show c.124+7450_124+7469dupTAAATAAATAAATAAATAAA	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	3/17			chr8	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GACTCTCT others(13): Show GACTCTCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG02257.hp2 HG00735.hp2 HG01106.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0001c0001t0002 a0001c0001t0003 a0001c0003t0003	a0001c0001t0002g0043 a0001c0001t0003g0116 a0001c0003t0003g0045 a0001c0001t0002g0043 a0001c0001t0003g0116 a0001c0003t0003g0045	3	238	0.0126	20	c.-10 others(37): Show c.-10-2085_-10-2084insACTCTCTCTCCCTCTCTCTC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0218 a0001c0003t0003g0218	1	238	0.0042	20	c.-10 others(37): Show c.-10-2055_-10-2036dupCTCTCTCTCTCTCTCTCTCT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	238	0.0042	20	c.-10 others(37): Show c.-10-2036_-10-2035insCTCTCTCTATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	238	0.0042	20	c.-10 others(37): Show c.-10-2036_-10-2035insCTCTCTCTCTCTATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0226 a0001c0003t0002g0226	1	238	0.0042	20	c.-10 others(37): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47057139	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	238	0.0042	20	c.416 others(39): Show c.416-15020_416-15001dupGGAAGGAAGGAAGGAAGGAA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47063392	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	238	0.0042	20	c.416 others(37): Show c.416-8774_416-8755dupGTGTGTGTGTGTGTGTGTGT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	28020667	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	392	0.0026	20	c.500 others(37): Show c.500-3448_500-3429dupACACACACACACACACACAC	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	7/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28062657	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	392	0.0026	20	c.-68 others(37): Show c.-68-4583_-68-4564dupACACACACACACACACACAC	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01346.hp1 HG01516.hp1 others(7): Show HG00140.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG02129.hp1 NA18747.hp2 NA18965.hp1 NA18999.hp1 NA19043.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0028 a0001c0001t0002 a0001c0001t0003 a0001c0001t0028	a0001c0001t0002g0096 a0001c0001t0002g0226 a0001c0001t0002g0227 others(7): Show a0001c0001t0002g0096 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0003g0236 a0001c0001t0028g0251	10	392	0.0255	20	c.-68 others(39): Show c.-68-15034_-68-15033insAAAATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18961.hp1 NA18964.hp1 HG01081.hp2 NA18961.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0231 a0001c0001t0002g0242 a0001c0001t0008g0254 a0001c0001t0002g0231 a0001c0001t0002g0242 a0001c0001t0008g0254	3	392	0.0077	20	c.-68 others(39): Show c.-68-15034_-68-15033insAAAAAATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084595	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	392	0.0026	20	c.-69 others(37): Show c.-69+3928_-69+3929insAATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084595	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0035 a0001c0001t0027g0035	1	392	0.0026	20	c.-69 others(37): Show c.-69+3928_-69+3929insAAAATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28084595	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0032	1	392	0.0026	20	c.-69 others(37): Show c.-69+3928_-69+3929insAAAAAATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133273097	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03195.hp1 HG02723.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0022 a0002c0002t0003 a0002c0002t0022	a0002c0002t0003g0114 a0002c0002t0022g0127 a0002c0002t0003g0114 a0002c0002t0022g0127	2	264	0.0076	20	c.-65 others(37): Show c.-65-1618_-65-1617insGTATATATATATATATATAT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133273098	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(71): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02572.hp2 HG02602.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03139.hp1 HG03490.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18952.hp1 NA18962.hp1 NA18963.hp2 NA18970.hp2 NA18971.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18994.hp2 NA19006.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19074.hp1 NA19076.hp1 NA19078.hp1 NA19085.hp2 NA19088.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0040 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0010 a0002c0002t0017 a0002c0002t0023 a0002c0002t0024 a0002c0002t0033 a0002c0002t0039 a0002c0002t0052	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 others(71): Show a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0214 a0001c0001t0002g0225 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0003g0215 a0001c0001t0003g0249 a0001c0001t0003g0260 a0001c0001t0009g0230 a0001c0001t0018g0222 a0001c0001t0018g0240 a0001c0001t0025g0210 a0001c0001t0026g0228 a0001c0001t0029g0010 a0001c0001t0030g0139 a0001c0001t0040g0250 a0002c0002t0001g0025 a0002c0002t0001g0149 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0212 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0239 a0002c0002t0001g0252 a0002c0002t0002g0238 a0002c0002t0003g0002 a0002c0002t0003g0229 a0002c0002t0004g0181 a0002c0002t0005g0219 a0002c0002t0005g0226 a0002c0002t0005g0227 a0002c0002t0005g0241 a0002c0002t0005g0242 a0002c0002t0006g0044 a0002c0002t0006g0081 a0002c0002t0006g0245 a0002c0002t0009g0148 a0002c0002t0010g0263 a0002c0002t0017g0201 a0002c0002t0023g0204 a0002c0002t0023g0205 a0002c0002t0024g0218 a0002c0002t0033g0255 a0002c0002t0039g0213 a0002c0002t0052g0197	74	264	0.2803	20	c.-65 others(37): Show c.-65-1616_-65-1597dupTATATATATATATATATAAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133273098	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03486.hp2 NA20129.hp2 HG03209.hp1 HG03486.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007	a0002c0002t0001g0182 a0002c0002t0003g0254 a0002c0002t0007g0183 a0002c0002t0001g0182 a0002c0002t0003g0254 a0002c0002t0007g0183	3	264	0.0114	20	c.-65 others(37): Show c.-65-1599_-65-1598insCATATATATATATATATATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133294023	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02071.hp1 HG02615.hp1 others(2): Show HG00438.hp1 HG02071.hp1 HG02615.hp1 HG02622.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0002c0002t0048 others(1): Show a0001c0001t0001 a0002c0002t0006 a0002c0002t0048 a0002c0002t0051	a0001c0001t0001g0009 a0001c0001t0001g0184 a0002c0002t0006g0097 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0184 a0002c0002t0006g0097 a0002c0002t0048g0118 a0002c0002t0051g0179	5	264	0.0189	20	c.33+ others(37): Show c.33+19231_33+19250dupTATATATATATATATATATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133294062	T T	TATATATA others(13): Show TATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	264	0.0038	20	c.33+ others(37): Show c.33+19250_33+19251insTATATATATATATATAAAAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133342574	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1 NA18947.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0002g0022 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0002g0022	3	264	0.0114	20	c.34- others(37): Show c.34-39806_34-39787dupTATATATATATATATATATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133428911	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0241 a0002c0002t0005g0241	1	264	0.0038	20	c.84- others(37): Show c.84-17707_84-17688dupTTTTTTTTTTTTTTTTTTTT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133439049	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	264	0.0038	20	c.84- others(35): Show c.84-7573_84-7554dupAAAAAAAAAAAAAAAAAAAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar

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