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
EYA2_chr20_46889843_47193844	46908870	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0085 a0001c0003t0003g0085	1	238	0.0042	22	c.-11 others(41): Show c.-11+13899_-11+13920dupTTTTTTTTTTTTTTTTTTTTTT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GACTCTCT others(15): Show GACTCTCTCTCCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	238	0.0042	22	c.-10 others(39): Show c.-10-2085_-10-2084insACTCTCTCTCCCTCTCTCTCTC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GACTCTCT others(15): Show GACTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG04184.hp2 HG04199.hp1 others(1): Show HG02976.hp1 HG04184.hp2 HG04199.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0001g0094 a0001c0001t0002g0199 a0001c0001t0003g0154 others(1): Show a0001c0001t0001g0094 a0001c0001t0002g0199 a0001c0001t0003g0154 a0001c0003t0002g0146	4	238	0.0168	22	c.-10 others(39): Show c.-10-2085_-10-2084insACTCTCTCTCTCTCTCTCTCTC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	238	0.0042	22	c.-10 others(39): Show c.-10-2036_-10-2035insCTCTCTATATATATATATATAT	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(15): Show CTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03942.hp2 HG02717.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0138 a0001c0001t0003g0177 a0001c0001t0001g0138 a0001c0001t0003g0177	2	238	0.0084	22	c.-10 others(39): Show c.-10-2036_-10-2035insCTCTCTCTCTCTATATATATAT	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(15): Show CTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02015.hp1 NA18906.hp1 HG01891.hp2 HG02015.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 a0001c0001t0001 a0001c0002t0001 a0001c0003t0003	a0001c0001t0001g0047 a0001c0002t0001g0133 a0001c0003t0003g0085 a0001c0001t0001g0047 a0001c0002t0001g0133 a0001c0003t0003g0085	3	238	0.0126	22	c.-10 others(39): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47021859	T T	TGGATTTA others(15): Show TGGATTTAGAAAGTCTCTGTGTC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0159 a0008c0014t0001g0159	1	238	0.0042	22	c.415 others(39): Show c.415+5563_415+5584dupGGATTTAGAAAGTCTCTGTGTC	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(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	238	0.0042	22	c.416 others(39): Show c.416-8776_416-8755dupGTGTGTGTGTGTGTGTGTGTGT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA3_chr1_27965344_28093610	28062657	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01515.hp2 NA18965.hp2 HG00597.hp1 HG01515.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0001t0002g0262 a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0001t0002g0262	3	392	0.0077	22	c.-68 others(39): Show c.-68-4585_-68-4564dupACACACACACACACACACACAC	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073103	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03098.hp2 HG03540.hp2 HG02055.hp2 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0384 a0001c0001t0005g0286 a0001c0001t0005g0290 a0001c0001t0004g0384 a0001c0001t0005g0286 a0001c0001t0005g0290	3	392	0.0077	22	c.-68 others(41): Show c.-68-15031_-68-15010dupTATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	392	0.0026	22	c.-68 others(41): Show c.-68-15034_-68-15033insAATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	392	0.0026	22	c.-68 others(41): Show c.-68-15034_-68-15033insAAAATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19077.hp1 NA20905.hp2 HG02056.hp1 NA19077.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0220 a0001c0001t0002g0237 a0001c0001t0002g0095 a0001c0001t0002g0220 a0001c0001t0002g0237	3	392	0.0077	22	c.-68 others(41): Show c.-68-15034_-68-15033insAAAAAATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG03834.hp2 HG00099.hp1 HG00735.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0246 a0001c0001t0002g0256 a0001c0001t0002g0257	3	392	0.0077	22	c.-68 others(41): Show c.-68-15034_-68-15033insAAAAAAAATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133273097	G G	GTATATAT others(15): Show GTATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp2 NA18992.hp2 HG03927.hp1 HG03927.hp2 NA18992.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0037 a0002c0002t0001 a0001c0001t0037 a0002c0002t0001	a0001c0001t0037g0236 a0002c0002t0001g0192 a0002c0002t0001g0198 a0001c0001t0037g0236 a0002c0002t0001g0192 a0002c0002t0001g0198	3	264	0.0114	22	c.-65 others(39): Show c.-65-1618_-65-1597dupTATATATATATATATATATAAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133273097	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02257.hp2 others(2): Show HG01884.hp2 HG01891.hp2 HG02257.hp2 HG02922.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0014 a0002c0002t0016 a0002c0002t0007 a0002c0002t0014 a0002c0002t0016	a0002c0002t0007g0131 a0002c0002t0007g0132 a0002c0002t0014g0128 others(2): Show a0002c0002t0007g0131 a0002c0002t0007g0132 a0002c0002t0014g0128 a0002c0002t0014g0129 a0002c0002t0016g0055	5	264	0.0189	22	c.-65 others(39): Show c.-65-1618_-65-1617insGTATATATATATATATATATAT	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(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18947.hp1 NA19004.hp1 HG03491.hp1 NA18947.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0244 a0001c0001t0001g0262 a0001c0001t0002g0202 a0001c0001t0001g0244 a0001c0001t0001g0262 a0001c0001t0002g0202	3	264	0.0114	22	c.-65 others(39): Show c.-65-1599_-65-1598insTAAATATATATATATATATATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133277413	A A	ATAAATCA others(15): Show ATAAATCAGACTTCCCTGTCACT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	264	0.0038	22	c.33+ others(37): Show c.33+2606_33+2627dupCAGACTTCCCTGTCACTTAAAT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133294023	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01975.hp1 HG03453.hp2 HG01934.hp2 HG01975.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0004 a0001c0001t0002 a0002c0002t0001 a0002c0002t0004	a0001c0001t0002g0199 a0002c0002t0001g0030 a0002c0002t0004g0053 a0001c0001t0002g0199 a0002c0002t0001g0030 a0002c0002t0004g0053	3	264	0.0114	22	c.33+ others(39): Show c.33+19229_33+19250dupTATATATATATATATATATATA	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(15): Show TATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	264	0.0038	22	c.33+ others(39): Show c.33+19250_33+19251insTATATATATATATATATAAAAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133342605	A A	ATATATAT others(15): Show ATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0263 a0002c0002t0010g0263	1	264	0.0038	22	c.34- others(39): Show c.34-39787_34-39786insTATATATATATATATATATATC	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19			chr6	TogoVar
EYA4_chr6_133236357_133537128	133439049	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03239.hp2 NA18989.hp2 HG01081.hp2 HG03239.hp2 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0216 a0001c0001t0003g0108 a0002c0002t0001g0040 a0001c0001t0001g0216 a0001c0001t0003g0108 a0002c0002t0001g0040	3	264	0.0114	22	c.84- others(37): Show c.84-7575_84-7554dupAAAAAAAAAAAAAAAAAAAAAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133520764	C C	CATGGTAC others(15): Show CATGGTACTGGTACCAAAACAGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0138 a0002c0002t0003g0138	1	264	0.0038	22	c.161 others(41): Show c.1617-2292_1617-2291insATGGTACTGGTACCAAAACAGA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	17/19			chr6	TogoVar
EYS_chr6_63714980_65712226	63727737	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0013 a0013	a0013c0005 a0013c0005	a0013c0005t0001 a0013c0005t0001	a0013c0005t0001g0014 a0013c0005t0001g0014	1	24	0.0417	22	c.807 others(41): Show c.8072-1058_8072-1057insATATATATATATATATATATTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	41/42			chr6	TogoVar
EYS_chr6_63714980_65712226	63753144	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0001 a0016c0022t0001	a0016c0022t0001g0011 a0016c0022t0001g0011	1	24	0.0417	22	c.807 others(41): Show c.8071+9316_8071+9317insCATATATATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	41/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64085340	G G	GCGCACAC others(15): Show GCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0002 a0006c0017t0001g0002	1	24	0.0417	22	c.642 others(41): Show c.6425-3339_6425-3338insTGTGTGTGTGTGTGTGTGTGCG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64085340	G G	GCGCGCAC others(15): Show GCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0004 a0007c0006t0001g0004	1	24	0.0417	22	c.642 others(41): Show c.6425-3339_6425-3338insTGTGTGTGTGTGTGTGTGCGCG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64297977	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0023 a0010c0015t0002g0023	1	24	0.0417	22	c.619 others(41): Show c.6191+8971_6191+8992dupTTTTTTTTTTTTTTTTTTTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64766649	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0020 a0003c0008t0002g0020	1	24	0.0417	22	c.344 others(43): Show c.3443+46728_3443+46729insATATATATATATATATATTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64792857	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0001 a0004c0024t0001	a0004c0024t0001g0001 a0004c0024t0001g0001	1	24	0.0417	22	c.344 others(43): Show c.3443+20520_3443+20521insACACACACACACACACACACAC	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64989394	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02886.hp2 others(1): Show HG02630.hp1 HG02809.hp1 HG02886.hp2 HG03209.hp2	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0021	a0002c0009 a0003c0008 a0008c0001 others(1): Show a0002c0009 a0003c0008 a0008c0001 a0021c0007	a0002c0009t0001 a0003c0008t0002 a0008c0001t0001 others(1): Show a0002c0009t0001 a0003c0008t0002 a0008c0001t0001 a0021c0007t0001	a0002c0009t0001g0012 a0003c0008t0002g0020 a0008c0001t0001g0013 others(1): Show a0002c0009t0001g0012 a0003c0008t0002g0020 a0008c0001t0001g0013 a0021c0007t0001g0009	4	24	0.1667	22	c.225 others(41): Show c.2259+8166_2259+8187dupATATATATATATATATATATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	14/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65263703	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0021 a0002c0012t0002g0021	1	24	0.0417	22	c.202 others(43): Show c.2023+32138_2023+32159dupCACACACACACACACACACACA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65271128	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02965.hp1 HG02896.hp1 HG02965.hp1	a0011 a0013 a0011 a0013	a0011c0010 a0013c0005 a0011c0010 a0013c0005	a0011c0010t0001 a0013c0005t0001 a0011c0010t0001 a0013c0005t0001	a0011c0010t0001g0015 a0013c0005t0001g0014 a0011c0010t0001g0015 a0013c0005t0001g0014	2	24	0.0833	22	c.202 others(43): Show c.2023+24713_2023+24734dupTATATATATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65278328	A A	ATATATAT others(15): Show ATATATATAGAATCTATATATTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03195.hp2 HG02630.hp2 HG03195.hp2	a0003 a0019 a0003 a0019	a0003c0021 a0019c0023 a0003c0021 a0019c0023	a0003c0021t0001 a0019c0023t0001 a0003c0021t0001 a0019c0023t0001	a0003c0021t0001g0008 a0019c0023t0001g0010 a0003c0021t0001g0008 a0019c0023t0001g0010	2	24	0.0833	22	c.202 others(43): Show c.2023+17513_2023+17534dupGAATATATAGATTCTATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65519708	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0021 a0002c0012t0002g0021	1	24	0.0417	22	c.-33 others(43): Show c.-332-23716_-332-23715insAAAAAAAAAAAATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	2/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65556387	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0004 a0007c0006t0001g0004	1	24	0.0417	22	c.-33 others(43): Show c.-332-60416_-332-60395dupCACACACACACACACACACACA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	2/42			chr6	TogoVar
EZH2_chr7_148802383_148889291	148839061	G G	GAAGGAGA others(15): Show GAAGGAGAAGGAAGGAAGGAAGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	380	0.0026	22	c.247 others(39): Show c.247-6312_247-6311insACTTCCTTCCTTCCTTCTCCTT	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	3/19			chr7	TogoVar
EZHIP_chrX_51401948_51413843	51409476	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp2 HG02818.hp1 others(8): Show HG02723.hp1 HG02723.hp2 HG02818.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0006c0010	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0006c0010t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0008t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0008t0001g0000 a0006c0010t0001g0000	11	295	0.0373	22	c.94 others(31): Show c.948_*949insGTGTGTGTGTGTGTGTGTGTGT	EZHIP	ENSG00000187690.4	transcript	ENST00000342995.4	protein_coding		634		chrX	TogoVar
F10_chr13_113117799_113154529	113148343	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	412	0.0024	22	c.866 others(37): Show c.866-572_866-571insTATATATATATATATATATATA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F10_chr13_113117799_113154529	113148345	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19056.hp2 NA19079.hp1 NA18944.hp2 NA19056.hp2 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0223 a0001c0002t0001g0015 a0001c0002t0001g0223	3	412	0.0073	22	c.866 others(37): Show c.866-570_866-569insAATATATATATATATATATATA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F10_chr13_113117799_113154529	113148345	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0213	1	412	0.0024	22	c.866 others(37): Show c.866-553_866-552insATATATATATATATATATATAT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F13A1_chr6_6139084_6325662	6210324	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(33): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG02083.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp2 HG02698.hp2 HG02895.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp2 NA18942.hp1 NA18952.hp2 NA18953.hp1 NA18970.hp1 NA18986.hp2 NA19060.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011	a0001c0001 a0001c0009 a0002c0002 others(7): Show a0001c0001 a0001c0009 a0002c0002 a0002c0013 a0003c0003 a0003c0017 a0004c0004 a0005c0005 a0006c0026 a0011c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0009t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0013t0002 a0003c0003t0002 a0003c0003t0011 a0003c0017t0005 a0004c0004t0003 a0004c0004t0006 a0005c0005t0002 a0006c0026t0006 a0011c0018t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0040 others(33): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0141 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0002g0028 a0001c0001t0002g0083 a0001c0001t0002g0125 a0001c0001t0002g0134 a0001c0001t0002g0158 a0001c0001t0004g0011 a0001c0001t0004g0082 a0001c0001t0004g0225 a0001c0001t0007g0257 a0001c0009t0001g0168 a0002c0002t0001g0021 a0002c0002t0001g0041 a0002c0002t0001g0099 a0002c0002t0001g0143 a0002c0002t0001g0231 a0002c0002t0002g0020 a0002c0002t0002g0274 a0002c0002t0004g0081 a0002c0013t0002g0242 a0003c0003t0002g0157 a0003c0003t0011g0089 a0003c0017t0005g0154 a0004c0004t0003g0013 a0004c0004t0003g0259 a0004c0004t0006g0080 a0005c0005t0002g0016 a0006c0026t0006g0067 a0011c0018t0001g0088	36	292	0.1233	22	c.111 others(43): Show c.1112+11687_1112+11708dupATATATATATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	8/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6238715	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0068 a0003c0003t0002g0068	1	292	0.0034	22	c.798 others(39): Show c.798+9596_798+9597insATATATATATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	6/14			chr6	TogoVar
F5_chr1_169506951_169591481	169522096	G G	GTTAATTG others(15): Show GTTAATTGAAATATACAAAGTAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp1 HG06807.hp1 NA18522.hp1	a0041 a0042 a0041 a0042	a0041c0074 a0042c0062 a0041c0074 a0042c0062	a0041c0074t0005 a0042c0062t0005 a0041c0074t0005 a0042c0062t0005	a0041c0074t0005g0292 a0042c0062t0005g0297 a0041c0074t0005g0292 a0042c0062t0005g0297	2	306	0.0065	22	c.604 others(41): Show c.6048+1079_6048+1100dupATACTTTGTATATTTCAATTAA	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	21/24			chr1	TogoVar
F5_chr1_169506951_169591481	169556425	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02895.hp2 HG02280.hp2 HG02572.hp2 HG02895.hp2	a0010 a0015 a0018 a0010 a0015 a0018	a0010c0012 a0015c0033 a0018c0034 a0010c0012 a0015c0033 a0018c0034	a0010c0012t0002 a0015c0033t0006 a0018c0034t0002 a0010c0012t0002 a0015c0033t0006 a0018c0034t0002	a0010c0012t0002g0042 a0015c0033t0006g0008 a0018c0034t0002g0006 a0010c0012t0002g0042 a0015c0033t0006g0008 a0018c0034t0002g0006	3	306	0.0098	22	c.952 others(37): Show c.952+220_952+221insTTTTTTTTTTTTTTTTTTTTTT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169577560	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG04115.hp1 NA18747.hp1 HG01496.hp2 HG04115.hp1 NA18747.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0003c0005t0003 a0001c0002t0002 a0003c0005t0003	a0001c0002t0002g0157 a0001c0002t0002g0158 a0003c0005t0003g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0003c0005t0003g0156	3	306	0.0098	22	c.250 others(39): Show c.250+4849_250+4870dupATATATATATATATATATATAT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	2/24			chr1	TogoVar
F7_chr13_113100791_113125685	113105036	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0084 a0002c0002t0003g0084	1	400	0.0025	22	c.-80 others(31): Show c.-806_-805insATATATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		754		chr13	TogoVar
F7_chr13_113100791_113125685	113105038	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0030 a0002c0002t0003g0030	1	400	0.0025	22	c.-80 others(31): Show c.-804_-803insATATATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		752		chr13	TogoVar
F8A2_chrX_155377095_155388801	155384120	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG02132.hp1 others(2): Show HG00544.hp2 HG00741.hp1 HG02132.hp1 HG03834.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	5	267	0.0187	22	c.89 others(31): Show c.890_*891insTTTTTTTTTTTTTTTTTTTTTT	F8A2	ENSG00000288709.1	transcript	ENST00000369505.5	protein_coding		320		chrX	TogoVar
F8A3_chrX_155451914_155463620	155455276	A A	AATCAGTG others(15): Show AATCAGTGTTGACTTTTGATACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	270	0.0037	22	c.22 others(33): Show c.2208_*2209insAGTATCAAAAGTCAACACTGAT	F8A3	ENSG00000277150.2	transcript	ENST00000622749.2	protein_coding		1637		chrX	TogoVar

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