Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
EPHA2_chr1_16119337_16161069	16136303	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG02109.hp1 others(4): Show HG01106.hp1 HG01884.hp1 HG02109.hp1 HG02486.hp1 HG02809.hp1 HG02886.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0002t0001g0080 others(3): Show a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0002t0001g0080 a0001c0002t0001g0265 a0001c0005t0001g0015 a0001c0005t0001g0134	7	312	0.0224	15	c.131 others(32): Show c.1313-548_1313-534dupATTATTATTATTATT		EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16						chr1	TogoVar
EPHA2_chr1_16119337_16161069	16136713	A A	AAAGAAGA others(8): Show AAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG01884.hp1 others(11): Show HG01109.hp2 HG01123.hp2 HG01884.hp1 HG01978.hp2 HG02109.hp1 HG02258.hp1 HG02615.hp1 HG02615.hp2 HG03098.hp1 HG03710.hp2 HG06807.hp1 NA18957.hp2 NA19085.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0012t0001	a0001c0001t0001g0049 a0001c0001t0001g0101 a0001c0001t0001g0165 others(9): Show a0001c0001t0001g0049 a0001c0001t0001g0101 a0001c0001t0001g0165 a0001c0001t0001g0183 a0001c0001t0002g0094 a0001c0002t0001g0196 a0001c0005t0001g0015 a0001c0005t0001g0084 a0001c0005t0001g0135 a0001c0005t0001g0136 a0001c0005t0001g0137 a0001c0012t0001g0018	14	312	0.0449	15	c.131 others(32): Show c.1313-958_1313-944dupCTTCTTCTTCTTCTT		EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16						chr1	TogoVar
EPHA3_chr3_89102621_89487134	89136330	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG00741.hp1 others(20): Show HG00609.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp2 HG01981.hp2 HG02027.hp1 HG02132.hp1 HG02132.hp2 HG02300.hp1 HG02630.hp2 HG02735.hp2 HG03225.hp1 HG03239.hp2 NA18982.hp1 NA19009.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0006 a0002c0011	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 others(4): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0002c0003t0003 a0002c0003t0011 a0002c0006t0002 a0002c0011t0003	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0114 others(20): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0137 a0002c0002t0002g0145 a0002c0002t0004g0136 a0002c0003t0003g0015 a0002c0003t0003g0018 a0002c0003t0003g0019 a0002c0003t0003g0021 a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0027 a0002c0003t0003g0031 a0002c0003t0003g0033 a0002c0003t0003g0126 a0002c0003t0011g0020 a0002c0006t0002g0142 a0002c0006t0002g0147 a0002c0011t0003g0029	23	200	0.1150	15	c.153 others(32): Show c.153+9067_153+9081dupTTTTTTTTTTTTTTT		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89219688	G G	GTGTTTTT others(8): Show GTGTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01981.hp1 NA19070.hp2 others(2): Show HG01258.hp1 HG01981.hp1 NA19070.hp2 NA19079.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0104 a0001c0001t0001g0122 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0104 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0157	5	200	0.0250	15	c.814 others(32): Show c.814+9169_814+9170insGTTTTTTTTTGTTTT		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89219688	G G	GTGTTTTT others(8): Show GTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	200	0.0050	15	c.814 others(32): Show c.814+9169_814+9170insGTTTTTTTTTTTTTT		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89352902	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG03139.hp1 others(3): Show HG02559.hp1 HG02818.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG06807.hp2	a0002 a0002	a0002c0005 a0002c0013 a0002c0005 a0002c0013	a0002c0005t0005 a0002c0013t0005 a0002c0005t0005 a0002c0013t0005	a0002c0005t0005g0084 a0002c0005t0005g0085 a0002c0005t0005g0086 others(3): Show a0002c0005t0005g0084 a0002c0005t0005g0085 a0002c0005t0005g0086 a0002c0005t0005g0090 a0002c0005t0005g0091 a0002c0013t0005g0036	6	200	0.0300	15	c.130 others(36): Show c.1306+10819_1306+10833dupAAAAAAAAAAAAAAA		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221504344	T T	TGGAGGAG others(8): Show TGGAGGAGGAGAAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(82): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00735.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02698.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18952.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18968.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp2 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA19003.hp2 NA19009.hp1 NA19011.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp1 NA19078.hp2 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0039 a0001c0001t0049 a0001c0002t0001 a0001c0002t0012 a0001c0002t0029 a0001c0003t0001 a0001c0003t0003 a0001c0006t0003 a0003c0011t0002	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 others(82): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0119 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0001g0209 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0287 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0051 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0127 a0001c0001t0002g0142 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0206 a0001c0001t0002g0254 a0001c0001t0002g0263 a0001c0001t0002g0271 a0001c0001t0003g0289 a0001c0001t0004g0057 a0001c0001t0004g0074 a0001c0001t0004g0194 a0001c0001t0004g0291 a0001c0001t0005g0009 a0001c0001t0005g0015 a0001c0001t0005g0023 a0001c0001t0005g0049 a0001c0001t0005g0072 a0001c0001t0005g0165 a0001c0001t0006g0028 a0001c0001t0006g0228 a0001c0001t0008g0117 a0001c0001t0008g0132 a0001c0001t0008g0134 a0001c0001t0008g0135 a0001c0001t0010g0288 a0001c0001t0013g0290 a0001c0001t0013g0293 a0001c0001t0015g0244 a0001c0001t0015g0286 a0001c0001t0021g0156 a0001c0001t0030g0130 a0001c0001t0032g0251 a0001c0001t0034g0243 a0001c0001t0039g0131 a0001c0001t0049g0227 a0001c0002t0001g0125 a0001c0002t0001g0149 a0001c0002t0012g0099 a0001c0002t0012g0101 a0001c0002t0029g0269 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0003g0056 a0001c0003t0003g0161 a0001c0006t0003g0118 a0003c0011t0002g0010	85	294	0.2891	15	c.824 others(32): Show c.824-3187_824-3173dupTCCTTCTCCTCCTCC		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	3/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566872	A A	AAGAAGAA others(8): Show AAGAAGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0195	1	294	0.0034	15	c.159 others(32): Show c.159+1845_159+1846insCCTTCTTCTTCTTCT		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566872	A A	AAGAAGAA others(8): Show AAGAAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	294	0.0034	15	c.159 others(32): Show c.159+1845_159+1846insCCTTCTCCTTCTTCT		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566938	G G	GAGAAGAG others(8): Show GAGAAGAGGAAGAGGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18999.hp2 HG03516.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0022 a0001c0002t0007 a0001c0002t0022	a0001c0002t0007g0239 a0001c0002t0022g0090 a0001c0002t0007g0239 a0001c0002t0022g0090	2	294	0.0068	15	c.159 others(32): Show c.159+1779_159+1780insTCCTCTTCCTCTTCT		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566944	G G	GAGAAGAG others(8): Show GAGAAGAGGAAGAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0292 a0001c0003t0003g0292	1	294	0.0034	15	c.159 others(32): Show c.159+1773_159+1774insTCCTCTTCCTCTTCT		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566963	G G	GGAAGAAG others(8): Show GGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01433.hp1 others(5): Show HG01167.hp1 HG01169.hp2 HG01433.hp1 HG02055.hp1 HG02273.hp2 HG03942.hp1 NA19012.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0031 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0004t0035	a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0002g0044 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0002g0044 a0001c0001t0031g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0002g0043 a0001c0004t0035g0108	8	294	0.0272	15	c.159 others(32): Show c.159+1754_159+1755insTTCTTCTTCTTCTTC		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566969	G G	GGAAGAAG others(8): Show GGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02523.hp2 HG04199.hp1 others(8): Show HG01975.hp2 HG02523.hp2 HG04199.hp1 HG04199.hp2 NA18959.hp1 NA18968.hp1 NA18983.hp1 NA18991.hp2 NA19010.hp1 NA19087.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 a0001c0001t0042 a0001c0002t0004 a0001c0005t0001	a0001c0001t0001g0033 a0001c0001t0001g0151 a0001c0001t0001g0152 others(8): Show a0001c0001t0001g0033 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0002g0248 a0001c0001t0005g0116 a0001c0001t0021g0156 a0001c0001t0042g0153 a0001c0002t0004g0104 a0001c0005t0001g0034	11	294	0.0374	15	c.159 others(32): Show c.159+1734_159+1748dupTTCTTCTTCTTCTTC		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566969	G G	GGAAGAGG others(8): Show GGAAGAGGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	294	0.0034	15	c.159 others(32): Show c.159+1748_159+1749insTTCTTCTTCCTCTTC		EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17						chr2	TogoVar
EPHB1_chr3_134790260_135265467	134882765	C C	CCTTTCTT others(8): Show CCTTTCTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01978.hp2 HG03471.hp1 HG00323.hp1 HG01978.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0009 a0001c0003t0001 a0001c0004t0002 a0001c0001t0009 a0001c0003t0001 a0001c0004t0002	a0001c0001t0009g0042 a0001c0003t0001g0048 a0001c0004t0002g0033 a0001c0001t0009g0042 a0001c0003t0001g0048 a0001c0004t0002g0033	3	134	0.0224	15	c.59- others(32): Show c.59-43039_59-43038insTTTCTTTCTTTCTTT		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134882765	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01884.hp1 HG02055.hp1 others(7): Show HG01123.hp1 HG01884.hp1 HG02055.hp1 HG02818.hp1 HG02895.hp1 HG02970.hp2 HG03540.hp2 HG04115.hp1 HG04115.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0015 a0003c0014	a0001c0002t0002 a0001c0003t0004 a0001c0003t0005 others(5): Show a0001c0002t0002 a0001c0003t0004 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0006t0026 a0001c0015t0008 a0003c0014t0002	a0001c0002t0002g0073 a0001c0003t0004g0119 a0001c0003t0005g0099 others(7): Show a0001c0002t0002g0073 a0001c0003t0004g0119 a0001c0003t0005g0099 a0001c0004t0001g0067 a0001c0004t0001g0128 a0001c0004t0002g0004 a0001c0004t0002g0093 a0001c0006t0026g0117 a0001c0015t0008g0013 a0003c0014t0002g0031	10	134	0.0746	15	c.59- others(32): Show c.59-43051_59-43050insTTTCTTTCTTTCTTT		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15						chr3	TogoVar
EPHB1_chr3_134790260_135265467	134882813	T T	TTCTTTCT others(8): Show TTCTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	134	0.0075	15	c.59- others(32): Show c.59-43003_59-43002insTCTTTCTTTTCTTTC		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15						chr3	TogoVar
EPHB1_chr3_134790260_135265467	135052890	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0031 a0003c0014t0002g0031	1	134	0.0075	15	c.806 others(34): Show c.806-53557_806-53556insAAAAATATATATATA		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135182986	C C	CTTTCTTT others(8): Show CTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18522.hp2 NA18906.hp2 others(1): Show HG00733.hp2 NA18522.hp2 NA18906.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0015 a0001c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0015 a0001c0003t0001 a0001c0003t0011	a0001c0002t0001g0032 a0001c0002t0015g0108 a0001c0003t0001g0089 others(1): Show a0001c0002t0001g0032 a0001c0002t0015g0108 a0001c0003t0001g0089 a0001c0003t0011g0100	4	134	0.0299	15	c.188 others(34): Show c.1882+3037_1882+3051dupTCTTTTCTTTTCTTT		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB6_chr7_142850076_142876093	142865497	G G	GGCTTCTG others(8): Show GGCTTCTGCTGGGAAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG06807.hp1 HG06807.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0004 a0008c0016t0004	a0008c0016t0004g0098 a0008c0016t0004g0098	1	311	0.0032	15	c.976 others(22): Show c.976_990dupTCTGCTGGGAATGCT	p.Ser others(13): Show p.Ser326_Ala330dup	EPHB6	ENSG00000106123.12	transcript	ENST00000652003.1	protein_coding	8/20	1732/3999	991/3069	331/1022		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHX2_chr8_27486143_27550564	27487357	A A	ACTCTTCT others(8): Show ACTCTTCTCTTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01255.hp2 HG03239.hp2 others(4): Show HG01074.hp2 HG01255.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03704.hp2 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0021 a0001c0001 a0006c0021	a0001c0001t0001 a0006c0021t0001 a0001c0001t0001 a0006c0021t0001	a0001c0001t0001g0007 a0001c0001t0001g0114 a0001c0001t0001g0116 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0142 a0006c0021t0001g0007	7	374	0.0187	15	c.-38 others(26): Show c.-3852_-3851insCTCTTCTCTTCTCTT		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding					3785		chr8	TogoVar
EPHX2_chr8_27486143_27550564	27501324	T T	TTTCTTCT others(8): Show TTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp1 HG03927.hp1 others(4): Show HG01106.hp2 HG02055.hp1 HG03927.hp1 NA18981.hp1 NA19012.hp2 NA19062.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(4): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0002t0002g0231	7	374	0.0187	15	c.186 others(30): Show c.186+371_186+385dupCTTCTTCTTCTTCTT		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
EPHX2_chr8_27486143_27550564	27501389	T T	TCCTTCTT others(8): Show TCCTTCTTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG02647.hp2 others(1): Show HG02559.hp2 HG02615.hp1 HG02647.hp2 HG03209.hp1	a0003 a0003	a0003c0006 a0003c0007 a0003c0006 a0003c0007	a0003c0006t0002 a0003c0007t0004 a0003c0006t0002 a0003c0007t0004	a0003c0006t0002g0310 a0003c0007t0004g0314 a0003c0007t0004g0315 others(1): Show a0003c0006t0002g0310 a0003c0007t0004g0314 a0003c0007t0004g0315 a0003c0007t0004g0319	4	374	0.0107	15	c.186 others(30): Show c.186+380_186+381insCTTCTTCCTTCTTCC		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
EPHX3_chr19_15221919_15237448	15229885	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18612.hp2 NA18906.hp2 HG03834.hp1 NA18612.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0065 a0001c0001t0001g0102 a0001c0001t0001g0103	3	374	0.0080	15	c.616 others(32): Show c.616+1062_616+1076dupTTTTTTTTTTTTTTT		EPHX3	ENSG00000105131.8	transcript	ENST00000221730.8	protein_coding	4/6						chr19	TogoVar
EPN2_chr17_19232366_19341715	19276773	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02572.hp1 HG02622.hp1 others(3): Show HG00438.hp2 HG02572.hp1 HG02622.hp1 NA18953.hp2 NA18960.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0003g0267 others(3): Show a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0003g0267 a0001c0001t0003g0272 a0001c0001t0003g0276 a0001c0001t0003g0277	6	282	0.0213	15	c.-29 others(34): Show c.-293-5178_-293-5164dupTTTTTTTTTTTTTTT		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19276777	T T	TTTTTTTT others(8): Show TTTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02258.hp1 HG02647.hp1 others(9): Show HG01433.hp1 HG02258.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03710.hp1 HG06807.hp1 NA18946.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 others(9): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260	12	282	0.0426	15	c.-29 others(34): Show c.-293-5168_-293-5167insGTTTGTTTTTTTTTT		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19276777	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	282	0.0036	15	c.-29 others(34): Show c.-293-5177_-293-5163dupTTTTTTTTTTTTTTG		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(8): Show GTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp1 NA19070.hp1 HG01175.hp2 HG01257.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0093	3	282	0.0106	15	c.766 others(32): Show c.766+3938_766+3939insGTTTTTTTTTTTTTT		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00642.hp2 others(19): Show HG00558.hp1 HG00621.hp1 HG00642.hp2 HG01168.hp1 HG01993.hp2 HG02132.hp2 HG02165.hp2 HG02486.hp1 HG02559.hp2 HG02717.hp2 HG03688.hp2 HG03704.hp1 HG04199.hp1 NA18948.hp1 NA18954.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18983.hp1 NA19010.hp2 NA19060.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0150 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0004g0107 a0001c0001t0004g0109 a0001c0001t0018g0176 a0002c0002t0001g0135	22	282	0.0780	15	c.766 others(32): Show c.766+3940_766+3954dupTTTTTTTTTTTTTTT		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02145.hp2 others(8): Show HG01109.hp2 HG02109.hp2 HG02145.hp2 HG02572.hp2 HG02630.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0007g0096 a0001c0001t0011g0003	11	282	0.0390	15	c.114 others(34): Show c.1147+5274_1147+5288dupAAAAAAAAAAAAAAA		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN3_chr17_50527735_50548750	50528897	C C	CGGAGGTG others(8): Show CGGAGGTGGGGGCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	350	0.0029	15	c.-42 others(26): Show c.-4225_-4224insGGAGGTGGGGGCTGT		EPN3	ENSG00000049283.19	transcript	ENST00000268933.8	protein_coding					3837		chr17	TogoVar
EPN3_chr17_50527735_50548750	50530497	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017	a0001c0001 a0001c0004 a0002c0002 others(13): Show a0001c0001 a0001c0004 a0002c0002 a0002c0009 a0002c0017 a0002c0019 a0004c0005 a0008c0008 a0009c0021 a0010c0018 a0011c0024 a0012c0016 a0014c0013 a0015c0020 a0016c0015 a0017c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(22): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0004t0001 a0001c0004t0013 a0002c0002t0001 a0002c0002t0005 a0002c0002t0014 a0002c0002t0015 a0002c0009t0005 a0002c0017t0001 a0002c0019t0005 a0004c0005t0001 a0008c0008t0001 a0009c0021t0001 a0010c0018t0001 a0011c0024t0001 a0012c0016t0001 a0014c0013t0001 a0015c0020t0001 a0016c0015t0001 a0017c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(80): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0004g0006 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0043 a0001c0001t0004g0054 a0001c0001t0004g0064 a0001c0001t0004g0080 a0001c0001t0004g0084 a0001c0001t0004g0096 a0001c0001t0004g0108 a0001c0001t0007g0001 a0001c0001t0009g0001 a0001c0001t0011g0004 a0001c0001t0017g0004 a0001c0004t0001g0005 a0001c0004t0001g0046 a0001c0004t0001g0074 a0001c0004t0001g0077 a0001c0004t0013g0005 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0015 a0002c0002t0001g0021 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0072 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0100 a0002c0002t0001g0105 a0002c0002t0005g0002 a0002c0002t0005g0008 a0002c0002t0005g0022 a0002c0002t0005g0079 a0002c0002t0005g0087 a0002c0002t0005g0102 a0002c0002t0014g0002 a0002c0002t0014g0065 a0002c0002t0015g0002 a0002c0002t0015g0024 a0002c0009t0005g0031 a0002c0017t0001g0002 a0002c0019t0005g0002 a0004c0005t0001g0002 a0008c0008t0001g0002 a0009c0021t0001g0001 a0010c0018t0001g0099 a0011c0024t0001g0042 a0012c0016t0001g0033 a0014c0013t0001g0081 a0015c0020t0001g0085 a0016c0015t0001g0024 a0017c0011t0001g0104	238	350	0.6800	15	c.-26 others(26): Show c.-2625_-2624insAAAAAAAAAAAAAAA		EPN3	ENSG00000049283.19	transcript	ENST00000268933.8	protein_coding					2237		chr17	TogoVar
EPOR_chr19_11372207_11389314	11376540	T T	TTTAGTGG others(8): Show TTTAGTGGAGTGATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	15	c.14 others(26): Show c.1443_*1444insGCATCACTCCACTAA		EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding					666		chr19	TogoVar
EPOR_chr19_11372207_11389314	11384703	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02074.hp1 HG02280.hp1 others(3): Show HG00544.hp1 HG02074.hp1 HG02280.hp1 HG03139.hp1 NA18964.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0003 a0001c0001t0001g0010	6	404	0.0149	15	c.-49 others(24): Show c.-497_-496insAGAGAGAGAGAGAGA		EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding					390		chr19	TogoVar
EPPIN_chr20_45535626_45552401	45548607	C C	CCTCTTCT others(8): Show CCTCTTCTCTTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 NA19085.hp2 HG02080.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	2	438	0.0046	15	c.-12 others(26): Show c.-1251_-1250insAAGAGAAGAGAAGAG		EPPIN	ENSG00000101448.14	transcript	ENST00000354280.9	protein_coding					1207		chr20	TogoVar
EPS15L1_chr19_16350247_16476970	16475698	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01928.hp2 HG01943.hp2 others(7): Show HG01192.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG02273.hp1 HG02300.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021	10	276	0.0362	15	c.-37 others(26): Show c.-3754_-3753insAAAAAAAAAAAAAAA		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding					3729		chr19	TogoVar
EPS15_chr1_51349263_51524266	51357391	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0025 a0005c0011t0025	a0005c0011t0025g0140 a0005c0011t0025g0140	1	152	0.0066	15	c.254 others(32): Show c.2545-546_2545-545insATTTTTTTTTTTTTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	24/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51357391	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0010 a0002c0001t0010	a0002c0001t0010g0041 a0002c0001t0010g0041	1	152	0.0066	15	c.254 others(32): Show c.2545-546_2545-545insATATATATATTTTTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	24/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51391455	T T	TAATAAAA others(8): Show TAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19240.hp2 HG02630.hp1 NA19240.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0038 a0002c0001t0004g0039 a0002c0001t0004g0038 a0002c0001t0004g0039	2	152	0.0132	15	c.211 others(34): Show c.2119+2911_2119+2925dupTTATTTTATTTTATT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	21/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51400712	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0120 a0002c0001t0008g0121 a0002c0001t0008g0120 a0002c0001t0008g0121	2	152	0.0132	15	c.191 others(32): Show c.1918+191_1918+205dupTTTTTTTTTTTTTTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	19/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51503006	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0130 a0002c0001t0011g0130	1	152	0.0066	15	c.33+ others(32): Show c.33+16178_33+16192dupTTTTTTTTTTTTTTT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51508186	G G	GAGAAAAG others(8): Show GAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG03041.hp2 others(3): Show HG00741.hp2 HG01175.hp1 HG03041.hp2 NA18747.hp2 NA18957.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 a0002c0001t0024	a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0113 others(3): Show a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0113 a0001c0002t0003g0049 a0001c0002t0013g0062 a0002c0001t0024g0145	6	152	0.0395	15	c.33+ others(32): Show c.33+10998_33+11012dupTTTCTTTTCTTTTCT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51508231	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0135 a0002c0001t0007g0135	1	152	0.0066	15	c.33+ others(32): Show c.33+10967_33+10968insCTCTCTCTCTCTCTC		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24						chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42938914	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02615.hp2 HG02040.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0050 a0001c0001t0014 a0001c0001t0050	a0001c0001t0014g0344 a0001c0001t0050g0348 a0001c0001t0014g0344 a0001c0001t0050g0348	2	352	0.0057	15	c.564 others(34): Show c.564-12500_564-12486dupTTTTTTTTTTTTTTT		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10						chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42965707	C C	CTCTCCCT others(8): Show CTCTCCCTCTCCCTCG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0269 a0001c0002t0003g0269	1	352	0.0028	15	c.332 others(32): Show c.332-1569_332-1568insCGAGGGAGAGGGAGA		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10						chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42965713	C C	CTCTCCCT others(8): Show CTCTCCCTCTCCCTCG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01192.hp1 HG01516.hp1 others(5): Show HG01069.hp1 HG01192.hp1 HG01516.hp1 HG01952.hp1 HG01978.hp1 HG02293.hp1 HG03834.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0017 a0001c0001t0020 others(2): Show a0001c0001t0004 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0002t0011	a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0017g0159 others(5): Show a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0017g0159 a0001c0001t0017g0174 a0001c0001t0020g0154 a0001c0001t0024g0339 a0001c0002t0011g0147 a0001c0002t0011g0156	8	352	0.0227	15	c.332 others(32): Show c.332-1575_332-1574insCGAGGGAGAGGGAGA		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10						chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42968954	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01074.hp2 others(24): Show HG00280.hp2 HG00735.hp2 HG01074.hp2 HG01175.hp1 HG01255.hp2 HG01433.hp1 HG01516.hp2 HG01891.hp1 HG01978.hp2 HG02004.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02486.hp1 HG02698.hp1 HG03017.hp1 HG03209.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG04184.hp2 NA18941.hp1 NA18946.hp2 NA18994.hp1 NA19010.hp1 NA19062.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0013 a0001c0001t0015 others(15): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0026 a0001c0001t0033 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0023 a0001c0002t0027 a0001c0003t0003	a0001c0001t0004g0167 a0001c0001t0013g0118 a0001c0001t0015g0194 others(24): Show a0001c0001t0004g0167 a0001c0001t0013g0118 a0001c0001t0015g0194 a0001c0001t0015g0226 a0001c0001t0017g0120 a0001c0001t0017g0166 a0001c0001t0026g0116 a0001c0001t0033g0101 a0001c0002t0001g0032 a0001c0002t0001g0111 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0122 a0001c0002t0003g0190 a0001c0002t0003g0289 a0001c0002t0005g0102 a0001c0002t0005g0128 a0001c0002t0006g0257 a0001c0002t0007g0225 a0001c0002t0008g0177 a0001c0002t0009g0119 a0001c0002t0009g0121 a0001c0002t0010g0193 a0001c0002t0011g0031 a0001c0002t0023g0100 a0001c0002t0027g0137 a0001c0003t0003g0189	27	352	0.0767	15	c.331 others(30): Show c.331+139_331+140insGTGTGTGTGTGTGTG		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10						chr13	TogoVar
ERAP2_chr5_96871500_96924703	96874136	G G	GAGAAGAA others(8): Show GAGAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0100 a0002c0002t0002g0100	1	398	0.0025	15	c.-25 others(26): Show c.-2514_-2513insAGAAGAAAGAAAGAA		ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding					2363		chr5	TogoVar
ERBB3_chr12_56075165_56108505	56091299	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0041 a0002c0003t0003g0041	1	392	0.0026	15	c.111 others(34): Show c.1110-1447_1110-1446insTATATATATATATAA		ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	9/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERBB3_chr12_56075165_56108505	56091300	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0001 a0002c0003t0003	a0002c0003t0001g0024 a0002c0003t0003g0024 a0002c0003t0001g0024 a0002c0003t0003g0024	2	392	0.0051	15	c.111 others(34): Show c.1110-1447_1110-1446insTATATATATATATAT		ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	9/27						chr12	TogoVar

Search by Variant

Search

Search Results