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
EIPR1_chr2_3183970_3382818	3331423	GAGCAGAG others(31): Show GAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTGTC	G G	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	90	0.0111	-38	c.259 others(55): Show c.259+6556_259+6593delGACACCATCTCATGAGTGTATACACACC TGCCTCTGCT		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331613	GAGCAGAG others(31): Show GAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp1 HG01884.hp2 others(13): Show HG01123.hp2 HG01884.hp1 HG01884.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG03195.hp2 HG03540.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0014 a0001c0001t0001g0229 a0001c0001t0001g0231 others(13): Show a0001c0001t0001g0014 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0003g0234 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0002g0181	16	88	0.1818	-38	c.259 others(55): Show c.259+6366_259+6403delGACACCATCTCATGAGTGTATACACACC TGCCTCTGCT		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331727	CAGCAGAG others(31): Show CAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02896.hp1 HG02109.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0004g0008 a0001c0001t0001g0009 a0001c0001t0004g0008	2	247	0.0081	-38	c.259 others(55): Show c.259+6252_259+6289delCACACCATCTCATGAGTGTATACACACC TGCCTCTGCT		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3331879	GAGCAGAG others(31): Show GAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	92	0.0109	-38	c.259 others(55): Show c.259+6100_259+6137delGACACCATCTCATGAGTGTATACACACC TGCCTCTGCT		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0300 a0005c0007t0004g0300	1	2	0.5000	-38	c.-15 others(57): Show c.-15-17768_-15-17731delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6						chr9	TogoVar
ELK4_chr1_205602943_205637011	205623968	TAAGTGCT others(31): Show TAAGTGCTCTAAATGTATTAATTCATCCCCACATTTCTA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0050 a0001c0001t0036g0050	1	422	0.0024	-38	c.-9- others(50): Show c.-9-115_-9-78delTAGAAATGTGGGGATGAATTAATACATTTAGAG CACTT		ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding	1/4						chr1	TogoVar
ELL2_chr5_95880098_95966851	95927401	ACACACAC others(31): Show ACACACACGTGTGTATATAGACATACACACACACGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp1 HG02922.hp2 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0130 a0002c0002t0001g0116 a0002c0002t0001g0130	2	299	0.0067	-38	c.196 others(55): Show c.196-7894_196-7857delCACACGTGTGTGTGTATGTCTATATACA CACGTGTGTG		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11						chr5	TogoVar
ELL2_chr5_95880098_95966851	95950904	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	166	0.0060	-38	c.148 others(55): Show c.148-7893_148-7856delTATATATATATATATATATATATATATA TATATATATA		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11						chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60802087	TATATATA others(31): Show TATATATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG01175.hp2 others(7): Show HG00639.hp1 HG01167.hp2 HG01175.hp2 HG01257.hp1 HG02735.hp1 HG03098.hp2 NA18950.hp2 NA18951.hp1 NA18983.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0023 a0001c0001t0001 a0001c0001t0006 a0001c0001t0023	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0121 others(7): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0121 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0006g0143 a0001c0001t0006g0163 a0001c0001t0023g0162	10	256	0.0391	-38	c.-85 others(55): Show c.-85-2895_-85-2858delGTGTGTGTATATATATATATATATATAT ATATATATAT		ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8						chr5	TogoVar
ELP3_chr8_28088139_28196153	28119572	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA20129.hp2 HG02615.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0337 a0001c0001t0001g0338	2	11	0.1818	-38	c.617 others(55): Show c.617+6419_617+6456delATATATATATATATATATATATATATAT ATATATATAT		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
ENOSF1_chr18_665318_717630	667428	GGAGATGG others(31): Show GGAGATGGTGATGGTGATGGTGATGGTGATGATGGAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19066.hp1 NA19057.hp1 NA19066.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0344 a0003c0007t0003g0373 a0003c0007t0003g0344 a0003c0007t0003g0373	2	413	0.0048	-38	c.68 others(49): Show c.6839_*6876delATCTCCATCATCACCATCACCATCACCATCACCA TCTC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2889		chr18	TogoVar
ENOSF1_chr18_665318_717630	667440	GGTGATGG others(31): Show GGTGATGGTGATGGTGATGATGGAGATGGTGATGGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0155 a0001c0001t0006g0155	1	409	0.0024	-38	c.68 others(49): Show c.6827_*6864delATCACCATCACCATCTCCATCATCACCATCACCA TCAC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2877		chr18	TogoVar
ENPP1_chr6_131803020_131900155	131811356	ATATATCT others(31): Show ATATATCTATATCTATATCTATATATCTATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02965.hp1 HG01891.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0016 a0002c0002t0013 a0002c0002t0016	a0002c0002t0013g0212 a0002c0002t0016g0213 a0002c0002t0013g0212 a0002c0002t0016g0213	2	288	0.0069	-38	c.240 others(55): Show c.240+3105_240+3142delATCTATATCTATATCTATATCTATATCT ATATCTATAT		ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENTREP2_chr15_29115252_29575979	29219610	CATAAATA others(31): Show CATAAATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19240.hp2 HG02280.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0002c0004 a0001c0011 a0002c0004	a0001c0011t0010 a0002c0004t0037 a0001c0011t0010 a0002c0004t0037	a0001c0011t0010g0053 a0002c0004t0037g0066 a0001c0011t0010g0053 a0002c0004t0037g0066	2	96	0.0208	-38	c.388 others(57): Show c.388-23084_388-23047delATATATATATATATATATATATATAT ATATATATTTAT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	3/10						chr15	TogoVar
EP300_chr22_41087592_41185077	41167572	GTGTGTGT others(31): Show GTGTGTGTGTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00558.hp1 others(53): Show HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01081.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01516.hp1 HG01952.hp2 HG01993.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02293.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02896.hp2 HG02897.hp1 HG03239.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18953.hp1 NA18960.hp2 NA18968.hp2 NA18971.hp1 NA18980.hp2 NA18986.hp1 NA18988.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19003.hp2 NA19007.hp2 NA19010.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp1 NA19079.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA20905.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0011c0017	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(19): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0021 a0001c0002t0023 a0001c0002t0025 a0001c0002t0026 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0016t0011 a0011c0017t0003	a0001c0001t0001g0252 a0001c0002t0001g0056 a0001c0002t0001g0057 others(53): Show a0001c0001t0001g0252 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0087 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0115 a0001c0002t0002g0103 a0001c0002t0003g0055 a0001c0002t0003g0063 a0001c0002t0003g0085 a0001c0002t0003g0119 a0001c0002t0003g0122 a0001c0002t0003g0125 a0001c0002t0005g0051 a0001c0002t0005g0065 a0001c0002t0005g0074 a0001c0002t0005g0079 a0001c0002t0005g0091 a0001c0002t0005g0093 a0001c0002t0005g0094 a0001c0002t0005g0105 a0001c0002t0005g0121 a0001c0002t0005g0126 a0001c0002t0007g0072 a0001c0002t0007g0080 a0001c0002t0008g0061 a0001c0002t0008g0066 a0001c0002t0008g0095 a0001c0002t0011g0069 a0001c0002t0011g0086 a0001c0002t0011g0098 a0001c0002t0012g0068 a0001c0002t0012g0077 a0001c0002t0012g0129 a0001c0002t0012g0130 a0001c0002t0015g0054 a0001c0002t0015g0099 a0001c0002t0015g0117 a0001c0002t0016g0076 a0001c0002t0016g0114 a0001c0002t0017g0090 a0001c0002t0017g0100 a0001c0002t0018g0059 a0001c0002t0018g0089 a0001c0002t0021g0118 a0001c0002t0023g0058 a0001c0002t0025g0078 a0001c0002t0026g0073 a0001c0002t0029g0083 a0001c0002t0030g0064 a0001c0002t0031g0081 a0001c0016t0011g0096 a0011c0017t0003g0067	56	273	0.2051	-38	c.387 others(55): Show c.3875-875_3875-838delGTGTGTGTGTGTATATATATATATATAT ATATATATAT		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167576	GTGTGTGT others(31): Show GTGTGTGTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03098.hp2 HG02717.hp1 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0109 a0001c0005t0006g0111 a0001c0005t0006g0109 a0001c0005t0006g0111	2	291	0.0069	-38	c.387 others(55): Show c.3875-871_3875-834delGTGTGTGTATATATATATATATATATAT ATATATATAT		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167578	GTGTGTGT others(31): Show GTGTGTGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0116 a0001c0002t0016g0116	1	287	0.0035	-38	c.387 others(55): Show c.3875-869_3875-832delGTGTGTATATATATATATATATATATAT ATATATATAT		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167584	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	185	0.0054	-38	c.387 others(55): Show c.3875-850_3875-813delTATATATATATATATATATATATATATA TATATATATA		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
EPHA2_chr1_16119337_16161069	16136654	AGAAGAAG others(31): Show AGAAGAAGAAAAGAAGAAAAGAAGAAGAAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01934.hp1 HG01952.hp2 others(4): Show HG01256.hp2 HG01934.hp1 HG01952.hp2 HG02630.hp1 HG03139.hp2 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0015 a0001c0003 a0001c0004 a0001c0015	a0001c0003t0001 a0001c0004t0001 a0001c0015t0001 a0001c0003t0001 a0001c0004t0001 a0001c0015t0001	a0001c0003t0001g0007 a0001c0003t0001g0167 a0001c0003t0001g0177 others(4): Show a0001c0003t0001g0007 a0001c0003t0001g0167 a0001c0003t0001g0177 a0001c0004t0001g0021 a0001c0004t0001g0046 a0001c0004t0001g0154 a0001c0015t0001g0182	7	310	0.0226	-38	c.131 others(55): Show c.1313-922_1313-885delCTCTTCTTCTTTCTTCTTCTTTTCTTCT TTTCTTCTTC		EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16						chr1	TogoVar
EPHA2_chr1_16119337_16161069	16136692	GGAAGAAG others(31): Show GGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	276	0.0036	-38	c.131 others(55): Show c.1313-960_1313-923delTTCTTCTTCTTCTTCTTTTCTTCTTCTT CTTCTTCTTC		EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	5/16						chr1	TogoVar
EPHA5_chr4_65314567_65675489	65348678	ATATATAT others(31): Show ATATATATATATATATATATAAAATATATATGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0207 a0001c0001t0015g0207	1	232	0.0043	-38	c.244 others(55): Show c.2446-513_2446-476delACACACACATATATATTTTATATATATA TATATATATA		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	13/16						chr4	TogoVar
EPHA6_chr3_96809594_97766532	97327945	GTATATGT others(31): Show GTATATGTATCTGTGTGTATATATATGTATATGTGCATA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA20129.hp2 HG01934.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0003 a0001c0001t0006 a0001c0004t0003	a0001c0001t0006g0023 a0001c0004t0003g0040 a0001c0001t0006g0023 a0001c0004t0003g0040	2	82	0.0244	-38	c.160 others(59): Show c.1607-77195_1607-77158delCTGTGTGTATATATATGTATATGT GCATATATATGTAT		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97327993	ATGTGTAT others(31): Show ATGTGTATGTATATGTATATGTGTATATATGTATATGTG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0011 a0001c0003t0011g0011	1	81	0.0123	-38	c.160 others(59): Show c.1607-77155_1607-77118delGTGTATGTATATGTATATGTGTAT ATATGTATATGTGT		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135183016	TTTTCTTT others(31): Show TTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp2 HG02809.hp1 others(4): Show HG02486.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG03098.hp2 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0012 a0001c0004t0002 others(1): Show a0001c0001t0002 a0001c0001t0012 a0001c0004t0002 a0001c0004t0003	a0001c0001t0002g0002 a0001c0001t0002g0084 a0001c0001t0002g0120 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0084 a0001c0001t0002g0120 a0001c0001t0012g0081 a0001c0004t0002g0093 a0001c0004t0002g0131 a0001c0004t0003g0104	7	124	0.0565	-38	c.188 others(57): Show c.1882+3042_1882+3079delTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
EPS8L1_chr19_55070869_55092923	55078513	TGGGGGGC others(31): Show TGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	337	0.0030	-38	c.58+ others(51): Show c.58+391_58+428delGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCT GGGGGG		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
EPS8L2_chr11_701231_732727	722949	AGCCCCGA others(31): Show AGCCCCGACACCCACCCCTCCCCAGAGCTCCCCTCCCCG	A A	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	394	0.0025	-38	c.134 others(55): Show c.1341+182_1342-217delGGCCCCGACACCCACCCCTCCCCAGAGC TCCCCTCCCC		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	14/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
EQTN_chr9_27279654_27302150	27301183	AATGTAGA others(31): Show AATGTAGATGTTCTATAACACAATCTAGTATAAATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	444	0.0023	-38	c.-41 others(49): Show c.-4166_-4129delAAAAATTTATACTAGATTGTGTTATAGAACATCT ACAT		EQTN	ENSG00000120160.11	transcript	ENST00000380032.8	protein_coding					4034		chr9	TogoVar
ERAP1_chr5_96769484_96812945	96808183	GATCCGTG others(31): Show GATCCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0006 a0009c0009t0006	a0009c0009t0006g0016 a0009c0009t0006g0016	1	414	0.0024	-38	c.-37 others(47): Show c.-379_-342delACACACACACACACACACACACACACACACACACGG AT		ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding					239		chr5	TogoVar
ERBB4_chr2_211370717_212543802	211622986	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0019 a0001c0002t0016g0019	1	55	0.0182	-38	c.220 others(55): Show c.2202+898_2202+935delATATATATATATATATATATATATATAT ATATATTTTT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	18/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211622990	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19030.hp1 HG02145.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0001 a0001c0001t0011 a0001c0002t0001	a0001c0001t0011g0042 a0001c0002t0001g0020 a0001c0001t0011g0042 a0001c0002t0001g0020	2	44	0.0455	-38	c.220 others(55): Show c.2202+894_2202+931delATATATATATATATATATATATATATAT ATATATATAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	18/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015041	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp2 HG03579.hp1 HG02145.hp2 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0017 a0001c0001t0029 a0001c0004t0021 a0001c0001t0017 a0001c0001t0029 a0001c0004t0021	a0001c0001t0017g0029 a0001c0001t0029g0054 a0001c0004t0021g0009 a0001c0001t0017g0029 a0001c0001t0029g0054 a0001c0004t0021g0009	3	36	0.0833	-38	c.235 others(57): Show c.235-67463_235-67426delATATATATATATATATATATATATAT ATATATATATAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212446577	CCATATAT others(31): Show CCATATATATATATGTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	53	0.0189	-38	c.82+ others(55): Show c.82+91834_82+91871delTATATATATATATATATATATATACATA TATATATATG		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212446578	CATATATA others(31): Show CATATATATATATGTATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	18	0.0556	-38	c.82+ others(55): Show c.82+91833_82+91870delATATATATATATATATATATATATACAT ATATATATAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBIN_chr5_65921575_66087546	66065591	CTGTGTGT others(31): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02886.hp1 others(3): Show HG02055.hp2 HG02109.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 NA20129.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0160 a0001c0007t0010g0161 a0001c0007t0010g0162 others(3): Show a0001c0007t0010g0160 a0001c0007t0010g0161 a0001c0007t0010g0162 a0001c0007t0010g0163 a0001c0007t0010g0164 a0001c0007t0010g0275	6	24	0.2500	-38	c.363 others(57): Show c.3634-6546_3634-6509delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	21/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1090896	ATTATTAT others(31): Show ATTATTATTATTATTATCATTTGTGACAGAGCTTTGCTC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0082 a0002c0002t0036g0082	1	159	0.0063	-38	c.108 others(57): Show c.1086+7318_1086+7355delTATTATTATTATTATCATTTGTGACA GAGCTTTGCTCT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121901	ATCTCTAT others(31): Show ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02970.hp2 HG03654.hp2 others(1): Show HG00544.hp1 HG02970.hp2 HG03654.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0077 a0002c0002t0046 others(1): Show a0001c0001t0004 a0001c0001t0077 a0002c0002t0046 a0002c0002t0083	a0001c0001t0004g0015 a0001c0001t0077g0049 a0002c0002t0046g0069 others(1): Show a0001c0001t0004g0015 a0001c0001t0077g0049 a0002c0002t0046g0069 a0002c0002t0083g0093	4	146	0.0274	-38	c.156 others(57): Show c.1569+5870_1569+5907delCTCTATCTCTATCTCTATCTCTATCT GTGTCTCTATCT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1180275	GTGTGTGT others(31): Show GTGTGTGTGCGCGCACGCGTGTGCGCGCGCGCATACACA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0083 a0001c0001t0048g0083	1	160	0.0063	-38	c.173 others(55): Show c.1738-259_1738-222delGTGCGCGCACGCGTGTGCGCGCGCGCAT ACACATGTGT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196905	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19043.hp2 HG02970.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0083 a0002c0002t0046 a0002c0002t0083	a0002c0002t0046g0069 a0002c0002t0083g0093 a0002c0002t0046g0069 a0002c0002t0083g0093	2	35	0.0571	-38	c.235 others(57): Show c.2351+6873_2351+6910delCACACACACACACACACACACACACA CACACACACACA		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418565	TTTTCTTT others(31): Show TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0057 a0002c0002t0057	a0002c0002t0057g0127 a0002c0002t0057g0127	1	149	0.0067	-38	c.302 others(59): Show c.3024+10344_3024+10381delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1440600	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG06807.hp2 HG03130.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0023 a0002c0002t0001 a0002c0002t0023	a0002c0002t0001g0046 a0002c0002t0023g0058 a0002c0002t0001g0046 a0002c0002t0023g0058	2	22	0.0909	-38	c.302 others(57): Show c.3025-3931_3025-3894delTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTG		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55952166	CACACACA others(31): Show CACACACACACACACTCTCTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG03041.hp1 HG01167.hp2 HG01169.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0033 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0001g0033 a0001c0001t0006g0026 a0001c0001t0006g0027	3	63	0.0476	-38	c.226 others(57): Show c.2268-1644_2268-1607delTATATAGAGAGAGAGAGAGAGAGAGT GTGTGTGTGTGT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	12/17						chr3	TogoVar
ERCC1_chr19_45402334_45428917	45419894	ACCCAGGA others(31): Show ACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTGAGAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01891.hp1 HG03579.hp2 others(1): Show HG00733.hp1 HG01891.hp1 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0001t0003 a0001c0001t0006 a0001c0001t0023	a0001c0001t0003g0163 a0001c0001t0006g0164 a0001c0001t0006g0187 others(1): Show a0001c0001t0003g0163 a0001c0001t0006g0164 a0001c0001t0006g0187 a0001c0001t0023g0110	4	418	0.0096	-38	c.425 others(53): Show c.425+392_425+429delGTCTCAGGGAGGAGGGGCTGGGGGCCTGGA CTCCTGGG		ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	4/9						chr19	TogoVar
ERCC6_chr10_49449470_49544121	49526107	TTATATAT others(31): Show TTATATATTTTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0021 a0021	a0021c0032 a0021c0032	a0021c0032t0016 a0021c0032t0016	a0021c0032t0016g0146 a0021c0032t0016g0146	1	361	0.0028	-38	c.653 others(55): Show c.653-1368_653-1331delTATATATATATATATATATATATATATA AAAATATATA		ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20						chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526107	TTATATAT others(31): Show TTATATATTTTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	374	0.0027	-38	c.653 others(55): Show c.653-1368_653-1331delTATATATATATATATATATATATATATA AAAATATATA		ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5						chr10	TogoVar
ERI2_chr16_20791340_20811472	20798933	AGGATTTA others(31): Show AGGATTTATTATATTTTTAGGCTCCTTATTATATATGCT	A A	frameshift_variant frameshift_variant	HIGH	HG00738.hp1 HG00738.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0058 a0009c0017t0001g0058	1	410	0.0024	-38	c.829 others(45): Show c.829_866delAGCATATATAATAAGGAGCCTAAAAATATAATAAATCC	p.Ile others(5): Show p.Ile278fs	ERI2	ENSG00000196678.14	transcript	ENST00000357967.9	protein_coding	9/9	908/3502	829/2076	277/691			chr16	TogoVar
ERI3_chr1_44216070_44360257	44342829	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	335	0.0030	-38	c.212 others(55): Show c.212-3545_212-3508delAAAAAAAAAATATATATATATATATATA TATATATATA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERICH1_chr8_659200_736224	665686	AGAGTACG others(31): Show AGAGTACGTGTAATAAAACGTCACAGAAGCGGGAGAGCT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	376	0.0027	-38	c.125 others(57): Show c.1259-1048_1259-1011delAGCTCTCCCGCTTCTGTGACGTTTTA TTACACGTACTC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	5/5						chr8	TogoVar
ERICH1_chr8_659200_736224	669209	AGACGCCT others(31): Show AGACGCCTCCCCTGGCCCGTCTACACGTCTGTCTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG02886.hp1 others(2): Show HG02055.hp1 HG02630.hp1 HG02886.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0252 others(2): Show a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0252 a0001c0003t0001g0217 a0001c0003t0001g0223	5	316	0.0158	-38	c.106 others(55): Show c.1064-455_1064-418delCCACCAGACAGACGTGTAGACGGGCCAG GGGAGGCGTC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5						chr8	TogoVar
ERICH1_chr8_659200_736224	669247	GGACGCCT others(31): Show GGACGCCTCCCCTGGCCCGTCTACACGTCTGTCTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01981.hp1 HG02257.hp2 others(8): Show HG01099.hp1 HG01981.hp1 HG02257.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02976.hp2 HG03490.hp1 HG03579.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0013 others(1): Show a0001c0001 a0001c0003 a0001c0013 a0002c0005	a0001c0001t0001 a0001c0003t0001 a0001c0013t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0013t0001 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0101 a0001c0001t0001g0202 a0001c0003t0001g0121 others(8): Show a0001c0001t0001g0101 a0001c0001t0001g0202 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0013t0001g0209 a0002c0005t0001g0234 a0002c0005t0002g0285	11	376	0.0293	-38	c.106 others(55): Show c.1064-493_1064-456delTCACCAGACAGACGTGTAGACGGGCCAG GGGAGGCGTC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5						chr8	TogoVar
ERICH1_chr8_659200_736224	669361	AGACGCCT others(31): Show AGACGCCTCCCCTGGCCCGTCTACACGTCTGTCTGGTGG	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp1 HG02280.hp2 HG03098.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0235 a0002c0005t0001g0236 a0002c0005t0001g0235 a0002c0005t0001g0236	2	110	0.0182	-38	c.106 others(55): Show c.1064-606_1064-569delCACCAGACAGACGTGTAGACGGGCCAGG GGAGGCGTCT		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5						chr8	TogoVar

Search by Variant

Search

Search Results