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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EPHA6_chr3_96809594_97766532	97085927	T T	TTGTATAT others(23): Show TTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0032 a0001c0002t0026g0032	1	82	0.0122	30	c.111 others(51): Show c.1114+97934_1114+97935insTGTATATATATATATATATATATA TATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17			chr3	TogoVar
EPHA6_chr3_96809594_97766532	97085928	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0014 a0001c0009t0007g0014	1	82	0.0122	30	c.111 others(51): Show c.1114+97956_1114+97957insTATATATATATATATATATATATA TATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97085948	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	82	0.0122	30	c.111 others(51): Show c.1114+97956_1114+97957insTATATATATATATATATATATATA TATACA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97085951	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG03225.hp2 others(1): Show HG02055.hp1 HG02258.hp1 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0005t0004 a0001c0006t0021 others(1): Show a0001c0001t0001 a0001c0005t0004 a0001c0006t0021 a0001c0010t0022	a0001c0001t0001g0024 a0001c0005t0004g0046 a0001c0006t0021g0049 others(1): Show a0001c0001t0001g0024 a0001c0005t0004g0046 a0001c0006t0021g0049 a0001c0010t0022g0050	4	82	0.0488	30	c.111 others(51): Show c.1114+97958_1114+97959insTATATATATATATATATATATATA TATATG	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17			chr3	TogoVar
EPHB1_chr3_134790260_135265467	134882765	C C	CCTTTCTT others(23): Show CCTTTCTTTCTTTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0049 a0001c0003t0001g0049	1	134	0.0075	30	c.59- others(47): Show c.59-43039_59-43038insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHX4_chr1_92024985_92068538	92030483	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	236	0.0042	30	c.231 others(45): Show c.231+176_231+177insTGTGTGTGTGTGTGTGTGTGTGTGTGAGTG	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX4_chr1_92024985_92068538	92030490	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	236	0.0042	30	c.231 others(45): Show c.231+180_231+181insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6			chr1	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(23): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	282	0.0036	30	c.766 others(47): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02818.hp2 HG01109.hp2 HG01891.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0316 a0001c0001t0002g0348 a0001c0001t0002g0011 a0001c0001t0002g0316 a0001c0001t0002g0348	3	358	0.0084	30	c.432 others(47): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT AT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPS15_chr1_51349263_51524266	51426848	T T	TATATATA others(23): Show TATATATATACACACACATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0012 a0002c0001t0012	a0002c0001t0012g0002 a0002c0001t0012g0002	1	152	0.0066	30	c.104 others(49): Show c.1041-4991_1041-4990insGTGTATATATATATGTGTGTGTATAT ATAT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	12/24			chr1	TogoVar
EPS8L1_chr19_55070869_55092923	55090955	T T	TTATCTCG others(23): Show TTATCTCGAAAATACCTTCTCCCCCTGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0143 a0004c0004t0001g0143	1	340	0.0029	30	c.33 others(41): Show c.3341_*3342insTATCTCGAAAATACCTTCTCCCCCTGCCCC	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding		3033		chr19	TogoVar
EPSTI1_chr13_42881388_42997241	42965679	G G	GTCCCTCT others(23): Show GTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04115.hp1 HG04204.hp2 others(2): Show HG03654.hp1 HG04115.hp1 HG04204.hp2 NA18942.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0010 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0011	a0001c0001t0002g0217 a0001c0001t0002g0316 a0001c0002t0003g0228 others(2): Show a0001c0001t0002g0217 a0001c0001t0002g0316 a0001c0002t0003g0228 a0001c0002t0010g0227 a0001c0002t0011g0024	5	352	0.0142	30	c.332 others(47): Show c.332-1570_332-1541dupGAGGGAGAGGGAGAGGGAGAGGGAGAGG GA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
ERAP1_chr5_96769484_96812945	96808187	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0009 a0009c0009t0009	a0009c0009t0009g0156 a0009c0009t0009g0156	1	416	0.0024	30	c.-34 others(39): Show c.-346_-345insACACACACACACACACACACACACACACAC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		243		chr5	TogoVar
ERBB4_chr2_211370717_212543802	211772828	T T	TATACACA others(23): Show TATACACATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0051 a0001c0001t0025g0051	1	56	0.0179	30	c.556 others(49): Show c.556+15196_556+15197insGTGTGTGTATATATATATATATATGT GTAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211773615	T T	TATATATA others(23): Show TATATATATATAATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0019 a0001c0002t0016g0019	1	56	0.0179	30	c.556 others(49): Show c.556+14409_556+14410insTATATATATATATATATATTATATAT ATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212206589	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19240.hp2 HG03834.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0016 a0001c0001t0004g0008 a0001c0001t0002g0016 a0001c0001t0004g0008	2	56	0.0357	30	c.83- others(47): Show c.83-81687_83-81686insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212331071	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0022 a0001c0001t0010g0022	1	56	0.0179	30	c.83- others(49): Show c.83-206169_83-206168insGTGTATATATATATATATATATATAT ATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212345265	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	56	0.0179	30	c.82+ others(49): Show c.82+193183_82+193184insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212425335	A A	AGGATACA others(23): Show AGGATACATATATATGAACATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp1 HG02615.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0024 a0001c0001t0004g0003 a0001c0001t0002g0024 a0001c0001t0004g0003	2	56	0.0357	30	c.82+ others(49): Show c.82+113113_82+113114insATACACATATATGTTCATATATATGT ATCC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212425337	G G	GATACATA others(23): Show GATACATATATATGAACATATATGTATATGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02258.hp1 HG02809.hp2 others(7): Show HG01496.hp1 HG02258.hp1 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 a0001c0002t0001	a0001c0001t0002g0047 a0001c0001t0003g0040 a0001c0001t0003g0050 others(7): Show a0001c0001t0002g0047 a0001c0001t0003g0040 a0001c0001t0003g0050 a0001c0001t0004g0011 a0001c0001t0006g0039 a0001c0001t0008g0004 a0001c0001t0011g0041 a0001c0001t0011g0042 a0001c0001t0019g0002 a0001c0002t0001g0048	10	56	0.1786	30	c.82+ others(49): Show c.82+113082_82+113111dupACATATACATATATGTTCATATATAT GTAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212510205	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0023 a0001c0001t0009g0023	1	56	0.0179	30	c.82+ others(47): Show c.82+28243_82+28244insTATATATATATATATATATATATATATA TA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212511820	A A	AAGTCTAG others(23): Show AAGTCTAGAGATAAGAGATATTGCAGGGTTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03579.hp1 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0017 a0001c0001t0012 a0001c0001t0017	a0001c0001t0012g0001 a0001c0001t0017g0029 a0001c0001t0012g0001 a0001c0001t0017g0029	2	56	0.0357	30	c.82+ others(47): Show c.82+26628_82+26629insCAACCCTGCAATATCTCTTATCTCTAGA CT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	65977958	G G	GGGGAGAG others(23): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0016 a0005c0006t0016	a0005c0006t0016g0299 a0005c0006t0016g0299	1	306	0.0033	30	c.-57 others(49): Show c.-57-10648_-57-10647insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAG	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1093942	A A	AATATATA others(23): Show AATATATATATTTTTCTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0133 a0002c0002t0005g0133	1	162	0.0062	30	c.108 others(51): Show c.1086+10373_1086+10402dupTTTTCTATATATATATATATATAT ATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1093951	A A	ATTTTTCT others(23): Show ATTTTTCTATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0157 a0001c0001t0049g0157	1	162	0.0062	30	c.108 others(51): Show c.1086+10400_1086+10401insTTTTTTCTATATATATATATATAT ATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1093957	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0017 a0001c0001t0111g0017	1	162	0.0062	30	c.108 others(51): Show c.1086+10405_1086+10406insTATATATATATATATATATATATA TATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1093981	A A	ATTTTTCT others(23): Show ATTTTTCTATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0150 a0001c0001t0040g0150	1	162	0.0062	30	c.108 others(51): Show c.1086+10402_1086+10403insTTTTCTATATATATATATATATAT ATATTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121937	A A	ATCTCTAT others(23): Show ATCTCTATCTCTATCTATCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0022 a0001c0001t0012g0022	1	162	0.0062	30	c.156 others(49): Show c.1569+5907_1569+5908insCTATCTCTATCTATCTCTATCTCTAT CTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122133	A A	ATCTCTAT others(23): Show ATCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0046 a0001c0001t0087g0046	1	162	0.0062	30	c.156 others(49): Show c.1569+6127_1569+6128insGTGTCTCTATCTCTATCTCTATCTCT ATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122175	A A	ATCTCTAT others(23): Show ATCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp2 HG02896.hp1 others(1): Show HG02055.hp2 HG02886.hp2 HG02896.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 others(1): Show a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091	4	162	0.0247	30	c.156 others(49): Show c.1569+6170_1569+6199dupGTGTCTCTATCTCTATCTCTATCTCT ATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122307	G G	GTCTCTAT others(23): Show GTCTCTATCTCTATCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0126	a0001c0001t0126g0030 a0001c0001t0126g0030	1	162	0.0062	30	c.156 others(49): Show c.1569+6278_1569+6307dupCTATCTCTATCTCTATCTCTATCTCT ATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1154213	G G	GTATGTAT others(23): Show GTATGTATATGTATATGTATATGTATATGTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp1 HG02735.hp1 others(1): Show HG00738.hp2 HG01346.hp1 HG02735.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0040 a0001c0001t0068 others(1): Show a0001c0001t0014 a0001c0001t0040 a0001c0001t0068 a0001c0001t0112	a0001c0001t0014g0036 a0001c0001t0040g0150 a0001c0001t0068g0083 others(1): Show a0001c0001t0014g0036 a0001c0001t0040g0150 a0001c0001t0068g0083 a0001c0001t0112g0052	4	162	0.0247	30	c.173 others(51): Show c.1737+12444_1737+12473dupATATGTATATGTATATGTATATGT ATATGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196838	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02155.hp2 HG01109.hp2 HG02155.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0030 a0002c0002t0026 a0001c0001t0030 a0002c0002t0026	a0001c0001t0030g0109 a0002c0002t0026g0115 a0001c0001t0030g0109 a0002c0002t0026g0115	2	162	0.0124	30	c.235 others(49): Show c.2351+6791_2351+6792insCTCTCTCTCTCTCTCTCTCTGTCTGT CTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1438954	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0128 a0002c0002t0128	a0002c0002t0128g0054 a0002c0002t0128g0054	1	162	0.0062	30	c.302 others(49): Show c.3025-5607_3025-5606insAAAAAAAATATATATATATATATATA TATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493546	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0113 a0001c0001t0020g0113	1	162	0.0062	30	c.33 others(41): Show c.3317_*3318insTATATATATATATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3318	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	56126807	G G	GAAGGAAA others(23): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02809.hp1 HG02965.hp1 others(1): Show HG01071.hp2 HG02809.hp1 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0072 a0001c0001t0003g0044 a0001c0001t0003g0069 others(1): Show a0001c0001t0002g0072 a0001c0001t0003g0044 a0001c0001t0003g0069 a0001c0001t0004g0020	4	74	0.0541	30	c.147 others(51): Show c.1473+12672_1473+12701dupTCCTTTCCTTTCCTTTCCTTTCCT TTCCTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	6/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56204476	C C	CTTTTATT others(23): Show CTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG06807.hp1 HG02647.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0013 a0001c0001t0009 a0001c0002t0013	a0001c0001t0009g0073 a0001c0002t0013g0074 a0001c0001t0009g0073 a0001c0002t0013g0074	2	74	0.0270	30	c.107 others(51): Show c.1075-30986_1075-30957dupTAAAATAAAATAAAATAAAATAAA ATAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERCC2_chr19_45344837_45375573	45346834	C C	CCAGACCC others(23): Show CCAGACCCTCCTTAGAATCCCACAGTCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0007 a0010c0022t0007	a0010c0022t0007g0056 a0010c0022t0007g0056	1	412	0.0024	30	c.47 others(41): Show c.4794_*4795insTGGGGACTGTGGGATTCTAAGGAGGGTCTG	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		3002		chr19	TogoVar
ERCC2_chr19_45344837_45375573	45375534	A A	ATATTTTA others(23): Show ATATTTTATTTTATTTTATTTTATTTTATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01243.hp2 HG01934.hp2 others(4): Show HG01099.hp2 HG01243.hp2 HG01934.hp2 HG02895.hp2 HG03471.hp2 HG03516.hp1 HG03831.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0008 a0001c0001 a0002c0003 a0003c0008	a0001c0001t0001 a0002c0003t0005 a0003c0008t0003 a0001c0001t0001 a0002c0003t0005 a0003c0008t0003	a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0165 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0165 a0001c0001t0001g0169 a0002c0003t0005g0085 a0003c0008t0003g0123	7	412	0.0170	30	c.-49 others(41): Show c.-4995_-4994insAAATAAAATAAAATAAAATAAAATAAAATA	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		4962		chr19	TogoVar
ERCC6L2_chr9_95870691_96023447	95907832	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0038 a0004c0004t0096 a0004c0004t0038 a0004c0004t0096	a0004c0004t0038g0010 a0004c0004t0096g0010 a0004c0004t0038g0010 a0004c0004t0096g0010	2	392	0.0051	30	c.788 others(45): Show c.788+585_788+586insACACAAACACACACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907834	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp1 HG01192.hp1 others(18): Show HG01070.hp1 HG01099.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02615.hp2 HG02717.hp1 HG02965.hp2 HG03453.hp1 NA18948.hp1 NA18987.hp2 NA19011.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0018	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0007c0008 a0018c0019	a0001c0001t0001 a0002c0002t0003 a0002c0002t0006 others(7): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0029 a0002c0002t0030 a0003c0003t0008 a0003c0003t0016 a0007c0008t0023 a0007c0008t0066 a0018c0019t0016	a0001c0001t0001g0031 a0002c0002t0003g0255 a0002c0002t0003g0342 others(18): Show a0001c0001t0001g0031 a0002c0002t0003g0255 a0002c0002t0003g0342 a0002c0002t0003g0349 a0002c0002t0003g0350 a0002c0002t0003g0353 a0002c0002t0003g0354 a0002c0002t0003g0356 a0002c0002t0003g0358 a0002c0002t0003g0360 a0002c0002t0006g0305 a0002c0002t0006g0306 a0002c0002t0006g0343 a0002c0002t0029g0362 a0002c0002t0030g0361 a0003c0003t0008g0269 a0003c0003t0016g0267 a0007c0008t0023g0293 a0007c0008t0023g0295 a0007c0008t0066g0296 a0018c0019t0016g0326	21	392	0.0536	30	c.788 others(45): Show c.788+585_788+586insACACACAAACACACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907836	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(40): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01346.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02738.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG04115.hp2 HG04228.hp1 NA18939.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18979.hp2 NA18981.hp1 NA18988.hp2 NA19058.hp1 NA19060.hp1 NA19080.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0023	a0001c0001 a0002c0002 a0014c0016 others(1): Show a0001c0001 a0002c0002 a0014c0016 a0023c0025	a0001c0001t0001 a0001c0001t0014 a0001c0001t0025 others(8): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026 a0001c0001t0036 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0002c0002t0006 a0014c0016t0001 a0023c0025t0084	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0025 others(37): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0014g0039 a0001c0001t0025g0058 a0001c0001t0026g0002 a0001c0001t0036g0037 a0001c0001t0036g0054 a0001c0001t0083g0067 a0001c0001t0085g0064 a0001c0001t0086g0072 a0002c0002t0006g0339 a0014c0016t0001g0084 a0023c0025t0084g0035	43	392	0.1097	30	c.788 others(45): Show c.788+585_788+586insACACACACAAACACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907838	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0064 a0001c0005t0064	a0001c0005t0064g0251 a0001c0005t0064g0251	1	392	0.0026	30	c.788 others(45): Show c.788+585_788+586insACACACACACAAACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(23): Show ATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	334	0.0030	30	c.83- others(45): Show c.83-3096_83-3095insATATATATATATATATGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(23): Show ATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18963.hp1 HG01981.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0284 a0001c0001t0001g0119 a0001c0001t0001g0284	2	334	0.0060	30	c.83- others(45): Show c.83-3096_83-3095insATATATGTGTGTGTGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATGT others(23): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	334	0.0030	30	c.83- others(45): Show c.83-3096_83-3095insATATGTGTGTGTGTGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATGTGT others(23): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	334	0.0030	30	c.83- others(45): Show c.83-3096_83-3095insATGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893939	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00673.hp1 others(13): Show HG00544.hp2 HG00597.hp1 HG00673.hp1 HG01074.hp2 HG02027.hp1 HG02155.hp2 HG02293.hp1 NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18969.hp1 NA18970.hp2 NA18979.hp1 NA19007.hp1 NA19065.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0050 others(13): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0169 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0002g0042 a0001c0001t0002g0190	16	334	0.0479	30	c.83- others(45): Show c.83-3048_83-3047insATATATATATATATGTATATATATATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERG_chr21_38375036_38503477	38407634	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	360	0.0028	30	c.389 others(47): Show c.389-3926_389-3925insTATATATATATATATATATATATATATA TA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	3/9			chr21	TogoVar
ERICH5_chr8_98059568_98098609	98075785	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	442	0.0023	30	c.58+ others(47): Show c.58+11077_58+11078insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar

Search by Variant

Search

Search Results