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
EFNA4_chr1_155058740_155074553	155059153	T T	TCTCCTCA others(4): Show TCTCCTCAGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	334	0.0030	11	c.-46 others(22): Show c.-4671_-4670insCTCCTCAGGCC		EFNA4	ENSG00000243364.8	transcript	ENST00000368409.8	protein_coding					4586		chr1	TogoVar
EFNA5_chr5_107371894_107675937	107395034	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01192.hp2 HG01243.hp2 others(6): Show HG01169.hp2 HG01192.hp2 HG01243.hp2 HG03195.hp1 HG03486.hp1 HG03486.hp2 NA18906.hp2 NA19043.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0037 a0001c0001t0045 others(6): Show a0001c0001t0003 a0001c0001t0037 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0067 a0001c0001t0068 a0001c0001t0097	a0001c0001t0003g0070 a0001c0001t0037g0129 a0001c0001t0045g0026 others(6): Show a0001c0001t0003g0070 a0001c0001t0037g0129 a0001c0001t0045g0026 a0001c0001t0046g0037 a0001c0001t0048g0011 a0001c0001t0050g0111 a0001c0001t0067g0175 a0001c0001t0068g0188 a0001c0001t0097g0027	9	190	0.0474	11	c.419 others(28): Show c.419-7274_419-7264dupAAAAAAAAAAA		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4						chr5	TogoVar
EFNA5_chr5_107371894_107675937	107395052	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	190	0.0053	11	c.419 others(28): Show c.419-7282_419-7281insGAAAAAAAAAA		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4						chr5	TogoVar
EFNA5_chr5_107371894_107675937	107623027	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0009 a0001c0001t0049g0009	1	190	0.0053	11	c.125 others(30): Show c.125+47451_125+47461dupTTTTTTTTTTT		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4						chr5	TogoVar
EFNB2_chr13_106484745_106540662	106540314	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	356	0.0028	11	c.-53 others(22): Show c.-5351_-5350insCCCCCCCCCCC		EFNB2	ENSG00000125266.8	transcript	ENST00000646441.1	protein_coding					4653		chr13	TogoVar
EFNB3_chr17_7700202_7716372	7705698	T T	TACTGGAA others(4): Show TACTGGAACTCG	frameshift_variant frameshift_variant	HIGH	NA18957.hp2 NA18957.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0008 a0005c0006t0003g0008	1	434	0.0023	11	c.101 others(18): Show c.101_111dupACTGGAACTCG	p.Ala others(4): Show p.Ala38fs	EFNB3	ENSG00000108947.5	transcript	ENST00000226091.3	protein_coding	1/5	509/3216	112/1023	38/340		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFNB3_chr17_7700202_7716372	7714149	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	434	0.0023	11	c.45 others(22): Show c.4573_*4574insTGTGTGTGTGT		EFNB3	ENSG00000108947.5	transcript	ENST00000226091.3	protein_coding					2778		chr17	TogoVar
EFR3A_chr8_131899093_132018642	132013969	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG03669.hp1 others(1): Show HG01257.hp1 HG01258.hp1 HG03669.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0038 a0001c0003t0003g0050 a0001c0003t0003g0054 others(1): Show a0001c0003t0003g0038 a0001c0003t0003g0050 a0001c0003t0003g0054 a0001c0003t0003g0075	4	412	0.0097	11	c.30 others(22): Show c.3074_*3075insAAAAAAAAAAA		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding					328		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132013975	A A	ATATATAT others(4): Show ATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02165.hp2 HG04228.hp2 others(4): Show HG00609.hp2 HG02165.hp2 HG04228.hp2 NA18981.hp2 NA18989.hp1 NA19010.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0185 a0001c0001t0001g0191 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0199	7	412	0.0170	11	c.30 others(22): Show c.3080_*3081insTATATATATAT		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding					334		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132013977	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0036 a0001c0003t0003g0036	1	412	0.0024	11	c.30 others(22): Show c.3082_*3083insAAAAAAAAAAT		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding					336		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132013977	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 NA18977.hp2 HG00673.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0055 a0001c0003t0003g0071 a0001c0003t0003g0055 a0001c0003t0003g0071	2	412	0.0049	11	c.30 others(22): Show c.3082_*3083insAAAAAAAATAT		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding					336		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132013977	A A	AAATATAT others(4): Show AAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02071.hp2 NA18980.hp1 HG00140.hp1 HG02071.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0164 a0001c0001t0001g0216 a0001c0001t0001g0015 a0001c0001t0001g0164 a0001c0001t0001g0216	3	412	0.0073	11	c.30 others(22): Show c.3082_*3083insAATATATATAT		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding					336		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132013977	A A	ATATATAT others(4): Show ATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02602.hp1 NA18990.hp1 others(2): Show HG02027.hp1 HG02602.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0020 a0004c0005t0001 a0001c0001t0001 a0001c0001t0020 a0004c0005t0001	a0001c0001t0001g0142 a0001c0001t0001g0171 a0001c0001t0001g0181 others(2): Show a0001c0001t0001g0142 a0001c0001t0001g0171 a0001c0001t0001g0181 a0001c0001t0020g0205 a0004c0005t0001g0092	5	412	0.0121	11	c.30 others(22): Show c.3082_*3083insTATATATATAT		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding					336		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG03486.hp1 others(5): Show HG02280.hp2 HG02630.hp2 HG03486.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18978.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0003 a0001c0001t0001 a0001c0001t0004 a0001c0003t0003	a0001c0001t0001g0011 a0001c0001t0001g0114 a0001c0001t0001g0124 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0004g0270 a0001c0003t0003g0041	8	412	0.0194	11	c.72 others(22): Show c.7279_*7280insAAAAAAAAAAA		EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding					4533		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25080283	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0204 a0001c0001t0023g0204	1	306	0.0033	11	c.8-1 others(26): Show c.8-11024_8-11014dupTTTTTTTTTTT		EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EFR3B_chr2_25037076_25164135	25092958	A A	AGCCATAG others(4): Show AGCCATAGTGAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 NA18522.hp1 HG02280.hp2 HG02451.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0212 a0001c0004t0014g0213 a0001c0004t0014g0214 a0001c0004t0014g0212 a0001c0004t0014g0213 a0001c0004t0014g0214	3	306	0.0098	11	c.85- others(22): Show c.85-36_85-35insAGGCCATAGTG		EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EGFL6_chrX_13564601_13638575	13623377	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0147 a0002c0003t0004g0147	1	302	0.0033	11	c.118 others(28): Show c.1184-437_1184-427dupTTTTTTTTTTT		EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFL6_chrX_13564601_13638575	13626752	T T	TCTTTGTG others(4): Show TCTTTGTGTATG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0065 a0001c0019t0002g0065	1	302	0.0033	11	c.128 others(28): Show c.1286-246_1286-236dupTTTGTGTATGC		EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	10/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFR_chr7_55014017_55216628	55087273	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03139.hp1 HG03486.hp2 HG02735.hp2 HG03139.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0001t0011 a0001c0019t0006 a0001c0001t0001 a0001c0001t0011 a0001c0019t0006	a0001c0001t0001g0104 a0001c0001t0011g0189 a0001c0019t0006g0115 a0001c0001t0001g0104 a0001c0001t0011g0189 a0001c0019t0006g0115	3	250	0.0120	11	c.89- others(28): Show c.89-55003_89-55002insAAAAAAAAAAA		EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55204634	C C	CCACACAC others(4): Show CCACACACACAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02572.hp1 others(19): Show HG02055.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02818.hp1 HG02896.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0022 a0001c0023 a0001c0043 a0001c0045	a0001c0001t0001 a0001c0001t0055 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0001t0055 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0005t0004 a0001c0012t0004 a0001c0022t0001 a0001c0023t0001 a0001c0043t0004 a0001c0045t0004	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0081 others(19): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0081 a0001c0001t0001g0104 a0001c0001t0001g0170 a0001c0001t0001g0247 a0001c0001t0055g0165 a0001c0003t0001g0006 a0001c0003t0004g0142 a0001c0004t0001g0100 a0001c0004t0001g0241 a0001c0004t0001g0242 a0001c0004t0004g0174 a0001c0005t0001g0152 a0001c0005t0001g0153 a0001c0005t0004g0112 a0001c0005t0004g0129 a0001c0012t0004g0141 a0001c0022t0001g0019 a0001c0023t0001g0075 a0001c0043t0004g0150 a0001c0045t0004g0143	22	250	0.0880	11	c.327 others(28): Show c.3272-616_3272-615insCACATCACACA		EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr7	TogoVar
EGF_chr4_109907883_110018766	109970824	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0007 a0001c0019t0007	a0001c0019t0007g0139 a0001c0019t0007g0139	1	388	0.0026	11	c.172 others(30): Show c.1724+1717_1724+1727dupAAAAAAAAAAA		EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	11/23					INFO_REALIGN_3_PRIME	chr4	TogoVar
EGLN1_chr1_231358756_231427287	231383057	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0305 a0001c0008t0001g0305	1	338	0.0030	11	c.892 others(28): Show c.892-8969_892-8959dupTTTTTTTTTTT		EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/4						chr1	TogoVar
EGLN1_chr1_231358756_231427287	231406165	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01257.hp2 others(23): Show HG00099.hp1 HG00741.hp2 HG01257.hp2 HG02109.hp1 HG02109.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02723.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA19005.hp2 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 others(22): Show a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0003g0002 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0135 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0017g0143 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0018 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049	26	338	0.0769	11	c.891 others(30): Show c.891+14822_891+14832dupTTTTTTTTTTT		EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/4						chr1	TogoVar
EGLN1_chr1_231358756_231427287	231412011	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0118 a0002c0002t0005g0118	1	338	0.0030	11	c.891 others(28): Show c.891+8976_891+8986dupTTTTTTTTTTT		EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/4						chr1	TogoVar
EGR3_chr8_22682659_22698480	22685424	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	374	0.0027	11	c.50 others(22): Show c.5048_*5049insCACACACACAC		EGR3	ENSG00000179388.9	transcript	ENST00000317216.3	protein_coding					2234		chr8	TogoVar
EGR3_chr8_22682659_22698480	22685572	G G	GCAAAGCC others(4): Show GCAAAGCCTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	374	0.0027	11	c.49 others(22): Show c.4900_*4901insTAGAGGCTTTG		EGR3	ENSG00000179388.9	transcript	ENST00000317216.3	protein_coding					2086		chr8	TogoVar
EHBP1_chr2_62700713_63051487	62894927	A A	AGAGAGAG others(4): Show AGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	198	0.0051	11	c.118 others(32): Show c.1185+20395_1185+20396insGAGAGAGAGAG		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22						chr2	TogoVar
EHBP1_chr2_62700713_63051487	62957641	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03453.hp2 NA19240.hp2 HG03130.hp2 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0001g0181 a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0001g0181	3	198	0.0152	11	c.246 others(30): Show c.2460+1993_2460+2003dupTTTTTTTTTTT		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	14/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	63043920	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	198	0.0051	11	c.327 others(30): Show c.3278-1105_3278-1095dupTTTTTTTTTTT		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	21/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD2_chr19_47708422_47748134	47725396	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0222 a0001c0002t0003g0222	1	398	0.0025	11	c.503 others(26): Show c.503-403_503-393dupAAAAAAAAAAA		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03831.hp1 NA20752.hp1 HG00099.hp2 HG03831.hp1 NA20752.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0361 a0001c0008t0005g0363 a0001c0008t0005g0383 a0001c0008t0005g0361 a0001c0008t0005g0363 a0001c0008t0005g0383	3	398	0.0075	11	c.915 others(28): Show c.915+5056_915+5057insAAAAAAAAATA		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0283 a0001c0002t0008g0283	1	398	0.0025	11	c.915 others(28): Show c.915+5056_915+5057insATATATATATA		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD2_chr19_47708422_47748134	47733751	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG01496.hp1 others(15): Show HG00280.hp2 HG00423.hp1 HG01496.hp1 HG01516.hp2 HG01943.hp1 HG02056.hp2 HG02155.hp1 HG02559.hp1 HG02818.hp1 HG03239.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA19057.hp1 NA19058.hp2 NA19074.hp1 NA19080.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0002 a0001c0001t0001 a0001c0002t0002 a0001c0004t0002	a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0026 others(15): Show a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0122 a0001c0001t0001g0216 a0001c0001t0001g0250 a0001c0001t0001g0267 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0375 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0382 a0001c0001t0001g0386 a0001c0002t0002g0134 a0001c0004t0002g0234	18	398	0.0452	11	c.916 others(28): Show c.916-2604_916-2594dupAAAAAAAAAAA		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD3_chr2_31229152_31274451	31243460	C C	CTTTCTTT others(4): Show CTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0239 a0001c0001t0083g0239	1	378	0.0027	11	c.228 others(26): Show c.228-811_228-810insCTTTTTTTTTT		EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD3_chr2_31229152_31274451	31243460	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp2 HG02257.hp2 others(6): Show HG00735.hp1 HG01433.hp2 HG02257.hp2 HG02258.hp1 NA18953.hp1 NA18957.hp1 NA18977.hp1 NA19087.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0044	a0001c0001t0002g0162 a0001c0001t0002g0195 a0001c0001t0002g0197 others(6): Show a0001c0001t0002g0162 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0007g0172 a0001c0001t0010g0160 a0001c0001t0015g0166 a0001c0001t0044g0196	9	378	0.0238	11	c.228 others(26): Show c.228-811_228-801dupTTTTTTTTTTT		EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHHADH_chr3_185185624_185259049	185194800	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01070.hp2 others(21): Show HG00642.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01884.hp1 HG01975.hp2 HG02109.hp2 HG02155.hp1 HG02615.hp1 HG02683.hp2 HG03491.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04228.hp2 NA18522.hp1 NA18964.hp1 NA18968.hp1 NA18970.hp2 NA18992.hp2 NA19003.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0016 a0001c0001 a0016c0016	a0001c0001t0001 a0016c0016t0001 a0001c0001t0001 a0016c0016t0001	a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0091 others(21): Show a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0313 a0016c0016t0001g0199	24	348	0.0690	11	c.911 others(28): Show c.911-1324_911-1314dupTTTTTTTTTTT		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	6/6						chr3	TogoVar
EHHADH_chr3_185185624_185259049	185213119	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18982.hp2 NA18972.hp1 NA18982.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0042 a0003c0003t0001g0039 a0001c0001t0001g0042 a0003c0003t0001g0039	2	348	0.0058	11	c.568 others(28): Show c.568+5006_568+5016dupTTTTTTTTTTT		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	5/6						chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19062.hp2 NA18961.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0159 a0001c0001t0001g0160	2	348	0.0058	11	c.463 others(28): Show c.463+1174_463+1175insATTTTTTTTTT		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6						chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp1 HG02683.hp1 others(11): Show HG00738.hp1 HG01167.hp1 HG02683.hp1 HG03491.hp1 HG03704.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18970.hp2 NA18974.hp2 NA18975.hp1 NA18983.hp2 NA18986.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0130 a0001c0001t0001g0155 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0130 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0184 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0267 a0001c0001t0001g0268	14	348	0.0402	11	c.463 others(28): Show c.463+1174_463+1175insATATTTTTTTT		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6						chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01069.hp1 others(11): Show HG00140.hp2 HG00735.hp1 HG01069.hp1 HG01099.hp1 HG02109.hp2 HG02615.hp1 HG03490.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG04228.hp2 NA18953.hp1 NA19066.hp2 NA19077.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0016 a0001c0001 a0016c0016	a0001c0001t0001 a0016c0016t0001 a0001c0001t0001 a0016c0016t0001	a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0164 others(11): Show a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0016c0016t0001g0199	14	348	0.0402	11	c.463 others(28): Show c.463+1174_463+1175insATATATTTTTT		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6						chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18989.hp1 NA19070.hp1 NA18522.hp1 NA18989.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0255 a0001c0001t0001g0266 a0001c0001t0001g0216 a0001c0001t0001g0255 a0001c0001t0001g0266	3	348	0.0086	11	c.463 others(28): Show c.463+1174_463+1175insATATATATTTT		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6						chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18906.hp2 HG02895.hp1 NA18906.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0259 a0010c0012t0001g0260 a0010c0012t0001g0259 a0010c0012t0001g0260	2	348	0.0058	11	c.463 others(28): Show c.463+1174_463+1175insATATATATATT		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6						chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0182 a0002c0002t0007g0182	1	348	0.0029	11	c.463 others(28): Show c.463+1174_463+1175insATATATATATA		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6						chr3	TogoVar
EHMT1_chr9_137614005_137841127	137675802	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03098.hp1 NA18522.hp2 HG01884.hp1 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0057 a0001c0003t0001g0060 a0001c0009t0001g0061 a0001c0003t0001g0057 a0001c0003t0001g0060 a0001c0009t0001g0061	3	170	0.0177	11	c.22- others(28): Show c.22-35165_22-35164insTTTTTTTTTTG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	1/26						chr9	TogoVar
EHMT1_chr9_137614005_137841127	137742289	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	170	0.0059	11	c.824 others(28): Show c.824-1082_824-1081insGTGTGTGTGTG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	4/26						chr9	TogoVar
EI24_chr11_125564477_125589684	125584229	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0005 a0001c0001t0026g0005	1	362	0.0028	11	c.56 others(20): Show c.569_*579dupAAAAAAAAAAA		EI24	ENSG00000149547.15	transcript	ENST00000278903.11	protein_coding	11/11				580	INFO_REALIGN_3_PRIME	chr11	TogoVar
EID2B_chr19_39525987_39537852	39529272	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(38): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00733.hp2 HG00738.hp2 HG01099.hp2 HG01175.hp1 HG01243.hp1 HG01884.hp2 HG02015.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02622.hp2 HG02895.hp2 HG03490.hp1 HG03492.hp1 HG03710.hp1 HG04199.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18952.hp2 NA18959.hp2 NA18972.hp1 NA18973.hp2 NA18978.hp1 NA18981.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19056.hp2 NA19066.hp1 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000	41	418	0.0981	11	c.30 others(22): Show c.3044_*3045insAAAAAAAAAAA		EID2B	ENSG00000176401.6	transcript	ENST00000326282.5	protein_coding					1714		chr19	TogoVar
EID3_chr12_104298739_104310205	104302486	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01943.hp2 HG02109.hp1 others(9): Show HG00099.hp2 HG01943.hp2 HG02109.hp1 HG02622.hp2 HG02683.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG03225.hp1 HG03491.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0000 a0001c0002t0007g0000 a0001c0002t0001g0000 a0001c0002t0007g0000	12	418	0.0287	11	c.-14 others(22): Show c.-1449_-1448insTTTTTTTTTTT		EID3	ENSG00000255150.2	transcript	ENST00000527879.2	protein_coding					1252		chr12	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03130.hp2 HG02602.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0013 a0001c0002 a0002c0013	a0001c0002t0001 a0002c0013t0001 a0001c0002t0001 a0002c0013t0001	a0001c0002t0001g0204 a0002c0013t0001g0227 a0001c0002t0001g0204 a0002c0013t0001g0227	2	418	0.0048	11	c.119 others(28): Show c.119-1910_119-1909insATATATATATA		EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14						chr7	TogoVar
EIF2AK4_chr15_39929115_40040591	40017501	C C	CATATATA others(4): Show CATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0250 a0004c0006t0004g0250	1	368	0.0027	11	c.406 others(28): Show c.4065+259_4065+260insATATATATATA		EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38						chr15	TogoVar

Search by Variant

Search

Search Results