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
USP8_chr15_50419405_50519421	50445545	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02735.hp2 HG03041.hp1 others(4): Show HG01516.hp1 HG02735.hp2 HG03041.hp1 NA19002.hp2 NA19030.hp2 NA19060.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0042 a0001c0001t0198 others(4): Show a0001c0001t0004 a0001c0001t0042 a0001c0001t0198 a0001c0001t0203 a0001c0001t0211 a0001c0001t0215 a0001c0002t0194	a0001c0001t0004g0011 a0001c0001t0042g0139 a0001c0001t0198g0332 others(4): Show a0001c0001t0004g0011 a0001c0001t0042g0139 a0001c0001t0198g0332 a0001c0001t0203g0116 a0001c0001t0211g0229 a0001c0001t0215g0145 a0001c0002t0194g0046	7	15	0.4667	14	c.250 others(31): Show c.250-3844_250-3831dupAAAAAAAAAAAAAA	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP9X_chrX_41080445_41241579	41084602	G G	GGCCCTCG others(7): Show GGCCCTCGGGACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	291	0.0034	14	c.-16 others(25): Show c.-1666_-1665insGCCCTCGGGACCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding		842		chrX	TogoVar
USP9X_chrX_41080445_41241579	41099096	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0264 a0001c0001t0004g0264	1	82	0.0122	14	c.-15 others(35): Show c.-159+13000_-159+13013dupTTTTTTTTTTTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(7): Show ACACACACACTCTCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02056.hp1 HG02622.hp2 others(1): Show HG02004.hp2 HG02056.hp1 HG02622.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0182 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0182 a0001c0001t0001g0229	4	67	0.0597	14	c.96+ others(29): Show c.96+1961_96+1962insACACACACTCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(7): Show ACACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02280.hp2 HG02723.hp2 others(2): Show HG01943.hp1 HG02280.hp2 HG02723.hp2 HG02896.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0001t0001 a0001c0001t0002 a0001c0004t0002	a0001c0001t0001g0128 a0001c0001t0002g0089 a0001c0004t0002g0178 others(2): Show a0001c0001t0001g0128 a0001c0001t0002g0089 a0001c0004t0002g0178 a0001c0004t0002g0179 a0001c0004t0002g0212	5	68	0.0735	14	c.96+ others(29): Show c.96+1961_96+1962insACACACTCTCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACTC others(7): Show ACACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG04115.hp1 HG02976.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0223 a0001c0001t0001g0205 a0001c0001t0001g0223	2	65	0.0308	14	c.96+ others(29): Show c.96+1961_96+1962insACACTCTCTCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACTCTC others(7): Show ACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	64	0.0156	14	c.96+ others(29): Show c.96+1961_96+1962insACTCTCTCTCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACTCTCTC others(7): Show ACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	64	0.0156	14	c.96+ others(29): Show c.96+1982_96+1995dupTCTCTCTCTCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41161635	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01175.hp2 HG01358.hp1 others(10): Show HG01099.hp1 HG01175.hp2 HG01358.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02145.hp1 HG02293.hp1 HG02523.hp1 HG02683.hp1 HG04184.hp1 NA18990.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014	a0001c0001t0001g0146 a0001c0001t0003g0252 a0001c0001t0003g0253 others(10): Show a0001c0001t0001g0146 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0271 a0001c0001t0003g0286 a0001c0001t0003g0290 a0001c0001t0004g0264 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0278 a0001c0001t0014g0183	13	107	0.1215	14	c.189 others(33): Show c.1898-1145_1898-1132dupTTTTTTTTTTTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	14/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41175772	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18968.hp2 NA19066.hp1 others(2): Show NA18950.hp2 NA18968.hp2 NA19066.hp1 NA19082.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0260 others(2): Show a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0265 a0001c0001t0004g0255	5	241	0.0207	14	c.314 others(33): Show c.3148+3827_3148+3828insCACACACACACACA	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	21/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
USP9X_chrX_41080445_41241579	41195046	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp1 HG01358.hp1 others(20): Show HG00323.hp1 HG01243.hp1 HG01358.hp1 HG02109.hp2 HG02145.hp1 HG02523.hp1 HG03453.hp2 HG04184.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18950.hp2 NA18954.hp1 NA18957.hp2 NA18975.hp2 NA18992.hp1 NA19043.hp1 NA19057.hp2 NA19063.hp1 NA19066.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0001t0023	a0001c0001t0003g0238 a0001c0001t0003g0242 a0001c0001t0003g0243 others(20): Show a0001c0001t0003g0238 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0271 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0284 a0001c0001t0003g0289 a0001c0001t0004g0240 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0262 a0001c0001t0022g0276 a0001c0001t0023g0241	23	258	0.0891	14	c.397 others(33): Show c.3978-1197_3978-1196insTTTTTTTTTTTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	26/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
UST_chr6_148742030_149081990	148769750	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0003 a0002c0002t0016g0003	1	94	0.0106	14	c.247 others(33): Show c.247+22093_247+22106dupGTGTGTGTGTGTGT	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UST_chr6_148742030_149081990	148870104	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0151 a0001c0001t0013g0151	1	20	0.0500	14	c.248 others(33): Show c.248-16857_248-16844dupCACACACACACACA	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UST_chr6_148742030_149081990	148871117	C C	CCTCTCTC others(7): Show CCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp2 HG01346.hp2 others(9): Show HG01070.hp1 HG01243.hp2 HG01346.hp2 HG02280.hp1 HG02451.hp2 HG02809.hp1 HG02922.hp1 HG03471.hp1 HG03688.hp1 NA18906.hp2 NA18944.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0005 a0001c0001t0001g0064 a0001c0001t0001g0122 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0064 a0001c0001t0001g0122 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0002g0025 a0001c0001t0002g0136 a0001c0001t0002g0178 a0001c0001t0003g0065 a0001c0001t0003g0074 a0001c0001t0003g0188 a0001c0001t0006g0068	12	20	0.6000	14	c.248 others(33): Show c.248-15853_248-15840dupTCTCTCTCTCTCTC	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UST_chr6_148742030_149081990	148944508	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19087.hp1 NA19086.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0100 a0002c0002t0001g0182 a0001c0001t0001g0100 a0002c0002t0001g0182	2	15	0.1333	14	c.447 others(31): Show c.447+3100_447+3113dupCACACACACACACA	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UST_chr6_148742030_149081990	149010898	A A	AAAAAAAA others(7): Show AAAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	208	0.0048	14	c.682 others(31): Show c.682-8232_682-8231insCAAACAAAAAAAAA	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UST_chr6_148742030_149081990	149010913	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp2 HG03471.hp1 HG02559.hp1 HG02886.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0006 a0001c0001t0001g0187 a0001c0001t0005g0163 a0001c0001t0001g0006 a0001c0001t0001g0187 a0001c0001t0005g0163	3	34	0.0882	14	c.682 others(31): Show c.682-8220_682-8219insAAAAAAACAAAAAA	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UST_chr6_148742030_149081990	149043015	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp2 NA20129.hp1 HG03486.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0014 a0001c0001t0001 a0001c0001t0002 a0001c0003t0014	a0001c0001t0001g0095 a0001c0001t0002g0044 a0001c0003t0014g0148 a0001c0001t0001g0095 a0001c0001t0002g0044 a0001c0003t0014g0148	3	184	0.0163	14	c.937 others(33): Show c.937+21541_937+21542insCTTTCTTTTTCTTT	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTP11_chr1_38007734_38029820	38012048	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG02080.hp2 HG02615.hp2 others(9): Show HG01256.hp2 HG02080.hp2 HG02615.hp2 HG02630.hp1 HG03453.hp1 HG03540.hp1 HG03688.hp1 NA18522.hp2 NA18943.hp2 NA19065.hp1 NA19083.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0075 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0075 a0001c0001t0002g0006 a0001c0001t0002g0022 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0053 a0001c0001t0009g0048	12	154	0.0779	14	c.-75 others(23): Show c.-755_-754insTTTTTTTTTTTTTT	UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding		685		chr1	TogoVar
UTP20_chr12_101275105_101391618	101310577	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19078.hp2 HG02809.hp1 NA19078.hp2	a0003 a0004 a0003 a0004	a0003c0006 a0004c0009 a0003c0006 a0004c0009	a0003c0006t0001 a0004c0009t0001 a0003c0006t0001 a0004c0009t0001	a0003c0006t0001g0162 a0004c0009t0001g0280 a0003c0006t0001g0162 a0004c0009t0001g0280	2	90	0.0222	14	c.223 others(31): Show c.2231+746_2231+759dupAAAAAAAAAAAAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTP20_chr12_101275105_101391618	101365072	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02922.hp1 others(1): Show HG02809.hp1 HG02896.hp2 HG02922.hp1 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0008 a0004c0009 a0001c0004 a0001c0008 a0004c0009	a0001c0004t0001 a0001c0008t0001 a0004c0009t0001 a0001c0004t0001 a0001c0008t0001 a0004c0009t0001	a0001c0004t0001g0017 a0001c0004t0001g0020 a0001c0008t0001g0269 others(1): Show a0001c0004t0001g0017 a0001c0004t0001g0020 a0001c0008t0001g0269 a0004c0009t0001g0280	4	58	0.0690	14	c.595 others(31): Show c.5959-361_5959-348dupGTGTGTGTGTGTGT	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	45/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTP25_chr1_209822972_209862565	209824212	G G	GCACACAC others(7): Show GCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(57): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00609.hp1 HG00621.hp2 HG00733.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01175.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02040.hp1 HG02074.hp2 HG02155.hp1 HG02165.hp1 HG02451.hp2 HG02523.hp1 HG02976.hp1 HG03041.hp1 HG03491.hp1 HG03669.hp2 HG03831.hp1 NA18941.hp2 NA18945.hp1 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp2 NA18967.hp1 NA18972.hp1 NA18974.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18990.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19055.hp1 NA19066.hp2 NA19070.hp1 NA19076.hp1 NA19077.hp2 NA19080.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0016 a0003c0003 a0001c0001 a0001c0016 a0003c0003	a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 others(8): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 a0001c0001t0027 a0001c0001t0031 a0001c0001t0055 a0001c0016t0015 a0003c0003t0005 a0003c0003t0020 a0003c0003t0045 a0003c0003t0046	a0001c0001t0003g0003 a0001c0001t0003g0023 a0001c0001t0003g0148 others(25): Show a0001c0001t0003g0003 a0001c0001t0003g0023 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0015g0022 a0001c0001t0016g0044 a0001c0001t0027g0150 a0001c0001t0031g0003 a0001c0001t0055g0156 a0001c0016t0015g0138 a0003c0003t0005g0006 a0003c0003t0005g0018 a0003c0003t0005g0021 a0003c0003t0005g0042 a0003c0003t0005g0127 a0003c0003t0005g0128 a0003c0003t0005g0129 a0003c0003t0005g0131 a0003c0003t0005g0132 a0003c0003t0005g0136 a0003c0003t0020g0006 a0003c0003t0020g0021 a0003c0003t0020g0141 a0003c0003t0045g0133 a0003c0003t0046g0006	60	137	0.4380	14	c.-38 others(25): Show c.-3852_-3851insCACACACACACACA	UTP25	ENSG00000117597.18	transcript	ENST00000491415.7	protein_coding		3759		chr1	TogoVar
UTRN_chr6_144280335_144858034	144302509	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01496.hp1 HG01884.hp2 others(8): Show HG00140.hp2 HG01496.hp1 HG01884.hp2 HG02809.hp1 HG02809.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG04199.hp1 NA18956.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0008 others(6): Show a0001c0001 a0001c0002 a0001c0008 a0001c0013 a0001c0018 a0001c0022 a0001c0051 a0003c0015 a0003c0037	a0001c0001t0004 a0001c0002t0004 a0001c0002t0012 others(7): Show a0001c0001t0004 a0001c0002t0004 a0001c0002t0012 a0001c0008t0006 a0001c0013t0009 a0001c0018t0013 a0001c0022t0001 a0001c0051t0009 a0003c0015t0004 a0003c0037t0002	a0001c0001t0004g0075 a0001c0002t0004g0076 a0001c0002t0012g0071 others(8): Show a0001c0001t0004g0075 a0001c0002t0004g0076 a0001c0002t0012g0071 a0001c0008t0006g0072 a0001c0013t0009g0003 a0001c0013t0009g0074 a0001c0018t0013g0070 a0001c0022t0001g0004 a0001c0051t0009g0005 a0003c0015t0004g0073 a0003c0037t0002g0084	11	97	0.1134	14	c.79+ others(31): Show c.79+10611_79+10612insAAAAAAAAAAAAAA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144343363	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0002 a0005c0014t0002	a0005c0014t0002g0014 a0005c0014t0002g0014	1	26	0.0385	14	c.79+ others(31): Show c.79+51490_79+51503dupCACACACACACACA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144347837	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0081 a0001c0009t0011g0081	1	79	0.0127	14	c.80- others(31): Show c.80-55274_80-55273insTTTTTTTTTTTTTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144469703	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp2 HG02055.hp2 others(11): Show HG00741.hp1 HG01433.hp2 HG02055.hp2 HG02559.hp2 HG02647.hp2 HG02809.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA19030.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0011 a0001c0051 a0016c0044	a0001c0001t0002 a0001c0001t0027 a0001c0002t0001 others(9): Show a0001c0001t0002 a0001c0001t0027 a0001c0002t0001 a0001c0002t0005 a0001c0006t0003 a0001c0006t0005 a0001c0006t0009 a0001c0010t0002 a0001c0010t0015 a0001c0011t0014 a0001c0051t0009 a0016c0044t0013	a0001c0001t0002g0064 a0001c0001t0027g0095 a0001c0002t0001g0033 others(11): Show a0001c0001t0002g0064 a0001c0001t0027g0095 a0001c0002t0001g0033 a0001c0002t0005g0112 a0001c0002t0005g0119 a0001c0006t0003g0125 a0001c0006t0005g0124 a0001c0006t0009g0010 a0001c0010t0002g0059 a0001c0010t0015g0056 a0001c0011t0014g0121 a0001c0011t0014g0122 a0001c0051t0009g0005 a0016c0044t0013g0024	14	101	0.1386	14	c.306 others(33): Show c.3067-4006_3067-4005insTTTTTTTTTTTTTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	23/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144471057	A A	AGGGGGGG others(7): Show AGGGGGGGAGGGGGT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0029 a0001c0003t0006g0029	1	114	0.0088	14	c.306 others(33): Show c.3067-2662_3067-2661insGGGGGGAGGGGGTG	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	23/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144471069	A A	AGACGGAG others(7): Show AGACGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0014 a0001c0011t0014	a0001c0011t0014g0122 a0001c0011t0014g0122	1	125	0.0080	14	c.306 others(33): Show c.3067-2650_3067-2649insACGGAGGGGGGAGG	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	23/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144640058	G G	GAGAGATT others(7): Show GAGAGATTGAGAGAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp2 HG03225.hp2 HG02647.hp1 HG02895.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0016 a0002c0005 a0002c0016	a0002c0005t0006 a0002c0016t0001 a0002c0016t0019 a0002c0005t0006 a0002c0016t0001 a0002c0016t0019	a0002c0005t0006g0052 a0002c0016t0001g0015 a0002c0016t0019g0079 a0002c0005t0006g0052 a0002c0016t0001g0015 a0002c0016t0019g0079	3	27	0.1111	14	c.748 others(35): Show c.7480-38345_7480-38344insGATTGAGAGACAGA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	51/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144690072	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0015 a0002c0016t0001g0015	1	124	0.0081	14	c.765 others(35): Show c.7653-10014_7653-10013insTTTTTTTTTTTTTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144690095	T T	TTTTGTGT others(7): Show TTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0094 a0001c0002t0010g0094	1	35	0.0286	14	c.765 others(33): Show c.7653-9991_7653-9990insTTGTGTGTGTGTGT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144690095	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTGTG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0110 a0001c0002t0010g0110	1	35	0.0286	14	c.765 others(33): Show c.7653-9991_7653-9990insTTTTTTTTTTGTGT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144699473	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	15	0.0667	14	c.765 others(31): Show c.7653-600_7653-587dupTTTTTTTTTTTTTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144819911	C C	CCTCCTCC others(7): Show CCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	71	0.0141	14	c.935 others(31): Show c.9358-968_9358-967insCTCCTCCTCCTCTC	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	65/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144819911	C C	CCTCCTCC others(7): Show CCTCCTCCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp2 HG03225.hp1 HG02647.hp1 HG02895.hp2 HG03225.hp1	a0002 a0011 a0002 a0011	a0002c0016 a0011c0049 a0002c0016 a0011c0049	a0002c0016t0001 a0002c0016t0019 a0011c0049t0001 a0002c0016t0001 a0002c0016t0019 a0011c0049t0001	a0002c0016t0001g0015 a0002c0016t0019g0079 a0011c0049t0001g0067 a0002c0016t0001g0015 a0002c0016t0019g0079 a0011c0049t0001g0067	3	73	0.0411	14	c.935 others(31): Show c.9358-968_9358-967insCTCCTCTCTCTCTC	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	65/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTS2R_chr17_82366765_82382458	82379431	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	41	0.0244	14	c.39 others(25): Show c.3937_*3938insAAAAAAAAAAAAAA	UTS2R	ENSG00000181408.5	transcript	ENST00000313135.5	protein_coding		1974		chr17	TogoVar
UTS2_chr1_7842612_7858065	7853547	G G	GTGAAAAG others(7): Show GTGAAAAGTTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	466	0.0021	14	c.-54 others(23): Show c.-545_-544insATTTTAACTTTTCA	UTS2	ENSG00000049247.14	transcript	ENST00000361696.10	protein_coding		483		chr1	TogoVar
UTY_chrY_13243385_13485033	13380061	G G	GTGTGTGT others(7): Show GTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18989.hp1 NA18971.hp1 NA18989.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0075 a0001c0003t0001g0077	2	51	0.0392	14	c.646 others(33): Show c.646-10713_646-10712insTATATATACACACA	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding	8/29			chrY	TogoVar
UVRAG_chr11_75810210_76149232	75884212	G G	GTCTCTCT others(7): Show GTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02896.hp2 HG01243.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0143 a0001c0001t0011g0054 a0001c0001t0001g0143 a0001c0001t0011g0054	2	96	0.0208	14	c.432 others(31): Show c.432+4186_432+4199dupCTCTCTCTCTCTCT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75897871	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG01106.hp2 others(8): Show HG00438.hp1 HG00642.hp2 HG01106.hp2 HG01256.hp2 HG01975.hp1 HG02055.hp1 HG02080.hp1 HG02280.hp1 HG03831.hp2 NA18941.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0027 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0008g0001 a0002c0002t0001g0096 others(8): Show a0001c0001t0001g0002 a0001c0001t0008g0001 a0002c0002t0001g0096 a0002c0002t0001g0108 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0114 a0002c0002t0027g0105 a0002c0003t0001g0089	11	22	0.5000	14	c.507 others(31): Show c.507+8973_507+8986dupTTTTTTTTTTTTTT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75920008	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0117 a0003c0005t0007g0117	1	11	0.0909	14	c.593 others(31): Show c.593+7991_593+8004dupTTTTTTTTTTTTTT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75923003	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	126	0.0079	14	c.593 others(33): Show c.593+10971_593+10984dupATATATATATATAT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75928939	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0122 a0001c0001t0038g0122	1	28	0.0357	14	c.593 others(33): Show c.593+16912_593+16925dupAAAAAAAAAAAAAA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	75950963	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	58	0.0172	14	c.594 others(33): Show c.594-10453_594-10440dupCACACACACACACA	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	76110211	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp1 HG02055.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0008 a0001c0001t0017	a0001c0001t0008g0001 a0001c0001t0017g0037 a0001c0001t0008g0001 a0001c0001t0017g0037	2	86	0.0233	14	c.130 others(33): Show c.1306-5706_1306-5693dupATATATATATATAT	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	76140112	C C	CCTCCCTC others(7): Show CCTCCCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0112 a0002c0002t0003g0112	1	90	0.0111	14	c.139 others(31): Show c.1398-596_1398-595insCCTCTCTCTCTCTC	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVRAG_chr11_75810210_76149232	76140112	C C	CCTCTCTC others(7): Show CCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0127 a0002c0002t0007g0127	1	90	0.0111	14	c.139 others(31): Show c.1398-575_1398-562dupTCTCTCTCTCTCTC	UVRAG	ENSG00000198382.9	transcript	ENST00000356136.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
UVSSA_chr4_1342208_1393049	1371256	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0118 a0002c0001t0001g0118	1	59	0.0169	14	c.128 others(33): Show c.1289-4086_1289-4073dupGTGTGTGTGTGTGT	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
UXS1_chr2_106088311_106199301	106186455	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	78	0.0128	14	c.94+ others(29): Show c.94+7692_94+7693insGTGTGTGTGTGTGT	UXS1	ENSG00000115652.15	transcript	ENST00000283148.12	protein_coding	1/14			chr2	TogoVar
VAC14_chr16_70682439_70806158	70760962	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	80	0.0125	14	c.137 others(33): Show c.1371+1564_1371+1577dupACACACACACACAC	VAC14	ENSG00000103043.15	transcript	ENST00000261776.10	protein_coding	12/18			chr16	TogoVar

Search by Variant

Search

Search Results