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	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
AADACL4_chr1_12639085_12672076	12660603	A A	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18962.hp1 NA18980.hp2 others(3): Show HG02040.hp1 NA18962.hp1 NA18980.hp2 NA18985.hp2 NA19063.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0122 a0001c0001t0001g0261 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0122 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265	6	308	0.0195	c.386 others(8): Show c.386-1188A>G		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12660767	C C	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp2 HG02055.hp2 others(6): Show HG00642.hp1 HG01175.hp2 HG02055.hp2 HG02818.hp2 HG02970.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0139 a0001c0001t0001g0190 a0001c0001t0001g0191 others(6): Show a0001c0001t0001g0139 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0252 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0065	9	308	0.0292	c.386 others(8): Show c.386-1024C>A		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12660878	G G	A A	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18954.hp2 NA18981.hp2 others(4): Show NA18943.hp2 NA18954.hp2 NA18981.hp2 NA18990.hp1 NA18995.hp2 NA19005.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0088 a0001c0001t0001g0147 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0088 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0194 a0001c0001t0001g0196	7	308	0.0227	c.386 others(7): Show c.386-913G>A		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661108	T T	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	308	0.0032	c.386 others(7): Show c.386-683T>C		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661289	A A	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	307	0.0033	c.386 others(7): Show c.386-502A>T		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661290	T T	G G	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.386 others(7): Show c.386-501T>G		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661313	T T	G G	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.386 others(7): Show c.386-478T>G		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661314	C C	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.386 others(7): Show c.386-477C>A		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661316	G G	C C	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.386 others(7): Show c.386-475G>C		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661319	T T	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.386 others(7): Show c.386-472T>A		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661324	C C	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.386 others(7): Show c.386-467C>A		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661325	A A	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.386 others(7): Show c.386-466A>T		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661334	G G	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.386 others(7): Show c.386-457G>T		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661336	A A	G G	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.386 others(7): Show c.386-455A>G		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661351	A A	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG04115.hp1 HG01255.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0110 a0001c0001t0001g0111	2	308	0.0065	c.386 others(7): Show c.386-440A>G		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661359	G G	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.386 others(7): Show c.386-432G>T		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661380	A A	C C	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.386 others(7): Show c.386-411A>C		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661381	T T	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.386 others(7): Show c.386-410T>A		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661494	G G	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	308	0.0032	c.386 others(7): Show c.386-297G>T		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661545	C C	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	308	0.0032	c.386 others(7): Show c.386-246C>G		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661620	G G	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0083 a0001c0001t0010g0083	1	308	0.0032	c.386 others(7): Show c.386-171G>A		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661639	T T	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp2 HG03492.hp1 others(1): Show HG02280.hp1 HG02965.hp2 HG03492.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0070 a0001c0001t0001g0229 a0001c0001t0002g0052 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0229 a0001c0001t0002g0052 a0001c0001t0011g0030	4	308	0.0130	c.386 others(7): Show c.386-152T>G		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661696	A A	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.386 others(6): Show c.386-95A>T		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661792	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.387 others(3): Show c.387T>G	p.Asp others(6): Show p.Asp129Glu	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	849/2027	387/1224	129/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661796	T T	A A	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.391 others(3): Show c.391T>A	p.Tyr others(6): Show p.Tyr131Asn	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	853/2027	391/1224	131/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661797	A A	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.392 others(3): Show c.392A>G	p.Tyr others(6): Show p.Tyr131Cys	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	854/2027	392/1224	131/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661798	C C	G G	stop_gained stop_gained	HIGH	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.393 others(3): Show c.393C>G	p.Tyr others(4): Show p.Tyr131*	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	855/2027	393/1224	131/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661799	C C	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.394 others(3): Show c.394C>G	p.His others(6): Show p.His132Asp	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	856/2027	394/1224	132/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661800	A A	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.395 others(3): Show c.395A>G	p.His others(6): Show p.His132Arg	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	857/2027	395/1224	132/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661801	T T	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.396 others(3): Show c.396T>G	p.His others(6): Show p.His132Gln	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	858/2027	396/1224	132/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661804	C C	G G	synonymous_variant synonymous_variant	LOW	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.399 others(3): Show c.399C>G	p.Gly others(6): Show p.Gly133Gly	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	861/2027	399/1224	133/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661805	C C	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.400 others(3): Show c.400C>G	p.Leu others(6): Show p.Leu134Val	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	862/2027	400/1224	134/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661806	T T	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.401 others(3): Show c.401T>G	p.Leu others(6): Show p.Leu134Arg	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	863/2027	401/1224	134/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661808	T T	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.403 others(3): Show c.403T>G	p.Cys others(6): Show p.Cys135Gly	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	865/2027	403/1224	135/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661810	C C	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.405 others(3): Show c.405C>G	p.Cys others(6): Show p.Cys135Trp	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	867/2027	405/1224	135/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661811	A A	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.406 others(3): Show c.406A>G	p.Asn others(6): Show p.Asn136Asp	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	868/2027	406/1224	136/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661812	A A	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.407 others(3): Show c.407A>G	p.Asn others(6): Show p.Asn136Ser	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	869/2027	407/1224	136/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661813	T T	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.408 others(3): Show c.408T>G	p.Asn others(6): Show p.Asn136Lys	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	870/2027	408/1224	136/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661817	C C	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.412 others(3): Show c.412C>G	p.Leu others(6): Show p.Leu138Val	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	874/2027	412/1224	138/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661823	C C	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.418 others(3): Show c.418C>G	p.Arg others(6): Show p.Arg140Gly	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	880/2027	418/1224	140/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661825	G G	T T	synonymous_variant synonymous_variant	LOW	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.420 others(3): Show c.420G>T	p.Arg others(6): Show p.Arg140Arg	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	882/2027	420/1224	140/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661827	A A	C C	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.422 others(3): Show c.422A>C	p.Glu others(6): Show p.Glu141Ala	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	884/2027	422/1224	141/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12662017	A A	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01109.hp1 others(46): Show HG00323.hp2 HG00642.hp1 HG01109.hp1 HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA19068.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0001 a0001c0002t0004 a0001c0002t0012 a0001c0003t0001 a0001c0003t0004 a0001c0003t0009 a0001c0006t0004	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 others(46): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0003g0035 a0001c0001t0011g0030 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0012g0039 a0001c0003t0001g0053 a0001c0003t0001g0142 a0001c0003t0001g0175 a0001c0003t0001g0200 a0001c0003t0004g0036 a0001c0003t0009g0059 a0001c0006t0004g0038	49	308	0.1591	c.449 others(7): Show c.449+163A>G		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12662035	A A	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0039 a0001c0002t0012g0039	1	308	0.0032	c.449 others(7): Show c.449+181A>G		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12662062	T T	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG02723.hp1 others(7): Show HG01109.hp1 HG02630.hp2 HG02723.hp1 HG02896.hp1 HG02976.hp2 HG03098.hp2 HG03471.hp2 HG03492.hp1 NA19030.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0006t0004	a0001c0001t0001g0070 a0001c0001t0002g0050 a0001c0001t0011g0030 others(7): Show a0001c0001t0001g0070 a0001c0001t0002g0050 a0001c0001t0011g0030 a0001c0002t0001g0225 a0001c0003t0001g0053 a0001c0003t0001g0142 a0001c0003t0001g0175 a0001c0003t0001g0200 a0001c0003t0004g0036 a0001c0006t0004g0038	10	308	0.0325	c.449 others(7): Show c.449+208T>G		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12662243	G G	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	308	0.0032	c.449 others(7): Show c.449+389G>A		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12662323	T T	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02055.hp2 HG02559.hp1 others(1): Show HG00642.hp1 HG02055.hp2 HG02559.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0012 a0001c0001t0001 a0001c0001t0002 a0001c0002t0012	a0001c0001t0001g0139 a0001c0001t0001g0190 a0001c0001t0002g0051 others(1): Show a0001c0001t0001g0139 a0001c0001t0001g0190 a0001c0001t0002g0051 a0001c0002t0012g0039	4	308	0.0130	c.449 others(7): Show c.449+469T>C		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12662371	G G	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	308	0.0032	c.449 others(7): Show c.449+517G>T		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12662400	C C	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00741.hp2 others(69): Show HG00323.hp2 HG00642.hp1 HG00741.hp2 HG01109.hp1 HG01175.hp2 HG01261.hp2 HG01358.hp1 HG01884.hp1 HG01884.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03579.hp2 HG03710.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18946.hp1 NA18947.hp2 NA18956.hp1 NA18957.hp1 NA18962.hp1 NA18975.hp1 NA18980.hp2 NA18985.hp2 NA18994.hp1 NA18995.hp1 NA19030.hp2 NA19054.hp1 NA19063.hp1 NA19068.hp1 NA19079.hp2 NA19088.hp1 NA19089.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0001 a0001c0002t0004 a0001c0002t0012 a0001c0003t0001 a0001c0003t0004 a0001c0003t0009 a0001c0006t0004	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0028 others(64): Show a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0003g0035 a0001c0001t0011g0030 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0012g0039 a0001c0003t0001g0053 a0001c0003t0001g0142 a0001c0003t0001g0175 a0001c0003t0001g0200 a0001c0003t0004g0036 a0001c0003t0009g0059 a0001c0006t0004g0038	72	308	0.2338	c.449 others(7): Show c.449+546C>G		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/3				chr1	TogoVar
AADACL4_chr1_12639085_12672076	12662729	C C	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0225	1	308	0.0032	c.449 others(7): Show c.449+875C>T		AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/3				chr1	TogoVar

Search by Variant

Search

Search Results