Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
AQP5_chr12_49956872_49970682	49962223	A A	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.206 others(3): Show c.206A>C	p.Asn others(5): Show p.Asn69Thr	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	352/1449	206/798	69/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962224	C C	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.207 others(3): Show c.207C>A	p.Asn others(5): Show p.Asn69Lys	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	353/1449	207/798	69/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962228	G G	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.211 others(3): Show c.211G>T	p.Ala others(5): Show p.Ala71Ser	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	357/1449	211/798	71/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962231	A A	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.214 others(3): Show c.214A>T	p.Ile others(5): Show p.Ile72Phe	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	360/1449	214/798	72/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962241	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.224 others(3): Show c.224C>T	p.Ala others(5): Show p.Ala75Val	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	370/1449	224/798	75/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962244	T T	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.227 others(3): Show c.227T>A	p.Leu others(5): Show p.Leu76His	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	373/1449	227/798	76/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962264	T T	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.247 others(3): Show c.247T>C	p.Ser others(5): Show p.Ser83Pro	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	393/1449	247/798	83/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962268	T T	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.251 others(3): Show c.251T>G	p.Leu others(5): Show p.Leu84Arg	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	397/1449	251/798	84/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49962271	T T	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0116 a0007c0009t0001g0116	1	466	0.0022	c.254 others(3): Show c.254T>G	p.Leu others(5): Show p.Leu85Arg	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/4	400/1449	254/798	85/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49963499	A A	G G	missense_variant missense_variant	MODERATE	NA18992.hp1 NA18992.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0004 a0006c0008t0002g0004	1	466	0.0022	c.371 others(3): Show c.371A>G	p.Asn others(6): Show p.Asn124Ser	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	2/4	517/1449	371/798	124/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49963588	C C	T T	missense_variant missense_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0077 a0003c0007t0001g0077	1	466	0.0022	c.460 others(3): Show c.460C>T	p.Arg others(6): Show p.Arg154Cys	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	2/4	606/1449	460/798	154/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49964141	C C	T T	missense_variant missense_variant	MODERATE	NA18952.hp2 NA18952.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0010 a0005c0006t0001g0010	1	466	0.0022	c.578 others(3): Show c.578C>T	p.Ala others(6): Show p.Ala193Val	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	3/4	724/1449	578/798	193/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49965013	G G	A A	missense_variant missense_variant	MODERATE	NA19088.hp1 NA19088.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0003 a0004c0005t0001g0003	1	466	0.0022	c.634 others(3): Show c.634G>A	p.Val others(6): Show p.Val212Met	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	4/4	780/1449	634/798	212/265	chr12	TogoVar
AQP5_chr12_49956872_49970682	49965118	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp2 HG03486.hp2 HG02109.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0058 a0002c0003t0001g0144 a0002c0003t0001g0058 a0002c0003t0001g0144	2	466	0.0043	c.739 others(3): Show c.739G>A	p.Glu others(6): Show p.Glu247Lys	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	4/4	885/1449	739/798	247/265	chr12	TogoVar
AQP6_chr12_49967947_49982139	49973240	A A	G G	missense_variant missense_variant	MODERATE	HG02135.hp1 HG02135.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0001 a0006c0010t0001g0001	1	458	0.0022	c.67A others(2): Show c.67A>G	p.Ile others(5): Show p.Ile23Val	AQP6	ENSG00000086159.14	transcript	ENST00000315520.10	protein_coding	1/4	294/2544	67/849	23/282	chr12	TogoVar
AQP6_chr12_49967947_49982139	49973244	G G	T T	missense_variant missense_variant	MODERATE	HG02976.hp1 HG04115.hp2 HG02976.hp1 HG04115.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0003 a0004c0006t0001 a0004c0006t0003	a0004c0006t0001g0001 a0004c0006t0003g0012 a0004c0006t0001g0001 a0004c0006t0003g0012	2	458	0.0044	c.71G others(2): Show c.71G>T	p.Ser others(5): Show p.Ser24Ile	AQP6	ENSG00000086159.14	transcript	ENST00000315520.10	protein_coding	1/4	298/2544	71/849	24/282	chr12	TogoVar
AQP6_chr12_49967947_49982139	49973430	C C	T T	missense_variant missense_variant	MODERATE	HG03017.hp1 HG03017.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0001 a0005c0009t0001g0001	1	458	0.0022	c.257 others(3): Show c.257C>T	p.Thr others(5): Show p.Thr86Met	AQP6	ENSG00000086159.14	transcript	ENST00000315520.10	protein_coding	1/4	484/2544	257/849	86/282	chr12	TogoVar
AQP6_chr12_49967947_49982139	49974417	C C	G G	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02451.hp1 HG02895.hp1 others(4): Show HG02257.hp2 HG02451.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp2 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	7	458	0.0153	c.496 others(3): Show c.496C>G	p.Arg others(6): Show p.Arg166Gly	AQP6	ENSG00000086159.14	transcript	ENST00000315520.10	protein_coding	2/4	723/2544	496/849	166/282	chr12	TogoVar
AQP6_chr12_49967947_49982139	49975522	G G	A A	missense_variant missense_variant	MODERATE	HG00597.hp2 HG00642.hp1 HG00735.hp2 others(52): Show HG00597.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01081.hp2 HG01109.hp1 HG01358.hp1 HG01361.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02723.hp1 HG02809.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18941.hp1 NA18944.hp2 NA18954.hp1 NA18964.hp2 NA18987.hp1 NA18992.hp2 NA18994.hp1 NA19007.hp2 NA19065.hp1 NA19067.hp2 NA19074.hp1 NA19075.hp1 NA19081.hp1 NA19085.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0022 a0002c0007t0006	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0002g0001 others(9): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0010 a0002c0002t0002g0019 a0002c0002t0002g0024 a0002c0002t0005g0001 a0002c0002t0006g0003 a0002c0002t0022g0003 a0002c0007t0006g0003	55	458	0.1201	c.700 others(3): Show c.700G>A	p.Val others(6): Show p.Val234Ile	AQP6	ENSG00000086159.14	transcript	ENST00000315520.10	protein_coding	4/4	927/2544	700/849	234/282	chr12	TogoVar
AQP7B_chr2_94582311_94609628	94594832	C C	G G	missense_variant missense_variant	MODERATE	HG02074.hp1 HG02083.hp2 NA18944.hp2 HG02074.hp1 HG02083.hp2 NA18944.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0032 a0004c0006t0001g0181 a0004c0006t0001g0218 a0004c0006t0001g0032 a0004c0006t0001g0181 a0004c0006t0001g0218	3	384	0.0078	c.115 others(3): Show c.115C>G	p.Arg others(5): Show p.Arg39Gly	AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	3/8	239/1220	115/1041	39/346	chr2	TogoVar
AQP7B_chr2_94582311_94609628	94594859	A A	C C	missense_variant missense_variant	MODERATE	NA19003.hp1 NA19003.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0151 a0007c0015t0001g0151	1	384	0.0026	c.142 others(3): Show c.142A>C	p.Thr others(5): Show p.Thr48Pro	AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	3/8	266/1220	142/1041	48/346	chr2	TogoVar
AQP7B_chr2_94582311_94609628	94594860	C C	A A	missense_variant missense_variant	MODERATE	NA19003.hp1 NA19003.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0151 a0007c0015t0001g0151	1	384	0.0026	c.143 others(3): Show c.143C>A	p.Thr others(5): Show p.Thr48Lys	AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	3/8	267/1220	143/1041	48/346	chr2	TogoVar
AQP7B_chr2_94582311_94609628	94594862	T T	C C	missense_variant missense_variant	MODERATE	NA19003.hp1 NA19003.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0151 a0007c0015t0001g0151	1	384	0.0026	c.145 others(3): Show c.145T>C	p.Tyr others(5): Show p.Tyr49His	AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	3/8	269/1220	145/1041	49/346	chr2	TogoVar
AQP7B_chr2_94582311_94609628	94603060	A A	G G	missense_variant missense_variant	MODERATE	HG02027.hp2 HG03831.hp1 HG04204.hp2 HG02027.hp2 HG03831.hp1 HG04204.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0001 a0005c0005t0001g0029 a0005c0005t0001g0001 a0005c0005t0001g0029	3	384	0.0078	c.304 others(3): Show c.304A>G	p.Thr others(6): Show p.Thr102Ala	AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	5/8	428/1220	304/1041	102/346	chr2	TogoVar
AQP7B_chr2_94582311_94609628	94603117	C C	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0001 a0011c0009t0001	a0011c0009t0001g0119 a0011c0009t0001g0119	1	384	0.0026	c.361 others(3): Show c.361C>A	p.Leu others(6): Show p.Leu121Met	AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	5/8	485/1220	361/1041	121/346	chr2	TogoVar
AQP7B_chr2_94582311_94609628	94603394	C C	T T	missense_variant missense_variant	MODERATE	HG02523.hp1 NA18941.hp2 NA19058.hp2 others(1): Show HG02523.hp1 NA18941.hp2 NA19058.hp2 NA19080.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0045 a0003c0003t0001g0270 a0003c0003t0001g0279 a0003c0003t0001g0045 a0003c0003t0001g0270 a0003c0003t0001g0279	4	384	0.0104	c.430 others(3): Show c.430C>T	p.His others(6): Show p.His144Tyr	AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	6/8	554/1220	430/1041	144/346	chr2	TogoVar
AQP7B_chr2_94582311_94609628	94603748	A A	G G	missense_variant missense_variant	MODERATE	HG02922.hp1 HG02922.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0007 a0008c0013t0001g0007	1	384	0.0026	c.574 others(3): Show c.574A>G	p.Thr others(6): Show p.Thr192Ala	AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	7/8	698/1220	574/1041	192/346	chr2	TogoVar
AQP7B_chr2_94582311_94609628	94603857	C C	T T	missense_variant missense_variant	MODERATE	NA18985.hp2 NA18985.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0123 a0010c0012t0001g0123	1	384	0.0026	c.683 others(3): Show c.683C>T	p.Ala others(6): Show p.Ala228Val	AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	7/8	807/1220	683/1041	228/346	chr2	TogoVar
AQP7B_chr2_94582311_94609628	94604364	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02109.hp2 HG02965.hp2 others(5): Show HG01884.hp1 HG02109.hp2 HG02965.hp2 HG03130.hp2 HG03195.hp2 HG03516.hp1 HG03579.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0198 others(1): Show a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0198 a0002c0002t0001g0221	8	384	0.0208	c.832 others(3): Show c.832G>A	p.Val others(6): Show p.Val278Ile	AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	8/8	956/1220	832/1041	278/346	chr2	TogoVar
AQP7B_chr2_94582311_94609628	94604517	T T	C C	missense_variant missense_variant	MODERATE	NA19065.hp2 NA19081.hp1 NA19065.hp2 NA19081.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0287 a0006c0008t0001g0288 a0006c0008t0001g0287 a0006c0008t0001g0288	2	384	0.0052	c.985 others(3): Show c.985T>C	p.Ser others(6): Show p.Ser329Pro	AQP7B	ENSG00000259916.2	transcript	ENST00000561882.2	protein_coding	8/8	1109/1220	985/1041	329/346	chr2	TogoVar
AQP7_chr9_33378191_33407568	33385136	C C	T T	missense_variant missense_variant	MODERATE	HG01496.hp1 HG02055.hp2 HG02109.hp1 others(18): Show HG01496.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0012 a0002c0002 a0008c0012	a0002c0002t0001 a0002c0002t0010 a0008c0012t0001 a0002c0002t0001 a0002c0002t0010 a0008c0012t0001	a0002c0002t0001g0002 a0002c0002t0001g0048 a0002c0002t0001g0061 others(12): Show a0002c0002t0001g0002 a0002c0002t0001g0048 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0167 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0010g0045 a0002c0002t0010g0046 a0002c0002t0010g0047 a0008c0012t0001g0320	21	438	0.0480	c.898 others(3): Show c.898G>A	p.Val others(6): Show p.Val300Ile	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	8/8	1119/3064	898/1029	300/342	chr9	TogoVar
AQP7_chr9_33378191_33407568	33385243	C C	A A	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00735.hp2 HG01123.hp1 others(9): Show HG00323.hp2 HG00735.hp2 HG01123.hp1 HG01943.hp1 HG04204.hp2 NA18968.hp2 NA18974.hp1 NA19001.hp1 NA19003.hp1 NA19010.hp1 NA19011.hp1 NA19054.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0011 a0003c0004t0003g0031 a0003c0004t0003g0104 others(6): Show a0003c0004t0003g0011 a0003c0004t0003g0031 a0003c0004t0003g0104 a0003c0004t0003g0196 a0003c0004t0003g0262 a0003c0004t0003g0271 a0003c0004t0003g0276 a0003c0004t0003g0280 a0003c0004t0003g0281	12	438	0.0274	c.791 others(3): Show c.791G>T	p.Gly others(6): Show p.Gly264Val	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	8/8	1012/3064	791/1029	264/342	chr9	TogoVar
AQP7_chr9_33378191_33407568	33385273	C C	A A	missense_variant missense_variant	MODERATE	NA18997.hp1 NA18997.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0022 a0009c0009t0022	a0009c0009t0022g0209 a0009c0009t0022g0209	1	438	0.0023	c.761 others(3): Show c.761G>T	p.Trp others(6): Show p.Trp254Leu	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	8/8	982/3064	761/1029	254/342	chr9	TogoVar
AQP7_chr9_33378191_33407568	33385274	A A	C C	missense_variant missense_variant	MODERATE	NA18997.hp1 NA18997.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0022 a0009c0009t0022	a0009c0009t0022g0209 a0009c0009t0022g0209	1	438	0.0023	c.760 others(3): Show c.760T>G	p.Trp others(6): Show p.Trp254Gly	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	8/8	981/3064	760/1029	254/342	chr9	TogoVar
AQP7_chr9_33378191_33407568	33385275	C C	A A	missense_variant missense_variant	MODERATE	NA18997.hp1 NA18997.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0022 a0009c0009t0022	a0009c0009t0022g0209 a0009c0009t0022g0209	1	438	0.0023	c.759 others(3): Show c.759G>T	p.Trp others(6): Show p.Trp253Cys	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	8/8	980/3064	759/1029	253/342	chr9	TogoVar
AQP7_chr9_33378191_33407568	33385830	C C	T T	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02698.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0148 a0010c0010t0001g0148	1	438	0.0023	c.562 others(3): Show c.562G>A	p.Ala others(6): Show p.Ala188Thr	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	7/8	783/3064	562/1029	188/342	chr9	TogoVar
AQP7_chr9_33378191_33407568	33386097	A A	T T	missense_variant missense_variant	MODERATE	NA18997.hp1 NA18997.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0022 a0009c0009t0022	a0009c0009t0022g0209 a0009c0009t0022g0209	1	438	0.0023	c.505 others(3): Show c.505T>A	p.Trp others(6): Show p.Trp169Arg	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	6/8	726/3064	505/1029	169/342	chr9	TogoVar
AQP7_chr9_33378191_33407568	33386117	A A	T T	missense_variant missense_variant	MODERATE	NA18997.hp1 NA18997.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0022 a0009c0009t0022	a0009c0009t0022g0209 a0009c0009t0022g0209	1	438	0.0023	c.485 others(3): Show c.485T>A	p.Leu others(6): Show p.Leu162His	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	6/8	706/3064	485/1029	162/342	chr9	TogoVar
AQP7_chr9_33378191_33407568	33386470	C C	T T	missense_variant missense_variant	MODERATE	NA18997.hp1 NA18997.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0022 a0009c0009t0022	a0009c0009t0022g0209 a0009c0009t0022g0209	1	438	0.0023	c.340 others(3): Show c.340G>A	p.Val others(6): Show p.Val114Ile	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	5/8	561/3064	340/1029	114/342	chr9	TogoVar
AQP7_chr9_33378191_33407568	33386493	C C	T T	missense_variant missense_variant	MODERATE	NA18969.hp2 NA18977.hp2 NA19070.hp1 NA18969.hp2 NA18977.hp2 NA19070.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0023 a0006c0007t0001 a0006c0007t0023	a0006c0007t0001g0236 a0006c0007t0001g0237 a0006c0007t0023g0219 a0006c0007t0001g0236 a0006c0007t0001g0237 a0006c0007t0023g0219	3	438	0.0069	c.317 others(3): Show c.317G>A	p.Arg others(6): Show p.Arg106His	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	5/8	538/3064	317/1029	106/342	chr9	TogoVar
AQP7_chr9_33378191_33407568	33386978	G G	A A	missense_variant missense_variant	MODERATE	HG03041.hp2 HG03041.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0320 a0008c0012t0001g0320	1	438	0.0023	c.259 others(3): Show c.259C>T	p.Arg others(5): Show p.Arg87Cys	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	4/8	480/3064	259/1029	87/342	chr9	TogoVar
AQP7_chr9_33378191_33407568	33386987	C C	T T	missense_variant missense_variant	MODERATE	NA19003.hp2 NA19003.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0131 a0007c0008t0001g0131	1	438	0.0023	c.250 others(3): Show c.250G>A	p.Val others(5): Show p.Val84Met	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	4/8	471/3064	250/1029	84/342	chr9	TogoVar
AQP7_chr9_33378191_33407568	33387062	C C	G G	missense_variant missense_variant	MODERATE	HG00280.hp2 NA18972.hp1 NA18987.hp2 others(4): Show HG00280.hp2 NA18972.hp1 NA18987.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19080.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0094 a0004c0005t0001g0121 a0004c0005t0001g0126 others(4): Show a0004c0005t0001g0094 a0004c0005t0001g0121 a0004c0005t0001g0126 a0004c0005t0001g0135 a0004c0005t0001g0139 a0004c0005t0001g0154 a0004c0005t0001g0318	7	438	0.0160	c.175 others(3): Show c.175G>C	p.Val others(5): Show p.Val59Leu	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	4/8	396/3064	175/1029	59/342	chr9	TogoVar
AQP7_chr9_33378191_33407568	33395188	G G	A A	missense_variant missense_variant	MODERATE	HG00544.hp2 NA18612.hp2 NA19055.hp2 others(1): Show HG00544.hp2 NA18612.hp2 NA19055.hp2 NA19084.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0005 a0005c0006t0001 a0005c0006t0005	a0005c0006t0001g0080 a0005c0006t0001g0327 a0005c0006t0005g0079 others(1): Show a0005c0006t0001g0080 a0005c0006t0001g0327 a0005c0006t0005g0079 a0005c0006t0005g0081	4	438	0.0091	c.34C others(2): Show c.34C>T	p.Arg others(5): Show p.Arg12Cys	AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding	3/8	255/3064	34/1029	12/342	chr9	TogoVar
AQP8_chr16_25211947_25233932	25217265	G G	A A	missense_variant missense_variant	MODERATE	HG01934.hp1 HG02055.hp1 HG01934.hp1 HG02055.hp1	a0004 a0005 a0004 a0005	a0004c0010 a0005c0009 a0004c0010 a0005c0009	a0004c0010t0003 a0005c0009t0002 a0004c0010t0003 a0005c0009t0002	a0004c0010t0003g0205 a0005c0009t0002g0081 a0004c0010t0003g0205 a0005c0009t0002g0081	2	420	0.0048	c.80G others(2): Show c.80G>A	p.Arg others(5): Show p.Arg27Gln	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding	2/6	179/1325	80/786	27/261	chr16	TogoVar
AQP8_chr16_25211947_25233932	25217279	G G	A A	missense_variant missense_variant	MODERATE	HG01934.hp2 HG01934.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0087 a0008c0011t0001g0087	1	420	0.0024	c.94G others(2): Show c.94G>A	p.Glu others(5): Show p.Glu32Lys	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding	2/6	193/1325	94/786	32/261	chr16	TogoVar
AQP8_chr16_25211947_25233932	25227099	G G	A A	missense_variant missense_variant	MODERATE	NA20752.hp1 NA20752.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0003 a0007c0014t0003	a0007c0014t0003g0119 a0007c0014t0003g0119	1	420	0.0024	c.634 others(3): Show c.634G>A	p.Ala others(6): Show p.Ala212Thr	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding	5/6	733/1325	634/786	212/261	chr16	TogoVar
AQP8_chr16_25211947_25233932	25228452	T T	C C	missense_variant missense_variant	MODERATE	NA18983.hp1 NA18983.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0002 a0006c0015t0002	a0006c0015t0002g0114 a0006c0015t0002g0114	1	420	0.0024	c.746 others(3): Show c.746T>C	p.Ile others(6): Show p.Ile249Thr	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding	6/6	845/1325	746/786	249/261	chr16	TogoVar
AQP8_chr16_25211947_25233932	25228484	G G	C C	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(178): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19075.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0007	a0002c0002 a0002c0003 a0002c0006 others(4): Show a0002c0002 a0002c0003 a0002c0006 a0002c0007 a0005c0009 a0006c0015 a0007c0014	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0003t0002 a0002c0003t0003 a0002c0006t0002 a0002c0007t0002 a0005c0009t0002 a0006c0015t0002 a0007c0014t0003	a0002c0002t0001g0118 a0002c0002t0002g0004 a0002c0002t0002g0008 others(92): Show a0002c0002t0001g0118 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0044 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0057 a0002c0002t0002g0065 a0002c0002t0002g0073 a0002c0002t0002g0079 a0002c0002t0002g0099 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0129 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0145 a0002c0002t0002g0147 a0002c0002t0002g0163 a0002c0002t0002g0165 a0002c0002t0002g0172 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0177 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0192 a0002c0002t0002g0204 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0003g0005 a0002c0002t0003g0013 a0002c0002t0003g0015 a0002c0002t0003g0037 a0002c0002t0003g0042 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0056 a0002c0002t0003g0071 a0002c0002t0003g0076 a0002c0002t0003g0090 a0002c0002t0003g0104 a0002c0002t0003g0127 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0155 a0002c0002t0003g0156 a0002c0002t0003g0158 a0002c0002t0003g0160 a0002c0002t0003g0173 a0002c0002t0003g0182 a0002c0002t0004g0025 a0002c0002t0004g0038 a0002c0002t0004g0086 a0002c0002t0004g0130 a0002c0003t0002g0168 a0002c0003t0003g0051 a0002c0003t0003g0166 a0002c0003t0003g0167 a0002c0003t0003g0169 a0002c0003t0003g0170 a0002c0006t0002g0070 a0002c0006t0002g0094 a0002c0006t0002g0144 a0002c0007t0002g0022 a0002c0007t0002g0121 a0005c0009t0002g0081 a0006c0015t0002g0114 a0007c0014t0003g0119	181	420	0.4310	c.778 others(3): Show c.778G>C	p.Ala others(6): Show p.Ala260Pro	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding	6/6	877/1325	778/786	260/261	chr16	TogoVar
AQP8_chr16_25211947_25233932	25228488	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp2 HG01261.hp1 others(3): Show HG01167.hp1 HG01169.hp2 HG01261.hp1 HG01361.hp2 HG01517.hp2 HG02698.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0003 a0003c0005t0001 a0003c0005t0003	a0003c0005t0001g0003 a0003c0005t0001g0050 a0003c0005t0001g0112 others(2): Show a0003c0005t0001g0003 a0003c0005t0001g0050 a0003c0005t0001g0112 a0003c0005t0001g0164 a0003c0005t0003g0026	6	420	0.0143	c.782 others(3): Show c.782G>A	p.Arg others(6): Show p.Arg261Gln	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding	6/6	881/1325	782/786	261/261	chr16	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)