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
ACOT13_chr6_24662077_24710046	24697987	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00280.hp2 HG00642.hp2 others(38): Show HG00140.hp2 HG00280.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00741.hp1 HG01070.hp1 HG01106.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02074.hp2 HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02896.hp2 HG02922.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG03710.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18954.hp1 NA19001.hp2 NA19065.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 others(5): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0016 a0001c0002t0022 a0001c0002t0026 a0001c0002t0030 a0001c0002t0031	a0001c0002t0002g0042 a0001c0002t0002g0263 a0001c0002t0002g0264 others(32): Show a0001c0002t0002g0042 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0005g0012 a0001c0002t0005g0261 a0001c0002t0005g0262 a0001c0002t0005g0265 a0001c0002t0005g0267 a0001c0002t0005g0268 a0001c0002t0005g0271 a0001c0002t0005g0275 a0001c0002t0005g0276 a0001c0002t0005g0277 a0001c0002t0005g0278 a0001c0002t0005g0284 a0001c0002t0005g0285 a0001c0002t0008g0017 a0001c0002t0008g0021 a0001c0002t0008g0043 a0001c0002t0008g0062 a0001c0002t0008g0162 a0001c0002t0008g0266 a0001c0002t0008g0269 a0001c0002t0008g0272 a0001c0002t0008g0273 a0001c0002t0008g0274 a0001c0002t0016g0168 a0001c0002t0016g0281 a0001c0002t0016g0282 a0001c0002t0016g0283 a0001c0002t0022g0021 a0001c0002t0022g0063 a0001c0002t0026g0279 a0001c0002t0030g0064 a0001c0002t0031g0260	41	402	0.1020	c.186 others(3): Show c.186G>A	p.Thr others(5): Show p.Thr62Thr	ACOT13	ENSG00000112304.11	transcript	ENST00000230048.5	protein_coding	2/3	373/4041	186/423	62/140	chr6	TogoVar
ACOT4_chr14_73586873_73600766	73592031	C C	A A	synonymous_variant synonymous_variant	LOW	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0003 a0002c0011t0001g0003	1	408	0.0025	c.72C others(2): Show c.72C>A	p.Arg others(5): Show p.Arg24Arg	ACOT4	ENSG00000177465.5	transcript	ENST00000326303.5	protein_coding	1/3	159/1465	72/1266	24/421	chr14	TogoVar
ACOT4_chr14_73586873_73600766	73592085	G G	A A	synonymous_variant synonymous_variant	LOW	NA18982.hp2 NA19065.hp2 NA18982.hp2 NA19065.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0006 a0001c0007t0001g0045 a0001c0007t0001g0006 a0001c0007t0001g0045	2	408	0.0049	c.126 others(3): Show c.126G>A	p.Lys others(5): Show p.Lys42Lys	ACOT4	ENSG00000177465.5	transcript	ENST00000326303.5	protein_coding	1/3	213/1465	126/1266	42/421	chr14	TogoVar
ACOT4_chr14_73586873_73600766	73592127	C C	T T	synonymous_variant synonymous_variant	LOW	NA18975.hp2 NA19080.hp2 NA18975.hp2 NA19080.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0001 a0005c0010t0001g0001	2	408	0.0049	c.168 others(3): Show c.168C>T	p.Ala others(5): Show p.Ala56Ala	ACOT4	ENSG00000177465.5	transcript	ENST00000326303.5	protein_coding	1/3	255/1465	168/1266	56/421	chr14	TogoVar
ACOT4_chr14_73586873_73600766	73592199	G G	C C	synonymous_variant synonymous_variant	LOW	HG02258.hp1 HG03139.hp1 HG02258.hp1 HG03139.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0055 a0002c0008t0001g0056 a0002c0008t0001g0055 a0002c0008t0001g0056	2	408	0.0049	c.240 others(3): Show c.240G>C	p.Leu others(5): Show p.Leu80Leu	ACOT4	ENSG00000177465.5	transcript	ENST00000326303.5	protein_coding	1/3	327/1465	240/1266	80/421	chr14	TogoVar
ACOT4_chr14_73586873_73600766	73593808	A A	T T	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00280.hp2 HG01069.hp2 others(11): Show HG00280.hp1 HG00280.hp2 HG01069.hp2 HG01255.hp2 HG01258.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG02129.hp1 HG02148.hp2 HG02602.hp1 HG02735.hp1 HG03239.hp1 HG04115.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0007 a0003c0004t0001g0026 a0003c0004t0001g0027 others(2): Show a0003c0004t0001g0007 a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0034 a0003c0004t0001g0035	14	408	0.0343	c.564 others(3): Show c.564A>T	p.Leu others(6): Show p.Leu188Leu	ACOT4	ENSG00000177465.5	transcript	ENST00000326303.5	protein_coding	2/3	651/1465	564/1266	188/421	chr14	TogoVar
ACOT4_chr14_73586873_73600766	73593811	T T	A A	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00280.hp2 HG01069.hp2 others(11): Show HG00280.hp1 HG00280.hp2 HG01069.hp2 HG01255.hp2 HG01258.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG02129.hp1 HG02148.hp2 HG02602.hp1 HG02735.hp1 HG03239.hp1 HG04115.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0007 a0003c0004t0001g0026 a0003c0004t0001g0027 others(2): Show a0003c0004t0001g0007 a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0034 a0003c0004t0001g0035	14	408	0.0343	c.567 others(3): Show c.567T>A	p.Ala others(6): Show p.Ala189Ala	ACOT4	ENSG00000177465.5	transcript	ENST00000326303.5	protein_coding	2/3	654/1465	567/1266	189/421	chr14	TogoVar
ACOT4_chr14_73586873_73600766	73595264	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(375): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0007 a0001c0013 others(9): Show a0001c0001 a0001c0007 a0001c0013 a0002c0002 a0002c0008 a0003c0004 a0004c0005 a0005c0006 a0005c0010 a0006c0009 a0007c0014 a0008c0012	a0001c0001t0001 a0001c0007t0001 a0001c0013t0001 others(11): Show a0001c0001t0001 a0001c0007t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0008t0001 a0003c0004t0001 a0004c0005t0001 a0005c0006t0001 a0005c0010t0001 a0006c0009t0001 a0007c0014t0001 a0008c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(68): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0007t0001g0006 a0001c0007t0001g0045 a0001c0013t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0002g0002 a0002c0002t0002g0016 a0002c0002t0002g0040 a0002c0002t0003g0047 a0002c0008t0001g0055 a0002c0008t0001g0056 a0003c0004t0001g0007 a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0034 a0003c0004t0001g0035 a0004c0005t0001g0010 a0004c0005t0001g0017 a0004c0005t0001g0043 a0005c0006t0001g0001 a0005c0006t0001g0008 a0005c0010t0001g0001 a0006c0009t0001g0012 a0007c0014t0001g0049 a0008c0012t0001g0015	378	408	0.9265	c.876 others(3): Show c.876T>C	p.Ile others(6): Show p.Ile292Ile	ACOT4	ENSG00000177465.5	transcript	ENST00000326303.5	protein_coding	3/3	963/1465	876/1266	292/421	chr14	TogoVar
ACOT4_chr14_73586873_73600766	73595285	C C	T T	synonymous_variant synonymous_variant	LOW	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0001 a0001c0013t0001g0001	1	408	0.0025	c.897 others(3): Show c.897C>T	p.Leu others(6): Show p.Leu299Leu	ACOT4	ENSG00000177465.5	transcript	ENST00000326303.5	protein_coding	3/3	984/1465	897/1266	299/421	chr14	TogoVar
ACOT6_chr14_73607517_73624888	73612796	C C	T T	synonymous_variant synonymous_variant	LOW	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0014 a0002c0015t0001g0014	1	394	0.0025	c.225 others(3): Show c.225C>T	p.Leu others(5): Show p.Leu75Leu	ACOT6	ENSG00000205669.4	transcript	ENST00000645972.2	protein_coding	1/3	280/1370	225/1266	75/421	chr14	TogoVar
ACOT6_chr14_73607517_73624888	73619323	C C	G G	synonymous_variant synonymous_variant	LOW	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0002 a0002c0012t0001g0002	1	394	0.0025	c.750 others(3): Show c.750C>G	p.Ala others(6): Show p.Ala250Ala	ACOT6	ENSG00000205669.4	transcript	ENST00000645972.2	protein_coding	3/3	805/1370	750/1266	250/421	chr14	TogoVar
ACOT6_chr14_73607517_73624888	73619494	T T	C C	synonymous_variant synonymous_variant	LOW	NA18964.hp2 NA18964.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0001 a0010c0013t0001g0001	1	394	0.0025	c.921 others(3): Show c.921T>C	p.Ser others(6): Show p.Ser307Ser	ACOT6	ENSG00000205669.4	transcript	ENST00000645972.2	protein_coding	3/3	976/1370	921/1266	307/421	chr14	TogoVar
ACOT7_chr1_6259272_6398767	6264687	G G	A A	synonymous_variant synonymous_variant	LOW	HG02572.hp1 HG02886.hp1 HG02572.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0047 a0001c0003t0004g0205 a0001c0003t0001g0047 a0001c0003t0004g0205	2	240	0.0083	c.102 others(4): Show c.1023C>T	p.Thr others(6): Show p.Thr341Thr	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	9/9	1391/1806	1023/1113	341/370	chr1	TogoVar
ACOT7_chr1_6259272_6398767	6264693	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0193 a0001c0007t0004g0193	1	240	0.0042	c.101 others(4): Show c.1017C>T	p.Pro others(6): Show p.Pro339Pro	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	9/9	1385/1806	1017/1113	339/370	chr1	TogoVar
ACOT7_chr1_6259272_6398767	6281249	C C	T T	synonymous_variant synonymous_variant	LOW	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0228 a0001c0005t0017g0228	1	240	0.0042	c.867 others(3): Show c.867G>A	p.Thr others(6): Show p.Thr289Thr	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	8/9	1235/1806	867/1113	289/370	chr1	TogoVar
ACOT7_chr1_6259272_6398767	6294895	G G	A A	synonymous_variant synonymous_variant	LOW	HG02055.hp2 HG02886.hp2 HG03209.hp2 others(4): Show HG02055.hp2 HG02886.hp2 HG03209.hp2 HG03453.hp2 HG06807.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0008t0003	a0001c0002t0002g0121 a0001c0002t0003g0147 a0001c0002t0003g0164 others(4): Show a0001c0002t0002g0121 a0001c0002t0003g0147 a0001c0002t0003g0164 a0001c0002t0003g0178 a0001c0002t0003g0187 a0001c0002t0004g0200 a0001c0008t0003g0149	7	240	0.0292	c.798 others(3): Show c.798C>T	p.Asp others(6): Show p.Asp266Asp	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	7/9	1166/1806	798/1113	266/370	chr1	TogoVar
ACOT7_chr1_6259272_6398767	6318547	G G	A A	synonymous_variant synonymous_variant	LOW	HG02717.hp1 HG02897.hp1 HG03209.hp2 HG02717.hp1 HG02897.hp1 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0003 a0001c0004t0010 a0001c0008t0003 a0001c0004t0003 a0001c0004t0010 a0001c0008t0003	a0001c0004t0003g0148 a0001c0004t0010g0150 a0001c0008t0003g0149 a0001c0004t0003g0148 a0001c0004t0010g0150 a0001c0008t0003g0149	3	240	0.0125	c.657 others(3): Show c.657C>T	p.Ser others(6): Show p.Ser219Ser	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	6/9	1025/1806	657/1113	219/370	chr1	TogoVar
ACOT7_chr1_6259272_6398767	6349836	G G	A A	synonymous_variant synonymous_variant	LOW	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0159 a0001c0009t0003g0159	1	240	0.0042	c.174 others(3): Show c.174C>T	p.Ala others(5): Show p.Ala58Ala	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	2/9	542/1806	174/1113	58/370	chr1	TogoVar
ACOT8_chr20_45836721_45862392	45848509	G G	A A	synonymous_variant synonymous_variant	LOW	NA18956.hp1 NA18969.hp2 NA18956.hp1 NA18969.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0042 a0001c0005t0001g0042	2	422	0.0047	c.429 others(3): Show c.429C>T	p.Pro others(6): Show p.Pro143Pro	ACOT8	ENSG00000101473.17	transcript	ENST00000217455.9	protein_coding	3/6	506/1154	429/960	143/319	chr20	TogoVar
ACOT9_chrX_23696055_23748276	23704718	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(21): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG02257.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02970.hp2 HG03195.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0013 others(5): Show a0001c0002t0001 a0001c0002t0010 a0001c0002t0013 a0001c0002t0016 a0001c0002t0017 a0001c0002t0029 a0001c0002t0030 a0001c0002t0049	a0001c0002t0001g0214 a0001c0002t0010g0002 a0001c0002t0010g0143 others(20): Show a0001c0002t0001g0214 a0001c0002t0010g0002 a0001c0002t0010g0143 a0001c0002t0010g0157 a0001c0002t0010g0164 a0001c0002t0010g0195 a0001c0002t0010g0277 a0001c0002t0010g0278 a0001c0002t0013g0012 a0001c0002t0013g0017 a0001c0002t0013g0041 a0001c0002t0013g0047 a0001c0002t0013g0083 a0001c0002t0013g0092 a0001c0002t0016g0011 a0001c0002t0016g0059 a0001c0002t0016g0064 a0001c0002t0017g0014 a0001c0002t0017g0015 a0001c0002t0017g0090 a0001c0002t0029g0028 a0001c0002t0030g0088 a0001c0002t0049g0123	24	309	0.0777	c.123 others(4): Show c.1234T>C	p.Leu others(6): Show p.Leu412Leu	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	15/16	1366/4318	1234/1347	412/448	chrX	TogoVar
ACOT9_chrX_23696055_23748276	23735935	G G	A A	synonymous_variant synonymous_variant	LOW	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0275 a0001c0009t0003g0275	1	309	0.0032	c.102 others(3): Show c.102C>T	p.Ile others(5): Show p.Ile34Ile	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	2/16	234/4318	102/1347	34/448	chrX	TogoVar
ACOX1_chr17_75936507_75984166	75948392	C C	A A	synonymous_variant synonymous_variant	LOW	HG01884.hp2 HG02055.hp1 HG02723.hp2 HG01884.hp2 HG02055.hp1 HG02723.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0014 a0002c0007t0014	a0002c0007t0014g0179 a0002c0007t0014g0180 a0002c0007t0014g0241 a0002c0007t0014g0179 a0002c0007t0014g0180 a0002c0007t0014g0241	3	344	0.0087	c.179 others(4): Show c.1794G>T	p.Leu others(6): Show p.Leu598Leu	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	13/14	1887/7317	1794/1983	598/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75949876	A A	G G	synonymous_variant synonymous_variant	LOW	HG00639.hp1 HG01069.hp1 HG01884.hp1 others(22): Show HG00639.hp1 HG01069.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0005 a0001c0003 a0001c0004 a0003c0005	a0001c0003t0012 a0001c0003t0024 a0001c0003t0044 others(10): Show a0001c0003t0012 a0001c0003t0024 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0047 a0001c0003t0048 a0001c0004t0008 a0001c0004t0053 a0003c0005t0017 a0003c0005t0025 a0003c0005t0054 a0003c0005t0055	a0001c0003t0012g0007 a0001c0003t0012g0008 a0001c0003t0012g0009 others(22): Show a0001c0003t0012g0007 a0001c0003t0012g0008 a0001c0003t0012g0009 a0001c0003t0012g0011 a0001c0003t0024g0120 a0001c0003t0024g0121 a0001c0003t0044g0137 a0001c0003t0045g0039 a0001c0003t0046g0012 a0001c0003t0047g0296 a0001c0003t0048g0013 a0001c0004t0008g0116 a0001c0004t0008g0127 a0001c0004t0008g0129 a0001c0004t0008g0130 a0001c0004t0008g0132 a0001c0004t0008g0133 a0001c0004t0053g0131 a0003c0005t0017g0036 a0003c0005t0017g0041 a0003c0005t0017g0042 a0003c0005t0025g0124 a0003c0005t0025g0135 a0003c0005t0054g0315 a0003c0005t0055g0157	25	344	0.0727	c.132 others(4): Show c.1320T>C	p.Asp others(6): Show p.Asp440Asp	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	10/14	1413/7317	1320/1983	440/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75949894	G G	A A	synonymous_variant synonymous_variant	LOW	HG03579.hp2 NA19030.hp1 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0319 a0001c0008t0004g0335 a0001c0008t0004g0319 a0001c0008t0004g0335	2	344	0.0058	c.130 others(4): Show c.1302C>T	p.Phe others(6): Show p.Phe434Phe	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	10/14	1395/7317	1302/1983	434/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75951454	G G	A A	synonymous_variant synonymous_variant	LOW	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0006 a0002c0017t0006	a0002c0017t0006g0274 a0002c0017t0006g0274	1	344	0.0029	c.106 others(4): Show c.1068C>T	p.Asn others(6): Show p.Asn356Asn	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	8/14	1161/7317	1068/1983	356/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75951568	T T	C C	synonymous_variant synonymous_variant	LOW	HG03579.hp2 NA19030.hp1 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0319 a0001c0008t0004g0335 a0001c0008t0004g0319 a0001c0008t0004g0335	2	344	0.0058	c.954 others(3): Show c.954A>G	p.Glu others(6): Show p.Glu318Glu	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	8/14	1047/7317	954/1983	318/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75953518	G G	A A	synonymous_variant synonymous_variant	LOW	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0039 a0001c0018t0039	a0001c0018t0039g0308 a0001c0018t0039g0308	1	344	0.0029	c.877 others(3): Show c.877C>T	p.Leu others(6): Show p.Leu293Leu	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	7/14	970/7317	877/1983	293/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75953528	A A	G G	synonymous_variant synonymous_variant	LOW	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0230 a0002c0011t0001g0230	1	344	0.0029	c.867 others(3): Show c.867T>C	p.Ala others(6): Show p.Ala289Ala	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	7/14	960/7317	867/1983	289/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75953591	C C	T T	synonymous_variant synonymous_variant	LOW	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0004 a0001c0010t0007g0004	1	344	0.0029	c.804 others(3): Show c.804G>A	p.Pro others(6): Show p.Pro268Pro	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	7/14	897/7317	804/1983	268/660	chr17	TogoVar
ACOX1_chr17_75936507_75984166	75955895	C C	T T	synonymous_variant synonymous_variant	LOW	HG01069.hp1 HG02486.hp1 HG02615.hp1 others(4): Show HG01069.hp1 HG02486.hp1 HG02615.hp1 HG02723.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0053 a0001c0004t0008 a0001c0004t0053	a0001c0004t0008g0116 a0001c0004t0008g0127 a0001c0004t0008g0129 others(4): Show a0001c0004t0008g0116 a0001c0004t0008g0127 a0001c0004t0008g0129 a0001c0004t0008g0130 a0001c0004t0008g0132 a0001c0004t0008g0133 a0001c0004t0053g0131	7	344	0.0204	c.591 others(3): Show c.591G>A	p.Gly others(6): Show p.Gly197Gly	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	5/14	684/7317	591/1983	197/660	chr17	TogoVar
ACOX2_chr3_58500136_58542190	58508944	G G	A A	synonymous_variant synonymous_variant	LOW	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0136 a0001c0016t0001g0136	1	364	0.0028	c.193 others(4): Show c.1932C>T	p.Asn others(6): Show p.Asn644Asn	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	14/15	2095/2297	1932/2046	644/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58526510	A A	G G	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00544.hp2 HG00621.hp1 others(113): Show HG00280.hp1 HG00544.hp2 HG00621.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp2 HG02055.hp1 HG02056.hp2 HG02132.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18964.hp2 NA18967.hp1 NA18972.hp1 NA18974.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19063.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0009 a0010	a0001c0002 a0001c0003 a0001c0004 others(9): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0003c0010 a0004c0011 a0005c0019 a0006c0015 a0009c0014 a0010c0013	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(16): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0006t0001 a0001c0006t0002 a0001c0008t0002 a0003c0010t0001 a0004c0011t0001 a0005c0019t0002 a0006c0015t0001 a0009c0014t0002 a0010c0013t0001	a0001c0002t0001g0003 a0001c0002t0001g0015 a0001c0002t0001g0063 others(108): Show a0001c0002t0001g0003 a0001c0002t0001g0015 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0260 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0004g0035 a0001c0002t0006g0090 a0001c0003t0002g0268 a0001c0003t0002g0269 a0001c0003t0002g0270 a0001c0003t0002g0271 a0001c0003t0002g0272 a0001c0003t0002g0273 a0001c0003t0002g0274 a0001c0003t0002g0275 a0001c0003t0002g0276 a0001c0003t0002g0277 a0001c0003t0002g0278 a0001c0003t0002g0279 a0001c0003t0002g0281 a0001c0003t0002g0282 a0001c0003t0002g0283 a0001c0003t0002g0284 a0001c0003t0002g0285 a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0002g0288 a0001c0004t0001g0037 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0047 a0001c0004t0001g0048 a0001c0004t0001g0049 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0101 a0001c0004t0001g0253 a0001c0004t0002g0051 a0001c0004t0002g0052 a0001c0005t0001g0262 a0001c0005t0001g0289 a0001c0005t0001g0290 a0001c0005t0002g0298 a0001c0005t0002g0301 a0001c0005t0002g0305 a0001c0005t0002g0306 a0001c0005t0002g0307 a0001c0005t0002g0308 a0001c0005t0003g0291 a0001c0005t0003g0292 a0001c0006t0001g0061 a0001c0006t0001g0062 a0001c0006t0002g0034 a0001c0006t0002g0302 a0001c0006t0002g0303 a0001c0006t0002g0304 a0001c0008t0002g0299 a0001c0008t0002g0300 a0003c0010t0001g0258 a0003c0010t0001g0259 a0004c0011t0001g0057 a0005c0019t0002g0266 a0006c0015t0001g0044 a0009c0014t0002g0297 a0010c0013t0001g0263	116	364	0.3187	c.130 others(4): Show c.1302T>C	p.Cys others(6): Show p.Cys434Cys	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	10/15	1465/2297	1302/2046	434/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58526558	T T	C C	synonymous_variant synonymous_variant	LOW	HG00735.hp2 HG00738.hp1 HG01106.hp1 others(19): Show HG00735.hp2 HG00738.hp1 HG01106.hp1 HG01109.hp2 HG01255.hp1 HG01516.hp2 HG02055.hp1 HG02280.hp2 HG02622.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0003 a0005c0019 a0009c0014 a0001c0003 a0005c0019 a0009c0014	a0001c0003t0002 a0005c0019t0002 a0009c0014t0002 a0001c0003t0002 a0005c0019t0002 a0009c0014t0002	a0001c0003t0002g0268 a0001c0003t0002g0269 a0001c0003t0002g0270 others(19): Show a0001c0003t0002g0268 a0001c0003t0002g0269 a0001c0003t0002g0270 a0001c0003t0002g0271 a0001c0003t0002g0272 a0001c0003t0002g0273 a0001c0003t0002g0274 a0001c0003t0002g0275 a0001c0003t0002g0276 a0001c0003t0002g0277 a0001c0003t0002g0278 a0001c0003t0002g0279 a0001c0003t0002g0281 a0001c0003t0002g0282 a0001c0003t0002g0283 a0001c0003t0002g0284 a0001c0003t0002g0285 a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0002g0288 a0005c0019t0002g0266 a0009c0014t0002g0297	22	364	0.0604	c.125 others(4): Show c.1254A>G	p.Ser others(6): Show p.Ser418Ser	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	10/15	1417/2297	1254/2046	418/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58526648	T T	C C	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00544.hp2 HG00621.hp1 others(60): Show HG00280.hp1 HG00544.hp2 HG00621.hp1 HG00733.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01243.hp2 HG01891.hp2 HG02056.hp2 HG02132.hp1 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03239.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18939.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18964.hp2 NA18967.hp1 NA18972.hp1 NA18974.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19043.hp2 NA19058.hp2 NA19063.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0006 a0001c0008 others(1): Show a0001c0002 a0001c0006 a0001c0008 a0003c0010	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0006t0001 a0001c0006t0002 a0001c0008t0002 a0003c0010t0001	a0001c0002t0001g0003 a0001c0002t0001g0015 a0001c0002t0001g0063 others(55): Show a0001c0002t0001g0003 a0001c0002t0001g0015 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0260 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0004g0035 a0001c0002t0006g0090 a0001c0006t0001g0061 a0001c0006t0001g0062 a0001c0006t0002g0034 a0001c0006t0002g0302 a0001c0006t0002g0303 a0001c0006t0002g0304 a0001c0008t0002g0299 a0001c0008t0002g0300 a0003c0010t0001g0258 a0003c0010t0001g0259	63	364	0.1731	c.116 others(4): Show c.1164A>G	p.Ala others(6): Show p.Ala388Ala	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	10/15	1327/2297	1164/2046	388/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58528896	C C	T T	synonymous_variant synonymous_variant	LOW	HG01243.hp2 HG03540.hp1 HG01243.hp2 HG03540.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0299 a0001c0008t0002g0300 a0001c0008t0002g0299 a0001c0008t0002g0300	2	364	0.0055	c.105 others(4): Show c.1053G>A	p.Leu others(6): Show p.Leu351Leu	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	9/15	1216/2297	1053/2046	351/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531772	C C	A A	synonymous_variant synonymous_variant	LOW	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.624 others(3): Show c.624G>T	p.Leu others(6): Show p.Leu208Leu	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	787/2297	624/2046	208/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531787	C C	A A	synonymous_variant synonymous_variant	LOW	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.609 others(3): Show c.609G>T	p.Leu others(6): Show p.Leu203Leu	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	772/2297	609/2046	203/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531793	A A	G G	synonymous_variant synonymous_variant	LOW	HG00733.hp1 HG01109.hp1 HG01243.hp1 others(20): Show HG00733.hp1 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01891.hp2 HG02258.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03834.hp2 HG06807.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0001c0006 a0001c0008 others(2): Show a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0004c0011	a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 others(6): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0006t0001 a0001c0006t0002 a0001c0008t0002 a0001c0009t0001 a0001c0009t0002 a0004c0011t0001	a0001c0005t0001g0262 a0001c0005t0001g0289 a0001c0005t0001g0290 others(19): Show a0001c0005t0001g0262 a0001c0005t0001g0289 a0001c0005t0001g0290 a0001c0005t0002g0298 a0001c0005t0002g0301 a0001c0005t0002g0305 a0001c0005t0002g0306 a0001c0005t0002g0307 a0001c0005t0002g0308 a0001c0005t0003g0291 a0001c0005t0003g0292 a0001c0006t0001g0061 a0001c0006t0001g0062 a0001c0006t0002g0034 a0001c0006t0002g0302 a0001c0006t0002g0303 a0001c0006t0002g0304 a0001c0008t0002g0299 a0001c0008t0002g0300 a0001c0009t0001g0096 a0001c0009t0002g0267 a0004c0011t0001g0057	23	364	0.0632	c.603 others(3): Show c.603T>C	p.His others(6): Show p.His201His	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	766/2297	603/2046	201/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58531808	T T	C C	synonymous_variant synonymous_variant	LOW	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0266 a0005c0019t0002g0266	1	364	0.0028	c.588 others(3): Show c.588A>G	p.Gly others(6): Show p.Gly196Gly	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	6/15	751/2297	588/2046	196/681	chr3	TogoVar
ACOX2_chr3_58500136_58542190	58534130	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0257 a0001c0020t0001g0257	1	364	0.0028	c.339 others(3): Show c.339C>T	p.Asp others(6): Show p.Asp113Asp	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	4/15	502/2297	339/2046	113/681	chr3	TogoVar
ACOX3_chr4_8361282_8445723	8373615	G G	A A	synonymous_variant synonymous_variant	LOW	HG00609.hp2 HG00639.hp2 HG00735.hp1 others(53): Show HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01433.hp2 HG02040.hp1 HG02056.hp2 HG02129.hp2 HG02145.hp2 HG02280.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18946.hp1 NA18960.hp2 NA18966.hp2 NA18967.hp2 NA18972.hp1 NA18984.hp1 NA18987.hp1 NA18991.hp2 NA19005.hp1 NA19030.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0011 a0002c0015 others(1): Show a0001c0002 a0001c0011 a0002c0015 a0004c0023	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0011t0002 a0002c0015t0002 a0004c0023t0002	a0001c0002t0001g0128 a0001c0002t0001g0273 a0001c0002t0001g0320 others(53): Show a0001c0002t0001g0128 a0001c0002t0001g0273 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0348 a0001c0002t0001g0349 a0001c0002t0001g0350 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0360 a0001c0002t0002g0011 a0001c0002t0002g0018 a0001c0002t0002g0094 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0111 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0307 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0004g0279 a0001c0002t0004g0280 a0001c0002t0004g0281 a0001c0002t0004g0282 a0001c0002t0004g0283 a0001c0002t0006g0096 a0001c0002t0008g0008 a0001c0002t0008g0009 a0001c0011t0002g0359 a0002c0015t0002g0369 a0004c0023t0002g0363	56	380	0.1474	c.184 others(4): Show c.1842C>T	p.Ser others(6): Show p.Ser614Ser	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	16/18	1932/2872	1842/2103	614/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8375090	G G	A A	synonymous_variant synonymous_variant	LOW	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0261 a0001c0016t0001g0261	1	380	0.0026	c.171 others(4): Show c.1716C>T	p.His others(6): Show p.His572His	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	15/18	1806/2872	1716/2103	572/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8375108	C C	G G	synonymous_variant synonymous_variant	LOW	HG01346.hp2 HG02886.hp2 NA18522.hp2 others(2): Show HG01346.hp2 HG02886.hp2 NA18522.hp2 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0003 a0001c0007t0003 a0001c0006t0003 a0001c0007t0003	a0001c0006t0003g0270 a0001c0006t0003g0284 a0001c0006t0003g0334 others(2): Show a0001c0006t0003g0270 a0001c0006t0003g0284 a0001c0006t0003g0334 a0001c0007t0003g0263 a0001c0007t0003g0264	5	380	0.0132	c.169 others(4): Show c.1698G>C	p.Thr others(6): Show p.Thr566Thr	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	15/18	1788/2872	1698/2103	566/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8375108	C C	T T	synonymous_variant synonymous_variant	LOW	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0359 a0001c0011t0002g0359	1	380	0.0026	c.169 others(4): Show c.1698G>A	p.Thr others(6): Show p.Thr566Thr	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	15/18	1788/2872	1698/2103	566/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8389631	G G	A A	synonymous_variant synonymous_variant	LOW	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0029 a0001c0010t0001g0029	1	380	0.0026	c.140 others(4): Show c.1404C>T	p.Leu others(6): Show p.Leu468Leu	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	12/18	1494/2872	1404/2103	468/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8389631	G G	C C	synonymous_variant synonymous_variant	LOW	NA18952.hp1 NA18957.hp1 NA18987.hp2 others(3): Show NA18952.hp1 NA18957.hp1 NA18987.hp2 NA19004.hp2 NA19070.hp2 NA19074.hp1	a0001 a0001	a0001c0005 a0001c0022 a0001c0005 a0001c0022	a0001c0005t0002 a0001c0022t0002 a0001c0005t0002 a0001c0022t0002	a0001c0005t0002g0146 a0001c0005t0002g0150 a0001c0005t0002g0167 others(3): Show a0001c0005t0002g0146 a0001c0005t0002g0150 a0001c0005t0002g0167 a0001c0005t0002g0168 a0001c0005t0002g0182 a0001c0022t0002g0010	6	380	0.0158	c.140 others(4): Show c.1404C>G	p.Leu others(6): Show p.Leu468Leu	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	12/18	1494/2872	1404/2103	468/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8392367	G G	A A	synonymous_variant synonymous_variant	LOW	HG00735.hp1 HG01070.hp2 HG01346.hp2 others(40): Show HG00735.hp1 HG01070.hp2 HG01346.hp2 HG01516.hp1 HG01884.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0001c0007 a0001c0016 others(4): Show a0001c0003 a0001c0007 a0001c0016 a0001c0021 a0002c0004 a0002c0015 a0005c0020	a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 others(8): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0007t0003 a0001c0016t0001 a0001c0021t0001 a0002c0004t0001 a0002c0004t0003 a0002c0015t0002 a0005c0020t0009	a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0228 others(40): Show a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0229 a0001c0003t0001g0230 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0265 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0271 a0001c0003t0001g0371 a0001c0003t0001g0372 a0001c0003t0003g0260 a0001c0003t0005g0254 a0001c0003t0005g0255 a0001c0003t0005g0256 a0001c0003t0005g0257 a0001c0003t0005g0258 a0001c0003t0007g0266 a0001c0007t0003g0263 a0001c0007t0003g0264 a0001c0016t0001g0261 a0001c0021t0001g0259 a0002c0004t0001g0367 a0002c0004t0001g0368 a0002c0004t0003g0240 a0002c0004t0003g0242 a0002c0004t0003g0243 a0002c0004t0003g0244 a0002c0015t0002g0369 a0005c0020t0009g0370	43	380	0.1132	c.126 others(4): Show c.1266C>T	p.Cys others(6): Show p.Cys422Cys	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	11/18	1356/2872	1266/2103	422/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8392397	C C	T T	synonymous_variant synonymous_variant	LOW	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0029 a0001c0010t0001g0029	1	380	0.0026	c.123 others(4): Show c.1236G>A	p.Ser others(6): Show p.Ser412Ser	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	11/18	1326/2872	1236/2103	412/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8394641	C C	T T	synonymous_variant synonymous_variant	LOW	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0042 a0001c0009t0001g0042	1	380	0.0026	c.115 others(4): Show c.1158G>A	p.Ser others(6): Show p.Ser386Ser	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	10/18	1248/2872	1158/2103	386/700	chr4	TogoVar
ACOX3_chr4_8361282_8445723	8414346	G G	A A	synonymous_variant synonymous_variant	LOW	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0184 a0001c0019t0001g0184	1	380	0.0026	c.489 others(3): Show c.489C>T	p.His others(6): Show p.His163His	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	5/18	579/2872	489/2103	163/700	chr4	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)