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 (≤).

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⚠️ 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
AKR7A2_chr1_19298965_19317144	19306058	G G	A A	missense_variant missense_variant	MODERATE	NA18997.hp1 NA18997.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0148 a0011c0017t0001g0148	1	460	0.0022	c.878 others(3): Show c.878C>T	p.Ser others(6): Show p.Ser293Leu	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	6/7	898/1360	878/1080	293/359	chr1	TogoVar
AKR7A2_chr1_19298965_19317144	19307026	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02257.hp1 HG02486.hp1 others(12): Show HG02055.hp2 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG02965.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp2 HG03516.hp2 NA18906.hp2 NA20129.hp2 NA21309.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0003c0023 a0010c0015 a0003c0003 a0003c0023 a0010c0015	a0003c0003t0001 a0003c0023t0001 a0010c0015t0001 a0003c0003t0001 a0003c0023t0001 a0010c0015t0001	a0003c0003t0001g0024 a0003c0003t0001g0026 a0003c0003t0001g0043 others(6): Show a0003c0003t0001g0024 a0003c0003t0001g0026 a0003c0003t0001g0043 a0003c0003t0001g0049 a0003c0003t0001g0067 a0003c0003t0001g0086 a0003c0003t0001g0144 a0003c0023t0001g0162 a0010c0015t0001g0078	15	460	0.0326	c.764 others(3): Show c.764G>A	p.Ser others(6): Show p.Ser255Asn	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	5/7	784/1360	764/1080	255/359	chr1	TogoVar
AKR7A2_chr1_19298965_19317144	19307389	G G	A A	missense_variant missense_variant	MODERATE	NA19012.hp2 NA19012.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0116 a0013c0019t0001g0116	1	460	0.0022	c.613 others(3): Show c.613C>T	p.Arg others(6): Show p.Arg205Trp	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	4/7	633/1360	613/1080	205/359	chr1	TogoVar
AKR7A2_chr1_19298965_19317144	19308211	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02647.hp2 HG06807.hp1 HG02109.hp1 HG02647.hp2 HG06807.hp1	a0009 a0014 a0009 a0014	a0009c0010 a0014c0021 a0009c0010 a0014c0021	a0009c0010t0001 a0014c0021t0001 a0009c0010t0001 a0014c0021t0001	a0009c0010t0001g0115 a0009c0010t0001g0140 a0014c0021t0001g0090 a0009c0010t0001g0115 a0009c0010t0001g0140 a0014c0021t0001g0090	3	460	0.0065	c.538 others(3): Show c.538G>A	p.Glu others(6): Show p.Glu180Lys	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	3/7	558/1360	538/1080	180/359	chr1	TogoVar
AKR7A2_chr1_19298965_19317144	19308253	C C	T T	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02818.hp2 HG02886.hp1 others(7): Show HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03540.hp1 HG03579.hp2 NA19043.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0029 a0005c0005t0001g0042 a0005c0005t0001g0069 others(4): Show a0005c0005t0001g0029 a0005c0005t0001g0042 a0005c0005t0001g0069 a0005c0005t0001g0076 a0005c0005t0001g0079 a0005c0005t0001g0087 a0005c0005t0001g0105	10	460	0.0217	c.496 others(3): Show c.496G>A	p.Val others(6): Show p.Val166Met	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	3/7	516/1360	496/1080	166/359	chr1	TogoVar
AKR7A2_chr1_19298965_19317144	19308470	C C	G G	missense_variant missense_variant	MODERATE	HG00408.hp1 HG01884.hp1 HG01891.hp2 others(39): Show HG00408.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA18945.hp2 NA19003.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0009 a0014	a0002c0002 a0002c0013 a0003c0003 others(4): Show a0002c0002 a0002c0013 a0003c0003 a0003c0023 a0005c0005 a0009c0010 a0014c0021	a0002c0002t0001 a0002c0013t0001 a0003c0003t0001 others(4): Show a0002c0002t0001 a0002c0013t0001 a0003c0003t0001 a0003c0023t0001 a0005c0005t0001 a0009c0010t0001 a0014c0021t0001	a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0048 others(27): Show a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0068 a0002c0002t0001g0072 a0002c0002t0001g0088 a0002c0002t0001g0096 a0002c0002t0001g0106 a0002c0002t0001g0123 a0002c0002t0001g0143 a0002c0002t0001g0153 a0002c0013t0001g0104 a0003c0003t0001g0024 a0003c0003t0001g0026 a0003c0003t0001g0043 a0003c0003t0001g0049 a0003c0003t0001g0067 a0003c0003t0001g0086 a0003c0003t0001g0144 a0003c0023t0001g0162 a0005c0005t0001g0029 a0005c0005t0001g0042 a0005c0005t0001g0069 a0005c0005t0001g0076 a0005c0005t0001g0079 a0005c0005t0001g0087 a0005c0005t0001g0105 a0009c0010t0001g0115 a0009c0010t0001g0140 a0014c0021t0001g0090	42	460	0.0913	c.471 others(3): Show c.471G>C	p.Gln others(6): Show p.Gln157His	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	2/7	491/1360	471/1080	157/359	chr1	TogoVar
AKR7A2_chr1_19298965_19317144	19308517	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00741.hp2 HG01074.hp1 others(8): Show HG00140.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01192.hp1 HG01346.hp2 HG01361.hp2 HG02004.hp2 HG02723.hp2 HG04204.hp1 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0018 a0004c0004t0001g0031 a0004c0004t0001g0045 others(2): Show a0004c0004t0001g0018 a0004c0004t0001g0031 a0004c0004t0001g0045 a0004c0004t0001g0129 a0004c0004t0001g0156	11	460	0.0239	c.424 others(3): Show c.424G>A	p.Ala others(6): Show p.Ala142Thr	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	2/7	444/1360	424/1080	142/359	chr1	TogoVar
AKR7A2_chr1_19298965_19317144	19308583	G G	A A	missense_variant missense_variant	MODERATE	HG02647.hp2 HG02647.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0090 a0014c0021t0001g0090	1	460	0.0022	c.358 others(3): Show c.358C>T	p.Arg others(6): Show p.Arg120Trp	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	2/7	378/1360	358/1080	120/359	chr1	TogoVar
AKR7A2_chr1_19298965_19317144	19311940	G G	A A	missense_variant missense_variant	MODERATE	HG01106.hp1 HG01106.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0159 a0015c0022t0001g0159	1	460	0.0022	c.185 others(3): Show c.185C>T	p.Ala others(5): Show p.Ala62Val	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	1/7	205/1360	185/1080	62/359	chr1	TogoVar
AKR7A2_chr1_19298965_19317144	19311941	C C	T T	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00423.hp2 NA18947.hp2 others(3): Show HG00423.hp1 HG00423.hp2 NA18947.hp2 NA19004.hp1 NA19063.hp2 NA19082.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0010 a0006c0006t0001g0065 a0006c0006t0001g0010 a0006c0006t0001g0065	6	460	0.0130	c.184 others(3): Show c.184G>A	p.Ala others(5): Show p.Ala62Thr	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	1/7	204/1360	184/1080	62/359	chr1	TogoVar
AKR7A2_chr1_19298965_19317144	19312063	G G	T T	missense_variant missense_variant	MODERATE	HG03017.hp2 HG03017.hp2	a0016 a0016	a0016c0012 a0016c0012	a0016c0012t0001 a0016c0012t0001	a0016c0012t0001g0064 a0016c0012t0001g0064	1	460	0.0022	c.62C others(2): Show c.62C>A	p.Pro others(5): Show p.Pro21Gln	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	1/7	82/1360	62/1080	21/359	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19282760	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.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.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 others(8): Show a0001 a0002 a0005 a0006 a0007 a0008 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0006 a0001c0011 others(17): Show a0001c0001 a0001c0006 a0001c0011 a0001c0017 a0001c0019 a0002c0002 a0002c0004 a0002c0008 a0002c0022 a0002c0025 a0005c0007 a0006c0009 a0006c0016 a0007c0010 a0008c0014 a0012c0018 a0013c0021 a0014c0023 a0015c0024 a0016c0026	a0001c0001t0001 a0001c0001t0006 a0001c0006t0001 others(19): Show a0001c0001t0001 a0001c0001t0006 a0001c0006t0001 a0001c0006t0004 a0001c0011t0003 a0001c0017t0001 a0001c0019t0001 a0002c0002t0001 a0002c0004t0001 a0002c0008t0002 a0002c0022t0001 a0002c0025t0001 a0005c0007t0001 a0006c0009t0001 a0006c0016t0001 a0007c0010t0001 a0008c0014t0001 a0012c0018t0001 a0013c0021t0005 a0014c0023t0001 a0015c0024t0001 a0016c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0006g0038 a0001c0006t0001g0008 a0001c0006t0001g0013 a0001c0006t0001g0052 a0001c0006t0001g0071 a0001c0006t0004g0058 a0001c0011t0003g0021 a0001c0017t0001g0082 a0001c0019t0001g0083 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0024 a0002c0002t0001g0031 a0002c0002t0001g0049 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0004t0001g0004 a0002c0004t0001g0062 a0002c0004t0001g0066 a0002c0004t0001g0070 a0002c0004t0001g0091 a0002c0008t0002g0010 a0002c0008t0002g0039 a0002c0022t0001g0053 a0002c0025t0001g0056 a0005c0007t0001g0011 a0005c0007t0001g0077 a0006c0009t0001g0019 a0006c0009t0001g0022 a0006c0016t0001g0040 a0006c0016t0001g0044 a0007c0010t0001g0015 a0008c0014t0001g0029 a0012c0018t0001g0080 a0013c0021t0005g0042 a0014c0023t0001g0065 a0015c0024t0001g0068 a0016c0026t0001g0041	347	432	0.8032	c.967 others(3): Show c.967A>G	p.Thr others(6): Show p.Thr323Ala	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	7/7	1028/1215	967/996	323/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19282768	T T	C C	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01099.hp1 HG02895.hp1 HG01069.hp1 HG01099.hp1 HG02895.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0027 a0010c0012t0001g0027	3	432	0.0069	c.959 others(3): Show c.959A>G	p.His others(6): Show p.His320Arg	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	7/7	1020/1215	959/996	320/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19282793	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02717.hp2 HG03579.hp2 HG02258.hp1 HG02717.hp2 HG03579.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0029 a0008c0014t0001g0029	3	432	0.0069	c.934 others(3): Show c.934G>A	p.Val others(6): Show p.Val312Met	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	7/7	995/1215	934/996	312/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19282801	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01243.hp2 HG02258.hp2 others(8): Show HG01109.hp1 HG01243.hp2 HG02258.hp2 HG02622.hp2 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03471.hp1 HG06807.hp1 NA19030.hp2	a0005 a0012 a0005 a0012	a0005c0007 a0012c0018 a0005c0007 a0012c0018	a0005c0007t0001 a0012c0018t0001 a0005c0007t0001 a0012c0018t0001	a0005c0007t0001g0011 a0005c0007t0001g0077 a0012c0018t0001g0080 a0005c0007t0001g0011 a0005c0007t0001g0077 a0012c0018t0001g0080	11	432	0.0255	c.926 others(3): Show c.926C>T	p.Pro others(6): Show p.Pro309Leu	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	7/7	987/1215	926/996	309/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19282876	G G	A A	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0005 a0013c0021t0005	a0013c0021t0005g0042 a0013c0021t0005g0042	1	432	0.0023	c.851 others(3): Show c.851C>T	p.Ala others(6): Show p.Ala284Val	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	7/7	912/1215	851/996	284/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19282892	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0005 a0013c0021t0005	a0013c0021t0005g0042 a0013c0021t0005g0042	1	432	0.0023	c.835 others(3): Show c.835G>A	p.Gly others(6): Show p.Gly279Ser	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	7/7	896/1215	835/996	279/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19284052	C C	T T	missense_variant missense_variant	MODERATE	HG03688.hp2 HG03688.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0065 a0014c0023t0001g0065	1	432	0.0023	c.778 others(3): Show c.778G>A	p.Ala others(6): Show p.Ala260Thr	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	6/7	839/1215	778/996	260/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19284747	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(341): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.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.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 others(9): Show a0001 a0002 a0005 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0006 a0001c0011 others(17): Show a0001c0001 a0001c0006 a0001c0011 a0001c0017 a0001c0019 a0002c0002 a0002c0004 a0002c0008 a0002c0022 a0002c0025 a0005c0007 a0007c0010 a0008c0014 a0009c0013 a0011c0015 a0012c0018 a0013c0021 a0014c0023 a0015c0024 a0016c0026	a0001c0001t0001 a0001c0001t0006 a0001c0006t0001 others(19): Show a0001c0001t0001 a0001c0001t0006 a0001c0006t0001 a0001c0006t0004 a0001c0011t0003 a0001c0017t0001 a0001c0019t0001 a0002c0002t0001 a0002c0004t0001 a0002c0008t0002 a0002c0022t0001 a0002c0025t0001 a0005c0007t0001 a0007c0010t0001 a0008c0014t0001 a0009c0013t0001 a0011c0015t0001 a0012c0018t0001 a0013c0021t0005 a0014c0023t0001 a0015c0024t0001 a0016c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(63): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0006g0038 a0001c0006t0001g0008 a0001c0006t0001g0013 a0001c0006t0001g0052 a0001c0006t0001g0071 a0001c0006t0004g0058 a0001c0011t0003g0021 a0001c0017t0001g0082 a0001c0019t0001g0083 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0024 a0002c0002t0001g0031 a0002c0002t0001g0049 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0004t0001g0004 a0002c0004t0001g0062 a0002c0004t0001g0066 a0002c0004t0001g0070 a0002c0004t0001g0091 a0002c0008t0002g0010 a0002c0008t0002g0039 a0002c0022t0001g0053 a0002c0025t0001g0056 a0005c0007t0001g0011 a0005c0007t0001g0077 a0007c0010t0001g0015 a0008c0014t0001g0029 a0009c0013t0001g0026 a0011c0015t0001g0033 a0011c0015t0001g0064 a0012c0018t0001g0080 a0013c0021t0005g0042 a0014c0023t0001g0065 a0015c0024t0001g0068 a0016c0026t0001g0041	344	432	0.7963	c.643 others(3): Show c.643A>G	p.Asn others(6): Show p.Asn215Asp	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	5/7	704/1215	643/996	215/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19285089	T T	C C	missense_variant missense_variant	MODERATE	HG02723.hp1 HG06807.hp1 HG02723.hp1 HG06807.hp1	a0012 a0015 a0012 a0015	a0012c0018 a0015c0024 a0012c0018 a0015c0024	a0012c0018t0001 a0015c0024t0001 a0012c0018t0001 a0015c0024t0001	a0012c0018t0001g0080 a0015c0024t0001g0068 a0012c0018t0001g0080 a0015c0024t0001g0068	2	432	0.0046	c.533 others(3): Show c.533A>G	p.Gln others(6): Show p.Gln178Arg	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	4/7	594/1215	533/996	178/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19285983	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(237): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0008 a0009 a0010 a0012	a0001c0001 a0001c0006 a0001c0011 others(8): Show a0001c0001 a0001c0006 a0001c0011 a0001c0017 a0001c0019 a0004c0005 a0005c0007 a0008c0014 a0009c0013 a0010c0012 a0012c0018	a0001c0001t0001 a0001c0001t0006 a0001c0006t0001 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0006t0001 a0001c0006t0004 a0001c0011t0003 a0001c0017t0001 a0001c0019t0001 a0004c0005t0001 a0005c0007t0001 a0008c0014t0001 a0009c0013t0001 a0010c0012t0001 a0012c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0006g0038 a0001c0006t0001g0008 a0001c0006t0001g0013 a0001c0006t0001g0052 a0001c0006t0001g0071 a0001c0006t0004g0058 a0001c0011t0003g0021 a0001c0017t0001g0082 a0001c0019t0001g0083 a0004c0005t0001g0009 a0004c0005t0001g0012 a0004c0005t0001g0023 a0004c0005t0001g0047 a0005c0007t0001g0011 a0005c0007t0001g0077 a0008c0014t0001g0029 a0009c0013t0001g0026 a0010c0012t0001g0027 a0012c0018t0001g0080	240	432	0.5556	c.412 others(3): Show c.412G>A	p.Val others(6): Show p.Val138Met	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	3/7	473/1215	412/996	138/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19286223	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01891.hp2 HG02451.hp2 others(3): Show HG01884.hp1 HG01891.hp2 HG02451.hp2 HG02572.hp1 HG02717.hp1 NA20129.hp1	a0007 a0016 a0007 a0016	a0007c0010 a0016c0026 a0007c0010 a0016c0026	a0007c0010t0001 a0016c0026t0001 a0007c0010t0001 a0016c0026t0001	a0007c0010t0001g0015 a0016c0026t0001g0041 a0007c0010t0001g0015 a0016c0026t0001g0041	6	432	0.0139	c.364 others(3): Show c.364G>A	p.Glu others(6): Show p.Glu122Lys	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	2/7	425/1215	364/996	122/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19286313	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0041 a0016c0026t0001g0041	1	432	0.0023	c.274 others(3): Show c.274C>T	p.Arg others(5): Show p.Arg92Trp	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	2/7	335/1215	274/996	92/331	chr1	TogoVar
AKT1S1_chr19_49864039_49882355	49872947	C C	T T	missense_variant missense_variant	MODERATE	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0042 a0002c0008t0002g0042	1	420	0.0024	c.349 others(3): Show c.349G>A	p.Gly others(6): Show p.Gly117Arg	AKT1S1	ENSG00000204673.11	transcript	ENST00000344175.10	protein_coding	2/5	475/1775	349/771	117/256	chr19	TogoVar
AKT2_chr19_40225317_40290345	40236025	C C	T T	missense_variant missense_variant	MODERATE	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0085 a0003c0005t0002g0085	1	360	0.0028	c.104 others(4): Show c.1040G>A	p.Arg others(6): Show p.Arg347His	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	11/14	1289/5250	1040/1446	347/481	chr19	TogoVar
AKT2_chr19_40225317_40290345	40256953	G G	T T	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00323.hp1 HG00280.hp2 HG00323.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0051 a0002c0003t0009g0076 a0002c0003t0009g0051 a0002c0003t0009g0076	2	360	0.0056	c.148 others(3): Show c.148C>A	p.Pro others(5): Show p.Pro50Thr	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	3/14	397/5250	148/1446	50/481	chr19	TogoVar
ALAD_chr9_113381312_113406284	113389064	A A	G G	missense_variant missense_variant	MODERATE	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0207 a0003c0011t0001g0207	1	446	0.0022	c.844 others(3): Show c.844T>C	p.Phe others(6): Show p.Phe282Leu	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding	11/12	992/3129	844/993	282/330	chr9	TogoVar
ALAD_chr9_113381312_113406284	113391547	C C	T T	missense_variant missense_variant	MODERATE	NA18957.hp2 NA18957.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0135 a0004c0009t0005g0135	1	446	0.0022	c.241 others(3): Show c.241G>A	p.Val others(5): Show p.Val81Ile	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding	4/12	389/3129	241/993	81/330	chr9	TogoVar
ALAD_chr9_113381312_113406284	113391611	C C	G G	missense_variant missense_variant	MODERATE	HG00423.hp2 HG01952.hp2 HG02132.hp2 others(23): Show HG00423.hp2 HG01952.hp2 HG02132.hp2 HG02148.hp2 HG02698.hp2 HG02735.hp1 HG03490.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG04199.hp1 HG04204.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18974.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA19012.hp2 NA19060.hp2 NA19089.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0009 a0002c0004 a0004c0009	a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 others(4): Show a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0005 a0002c0004t0006 a0002c0004t0008 a0004c0009t0005	a0002c0004t0001g0041 a0002c0004t0002g0126 a0002c0004t0002g0129 others(21): Show a0002c0004t0001g0041 a0002c0004t0002g0126 a0002c0004t0002g0129 a0002c0004t0002g0134 a0002c0004t0002g0223 a0002c0004t0002g0277 a0002c0004t0002g0298 a0002c0004t0003g0139 a0002c0004t0003g0224 a0002c0004t0003g0299 a0002c0004t0005g0053 a0002c0004t0005g0130 a0002c0004t0005g0132 a0002c0004t0005g0138 a0002c0004t0005g0152 a0002c0004t0005g0158 a0002c0004t0005g0160 a0002c0004t0005g0292 a0002c0004t0006g0074 a0002c0004t0006g0137 a0002c0004t0006g0166 a0002c0004t0008g0136 a0002c0004t0008g0140 a0004c0009t0005g0135	26	446	0.0583	c.177 others(3): Show c.177G>C	p.Lys others(5): Show p.Lys59Asn	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding	4/12	325/3129	177/993	59/330	chr9	TogoVar
ALAS1_chr3_52193160_52219327	52199248	A A	G G	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0089 a0003c0016t0001g0089	1	354	0.0028	c.7A> others(1): Show c.7A>G	p.Ser others(4): Show p.Ser3Gly	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	3/12	312/2375	7/1923	3/640	chr3	TogoVar
ALAS1_chr3_52193160_52219327	52199279	G G	A A	missense_variant missense_variant	MODERATE	HG03834.hp2 HG04204.hp1 NA19058.hp1 others(1): Show HG03834.hp2 HG04204.hp1 NA19058.hp1 NA19089.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0007 a0002c0004 a0004c0007	a0002c0004t0001 a0004c0007t0001 a0002c0004t0001 a0004c0007t0001	a0002c0004t0001g0016 a0002c0004t0001g0071 a0004c0007t0001g0016 a0002c0004t0001g0016 a0002c0004t0001g0071 a0004c0007t0001g0016	4	354	0.0113	c.38G others(2): Show c.38G>A	p.Arg others(5): Show p.Arg13Gln	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	3/12	343/2375	38/1923	13/640	chr3	TogoVar
ALAS1_chr3_52193160_52219327	52199371	G G	T T	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0090 a0009c0015t0001g0090	1	354	0.0028	c.130 others(3): Show c.130G>T	p.Ala others(5): Show p.Ala44Ser	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	3/12	435/2375	130/1923	44/640	chr3	TogoVar
ALAS1_chr3_52193160_52219327	52199434	A A	G G	missense_variant missense_variant	MODERATE	NA18983.hp1 NA18983.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0053 a0005c0014t0001g0053	1	354	0.0028	c.193 others(3): Show c.193A>G	p.Ser others(5): Show p.Ser65Gly	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	3/12	498/2375	193/1923	65/640	chr3	TogoVar
ALAS1_chr3_52193160_52219327	52202512	A A	G G	missense_variant missense_variant	MODERATE	NA19058.hp2 NA19058.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0011 a0006c0013t0001g0011	1	354	0.0028	c.205 others(3): Show c.205A>G	p.Lys others(5): Show p.Lys69Glu	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	4/12	510/2375	205/1923	69/640	chr3	TogoVar
ALAS1_chr3_52193160_52219327	52202649	G G	C C	missense_variant missense_variant	MODERATE	HG03834.hp2 HG03834.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0016 a0004c0007t0001g0016	1	354	0.0028	c.342 others(3): Show c.342G>C	p.Gln others(6): Show p.Gln114His	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	4/12	647/2375	342/1923	114/640	chr3	TogoVar
ALAS1_chr3_52193160_52219327	52204806	A A	G G	missense_variant missense_variant	MODERATE	HG04228.hp2 HG04228.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0073 a0008c0010t0001g0073	1	354	0.0028	c.691 others(3): Show c.691A>G	p.Met others(6): Show p.Met231Val	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	6/12	996/2375	691/1923	231/640	chr3	TogoVar
ALAS1_chr3_52193160_52219327	52208136	A A	G G	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0012 a0007c0009t0001g0012	1	354	0.0028	c.121 others(4): Show c.1219A>G	p.Ile others(6): Show p.Ile407Val	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	9/12	1524/2375	1219/1923	407/640	chr3	TogoVar
ALAS2_chrX_55004055_55035977	55009187	T T	A A	missense_variant missense_variant	MODERATE	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0142 a0003c0005t0001g0142	1	284	0.0035	c.175 others(4): Show c.1757A>T	p.Tyr others(6): Show p.Tyr586Phe	ALAS2	ENSG00000158578.21	transcript	ENST00000650242.1	protein_coding	11/11	1808/1940	1757/1764	586/587	chrX	TogoVar
ALAS2_chrX_55004055_55035977	55013527	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0122 a0002c0006t0001g0122	1	284	0.0035	c.155 others(4): Show c.1559C>T	p.Pro others(6): Show p.Pro520Leu	ALAS2	ENSG00000158578.21	transcript	ENST00000650242.1	protein_coding	10/11	1610/1940	1559/1764	520/587	chrX	TogoVar
ALB_chr4_73399287_73426482	73406739	C C	T T	missense_variant missense_variant	MODERATE	HG01257.hp1 HG02735.hp1 HG03239.hp2 HG01257.hp1 HG02735.hp1 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	3	392	0.0077	c.248 others(3): Show c.248C>T	p.Ala others(5): Show p.Ala83Val	ALB	ENSG00000163631.19	transcript	ENST00000295897.9	protein_coding	3/15	289/2285	248/1830	83/609	chr4	TogoVar
ALB_chr4_73399287_73426482	73408646	A A	G G	missense_variant missense_variant	MODERATE	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0039 a0003c0004t0001g0039	2	392	0.0051	c.323 others(3): Show c.323A>G	p.Tyr others(6): Show p.Tyr108Cys	ALB	ENSG00000163631.19	transcript	ENST00000295897.9	protein_coding	4/15	364/2285	323/1830	108/609	chr4	TogoVar
ALB_chr4_73399287_73426482	73409471	C C	T T	missense_variant missense_variant	MODERATE	HG01358.hp1 HG01358.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0036 a0006c0008t0001g0036	1	392	0.0026	c.599 others(3): Show c.599C>T	p.Ala others(6): Show p.Ala200Val	ALB	ENSG00000163631.19	transcript	ENST00000295897.9	protein_coding	5/15	640/2285	599/1830	200/609	chr4	TogoVar
ALB_chr4_73399287_73426482	73413546	G G	C C	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0005 a0005c0005t0001g0005	1	392	0.0026	c.970 others(3): Show c.970G>C	p.Ala others(6): Show p.Ala324Pro	ALB	ENSG00000163631.19	transcript	ENST00000295897.9	protein_coding	8/15	1011/2285	970/1830	324/609	chr4	TogoVar
ALB_chr4_73399287_73426482	73418311	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18977.hp1 NA18977.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0003 a0004c0007t0001g0003	1	392	0.0026	c.165 others(4): Show c.1652C>T	p.Thr others(6): Show p.Thr551Ile	ALB	ENSG00000163631.19	transcript	ENST00000295897.9	protein_coding	12/15	1693/2285	1652/1830	551/609	chr4	TogoVar
ALCAM_chr3_105361909_105581900	105524365	C C	T T	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0148 a0005c0016t0001g0148	1	378	0.0027	c.251 others(3): Show c.251C>T	p.Pro others(5): Show p.Pro84Leu	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	3/16	751/4701	251/1752	84/583	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105540017	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00621.hp2 HG00642.hp2 others(17): Show HG00140.hp2 HG00621.hp2 HG00642.hp2 HG01106.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG02300.hp2 HG02683.hp1 HG02698.hp2 HG03490.hp1 HG03492.hp2 HG03710.hp1 HG04184.hp1 NA18945.hp1 NA18949.hp1 NA18952.hp2 NA19058.hp2 NA19066.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0005 a0003c0010 a0003c0005 a0003c0010	a0003c0005t0001 a0003c0005t0011 a0003c0005t0012 others(2): Show a0003c0005t0001 a0003c0005t0011 a0003c0005t0012 a0003c0005t0023 a0003c0010t0001	a0003c0005t0001g0003 a0003c0005t0001g0006 a0003c0005t0001g0007 others(15): Show a0003c0005t0001g0003 a0003c0005t0001g0006 a0003c0005t0001g0007 a0003c0005t0001g0008 a0003c0005t0001g0009 a0003c0005t0001g0010 a0003c0005t0001g0097 a0003c0005t0001g0100 a0003c0005t0001g0101 a0003c0005t0001g0102 a0003c0005t0001g0105 a0003c0005t0001g0108 a0003c0005t0001g0116 a0003c0005t0001g0117 a0003c0005t0011g0110 a0003c0005t0012g0098 a0003c0005t0023g0011 a0003c0010t0001g0002	20	378	0.0529	c.773 others(3): Show c.773A>G	p.Asn others(6): Show p.Asn258Ser	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	7/16	1273/4701	773/1752	258/583	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105541676	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00408.hp2 HG00609.hp2 others(21): Show HG00280.hp1 HG00408.hp2 HG00609.hp2 HG01099.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01516.hp1 HG01517.hp2 HG01993.hp2 HG02071.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 NA18980.hp1 NA18995.hp1 NA19005.hp1 NA19057.hp1 NA19084.hp1 NA19091.hp2 NA19240.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0004 a0002c0004t0002g0019 a0002c0004t0002g0022 others(20): Show a0002c0004t0002g0004 a0002c0004t0002g0019 a0002c0004t0002g0022 a0002c0004t0002g0055 a0002c0004t0002g0099 a0002c0004t0002g0127 a0002c0004t0002g0128 a0002c0004t0002g0140 a0002c0004t0002g0141 a0002c0004t0002g0147 a0002c0004t0002g0168 a0002c0004t0002g0169 a0002c0004t0002g0179 a0002c0004t0002g0180 a0002c0004t0002g0181 a0002c0004t0002g0184 a0002c0004t0002g0191 a0002c0004t0002g0193 a0002c0004t0002g0194 a0002c0004t0002g0219 a0002c0004t0002g0234 a0002c0004t0002g0235 a0002c0004t0002g0255	24	378	0.0635	c.902 others(3): Show c.902C>T	p.Thr others(6): Show p.Thr301Met	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	8/16	1402/4701	902/1752	301/583	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105541736	T T	C C	missense_variant missense_variant	MODERATE	NA18959.hp1 NA18959.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0303 a0007c0013t0001g0303	1	378	0.0027	c.962 others(3): Show c.962T>C	p.Met others(6): Show p.Met321Thr	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	8/16	1462/4701	962/1752	321/583	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105545332	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00738.hp1 HG01071.hp2 others(4): Show HG00099.hp2 HG00738.hp1 HG01071.hp2 HG01257.hp2 HG01943.hp2 HG03239.hp2 NA20805.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0185 a0004c0007t0001g0195 a0004c0007t0001g0208 others(4): Show a0004c0007t0001g0185 a0004c0007t0001g0195 a0004c0007t0001g0208 a0004c0007t0001g0215 a0004c0007t0001g0224 a0004c0007t0001g0258 a0004c0007t0001g0260	7	378	0.0185	c.110 others(4): Show c.1101G>T	p.Met others(6): Show p.Met367Ile	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	9/16	1601/4701	1101/1752	367/583	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105547150	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04204.hp2 HG04204.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0083 a0006c0014t0002g0083	1	378	0.0027	c.110 others(4): Show c.1106A>G	p.Asp others(6): Show p.Asp369Gly	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	10/16	1606/4701	1106/1752	369/583	chr3	TogoVar

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