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
AMER3_chr2_130750540_130773134	130762960	C C	T T	synonymous_variant synonymous_variant	LOW	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0024 a0001c0024t0024	a0001c0024t0024g0038 a0001c0024t0024g0038	1	360	0.0028	c.888 others(3): Show c.888C>T	p.Ala others(6): Show p.Ala296Ala	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	1042/6216	888/2586	296/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130762993	C C	T T	synonymous_variant synonymous_variant	LOW	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0001 a0001c0023t0001g0001	1	360	0.0028	c.921 others(3): Show c.921C>T	p.Thr others(6): Show p.Thr307Thr	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	1075/6216	921/2586	307/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130763323	C C	T T	synonymous_variant synonymous_variant	LOW	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0001 a0001c0022t0001g0001	1	360	0.0028	c.125 others(4): Show c.1251C>T	p.Tyr others(6): Show p.Tyr417Tyr	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	1405/6216	1251/2586	417/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130763512	C C	T T	synonymous_variant synonymous_variant	LOW	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0046 a0001c0021t0046	a0001c0021t0046g0002 a0001c0021t0046g0002	1	360	0.0028	c.144 others(4): Show c.1440C>T	p.Ser others(6): Show p.Ser480Ser	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	1594/6216	1440/2586	480/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130763740	G G	T T	synonymous_variant synonymous_variant	LOW	HG00597.hp2 HG02015.hp1 HG02083.hp1 others(5): Show HG00597.hp2 HG02015.hp1 HG02083.hp1 NA18947.hp1 NA18967.hp2 NA18993.hp2 NA19009.hp2 NA19074.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0002 a0001c0005t0001 a0001c0005t0002	a0001c0005t0001g0001 a0001c0005t0002g0001 a0001c0005t0001g0001 a0001c0005t0002g0001	8	360	0.0222	c.166 others(4): Show c.1668G>T	p.Gly others(6): Show p.Gly556Gly	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	1822/6216	1668/2586	556/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130763752	C C	T T	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG03453.hp2 HG02258.hp2 HG03453.hp2	a0005 a0005	a0005c0027 a0005c0028 a0005c0027 a0005c0028	a0005c0027t0050 a0005c0028t0049 a0005c0027t0050 a0005c0028t0049	a0005c0027t0050g0054 a0005c0028t0049g0056 a0005c0027t0050g0054 a0005c0028t0049g0056	2	360	0.0056	c.168 others(4): Show c.1680C>T	p.Cys others(6): Show p.Cys560Cys	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	1834/6216	1680/2586	560/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130763809	C C	T T	synonymous_variant synonymous_variant	LOW	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0003 a0001c0020t0002g0003	1	360	0.0028	c.173 others(4): Show c.1737C>T	p.Ala others(6): Show p.Ala579Ala	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	1891/6216	1737/2586	579/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130764073	G G	A A	synonymous_variant synonymous_variant	LOW	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0001 a0001c0009t0001g0001	2	360	0.0056	c.200 others(4): Show c.2001G>A	p.Leu others(6): Show p.Leu667Leu	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	2155/6216	2001/2586	667/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130764613	A A	G G	synonymous_variant synonymous_variant	LOW	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0001 a0001c0016t0001g0001	1	360	0.0028	c.254 others(4): Show c.2541A>G	p.Pro others(6): Show p.Pro847Pro	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	2695/6216	2541/2586	847/861	chr2	TogoVar
AMFR_chr16_56356452_56430545	56362942	C C	T T	synonymous_variant synonymous_variant	LOW	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0055 a0001c0006t0055	a0001c0006t0055g0349 a0001c0006t0055g0349	1	356	0.0028	c.189 others(4): Show c.1899G>A	p.Ala others(6): Show p.Ala633Ala	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	14/14	2117/3607	1899/1932	633/643	chr16	TogoVar
AMFR_chr16_56356452_56430545	56362978	G G	A A	synonymous_variant synonymous_variant	LOW	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0168 a0001c0007t0001g0168	1	356	0.0028	c.186 others(4): Show c.1863C>T	p.Pro others(6): Show p.Pro621Pro	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	14/14	2081/3607	1863/1932	621/643	chr16	TogoVar
AMFR_chr16_56356452_56430545	56363944	G G	A A	synonymous_variant synonymous_variant	LOW	HG02280.hp1 HG02717.hp1 HG02818.hp2 others(5): Show HG02280.hp1 HG02717.hp1 HG02818.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0322 a0001c0002t0012g0323 a0001c0002t0012g0324 others(5): Show a0001c0002t0012g0322 a0001c0002t0012g0323 a0001c0002t0012g0324 a0001c0002t0012g0325 a0001c0002t0012g0326 a0001c0002t0012g0327 a0001c0002t0012g0328 a0001c0002t0012g0329	8	356	0.0225	c.176 others(4): Show c.1761C>T	p.Asp others(6): Show p.Asp587Asp	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	13/14	1979/3607	1761/1932	587/643	chr16	TogoVar
AMFR_chr16_56356452_56430545	56369196	T T	C C	synonymous_variant synonymous_variant	LOW	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0102 a0001c0008t0002g0102	1	356	0.0028	c.151 others(4): Show c.1512A>G	p.Thr others(6): Show p.Thr504Thr	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	11/14	1730/3607	1512/1932	504/643	chr16	TogoVar
AMFR_chr16_56356452_56430545	56405005	C C	T T	synonymous_variant synonymous_variant	LOW	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0152 a0004c0005t0001g0152	1	356	0.0028	c.744 others(3): Show c.744G>A	p.Gly others(6): Show p.Gly248Gly	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	6/14	962/3607	744/1932	248/643	chr16	TogoVar
AMFR_chr16_56356452_56430545	56425321	G G	A A	synonymous_variant synonymous_variant	LOW	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0035 a0001c0009t0035	a0001c0009t0035g0135 a0001c0009t0035g0135	1	356	0.0028	c.7C> others(1): Show c.7C>T	p.Leu others(4): Show p.Leu3Leu	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	1/14	225/3607	7/1932	3/643	chr16	TogoVar
AMHR2_chr12_53418855_53436672	53429523	G G	A A	synonymous_variant synonymous_variant	LOW	HG01099.hp1 HG01109.hp2 HG01884.hp1 others(47): Show HG01099.hp1 HG01109.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0001 a0005c0006t0001 a0001c0002t0001 a0005c0006t0001	a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0011 others(10): Show a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0011 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0045 a0005c0006t0001g0002	50	356	0.1405	c.103 others(4): Show c.1038G>A	p.Ser others(6): Show p.Ser346Ser	AMHR2	ENSG00000135409.11	transcript	ENST00000257863.9	protein_coding	8/11	1118/2001	1038/1722	346/573	chr12	TogoVar
AMHR2_chr12_53418855_53436672	53429860	G G	A A	synonymous_variant synonymous_variant	LOW	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	356	0.0028	c.117 others(4): Show c.1170G>A	p.Glu others(6): Show p.Glu390Glu	AMHR2	ENSG00000135409.11	transcript	ENST00000257863.9	protein_coding	9/11	1250/2001	1170/1722	390/573	chr12	TogoVar
AMH_chr19_2244323_2257073	2249506	A A	G G	synonymous_variant synonymous_variant	LOW	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0001 a0001c0027t0001g0001	1	432	0.0023	c.174 others(3): Show c.174A>G	p.Ala others(5): Show p.Ala58Ala	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	184/1809	174/1683	58/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249584	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00280.hp2 HG00544.hp1 others(26): Show HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG01123.hp1 HG01123.hp2 HG01433.hp1 HG01934.hp2 HG02004.hp1 HG02148.hp1 HG02293.hp1 HG02602.hp2 HG02738.hp2 HG03942.hp1 HG04204.hp1 NA18950.hp1 NA18967.hp1 NA18981.hp2 NA18995.hp1 NA19010.hp2 NA19011.hp1 NA19057.hp2 NA19070.hp2 NA19075.hp1 NA19080.hp2 NA19085.hp2 NA19088.hp2 NA20805.hp2	a0002 a0014 a0002 a0014	a0002c0004 a0002c0009 a0014c0015 a0002c0004 a0002c0009 a0014c0015	a0002c0004t0001 a0002c0009t0001 a0014c0015t0001 a0002c0004t0001 a0002c0009t0001 a0014c0015t0001	a0002c0004t0001g0003 a0002c0004t0001g0010 a0002c0004t0001g0011 others(2): Show a0002c0004t0001g0003 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0009t0001g0003 a0014c0015t0001g0003	29	432	0.0671	c.252 others(3): Show c.252G>A	p.Leu others(5): Show p.Leu84Leu	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	262/1809	252/1683	84/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249584	G G	C C	synonymous_variant synonymous_variant	LOW	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0001 a0002c0016t0001g0001	1	432	0.0023	c.252 others(3): Show c.252G>C	p.Leu others(5): Show p.Leu84Leu	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	262/1809	252/1683	84/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249632	C C	T T	synonymous_variant synonymous_variant	LOW	HG00408.hp2 HG02015.hp2 HG00408.hp2 HG02015.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0002 a0001c0013t0001g0002	2	432	0.0046	c.300 others(3): Show c.300C>T	p.Phe others(6): Show p.Phe100Phe	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	310/1809	300/1683	100/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249635	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00280.hp2 HG00544.hp1 others(29): Show HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG01123.hp1 HG01123.hp2 HG01433.hp1 HG01934.hp2 HG02004.hp1 HG02145.hp1 HG02148.hp1 HG02293.hp1 HG02602.hp2 HG02738.hp2 HG03225.hp2 HG03942.hp1 HG04204.hp1 NA18950.hp1 NA18967.hp1 NA18981.hp2 NA18995.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp1 NA19057.hp2 NA19070.hp2 NA19075.hp1 NA19080.hp2 NA19085.hp2 NA19088.hp2 NA20805.hp2	a0002 a0014 a0002 a0014	a0002c0004 a0002c0009 a0002c0010 others(1): Show a0002c0004 a0002c0009 a0002c0010 a0014c0015	a0002c0004t0001 a0002c0009t0001 a0002c0010t0001 others(1): Show a0002c0004t0001 a0002c0009t0001 a0002c0010t0001 a0014c0015t0001	a0002c0004t0001g0003 a0002c0004t0001g0010 a0002c0004t0001g0011 others(3): Show a0002c0004t0001g0003 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0009t0001g0003 a0002c0010t0001g0003 a0014c0015t0001g0003	32	432	0.0741	c.303 others(3): Show c.303G>A	p.Gly others(6): Show p.Gly101Gly	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	313/1809	303/1683	101/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249731	A A	G G	synonymous_variant synonymous_variant	LOW	NA19012.hp2 NA19012.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0008 a0012c0018t0001g0008	1	432	0.0023	c.399 others(3): Show c.399A>G	p.Leu others(6): Show p.Leu133Leu	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	409/1809	399/1683	133/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2250470	G G	A A	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00323.hp2 HG00423.hp1 others(58): Show HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG01256.hp1 HG01943.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 NA18612.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19012.hp1 NA19055.hp1 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19076.hp2 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0016 a0002c0002 a0002c0006 a0002c0016	a0002c0002t0001 a0002c0006t0001 a0002c0016t0001 a0002c0002t0001 a0002c0006t0001 a0002c0016t0001	a0002c0002t0001g0001 a0002c0006t0001g0001 a0002c0016t0001g0001 a0002c0002t0001g0001 a0002c0006t0001g0001 a0002c0016t0001g0001	61	432	0.1412	c.546 others(3): Show c.546G>A	p.Pro others(6): Show p.Pro182Pro	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	2/5	556/1809	546/1683	182/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2250693	G G	T T	synonymous_variant synonymous_variant	LOW	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0001 a0002c0011t0001g0001	2	432	0.0046	c.597 others(3): Show c.597G>T	p.Ala others(6): Show p.Ala199Ala	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	3/5	607/1809	597/1683	199/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2251489	G G	A A	synonymous_variant synonymous_variant	LOW	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0001 a0001c0023t0001g0001	1	432	0.0023	c.121 others(4): Show c.1215G>A	p.Ala others(6): Show p.Ala405Ala	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	5/5	1225/1809	1215/1683	405/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2251513	T T	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(380): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.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.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 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.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0013 a0001c0023 others(19): Show a0001c0001 a0001c0013 a0001c0023 a0001c0027 a0002c0002 a0002c0003 a0002c0004 a0002c0010 a0002c0011 a0002c0016 a0004c0012 a0005c0019 a0006c0020 a0007c0025 a0008c0024 a0009c0022 a0011c0021 a0012c0018 a0013c0017 a0014c0015 a0015c0028 a0016c0014	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0001c0023t0001 a0001c0027t0001 a0002c0002t0001 a0002c0003t0001 a0002c0004t0001 a0002c0010t0001 a0002c0011t0001 a0002c0016t0001 a0004c0012t0001 a0005c0019t0001 a0006c0020t0001 a0007c0025t0001 a0008c0024t0001 a0009c0022t0001 a0011c0021t0001 a0012c0018t0001 a0013c0017t0001 a0014c0015t0001 a0015c0028t0001 a0016c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0013t0001g0002 a0001c0023t0001g0001 a0001c0027t0001g0001 a0002c0002t0001g0001 a0002c0003t0001g0001 a0002c0003t0001g0005 a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0017 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0004t0001g0003 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0010t0001g0003 a0002c0011t0001g0001 a0002c0016t0001g0001 a0004c0012t0001g0002 a0005c0019t0001g0002 a0006c0020t0001g0001 a0007c0025t0001g0002 a0008c0024t0001g0002 a0009c0022t0001g0001 a0011c0021t0001g0002 a0012c0018t0001g0008 a0013c0017t0001g0001 a0014c0015t0001g0003 a0015c0028t0001g0002 a0016c0014t0001g0002	383	432	0.8866	c.123 others(4): Show c.1239T>A	p.Gly others(6): Show p.Gly413Gly	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	5/5	1249/1809	1239/1683	413/560	chr19	TogoVar
AMIGO1_chr1_109499178_109514727	109507497	G G	A A	synonymous_variant synonymous_variant	LOW	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0035 a0001c0003t0001g0035	1	400	0.0025	c.141 others(4): Show c.1416C>T	p.Gly others(6): Show p.Gly472Gly	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding	2/2	1811/5130	1416/1482	472/493	chr1	TogoVar
AMIGO2_chr12_47071447_47084959	47077521	C C	T T	synonymous_variant synonymous_variant	LOW	HG01175.hp1 HG01192.hp2 HG02622.hp2 others(3): Show HG01175.hp1 HG01192.hp2 HG02622.hp2 HG03540.hp2 NA18522.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0007 a0001c0005 a0003c0007	a0001c0005t0007 a0003c0007t0007 a0001c0005t0007 a0003c0007t0007	a0001c0005t0007g0011 a0003c0007t0007g0022 a0001c0005t0007g0011 a0003c0007t0007g0022	6	480	0.0125	c.148 others(4): Show c.1482G>A	p.Glu others(6): Show p.Glu494Glu	AMIGO2	ENSG00000139211.7	transcript	ENST00000550413.2	protein_coding	3/3	2150/3224	1482/1569	494/522	chr12	TogoVar
AMIGO2_chr12_47071447_47084959	47077610	T T	G G	synonymous_variant synonymous_variant	LOW	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0026 a0001c0009t0001g0026	1	480	0.0021	c.139 others(4): Show c.1393A>C	p.Arg others(6): Show p.Arg465Arg	AMIGO2	ENSG00000139211.7	transcript	ENST00000550413.2	protein_coding	3/3	2061/3224	1393/1569	465/522	chr12	TogoVar
AMIGO2_chr12_47071447_47084959	47077656	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00280.hp1 HG00609.hp2 others(101): Show HG00099.hp1 HG00280.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02148.hp2 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp2 HG02602.hp2 HG02698.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18953.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18976.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18993.hp1 NA19011.hp1 NA19030.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19082.hp1 NA19083.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0002 a0004c0010 a0005c0011 a0001c0002 a0004c0010 a0005c0011	a0001c0002t0002 a0001c0002t0012 a0001c0002t0015 others(3): Show a0001c0002t0002 a0001c0002t0012 a0001c0002t0015 a0001c0002t0016 a0004c0010t0002 a0005c0011t0002	a0001c0002t0002g0001 a0001c0002t0002g0013 a0001c0002t0012g0030 others(4): Show a0001c0002t0002g0001 a0001c0002t0002g0013 a0001c0002t0012g0030 a0001c0002t0015g0019 a0001c0002t0016g0021 a0004c0010t0002g0018 a0005c0011t0002g0020	104	480	0.2167	c.134 others(4): Show c.1347C>T	p.Pro others(6): Show p.Pro449Pro	AMIGO2	ENSG00000139211.7	transcript	ENST00000550413.2	protein_coding	3/3	2015/3224	1347/1569	449/522	chr12	TogoVar
AMIGO2_chr12_47071447_47084959	47077890	C C	T T	synonymous_variant synonymous_variant	LOW	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0025 a0001c0008t0001g0025	1	480	0.0021	c.111 others(4): Show c.1113G>A	p.Leu others(6): Show p.Leu371Leu	AMIGO2	ENSG00000139211.7	transcript	ENST00000550413.2	protein_coding	3/3	1781/3224	1113/1569	371/522	chr12	TogoVar
AMIGO2_chr12_47071447_47084959	47078910	C C	T T	synonymous_variant synonymous_variant	LOW	HG01175.hp1 HG01192.hp2 HG01884.hp1 others(9): Show HG01175.hp1 HG01192.hp2 HG01884.hp1 HG02257.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02896.hp2 HG03540.hp2 NA18522.hp1 NA18522.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0005 a0003c0007 a0001c0004 a0001c0005 a0003c0007	a0001c0004t0008 a0001c0005t0007 a0003c0007t0007 a0001c0004t0008 a0001c0005t0007 a0003c0007t0007	a0001c0004t0008g0009 a0001c0005t0007g0011 a0003c0007t0007g0022 a0001c0004t0008g0009 a0001c0005t0007g0011 a0003c0007t0007g0022	12	480	0.0250	c.93G others(2): Show c.93G>A	p.Val others(5): Show p.Val31Val	AMIGO2	ENSG00000139211.7	transcript	ENST00000550413.2	protein_coding	3/3	761/3224	93/1569	31/522	chr12	TogoVar
AMIGO3_chr3_49711829_49724684	49718038	G G	A A	synonymous_variant synonymous_variant	LOW	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0000 a0001c0008t0001g0000	1	334	0.0030	c.142 others(4): Show c.1428C>T	p.Phe others(6): Show p.Phe476Phe	AMIGO3	ENSG00000176020.9	transcript	ENST00000320431.8	protein_coding	1/1	1647/2856	1428/1515	476/504	chr3	TogoVar
AMIGO3_chr3_49711829_49724684	49718065	G G	A A	synonymous_variant synonymous_variant	LOW	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0000 a0001c0009t0001g0000	1	334	0.0030	c.140 others(4): Show c.1401C>T	p.Arg others(6): Show p.Arg467Arg	AMIGO3	ENSG00000176020.9	transcript	ENST00000320431.8	protein_coding	1/1	1620/2856	1401/1515	467/504	chr3	TogoVar
AMIGO3_chr3_49711829_49724684	49718440	T T	C C	synonymous_variant synonymous_variant	LOW	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0000 a0001c0012t0001g0000	1	334	0.0030	c.102 others(4): Show c.1026A>G	p.Val others(6): Show p.Val342Val	AMIGO3	ENSG00000176020.9	transcript	ENST00000320431.8	protein_coding	1/1	1245/2856	1026/1515	342/504	chr3	TogoVar
AMIGO3_chr3_49711829_49724684	49718779	G G	A A	synonymous_variant synonymous_variant	LOW	HG03041.hp1 HG03453.hp2 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	2	334	0.0060	c.687 others(3): Show c.687C>T	p.His others(6): Show p.His229His	AMIGO3	ENSG00000176020.9	transcript	ENST00000320431.8	protein_coding	1/1	906/2856	687/1515	229/504	chr3	TogoVar
AMN1_chr12_31666142_31734021	31672360	A A	G G	synonymous_variant synonymous_variant	LOW	HG02559.hp2 HG02615.hp2 HG02895.hp2 others(1): Show HG02559.hp2 HG02615.hp2 HG02895.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0277 a0001c0002t0001g0325 a0001c0002t0007g0278 others(1): Show a0001c0002t0001g0277 a0001c0002t0001g0325 a0001c0002t0007g0278 a0001c0002t0007g0279	4	432	0.0093	c.721 others(3): Show c.721T>C	p.Leu others(6): Show p.Leu241Leu	AMN1	ENSG00000151743.11	transcript	ENST00000281471.11	protein_coding	7/7	734/1952	721/777	241/258	chr12	TogoVar
AMN1_chr12_31666142_31734021	31729000	G G	C C	synonymous_variant synonymous_variant	LOW	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0389 a0001c0004t0002g0389	1	432	0.0023	c.9C> others(1): Show c.9C>G	p.Arg others(4): Show p.Arg3Arg	AMN1	ENSG00000151743.11	transcript	ENST00000281471.11	protein_coding	1/7	22/1952	9/777	3/258	chr12	TogoVar
AMN_chr14_102917663_102935842	102923947	C C	T T	synonymous_variant synonymous_variant	LOW	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0002 a0001c0012t0001g0002	1	452	0.0022	c.175 others(3): Show c.175C>T	p.Leu others(5): Show p.Leu59Leu	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	3/12	201/1550	175/1362	59/453	chr14	TogoVar
AMN_chr14_102917663_102935842	102928783	T T	C C	synonymous_variant synonymous_variant	LOW	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0064 a0001c0005t0002g0064	1	452	0.0022	c.321 others(3): Show c.321T>C	p.Ser others(6): Show p.Ser107Ser	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	5/12	347/1550	321/1362	107/453	chr14	TogoVar
AMN_chr14_102917663_102935842	102928786	C C	T T	synonymous_variant synonymous_variant	LOW	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0009 a0001c0011t0009	a0001c0011t0009g0102 a0001c0011t0009g0102	1	452	0.0022	c.324 others(3): Show c.324C>T	p.Asp others(6): Show p.Asp108Asp	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	5/12	350/1550	324/1362	108/453	chr14	TogoVar
AMN_chr14_102917663_102935842	102929511	C C	T T	synonymous_variant synonymous_variant	LOW	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0015 a0001c0010t0002g0015	1	452	0.0022	c.735 others(3): Show c.735C>T	p.Pro others(6): Show p.Pro245Pro	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	7/12	761/1550	735/1362	245/453	chr14	TogoVar
AMN_chr14_102917663_102935842	102930178	C C	T T	synonymous_variant synonymous_variant	LOW	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0098 a0001c0009t0001g0098	1	452	0.0022	c.102 others(4): Show c.1020C>T	p.Gly others(6): Show p.Gly340Gly	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	10/12	1046/1550	1020/1362	340/453	chr14	TogoVar
AMN_chr14_102917663_102935842	102930295	G G	T T	synonymous_variant synonymous_variant	LOW	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0087 a0001c0008t0001g0087	1	452	0.0022	c.113 others(4): Show c.1137G>T	p.Ala others(6): Show p.Ala379Ala	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	10/12	1163/1550	1137/1362	379/453	chr14	TogoVar
AMOTL1_chr11_94763356_94881748	94799469	G G	A A	synonymous_variant synonymous_variant	LOW	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0044 a0001c0007t0005g0044	1	246	0.0041	c.279 others(3): Show c.279G>A	p.Ala others(5): Show p.Ala93Ala	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	3/13	435/8980	279/2871	93/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94800180	C C	T T	synonymous_variant synonymous_variant	LOW	HG02486.hp1 HG02970.hp1 HG03516.hp1 HG02486.hp1 HG02970.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0052 a0001c0005t0001 a0001c0005t0052	a0001c0005t0001g0014 a0001c0005t0052g0197 a0001c0005t0001g0014 a0001c0005t0052g0197	3	246	0.0122	c.990 others(3): Show c.990C>T	p.His others(6): Show p.His330His	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	3/13	1146/8980	990/2871	330/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94800207	C C	T T	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00558.hp1 HG00642.hp1 others(72): Show HG00280.hp1 HG00558.hp1 HG00642.hp1 HG00735.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02965.hp1 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG03688.hp2 HG03710.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18945.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18977.hp1 NA18980.hp1 NA18984.hp2 NA18985.hp2 NA18992.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0018 a0001c0020 others(1): Show a0001c0002 a0001c0018 a0001c0020 a0002c0019	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(15): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0014 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0002t0031 a0001c0002t0036 a0001c0002t0046 a0001c0002t0047 a0001c0018t0001 a0001c0020t0002 a0002c0019t0004	a0001c0002t0001g0006 a0001c0002t0001g0057 a0001c0002t0001g0059 others(70): Show a0001c0002t0001g0006 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0069 a0001c0002t0001g0101 a0001c0002t0002g0002 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0062 a0001c0002t0002g0152 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0003g0166 a0001c0002t0003g0191 a0001c0002t0006g0002 a0001c0002t0006g0012 a0001c0002t0006g0056 a0001c0002t0006g0061 a0001c0002t0006g0063 a0001c0002t0006g0090 a0001c0002t0006g0185 a0001c0002t0008g0011 a0001c0002t0008g0013 a0001c0002t0008g0098 a0001c0002t0008g0159 a0001c0002t0008g0161 a0001c0002t0008g0184 a0001c0002t0012g0096 a0001c0002t0012g0097 a0001c0002t0012g0105 a0001c0002t0014g0058 a0001c0002t0014g0137 a0001c0002t0014g0164 a0001c0002t0014g0165 a0001c0002t0018g0060 a0001c0002t0018g0088 a0001c0002t0018g0139 a0001c0002t0019g0102 a0001c0002t0019g0104 a0001c0002t0023g0099 a0001c0002t0023g0100 a0001c0002t0024g0037 a0001c0002t0024g0111 a0001c0002t0031g0226 a0001c0002t0036g0089 a0001c0002t0046g0190 a0001c0002t0047g0095 a0001c0018t0001g0179 a0001c0020t0002g0173 a0002c0019t0004g0103	75	246	0.3049	c.101 others(4): Show c.1017C>T	p.Pro others(6): Show p.Pro339Pro	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	3/13	1173/8980	1017/2871	339/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94800309	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02602.hp2 HG02683.hp2 HG02738.hp2 others(1): Show HG02602.hp2 HG02683.hp2 HG02738.hp2 HG04204.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0037 a0003c0004t0041 others(1): Show a0003c0004t0021 a0003c0004t0037 a0003c0004t0041 a0003c0004t0043	a0003c0004t0021g0222 a0003c0004t0037g0211 a0003c0004t0041g0210 others(1): Show a0003c0004t0021g0222 a0003c0004t0037g0211 a0003c0004t0041g0210 a0003c0004t0043g0223	4	246	0.0163	c.111 others(4): Show c.1119G>A	p.Thr others(6): Show p.Thr373Thr	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	3/13	1275/8980	1119/2871	373/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94850226	C C	T T	synonymous_variant synonymous_variant	LOW	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0173 a0001c0020t0002g0173	1	246	0.0041	c.176 others(4): Show c.1761C>T	p.Asn others(6): Show p.Asn587Asn	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	7/13	1917/8980	1761/2871	587/956	chr11	TogoVar

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