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
AMT_chr3_49411778_49427473	49419325	C C	T T	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01168.hp1 HG01256.hp2 others(1): Show HG00642.hp2 HG01168.hp1 HG01256.hp2 HG01258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0013 a0002c0003t0001g0030 a0002c0003t0001g0013 a0002c0003t0001g0030	4	358	0.0112	c.631 others(3): Show c.631G>A	p.Glu others(6): Show p.Glu211Lys	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	6/9	654/1997	631/1212	211/403	chr3	TogoVar
AMT_chr3_49411778_49427473	49422148	T T	C C	missense_variant missense_variant	MODERATE	NA18949.hp1 NA18949.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0042 a0004c0011t0001g0042	1	358	0.0028	c.214 others(3): Show c.214A>G	p.Thr others(5): Show p.Thr72Ala	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	2/9	237/1997	214/1212	72/403	chr3	TogoVar
AMT_chr3_49411778_49427473	49422214	C C	A A	missense_variant missense_variant	MODERATE	NA18954.hp1 NA19080.hp2 NA18954.hp1 NA19080.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0017 a0003c0004t0002g0017	2	358	0.0056	c.148 others(3): Show c.148G>T	p.Val others(5): Show p.Val50Leu	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	2/9	171/1997	148/1212	50/403	chr3	TogoVar
AMY1A_chr1_103650760_103669554	103656350	T T	G G	missense_variant missense_variant	MODERATE	HG02602.hp1 HG02602.hp1	a0012 a0012	a0012c0005 a0012c0005	a0012c0005t0001 a0012c0005t0001	a0012c0005t0001g0065 a0012c0005t0001g0065	1	230	0.0044	c.20T others(2): Show c.20T>G	p.Leu others(4): Show p.Leu7Arg	AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	2/11	235/1785	20/1536	7/511	chr1	TogoVar
AMY1A_chr1_103650760_103669554	103656868	G G	A A	missense_variant missense_variant	MODERATE	NA18985.hp2 NA18985.hp2	a0011 a0011	a0011c0006 a0011c0006	a0011c0006t0001 a0011c0006t0001	a0011c0006t0001g0034 a0011c0006t0001g0034	1	230	0.0044	c.193 others(3): Show c.193G>A	p.Ala others(5): Show p.Ala65Thr	AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	3/11	408/1785	193/1536	65/511	chr1	TogoVar
AMY1A_chr1_103650760_103669554	103656893	G G	T T	missense_variant missense_variant	MODERATE	NA18973.hp1 NA18973.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0001 a0003c0017t0001g0001	1	230	0.0044	c.218 others(3): Show c.218G>T	p.Trp others(5): Show p.Trp73Leu	AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	3/11	433/1785	218/1536	73/511	chr1	TogoVar
AMY1A_chr1_103650760_103669554	103656920	A A	G G	missense_variant missense_variant	MODERATE	NA18957.hp1 NA18957.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0010 a0004c0016t0001g0010	1	230	0.0044	c.245 others(3): Show c.245A>G	p.Tyr others(5): Show p.Tyr82Cys	AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	3/11	460/1785	245/1536	82/511	chr1	TogoVar
AMY1A_chr1_103650760_103669554	103658483	G G	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0001 a0005c0008t0001g0001	1	230	0.0044	c.557 others(3): Show c.557G>C	p.Gly others(6): Show p.Gly186Ala	AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	5/11	772/1785	557/1536	186/511	chr1	TogoVar
AMY1A_chr1_103650760_103669554	103658557	A A	C C	missense_variant missense_variant	MODERATE	HG01934.hp1 HG02965.hp2 HG01934.hp1 HG02965.hp2	a0009 a0010 a0009 a0010	a0009c0015 a0010c0014 a0009c0015 a0010c0014	a0009c0015t0001 a0010c0014t0001 a0009c0015t0001 a0010c0014t0001	a0009c0015t0001g0069 a0010c0014t0001g0070 a0009c0015t0001g0069 a0010c0014t0001g0070	2	230	0.0087	c.631 others(3): Show c.631A>C	p.Ile others(6): Show p.Ile211Leu	AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	5/11	846/1785	631/1536	211/511	chr1	TogoVar
AMY1A_chr1_103650760_103669554	103662765	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0043 a0006c0012t0001g0043	1	230	0.0044	c.121 others(4): Show c.1210C>T	p.Arg others(6): Show p.Arg404Cys	AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	9/11	1425/1785	1210/1536	404/511	chr1	TogoVar
AMY1A_chr1_103650760_103669554	103662771	A A	G G	missense_variant missense_variant	MODERATE	NA18940.hp2 NA18957.hp1 NA18940.hp2 NA18957.hp1	a0004 a0008 a0004 a0008	a0004c0016 a0008c0011 a0004c0016 a0008c0011	a0004c0016t0001 a0008c0011t0001 a0004c0016t0001 a0008c0011t0001	a0004c0016t0001g0010 a0008c0011t0001g0010 a0004c0016t0001g0010 a0008c0011t0001g0010	2	230	0.0087	c.121 others(4): Show c.1216A>G	p.Ile others(6): Show p.Ile406Val	AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	9/11	1431/1785	1216/1536	406/511	chr1	TogoVar
AMY1A_chr1_103650760_103669554	103662928	T T	G G	missense_variant missense_variant	MODERATE	HG02965.hp2 HG02965.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0070 a0010c0014t0001g0070	1	230	0.0044	c.126 others(4): Show c.1263T>G	p.Phe others(6): Show p.Phe421Leu	AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	10/11	1478/1785	1263/1536	421/511	chr1	TogoVar
AMY1A_chr1_103650760_103669554	103662974	G G	A A	missense_variant missense_variant	MODERATE	NA18986.hp1 NA18986.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0012 a0007c0009t0001g0012	1	230	0.0044	c.130 others(4): Show c.1309G>A	p.Gly others(6): Show p.Gly437Arg	AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	10/11	1524/1785	1309/1536	437/511	chr1	TogoVar
AMY1A_chr1_103650760_103669554	103664434	G G	A A	missense_variant missense_variant	MODERATE	HG02523.hp2 NA18962.hp1 HG02523.hp2 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0055 a0002c0002t0001g0039 a0002c0002t0001g0055	2	230	0.0087	c.145 others(4): Show c.1450G>A	p.Val others(6): Show p.Val484Ile	AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	11/11	1665/1785	1450/1536	484/511	chr1	TogoVar
AMY1B_chr1_103682415_103701210	103689070	A A	C C	missense_variant missense_variant	MODERATE	NA19058.hp1 NA19058.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0068 a0005c0009t0001g0068	1	160	0.0063	c.123 others(4): Show c.1234T>G	p.Phe others(6): Show p.Phe412Val	AMY1B	ENSG00000174876.17	transcript	ENST00000330330.10	protein_coding	10/11	1449/1785	1234/1536	412/511	chr1	TogoVar
AMY1B_chr1_103682415_103701210	103691346	A A	T T	missense_variant missense_variant	MODERATE	NA20905.hp1 NA20905.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0069 a0006c0007t0001g0069	1	160	0.0063	c.104 others(4): Show c.1049T>A	p.Phe others(6): Show p.Phe350Tyr	AMY1B	ENSG00000174876.17	transcript	ENST00000330330.10	protein_coding	8/11	1264/1785	1049/1536	350/511	chr1	TogoVar
AMY1B_chr1_103682415_103701210	103691528	C C	T T	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0045 a0007c0006t0001g0045	1	160	0.0063	c.961 others(3): Show c.961G>A	p.Gly others(6): Show p.Gly321Ser	AMY1B	ENSG00000174876.17	transcript	ENST00000330330.10	protein_coding	7/11	1176/1785	961/1536	321/511	chr1	TogoVar
AMY1B_chr1_103682415_103701210	103691557	A A	T T	missense_variant missense_variant	MODERATE	HG01258.hp2 HG01258.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0031 a0003c0005t0001g0031	1	160	0.0063	c.932 others(3): Show c.932T>A	p.Val others(6): Show p.Val311Glu	AMY1B	ENSG00000174876.17	transcript	ENST00000330330.10	protein_coding	7/11	1147/1785	932/1536	311/511	chr1	TogoVar
AMY1B_chr1_103682415_103701210	103692484	C C	T T	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03927.hp2 HG03654.hp1 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	2	160	0.0125	c.821 others(3): Show c.821G>A	p.Gly others(6): Show p.Gly274Asp	AMY1B	ENSG00000174876.17	transcript	ENST00000330330.10	protein_coding	6/11	1036/1785	821/1536	274/511	chr1	TogoVar
AMY1B_chr1_103682415_103701210	103693412	A A	G G	missense_variant missense_variant	MODERATE	HG02273.hp1 HG02273.hp1	a0008 a0008	a0008c0004 a0008c0004	a0008c0004t0001 a0008c0004t0001	a0008c0004t0001g0038 a0008c0004t0001g0038	1	160	0.0063	c.632 others(3): Show c.632T>C	p.Ile others(6): Show p.Ile211Thr	AMY1B	ENSG00000174876.17	transcript	ENST00000330330.10	protein_coding	5/11	847/1785	632/1536	211/511	chr1	TogoVar
AMY1B_chr1_103682415_103701210	103694101	C C	T T	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0009 a0009	a0009c0003 a0009c0003	a0009c0003t0001 a0009c0003t0001	a0009c0003t0001g0035 a0009c0003t0001g0035	1	160	0.0063	c.391 others(3): Show c.391G>A	p.Gly others(6): Show p.Gly131Arg	AMY1B	ENSG00000174876.17	transcript	ENST00000330330.10	protein_coding	4/11	606/1785	391/1536	131/511	chr1	TogoVar
AMY1C_chr1_103744898_103763692	103750573	G G	A A	missense_variant missense_variant	MODERATE	HG01169.hp2 HG03710.hp1 HG04204.hp2 HG01169.hp2 HG03710.hp1 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0003 a0002c0002t0002g0006	3	340	0.0088	c.104 others(3): Show c.104G>A	p.Arg others(5): Show p.Arg35Gln	AMY1C	ENSG00000187733.7	transcript	ENST00000622339.5	protein_coding	2/11	319/1785	104/1536	35/511	chr1	TogoVar
AMY1C_chr1_103744898_103763692	103751975	A A	G G	missense_variant missense_variant	MODERATE	HG02027.hp2 HG02027.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0048 a0004c0008t0001g0048	1	340	0.0029	c.358 others(3): Show c.358A>G	p.Asn others(6): Show p.Asn120Asp	AMY1C	ENSG00000187733.7	transcript	ENST00000622339.5	protein_coding	4/11	573/1785	358/1536	120/511	chr1	TogoVar
AMY1C_chr1_103744898_103763692	103752696	A A	C C	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0101 a0007c0007t0001g0101	1	340	0.0029	c.631 others(3): Show c.631A>C	p.Ile others(6): Show p.Ile211Leu	AMY1C	ENSG00000187733.7	transcript	ENST00000622339.5	protein_coding	5/11	846/1785	631/1536	211/511	chr1	TogoVar
AMY1C_chr1_103744898_103763692	103753655	G G	T T	missense_variant missense_variant	MODERATE	NA20805.hp2 NA20805.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0091 a0005c0006t0001g0091	1	340	0.0029	c.851 others(3): Show c.851G>T	p.Trp others(6): Show p.Trp284Leu	AMY1C	ENSG00000187733.7	transcript	ENST00000622339.5	protein_coding	6/11	1066/1785	851/1536	284/511	chr1	TogoVar
AMY1C_chr1_103744898_103763692	103758610	C C	G G	missense_variant missense_variant	MODERATE	HG02698.hp1 HG03239.hp2 HG03834.hp1 HG02698.hp1 HG03239.hp2 HG03834.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	3	340	0.0088	c.148 others(4): Show c.1488C>G	p.Asn others(6): Show p.Asn496Lys	AMY1C	ENSG00000187733.7	transcript	ENST00000622339.5	protein_coding	11/11	1703/1785	1488/1536	496/511	chr1	TogoVar
AMY2A_chr1_103612427_103630780	103618070	A A	T T	missense_variant missense_variant	MODERATE	NA18952.hp2 NA18952.hp2	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0001 a0014c0020t0001	a0014c0020t0001g0001 a0014c0020t0001g0001	1	312	0.0032	c.285 others(3): Show c.285A>T	p.Arg others(5): Show p.Arg95Ser	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	2/10	299/1584	285/1536	95/511	chr1	TogoVar
AMY2A_chr1_103612427_103630780	103618081	C C	A A	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02896.hp2 HG02717.hp2 HG02896.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0005 a0004c0007t0001g0005	2	312	0.0064	c.296 others(3): Show c.296C>A	p.Thr others(5): Show p.Thr99Asn	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	2/10	310/1584	296/1536	99/511	chr1	TogoVar
AMY2A_chr1_103612427_103630780	103619008	G G	A A	missense_variant missense_variant	MODERATE	HG02071.hp2 HG02071.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0001 a0006c0012t0001g0001	1	312	0.0032	c.413 others(3): Show c.413G>A	p.Ser others(6): Show p.Ser138Asn	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	3/10	427/1584	413/1536	138/511	chr1	TogoVar
AMY2A_chr1_103612427_103630780	103619028	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0003 a0013c0019t0001g0003	1	312	0.0032	c.433 others(3): Show c.433C>T	p.Pro others(6): Show p.Pro145Ser	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	3/10	447/1584	433/1536	145/511	chr1	TogoVar
AMY2A_chr1_103612427_103630780	103619572	A A	T T	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01891.hp1 HG02647.hp2 others(7): Show HG01109.hp2 HG01891.hp1 HG02647.hp2 HG02965.hp1 HG02970.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0003 a0003c0004t0001g0011 a0003c0004t0001g0012 others(5): Show a0003c0004t0001g0003 a0003c0004t0001g0011 a0003c0004t0001g0012 a0003c0004t0001g0029 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0033 a0003c0004t0001g0037	10	312	0.0321	c.532 others(3): Show c.532A>T	p.Thr others(6): Show p.Thr178Ser	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	4/10	546/1584	532/1536	178/511	chr1	TogoVar
AMY2A_chr1_103612427_103630780	103619671	C C	T T	missense_variant missense_variant	MODERATE	NA18955.hp2 NA18955.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0001 a0007c0018t0001g0001	1	312	0.0032	c.631 others(3): Show c.631C>T	p.Leu others(6): Show p.Leu211Phe	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	4/10	645/1584	631/1536	211/511	chr1	TogoVar
AMY2A_chr1_103612427_103630780	103619729	A A	G G	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01070.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0002 a0012c0017t0002	a0012c0017t0002g0017 a0012c0017t0002g0017	1	312	0.0032	c.689 others(3): Show c.689A>G	p.His others(6): Show p.His230Arg	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	4/10	703/1584	689/1536	230/511	chr1	TogoVar
AMY2A_chr1_103612427_103630780	103620644	G G	A A	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00639.hp2 HG00642.hp1 others(47): Show HG00544.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01934.hp2 HG02040.hp2 HG02080.hp1 HG02129.hp2 HG02155.hp1 HG02280.hp2 HG02683.hp1 HG02886.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18747.hp2 NA18945.hp1 NA18948.hp2 NA18954.hp2 NA18956.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18981.hp2 NA18986.hp1 NA19004.hp2 NA19011.hp2 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19083.hp2 NA19086.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp2	a0002 a0012 a0002 a0012	a0002c0003 a0002c0006 a0002c0008 others(1): Show a0002c0003 a0002c0006 a0002c0008 a0012c0017	a0002c0003t0002 a0002c0006t0002 a0002c0008t0002 others(1): Show a0002c0003t0002 a0002c0006t0002 a0002c0008t0002 a0012c0017t0002	a0002c0003t0002g0002 a0002c0003t0002g0017 a0002c0003t0002g0019 others(8): Show a0002c0003t0002g0002 a0002c0003t0002g0017 a0002c0003t0002g0019 a0002c0003t0002g0036 a0002c0003t0002g0038 a0002c0003t0002g0042 a0002c0003t0002g0045 a0002c0003t0002g0068 a0002c0006t0002g0002 a0002c0008t0002g0002 a0012c0017t0002g0017	50	312	0.1603	c.838 others(3): Show c.838G>A	p.Val others(6): Show p.Val280Ile	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	5/10	852/1584	838/1536	280/511	chr1	TogoVar
AMY2A_chr1_103612427_103630780	103620666	A A	C C	missense_variant missense_variant	MODERATE	HG03453.hp2 HG03453.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0046 a0008c0016t0001g0046	1	312	0.0032	c.860 others(3): Show c.860A>C	p.Glu others(6): Show p.Glu287Ala	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	5/10	874/1584	860/1536	287/511	chr1	TogoVar
AMY2A_chr1_103612427_103630780	103621865	G G	A A	missense_variant missense_variant	MODERATE	NA18960.hp1 NA18990.hp1 NA18960.hp1 NA18990.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0001 a0005c0009t0001g0001	2	312	0.0064	c.107 others(4): Show c.1073G>A	p.Arg others(6): Show p.Arg358His	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	7/10	1087/1584	1073/1536	358/511	chr1	TogoVar
AMY2A_chr1_103612427_103630780	103621865	G G	T T	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02280.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0004 a0009c0015t0001g0004	1	312	0.0032	c.107 others(4): Show c.1073G>T	p.Arg others(6): Show p.Arg358Leu	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	7/10	1087/1584	1073/1536	358/511	chr1	TogoVar
AMY2A_chr1_103612427_103630780	103625703	C C	A A	missense_variant missense_variant	MODERATE	NA19002.hp2 NA19002.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0043 a0011c0013t0001g0043	1	312	0.0032	c.149 others(4): Show c.1493C>A	p.Ala others(6): Show p.Ala498Asp	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	10/10	1507/1584	1493/1536	498/511	chr1	TogoVar
AMY2B_chr1_103566589_103584534	103574275	G G	C C	missense_variant missense_variant	MODERATE	HG06807.hp1 HG06807.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0001 a0012c0007t0001	a0012c0007t0001g0017 a0012c0007t0001g0017	1	408	0.0025	c.760 others(3): Show c.760G>C	p.Gly others(6): Show p.Gly254Arg	AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	5/10	774/1584	760/1536	254/511	chr1	TogoVar
AMY2B_chr1_103566589_103584534	103574382	G G	A A	missense_variant missense_variant	MODERATE	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0006 a0003c0008t0001g0006	1	408	0.0025	c.867 others(3): Show c.867G>A	p.Met others(6): Show p.Met289Ile	AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	5/10	881/1584	867/1536	289/511	chr1	TogoVar
AMY2B_chr1_103566589_103584534	103575230	G G	A A	missense_variant missense_variant	MODERATE	HG01433.hp1 HG01433.hp1	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0001 a0011c0009t0001	a0011c0009t0001g0002 a0011c0009t0001g0002	1	408	0.0025	c.886 others(3): Show c.886G>A	p.Gly others(6): Show p.Gly296Arg	AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	6/10	900/1584	886/1536	296/511	chr1	TogoVar
AMY2B_chr1_103566589_103584534	103575297	G G	C C	missense_variant missense_variant	MODERATE	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0021 a0004c0010t0001g0021	1	408	0.0025	c.953 others(3): Show c.953G>C	p.Arg others(6): Show p.Arg318Pro	AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	6/10	967/1584	953/1536	318/511	chr1	TogoVar
AMY2B_chr1_103566589_103584534	103575299	G G	A A	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01358.hp1 HG01515.hp2 HG01074.hp2 HG01358.hp1 HG01515.hp2	a0002 a0002	a0002c0004 a0002c0011 a0002c0004 a0002c0011	a0002c0004t0001 a0002c0011t0001 a0002c0004t0001 a0002c0011t0001	a0002c0004t0001g0005 a0002c0011t0001g0005 a0002c0004t0001g0005 a0002c0011t0001g0005	3	408	0.0074	c.955 others(3): Show c.955G>A	p.Gly others(6): Show p.Gly319Arg	AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	6/10	969/1584	955/1536	319/511	chr1	TogoVar
AMY2B_chr1_103566589_103584534	103577534	T T	G G	missense_variant missense_variant	MODERATE	HG02056.hp2 HG02056.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0001 a0010c0012t0001g0001	1	408	0.0025	c.114 others(4): Show c.1146T>G	p.Ile others(6): Show p.Ile382Met	AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	8/10	1160/1584	1146/1536	382/511	chr1	TogoVar
AMY2B_chr1_103566589_103584534	103577566	G G	A A	missense_variant missense_variant	MODERATE	HG03041.hp1 HG03041.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0078 a0009c0013t0001g0078	1	408	0.0025	c.117 others(4): Show c.1178G>A	p.Cys others(6): Show p.Cys393Tyr	AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	8/10	1192/1584	1178/1536	393/511	chr1	TogoVar
AMY2B_chr1_103566589_103584534	103577731	A A	T T	missense_variant missense_variant	MODERATE	HG01433.hp2 HG01433.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0020 a0006c0017t0001g0020	1	408	0.0025	c.123 others(4): Show c.1232A>T	p.Asn others(6): Show p.Asn411Ile	AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	9/10	1246/1584	1232/1536	411/511	chr1	TogoVar
AMY2B_chr1_103566589_103584534	103579388	G G	A A	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0011 a0007c0015t0001g0011	1	408	0.0025	c.142 others(4): Show c.1424G>A	p.Gly others(6): Show p.Gly475Asp	AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	10/10	1438/1584	1424/1536	475/511	chr1	TogoVar
AMY2B_chr1_103566589_103584534	103579439	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0049 a0008c0016t0001g0049	1	408	0.0025	c.147 others(4): Show c.1475T>C	p.Phe others(6): Show p.Phe492Ser	AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	10/10	1489/1584	1475/1536	492/511	chr1	TogoVar
AMZ1_chr7_2683202_2724683	2700470	G G	A A	missense_variant missense_variant	MODERATE	NA19079.hp1 NA19085.hp2 NA19079.hp1 NA19085.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0042 a0010c0016t0042	a0010c0016t0042g0225 a0010c0016t0042g0265 a0010c0016t0042g0225 a0010c0016t0042g0265	2	438	0.0046	c.19G others(2): Show c.19G>A	p.Ala others(4): Show p.Ala7Thr	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	2/7	332/8615	19/1497	7/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2700600	C C	T T	missense_variant missense_variant	MODERATE	NA19088.hp1 NA19088.hp1	a0011 a0011	a0011c0054 a0011c0054	a0011c0054t0001 a0011c0054t0001	a0011c0054t0001g0361 a0011c0054t0001g0361	1	438	0.0023	c.149 others(3): Show c.149C>T	p.Pro others(5): Show p.Pro50Leu	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	2/7	462/8615	149/1497	50/498	chr7	TogoVar

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