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
AMBN_chr4_70587256_70612288	70599585	G G	T T	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0022 a0022	a0022c0032 a0022c0032	a0022c0032t0001 a0022c0032t0001	a0022c0032t0001g0104 a0022c0032t0001g0104	1	480	0.0021	c.233 others(3): Show c.233G>T	p.Gly others(5): Show p.Gly78Val	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	5/13	336/2005	233/1344	78/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70601428	C C	A A	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02622.hp1 HG02818.hp2 HG01891.hp2 HG02622.hp1 HG02818.hp2	a0013 a0022 a0013 a0022	a0013c0014 a0022c0032 a0013c0014 a0022c0032	a0013c0014t0001 a0022c0032t0001 a0013c0014t0001 a0022c0032t0001	a0013c0014t0001g0102 a0013c0014t0001g0103 a0022c0032t0001g0104 a0013c0014t0001g0102 a0013c0014t0001g0103 a0022c0032t0001g0104	3	480	0.0063	c.305 others(3): Show c.305C>A	p.Ser others(6): Show p.Ser102Tyr	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	6/13	408/2005	305/1344	102/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70603437	G G	A A	missense_variant missense_variant	MODERATE	HG02698.hp2 HG03710.hp2 HG04184.hp1 others(1): Show HG02698.hp2 HG03710.hp2 HG04184.hp1 HG04228.hp1	a0009 a0015 a0009 a0015	a0009c0015 a0009c0021 a0015c0020 a0009c0015 a0009c0021 a0015c0020	a0009c0015t0002 a0009c0021t0001 a0015c0020t0001 a0009c0015t0002 a0009c0021t0001 a0015c0020t0001	a0009c0015t0002g0143 a0009c0015t0002g0144 a0009c0021t0001g0153 others(1): Show a0009c0015t0002g0143 a0009c0015t0002g0144 a0009c0021t0001g0153 a0015c0020t0001g0229	4	480	0.0083	c.730 others(3): Show c.730G>A	p.Val others(6): Show p.Val244Met	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	11/13	833/2005	730/1344	244/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70603887	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00323.hp1 HG00597.hp1 others(46): Show HG00280.hp2 HG00323.hp1 HG00597.hp1 HG00609.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01978.hp1 HG02040.hp1 HG02132.hp1 HG02135.hp2 HG02647.hp2 HG02922.hp2 HG03239.hp2 HG03491.hp2 HG03516.hp2 HG03669.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18949.hp2 NA18950.hp1 NA18955.hp2 NA18960.hp1 NA18967.hp2 NA18972.hp2 NA18988.hp2 NA18993.hp2 NA19002.hp1 NA19003.hp2 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19068.hp1 NA19081.hp2 NA19082.hp1 NA20300.hp2 NA20805.hp2	a0002 a0020 a0021 a0002 a0020 a0021	a0002c0003 a0002c0005 a0002c0018 others(2): Show a0002c0003 a0002c0005 a0002c0018 a0020c0031 a0021c0030	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(6): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0005t0002 a0002c0005t0004 a0002c0005t0006 a0002c0018t0002 a0020c0031t0004 a0021c0030t0006	a0002c0003t0001g0006 a0002c0003t0001g0017 a0002c0003t0001g0028 others(30): Show a0002c0003t0001g0006 a0002c0003t0001g0017 a0002c0003t0001g0028 a0002c0003t0001g0040 a0002c0003t0001g0075 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0082 a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0003t0001g0092 a0002c0003t0001g0105 a0002c0003t0001g0140 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0221 a0002c0003t0001g0224 a0002c0003t0002g0142 a0002c0003t0003g0017 a0002c0003t0003g0083 a0002c0005t0002g0006 a0002c0005t0002g0016 a0002c0005t0002g0017 a0002c0005t0002g0028 a0002c0005t0002g0090 a0002c0005t0002g0121 a0002c0005t0002g0169 a0002c0005t0004g0137 a0002c0005t0006g0231 a0002c0018t0002g0006 a0020c0031t0004g0162 a0021c0030t0006g0141	49	480	0.1021	c.764 others(3): Show c.764C>T	p.Ala others(6): Show p.Ala255Val	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	12/13	867/2005	764/1344	255/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606188	G G	A A	missense_variant missense_variant	MODERATE	HG04204.hp1 HG04204.hp1	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0006 a0021c0030t0006	a0021c0030t0006g0141 a0021c0030t0006g0141	1	480	0.0021	c.802 others(3): Show c.802G>A	p.Gly others(6): Show p.Gly268Arg	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	905/2005	802/1344	268/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606203	A A	G G	missense_variant missense_variant	MODERATE	HG04204.hp1 HG04204.hp1	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0006 a0021c0030t0006	a0021c0030t0006g0141 a0021c0030t0006g0141	1	480	0.0021	c.817 others(3): Show c.817A>G	p.Met others(6): Show p.Met273Val	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	920/2005	817/1344	273/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606212	G G	A A	missense_variant missense_variant	MODERATE	NA18969.hp2 NA18969.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0001 a0018c0022t0001g0001	1	480	0.0021	c.826 others(3): Show c.826G>A	p.Gly others(6): Show p.Gly276Arg	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	929/2005	826/1344	276/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606241	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02280.hp2 HG02630.hp1 others(9): Show HG01243.hp1 HG02280.hp2 HG02630.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp2	a0003 a0010 a0003 a0010	a0003c0007 a0003c0008 a0003c0027 others(1): Show a0003c0007 a0003c0008 a0003c0027 a0010c0019	a0003c0007t0006 a0003c0008t0002 a0003c0027t0002 others(1): Show a0003c0007t0006 a0003c0008t0002 a0003c0027t0002 a0010c0019t0002	a0003c0007t0006g0025 a0003c0007t0006g0117 a0003c0007t0006g0125 others(6): Show a0003c0007t0006g0025 a0003c0007t0006g0117 a0003c0007t0006g0125 a0003c0008t0002g0069 a0003c0008t0002g0106 a0003c0008t0002g0108 a0003c0008t0002g0148 a0003c0027t0002g0209 a0010c0019t0002g0063	12	480	0.0250	c.855 others(3): Show c.855G>A	p.Met others(6): Show p.Met285Ile	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	958/2005	855/1344	285/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606248	G G	A A	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03492.hp1 HG04184.hp1 HG03491.hp1 HG03492.hp1 HG04184.hp1	a0012 a0015 a0012 a0015	a0012c0016 a0015c0020 a0012c0016 a0015c0020	a0012c0016t0001 a0015c0020t0001 a0012c0016t0001 a0015c0020t0001	a0012c0016t0001g0002 a0015c0020t0001g0229 a0012c0016t0001g0002 a0015c0020t0001g0229	3	480	0.0063	c.862 others(3): Show c.862G>A	p.Gly others(6): Show p.Gly288Ser	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	965/2005	862/1344	288/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606268	C C	A A	missense_variant missense_variant	MODERATE	HG01243.hp2 HG02572.hp1 HG02896.hp1 others(2): Show HG01243.hp2 HG02572.hp1 HG02896.hp1 HG03098.hp2 NA19043.hp1	a0006 a0006	a0006c0009 a0006c0023 a0006c0009 a0006c0023	a0006c0009t0002 a0006c0023t0002 a0006c0009t0002 a0006c0023t0002	a0006c0009t0002g0030 a0006c0009t0002g0138 a0006c0023t0002g0198 a0006c0009t0002g0030 a0006c0009t0002g0138 a0006c0023t0002g0198	5	480	0.0104	c.882 others(3): Show c.882C>A	p.His others(6): Show p.His294Gln	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	985/2005	882/1344	294/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606336	A A	C C	missense_variant missense_variant	MODERATE	HG02451.hp2 NA18906.hp1 HG02451.hp2 NA18906.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0005 a0011c0017t0005	a0011c0017t0005g0107 a0011c0017t0005g0131 a0011c0017t0005g0107 a0011c0017t0005g0131	2	480	0.0042	c.950 others(3): Show c.950A>C	p.Glu others(6): Show p.Glu317Ala	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	1053/2005	950/1344	317/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606372	C C	T T	missense_variant missense_variant	MODERATE	NA18972.hp1 NA18984.hp2 NA19004.hp2 others(3): Show NA18972.hp1 NA18984.hp2 NA19004.hp2 NA19070.hp2 NA19072.hp1 NA19084.hp2	a0005 a0005	a0005c0011 a0005c0012 a0005c0011 a0005c0012	a0005c0011t0002 a0005c0012t0002 a0005c0011t0002 a0005c0012t0002	a0005c0011t0002g0036 a0005c0012t0002g0087 a0005c0012t0002g0158 others(1): Show a0005c0011t0002g0036 a0005c0012t0002g0087 a0005c0012t0002g0158 a0005c0012t0002g0215	6	480	0.0125	c.986 others(3): Show c.986C>T	p.Pro others(6): Show p.Pro329Leu	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	1089/2005	986/1344	329/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606447	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00735.hp1 HG01175.hp2 others(1): Show HG00099.hp2 HG00735.hp1 HG01175.hp2 HG03017.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0003 a0007c0010t0001g0182 a0007c0010t0001g0190 others(1): Show a0007c0010t0001g0003 a0007c0010t0001g0182 a0007c0010t0001g0190 a0007c0010t0001g0195	4	480	0.0083	c.106 others(4): Show c.1061T>C	p.Leu others(6): Show p.Leu354Pro	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	1164/2005	1061/1344	354/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606518	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG02145.hp1 HG02572.hp2 others(5): Show HG01109.hp2 HG02145.hp1 HG02572.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 NA19043.hp2	a0004 a0020 a0004 a0020	a0004c0006 a0020c0031 a0004c0006 a0020c0031	a0004c0006t0002 a0004c0006t0004 a0020c0031t0004 a0004c0006t0002 a0004c0006t0004 a0020c0031t0004	a0004c0006t0002g0049 a0004c0006t0002g0052 a0004c0006t0002g0129 others(5): Show a0004c0006t0002g0049 a0004c0006t0002g0052 a0004c0006t0002g0129 a0004c0006t0004g0070 a0004c0006t0004g0161 a0004c0006t0004g0167 a0004c0006t0004g0180 a0020c0031t0004g0162	8	480	0.0167	c.113 others(4): Show c.1132G>A	p.Val others(6): Show p.Val378Ile	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	1235/2005	1132/1344	378/447	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606692	G G	A A	missense_variant missense_variant	MODERATE	NA19010.hp2 NA19010.hp2	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0001 a0016c0025t0001	a0016c0025t0001g0015 a0016c0025t0001g0015	1	480	0.0021	c.130 others(4): Show c.1306G>A	p.Glu others(6): Show p.Glu436Lys	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	1409/2005	1306/1344	436/447	chr4	TogoVar
AMBP_chr9_114055127_114083300	114060253	G G	A A	missense_variant missense_variant	MODERATE	HG04184.hp1 HG04184.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0069 a0003c0008t0001g0069	1	454	0.0022	c.104 others(4): Show c.1045C>T	p.Arg others(6): Show p.Arg349Cys	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	10/10	1136/1262	1045/1059	349/352	chr9	TogoVar
AMBP_chr9_114055127_114083300	114061486	C C	T T	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0061 a0004c0007t0001g0061	1	454	0.0022	c.791 others(3): Show c.791G>A	p.Cys others(6): Show p.Cys264Tyr	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	8/10	882/1262	791/1059	264/352	chr9	TogoVar
AMBP_chr9_114055127_114083300	114069727	T T	C C	missense_variant missense_variant	MODERATE	HG02738.hp2 HG04115.hp2 HG04204.hp1 others(1): Show HG02738.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0056 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0056 a0002c0003t0001g0261 a0002c0003t0001g0262	4	454	0.0088	c.575 others(3): Show c.575A>G	p.Glu others(6): Show p.Glu192Gly	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	6/10	666/1262	575/1059	192/352	chr9	TogoVar
AMBP_chr9_114055127_114083300	114076638	C C	T T	missense_variant missense_variant	MODERATE	NA18942.hp1 NA18942.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0072 a0005c0006t0001g0072	1	454	0.0022	c.220 others(3): Show c.220G>A	p.Ala others(5): Show p.Ala74Thr	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	2/10	311/1262	220/1059	74/352	chr9	TogoVar
AMBRA1_chr11_46391414_46599023	46397691	C C	T T	missense_variant missense_variant	MODERATE	HG04115.hp2 HG04115.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0058 a0005c0007t0001g0058	1	160	0.0063	c.365 others(4): Show c.3656G>A	p.Gly others(7): Show p.Gly1219Glu	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	18/18	3972/5249	3656/3897	1219/1298	chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46408531	C C	A A	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01257.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0097 a0006c0008t0001g0097	1	160	0.0063	c.338 others(4): Show c.3385G>T	p.Ala others(7): Show p.Ala1129Ser	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	17/18	3701/5249	3385/3897	1129/1298	chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46542503	C C	T T	missense_variant missense_variant	MODERATE	HG03491.hp2 HG03491.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0089 a0004c0006t0001g0089	1	160	0.0063	c.151 others(4): Show c.1514G>A	p.Arg others(6): Show p.Arg505His	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/18	1830/5249	1514/3897	505/1298	chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46543262	G G	A A	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0149 a0003c0010t0002g0149	1	160	0.0063	c.755 others(3): Show c.755C>T	p.Ser others(6): Show p.Ser252Phe	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/18	1071/5249	755/3897	252/1298	chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46545683	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0118 a0002c0011t0001g0118	1	160	0.0063	c.472 others(3): Show c.472A>G	p.Asn others(6): Show p.Asn158Asp	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	5/18	788/5249	472/3897	158/1298	chr11	TogoVar
AMD1_chr6_110869785_110900713	110893489	G G	A A	missense_variant missense_variant	MODERATE	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0100 a0002c0002t0002g0100	1	394	0.0025	c.878 others(3): Show c.878G>A	p.Arg others(6): Show p.Arg293His	AMD1	ENSG00000123505.19	transcript	ENST00000368885.8	protein_coding	9/9	1199/3423	878/1005	293/334	chr6	TogoVar
AMDHD1_chr12_95938331_95973720	95943405	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(309): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.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.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0003c0006 a0005c0010 a0006c0012 a0007c0013 a0008c0014 a0009c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(19): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0004t0002 a0001c0007t0001 a0001c0008t0001 a0001c0011t0002 a0003c0006t0002 a0005c0010t0001 a0006c0012t0002 a0007c0013t0006 a0008c0014t0003 a0009c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(228): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0005g0121 a0001c0001t0005g0145 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0153 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0195 a0001c0001t0007g0116 a0001c0001t0007g0138 a0001c0001t0010g0017 a0001c0001t0011g0202 a0001c0001t0012g0006 a0001c0001t0013g0193 a0001c0001t0014g0026 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0047 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0260 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0282 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0006g0045 a0001c0002t0008g0295 a0001c0004t0002g0266 a0001c0004t0002g0267 a0001c0004t0002g0283 a0001c0007t0001g0005 a0001c0008t0001g0038 a0001c0011t0002g0284 a0003c0006t0002g0245 a0003c0006t0002g0248 a0005c0010t0001g0039 a0006c0012t0002g0259 a0007c0013t0006g0046 a0008c0014t0003g0048 a0009c0009t0001g0006	312	404	0.7723	c.7A> others(1): Show c.7A>G	p.Ser others(4): Show p.Ser3Gly	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/9	75/2226	7/1281	3/426	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95952765	G G	T T	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0039 a0005c0010t0001g0039	1	404	0.0025	c.186 others(3): Show c.186G>T	p.Gln others(5): Show p.Gln62His	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	2/9	254/2226	186/1281	62/426	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95956749	G G	A A	missense_variant missense_variant	MODERATE	NA19003.hp1 NA19003.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0259 a0006c0012t0002g0259	1	404	0.0025	c.374 others(3): Show c.374G>A	p.Arg others(6): Show p.Arg125His	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	4/9	442/2226	374/1281	125/426	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95960458	G G	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02109.hp1 HG01884.hp2 HG02109.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0245 a0003c0006t0002g0248 a0003c0006t0002g0245 a0003c0006t0002g0248	2	404	0.0050	c.648 others(3): Show c.648G>T	p.Lys others(6): Show p.Lys216Asn	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	5/9	716/2226	648/1281	216/426	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95960501	G G	A A	missense_variant missense_variant	MODERATE	HG02074.hp1 HG02074.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0006 a0007c0013t0006	a0007c0013t0006g0046 a0007c0013t0006g0046	1	404	0.0025	c.691 others(3): Show c.691G>A	p.Val others(6): Show p.Val231Ile	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	5/9	759/2226	691/1281	231/426	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95960555	C C	T T	missense_variant missense_variant	MODERATE	HG03834.hp2 HG03834.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0003 a0008c0014t0003	a0008c0014t0003g0048 a0008c0014t0003g0048	1	404	0.0025	c.745 others(3): Show c.745C>T	p.Arg others(6): Show p.Arg249Cys	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	5/9	813/2226	745/1281	249/426	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95966354	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp2 HG02735.hp1 HG00323.hp2 HG02735.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0063 a0004c0005t0001g0064 a0004c0005t0001g0063 a0004c0005t0001g0064	2	404	0.0050	c.103 others(4): Show c.1039G>A	p.Val others(6): Show p.Val347Ile	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	8/9	1107/2226	1039/1281	347/426	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95966377	C C	G G	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0006 a0009c0009t0001g0006	1	404	0.0025	c.106 others(4): Show c.1062C>G	p.Asn others(6): Show p.Asn354Lys	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	8/9	1130/2226	1062/1281	354/426	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95966394	C C	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02109.hp1 HG01884.hp2 HG02109.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0245 a0003c0006t0002g0248 a0003c0006t0002g0245 a0003c0006t0002g0248	2	404	0.0050	c.107 others(4): Show c.1079C>A	p.Pro others(6): Show p.Pro360His	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	8/9	1147/2226	1079/1281	360/426	chr12	TogoVar
AMDHD2_chr16_2515371_2536417	2527853	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0001 a0003c0005t0001g0001	1	318	0.0031	c.496 others(3): Show c.496G>A	p.Asp others(6): Show p.Asp166Asn	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding	5/11	584/3172	496/1230	166/409	chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2528329	A A	G G	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0002 a0002c0004t0005g0002	2	318	0.0063	c.811 others(3): Show c.811A>G	p.Thr others(6): Show p.Thr271Ala	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding	7/11	899/3172	811/1230	271/409	chr16	TogoVar
AMELX_chrX_11288413_11305761	11298839	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02886.hp1 HG03225.hp1 HG02630.hp1 HG02886.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	3	300	0.0100	c.436 others(3): Show c.436G>T	p.Val others(6): Show p.Val146Leu	AMELX	ENSG00000125363.14	transcript	ENST00000380714.7	protein_coding	5/6	504/793	436/576	146/191	chrX	TogoVar
AMELY_chrY_6860918_6916752	6868113	C C	T T	missense_variant missense_variant	MODERATE	NA18944.hp1 NA18948.hp1 NA18967.hp1 others(5): Show NA18944.hp1 NA18948.hp1 NA18967.hp1 NA18983.hp1 NA19012.hp1 NA19058.hp1 NA19068.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0062 others(4): Show a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0001g0073 a0002c0002t0001g0088 a0002c0002t0001g0089	8	131	0.0611	c.497 others(3): Show c.497G>A	p.Arg others(6): Show p.Arg166Gln	AMELY	ENSG00000099721.16	transcript	ENST00000651267.2	protein_coding	6/7	689/926	497/579	166/192	chrY	TogoVar
AMELY_chrY_6860918_6916752	6868402	C C	T T	missense_variant missense_variant	MODERATE	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0036 a0003c0003t0001g0036	1	131	0.0076	c.208 others(3): Show c.208G>A	p.Val others(5): Show p.Val70Met	AMELY	ENSG00000099721.16	transcript	ENST00000651267.2	protein_coding	6/7	400/926	208/579	70/192	chrY	TogoVar
AMER1_chrX_64180117_64210708	64190351	T T	C C	missense_variant missense_variant	MODERATE	NA19090.hp2 NA19090.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0098 a0009c0014t0001g0098	1	243	0.0041	c.293 others(4): Show c.2936A>G	p.Gln others(6): Show p.Gln979Arg	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	3173/8407	2936/3408	979/1135	chrX	TogoVar
AMER1_chrX_64180117_64210708	64190636	G G	A A	missense_variant missense_variant	MODERATE	HG03041.hp1 HG03041.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0036 a0008c0015t0036	a0008c0015t0036g0143 a0008c0015t0036g0143	1	243	0.0041	c.265 others(4): Show c.2651C>T	p.Pro others(6): Show p.Pro884Leu	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	2888/8407	2651/3408	884/1135	chrX	TogoVar
AMER1_chrX_64180117_64210708	64191449	G G	T T	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0027 a0011c0011t0027	a0011c0011t0027g0063 a0011c0011t0027g0063	1	243	0.0041	c.183 others(4): Show c.1838C>A	p.Ala others(6): Show p.Ala613Asp	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	2075/8407	1838/3408	613/1135	chrX	TogoVar
AMER1_chrX_64180117_64210708	64192411	C C	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG06807.hp2 HG03130.hp1 HG06807.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0026 a0004c0005t0010 a0004c0005t0026	a0004c0005t0010g0065 a0004c0005t0026g0060 a0004c0005t0010g0065 a0004c0005t0026g0060	2	243	0.0082	c.876 others(3): Show c.876G>C	p.Lys others(6): Show p.Lys292Asn	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	1113/8407	876/3408	292/1135	chrX	TogoVar
AMER1_chrX_64180117_64210708	64192455	C C	A A	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02615.hp2 HG02109.hp1 HG02615.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0048 a0005c0006t0050 a0005c0006t0048 a0005c0006t0050	a0005c0006t0048g0073 a0005c0006t0050g0074 a0005c0006t0048g0073 a0005c0006t0050g0074	2	243	0.0082	c.832 others(3): Show c.832G>T	p.Ala others(6): Show p.Ala278Ser	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	1069/8407	832/3408	278/1135	chrX	TogoVar
AMER1_chrX_64180117_64210708	64192497	C C	T T	missense_variant missense_variant	MODERATE	NA19087.hp2 NA19087.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0008 a0010c0013t0008	a0010c0013t0008g0094 a0010c0013t0008g0094	1	243	0.0041	c.790 others(3): Show c.790G>A	p.Ala others(6): Show p.Ala264Thr	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	1027/8407	790/3408	264/1135	chrX	TogoVar
AMER1_chrX_64180117_64210708	64192810	A A	C C	missense_variant missense_variant	MODERATE	HG00738.hp1 HG01167.hp1 HG01169.hp1 others(39): Show HG00738.hp1 HG01167.hp1 HG01169.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0011	a0002c0002 a0002c0012 a0004c0005 others(2): Show a0002c0002 a0002c0012 a0004c0005 a0005c0006 a0011c0011	a0002c0002t0003 a0002c0002t0010 a0002c0002t0011 others(21): Show a0002c0002t0003 a0002c0002t0010 a0002c0002t0011 a0002c0002t0016 a0002c0002t0017 a0002c0002t0025 a0002c0002t0027 a0002c0002t0047 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0055 a0002c0002t0058 a0002c0002t0059 a0002c0002t0060 a0002c0002t0091 a0002c0002t0092 a0002c0002t0093 a0002c0012t0026 a0004c0005t0010 a0004c0005t0026 a0005c0006t0048 a0005c0006t0050 a0011c0011t0027	a0002c0002t0003g0006 a0002c0002t0003g0015 a0002c0002t0003g0016 others(30): Show a0002c0002t0003g0006 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0057 a0002c0002t0010g0014 a0002c0002t0010g0064 a0002c0002t0011g0017 a0002c0002t0011g0037 a0002c0002t0011g0069 a0002c0002t0016g0013 a0002c0002t0016g0056 a0002c0002t0017g0018 a0002c0002t0017g0058 a0002c0002t0025g0055 a0002c0002t0025g0068 a0002c0002t0027g0062 a0002c0002t0047g0067 a0002c0002t0051g0038 a0002c0002t0052g0051 a0002c0002t0053g0171 a0002c0002t0055g0061 a0002c0002t0058g0070 a0002c0002t0059g0152 a0002c0002t0060g0066 a0002c0002t0091g0071 a0002c0002t0092g0075 a0002c0002t0093g0072 a0002c0012t0026g0050 a0004c0005t0010g0065 a0004c0005t0026g0060 a0005c0006t0048g0073 a0005c0006t0050g0074 a0011c0011t0027g0063	42	243	0.1728	c.477 others(3): Show c.477T>G	p.Phe others(6): Show p.Phe159Leu	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	714/8407	477/3408	159/1135	chrX	TogoVar
AMER1_chrX_64180117_64210708	64193194	G G	T T	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00423.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0014 a0007c0010t0014	a0007c0010t0014g0081 a0007c0010t0014g0081	1	243	0.0041	c.93C others(2): Show c.93C>A	p.Asn others(5): Show p.Asn31Lys	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	330/8407	93/3408	31/1135	chrX	TogoVar
AMER1_chrX_64180117_64210708	64193196	T T	C C	missense_variant missense_variant	MODERATE	HG01975.hp2 HG01975.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0002 a0006c0018t0002	a0006c0018t0002g0151 a0006c0018t0002g0151	1	243	0.0041	c.91A others(2): Show c.91A>G	p.Asn others(5): Show p.Asn31Asp	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	328/8407	91/3408	31/1135	chrX	TogoVar
AMER1_chrX_64180117_64210708	64193202	C C	T T	missense_variant missense_variant	MODERATE	HG00621.hp1 NA18943.hp1 NA18964.hp2 others(6): Show HG00621.hp1 NA18943.hp1 NA18964.hp2 NA18970.hp1 NA18981.hp1 NA18983.hp1 NA18994.hp1 NA19012.hp1 NA19089.hp2	a0003 a0012 a0003 a0012	a0003c0004 a0012c0009 a0003c0004 a0012c0009	a0003c0004t0004 a0003c0004t0012 a0003c0004t0023 others(3): Show a0003c0004t0004 a0003c0004t0012 a0003c0004t0023 a0003c0004t0030 a0003c0004t0043 a0012c0009t0070	a0003c0004t0004g0108 a0003c0004t0012g0009 a0003c0004t0012g0080 others(4): Show a0003c0004t0004g0108 a0003c0004t0012g0009 a0003c0004t0012g0080 a0003c0004t0023g0109 a0003c0004t0030g0107 a0003c0004t0043g0106 a0012c0009t0070g0087	9	243	0.0370	c.85G others(2): Show c.85G>A	p.Ala others(5): Show p.Ala29Thr	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	322/8407	85/3408	29/1135	chrX	TogoVar
AMER2_chr13_25156679_25177288	25169610	C C	G G	missense_variant missense_variant	MODERATE	HG01175.hp1 HG01175.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0000 a0007c0010t0003g0000	1	416	0.0024	c.201 others(4): Show c.2010G>C	p.Lys others(6): Show p.Lys670Asn	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	2679/10610	2010/2016	670/671	chr13	TogoVar

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