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
AMH_chr19_2244323_2257073	2251818	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(425): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 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 HG00735.hp2 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 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 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.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 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 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 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 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 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 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.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 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 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 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 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 NA19088.hp2 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.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0005 a0001c0013 others(24): Show a0001c0001 a0001c0005 a0001c0013 a0001c0023 a0001c0027 a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0002c0011 a0002c0016 a0004c0012 a0005c0019 a0006c0020 a0007c0025 a0008c0024 a0009c0022 a0010c0026 a0011c0021 a0012c0018 a0013c0017 a0014c0015 a0015c0028 a0016c0014	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0013t0001 a0001c0023t0001 a0001c0027t0001 a0002c0002t0001 a0002c0003t0001 a0002c0004t0001 a0002c0006t0001 a0002c0007t0001 a0002c0009t0001 a0002c0010t0001 a0002c0011t0001 a0002c0016t0001 a0004c0012t0001 a0005c0019t0001 a0006c0020t0001 a0007c0025t0001 a0008c0024t0001 a0009c0022t0001 a0010c0026t0001 a0011c0021t0001 a0012c0018t0001 a0013c0017t0001 a0014c0015t0001 a0015c0028t0001 a0016c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0005t0001g0001 a0001c0005t0001g0002 a0001c0005t0001g0006 a0001c0013t0001g0002 a0001c0023t0001g0001 a0001c0027t0001g0001 a0002c0002t0001g0001 a0002c0003t0001g0001 a0002c0003t0001g0005 a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0017 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0004t0001g0003 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0006t0001g0001 a0002c0007t0001g0001 a0002c0009t0001g0003 a0002c0010t0001g0003 a0002c0011t0001g0001 a0002c0016t0001g0001 a0004c0012t0001g0002 a0005c0019t0001g0002 a0006c0020t0001g0001 a0007c0025t0001g0002 a0008c0024t0001g0002 a0009c0022t0001g0001 a0010c0026t0001g0002 a0011c0021t0001g0002 a0012c0018t0001g0008 a0013c0017t0001g0001 a0014c0015t0001g0003 a0015c0028t0001g0002 a0016c0014t0001g0002	428	432	0.9907	c.154 others(4): Show c.1544T>C	p.Val others(6): Show p.Val515Ala	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	5/5	1554/1809	1544/1683	515/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2251871	G G	A A	missense_variant missense_variant	MODERATE	HG02602.hp1 HG02602.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0001 a0007c0025t0001	a0007c0025t0001g0002 a0007c0025t0001g0002	1	432	0.0023	c.159 others(4): Show c.1597G>A	p.Gly others(6): Show p.Gly533Ser	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	5/5	1607/1809	1597/1683	533/560	chr19	TogoVar
AMIGO1_chr1_109499178_109514727	109508840	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03654.hp2 HG06807.hp1 HG03130.hp2 HG03654.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	3	400	0.0075	c.73G others(2): Show c.73G>A	p.Ala others(5): Show p.Ala25Thr	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding	2/2	468/5130	73/1482	25/493	chr1	TogoVar
AMIGO2_chr12_47071447_47084959	47077515	G G	C C	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0022 a0003c0007t0007g0022	1	480	0.0021	c.148 others(4): Show c.1488C>G	p.Ile others(6): Show p.Ile496Met	AMIGO2	ENSG00000139211.7	transcript	ENST00000550413.2	protein_coding	3/3	2156/3224	1488/1569	496/522	chr12	TogoVar
AMIGO2_chr12_47071447_47084959	47077523	C C	T T	missense_variant missense_variant	MODERATE	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0018 a0004c0010t0002g0018	1	480	0.0021	c.148 others(4): Show c.1480G>A	p.Glu others(6): Show p.Glu494Lys	AMIGO2	ENSG00000139211.7	transcript	ENST00000550413.2	protein_coding	3/3	2148/3224	1480/1569	494/522	chr12	TogoVar
AMIGO2_chr12_47071447_47084959	47077772	C C	G G	missense_variant missense_variant	MODERATE	HG02071.hp2 NA18972.hp1 NA18988.hp2 others(5): Show HG02071.hp2 NA18972.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA19003.hp1 NA19005.hp2 NA19012.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0007	8	480	0.0167	c.123 others(4): Show c.1231G>C	p.Val others(6): Show p.Val411Leu	AMIGO2	ENSG00000139211.7	transcript	ENST00000550413.2	protein_coding	3/3	1899/3224	1231/1569	411/522	chr12	TogoVar
AMIGO2_chr12_47071447_47084959	47077990	T T	C C	missense_variant missense_variant	MODERATE	HG03017.hp2 HG03017.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0020 a0005c0011t0002g0020	1	480	0.0021	c.101 others(4): Show c.1013A>G	p.Glu others(6): Show p.Glu338Gly	AMIGO2	ENSG00000139211.7	transcript	ENST00000550413.2	protein_coding	3/3	1681/3224	1013/1569	338/522	chr12	TogoVar
AMIGO2_chr12_47071447_47084959	47078995	A A	G G	missense_variant missense_variant	MODERATE	HG02132.hp2 HG02132.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0023 a0006c0006t0001g0023	1	480	0.0021	c.8T> others(1): Show c.8T>C	p.Leu others(4): Show p.Leu3Ser	AMIGO2	ENSG00000139211.7	transcript	ENST00000550413.2	protein_coding	3/3	676/3224	8/1569	3/522	chr12	TogoVar
AMIGO3_chr3_49711829_49724684	49718223	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0000 a0006c0010t0001g0000	1	334	0.0030	c.124 others(4): Show c.1243C>T	p.Arg others(6): Show p.Arg415Cys	AMIGO3	ENSG00000176020.9	transcript	ENST00000320431.8	protein_coding	1/1	1462/2856	1243/1515	415/504	chr3	TogoVar
AMIGO3_chr3_49711829_49724684	49718309	G G	T T	missense_variant missense_variant	MODERATE	NA18986.hp2 NA18986.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0000 a0005c0007t0001g0000	1	334	0.0030	c.115 others(4): Show c.1157C>A	p.Thr others(6): Show p.Thr386Asn	AMIGO3	ENSG00000176020.9	transcript	ENST00000320431.8	protein_coding	1/1	1376/2856	1157/1515	386/504	chr3	TogoVar
AMIGO3_chr3_49711829_49724684	49718388	G G	A A	missense_variant missense_variant	MODERATE	HG01993.hp1 HG01993.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0000 a0007c0011t0001g0000	1	334	0.0030	c.107 others(4): Show c.1078C>T	p.His others(6): Show p.His360Tyr	AMIGO3	ENSG00000176020.9	transcript	ENST00000320431.8	protein_coding	1/1	1297/2856	1078/1515	360/504	chr3	TogoVar
AMIGO3_chr3_49711829_49724684	49718696	G G	A A	missense_variant missense_variant	MODERATE	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0000 a0004c0013t0001g0000	1	334	0.0030	c.770 others(3): Show c.770C>T	p.Pro others(6): Show p.Pro257Leu	AMIGO3	ENSG00000176020.9	transcript	ENST00000320431.8	protein_coding	1/1	989/2856	770/1515	257/504	chr3	TogoVar
AMIGO3_chr3_49711829_49724684	49718727	G G	T T	missense_variant missense_variant	MODERATE	HG02027.hp1 HG02027.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0002 a0008c0006t0002	a0008c0006t0002g0000 a0008c0006t0002g0000	1	334	0.0030	c.739 others(3): Show c.739C>A	p.Arg others(6): Show p.Arg247Ser	AMIGO3	ENSG00000176020.9	transcript	ENST00000320431.8	protein_coding	1/1	958/2856	739/1515	247/504	chr3	TogoVar
AMIGO3_chr3_49711829_49724684	49718927	A A	G G	missense_variant missense_variant	MODERATE	HG02683.hp2 HG02683.hp2	a0009 a0009	a0009c0005 a0009c0005	a0009c0005t0002 a0009c0005t0002	a0009c0005t0002g0000 a0009c0005t0002g0000	1	334	0.0030	c.539 others(3): Show c.539T>C	p.Leu others(6): Show p.Leu180Pro	AMIGO3	ENSG00000176020.9	transcript	ENST00000320431.8	protein_coding	1/1	758/2856	539/1515	180/504	chr3	TogoVar
AMIGO3_chr3_49711829_49724684	49718987	C C	G G	missense_variant missense_variant	MODERATE	NA18951.hp2 NA18951.hp2	a0010 a0010	a0010c0004 a0010c0004	a0010c0004t0001 a0010c0004t0001	a0010c0004t0001g0000 a0010c0004t0001g0000	1	334	0.0030	c.479 others(3): Show c.479G>C	p.Ser others(6): Show p.Ser160Thr	AMIGO3	ENSG00000176020.9	transcript	ENST00000320431.8	protein_coding	1/1	698/2856	479/1515	160/504	chr3	TogoVar
AMIGO3_chr3_49711829_49724684	49719078	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp2 HG03098.hp1 HG03516.hp1 others(1): Show HG02559.hp2 HG03098.hp1 HG03516.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	4	334	0.0120	c.388 others(3): Show c.388G>A	p.Asp others(6): Show p.Asp130Asn	AMIGO3	ENSG00000176020.9	transcript	ENST00000320431.8	protein_coding	1/1	607/2856	388/1515	130/504	chr3	TogoVar
AMIGO3_chr3_49711829_49724684	49719122	T T	G G	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0000 a0003c0014t0001g0000	1	334	0.0030	c.344 others(3): Show c.344A>C	p.Asp others(6): Show p.Asp115Ala	AMIGO3	ENSG00000176020.9	transcript	ENST00000320431.8	protein_coding	1/1	563/2856	344/1515	115/504	chr3	TogoVar
AMMECR1L_chr2_127856630_127890956	127873991	C C	G G	missense_variant missense_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0113 a0002c0002t0002g0113	1	334	0.0030	c.244 others(3): Show c.244G>C	p.Ala others(5): Show p.Ala82Pro	AMMECR1L	ENSG00000144233.12	transcript	ENST00000272647.10	protein_coding	3/8	539/4692	244/933	82/310	chr2	TogoVar
AMMECR1L_chr2_127856630_127890956	127874197	T T	C C	missense_variant missense_variant	MODERATE	NA19057.hp1 NA19057.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0122 a0003c0003t0002g0122	1	334	0.0030	c.38A others(2): Show c.38A>G	p.Lys others(5): Show p.Lys13Arg	AMMECR1L	ENSG00000144233.12	transcript	ENST00000272647.10	protein_coding	3/8	333/4692	38/933	13/310	chr2	TogoVar
AMN1_chr12_31666142_31734021	31689042	C C	T T	missense_variant missense_variant	MODERATE	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0286 a0002c0003t0001g0286	1	432	0.0023	c.668 others(3): Show c.668G>A	p.Arg others(6): Show p.Arg223His	AMN1	ENSG00000151743.11	transcript	ENST00000281471.11	protein_coding	6/7	681/1952	668/777	223/258	chr12	TogoVar
AMN_chr14_102917663_102935842	102923797	G G	A A	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01099.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0004 a0006c0004t0004	a0006c0004t0004g0115 a0006c0004t0004g0115	1	452	0.0022	c.130 others(3): Show c.130G>A	p.Ala others(5): Show p.Ala44Thr	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	2/12	156/1550	130/1362	44/453	chr14	TogoVar
AMN_chr14_102917663_102935842	102928916	G G	T T	missense_variant missense_variant	MODERATE	NA18983.hp1 NA19064.hp1 NA18983.hp1 NA19064.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0027 a0003c0003t0001g0027	2	452	0.0044	c.454 others(3): Show c.454G>T	p.Val others(6): Show p.Val152Leu	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	5/12	480/1550	454/1362	152/453	chr14	TogoVar
AMN_chr14_102917663_102935842	102930267	T T	C C	missense_variant missense_variant	MODERATE	NA19083.hp2 NA19083.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0055 a0005c0006t0001g0055	1	452	0.0022	c.110 others(4): Show c.1109T>C	p.Leu others(6): Show p.Leu370Pro	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	10/12	1135/1550	1109/1362	370/453	chr14	TogoVar
AMN_chr14_102917663_102935842	102930610	C C	T T	missense_variant missense_variant	MODERATE	HG04199.hp1 HG04199.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0002 a0004c0007t0001g0002	1	452	0.0022	c.129 others(4): Show c.1292C>T	p.Ala others(6): Show p.Ala431Val	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding	12/12	1318/1550	1292/1362	431/453	chr14	TogoVar
AMOTL1_chr11_94763356_94881748	94799611	A A	G G	missense_variant missense_variant	MODERATE	HG02165.hp2 HG02165.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0001 a0004c0021t0001	a0004c0021t0001g0003 a0004c0021t0001g0003	1	246	0.0041	c.421 others(3): Show c.421A>G	p.Thr others(6): Show p.Thr141Ala	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	3/13	577/8980	421/2871	141/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94799864	G G	A A	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0015 a0005c0008t0015	a0005c0008t0015g0224 a0005c0008t0015g0224	1	246	0.0041	c.674 others(3): Show c.674G>A	p.Ser others(6): Show p.Ser225Asn	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	3/13	830/8980	674/2871	225/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94821531	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03225.hp1 HG03225.hp1	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0021 a0006c0017t0021	a0006c0017t0021g0113 a0006c0017t0021g0113	1	246	0.0041	c.112 others(4): Show c.1123C>T	p.Arg others(6): Show p.Arg375Cys	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	4/13	1279/8980	1123/2871	375/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94821561	A A	G G	missense_variant missense_variant	MODERATE	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.115 others(4): Show c.1153A>G	p.Met others(6): Show p.Met385Val	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	4/13	1309/8980	1153/2871	385/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94853966	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0003 a0011c0009t0003	a0011c0009t0003g0001 a0011c0009t0003g0001	1	246	0.0041	c.182 others(4): Show c.1828G>A	p.Glu others(6): Show p.Glu610Lys	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	8/13	1984/8980	1828/2871	610/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94859592	G G	A A	missense_variant missense_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0109 a0007c0011t0001g0109	1	246	0.0041	c.201 others(4): Show c.2012G>A	p.Arg others(6): Show p.Arg671Gln	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	9/13	2168/8980	2012/2871	671/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94866021	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0087 a0010c0012t0001g0087	1	246	0.0041	c.234 others(4): Show c.2341G>A	p.Gly others(6): Show p.Gly781Arg	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	11/13	2497/8980	2341/2871	781/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94869249	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00558.hp2 HG00741.hp2 others(13): Show HG00280.hp2 HG00558.hp2 HG00741.hp2 HG01175.hp2 HG01433.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02523.hp1 HG03239.hp1 NA18939.hp2 NA18952.hp1 NA18999.hp2 NA19084.hp2 NA19091.hp2 NA20752.hp1	a0002 a0010 a0002 a0010	a0002c0003 a0002c0019 a0010c0012 a0002c0003 a0002c0019 a0010c0012	a0002c0003t0001 a0002c0003t0004 a0002c0003t0049 others(2): Show a0002c0003t0001 a0002c0003t0004 a0002c0003t0049 a0002c0019t0004 a0010c0012t0001	a0002c0003t0001g0005 a0002c0003t0001g0008 a0002c0003t0001g0036 others(11): Show a0002c0003t0001g0005 a0002c0003t0001g0008 a0002c0003t0001g0036 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0083 a0002c0003t0001g0091 a0002c0003t0001g0134 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0004g0133 a0002c0003t0049g0048 a0002c0019t0004g0103 a0010c0012t0001g0087	16	246	0.0650	c.254 others(4): Show c.2540C>T	p.Pro others(6): Show p.Pro847Leu	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	12/13	2696/8980	2540/2871	847/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94869401	C C	T T	missense_variant missense_variant	MODERATE	HG01074.hp1 HG01074.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0010 a0009c0015t0010	a0009c0015t0010g0218 a0009c0015t0010g0218	1	246	0.0041	c.269 others(4): Show c.2692C>T	p.Arg others(6): Show p.Arg898Trp	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	12/13	2848/8980	2692/2871	898/956	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94869431	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03130.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0200 a0008c0014t0001g0200	1	246	0.0041	c.272 others(4): Show c.2722G>A	p.Val others(6): Show p.Val908Ile	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	12/13	2878/8980	2722/2871	908/956	chr11	TogoVar
AMOTL2_chr3_134350347_134379447	134358628	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(282): Show HG00099.hp1 HG00140.hp1 HG00140.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 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.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 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 others(10): Show a0001 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0004 a0001c0005 others(18): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0001c0016 a0001c0017 a0001c0019 a0001c0025 a0003c0003 a0003c0011 a0004c0006 a0006c0012 a0007c0010 a0008c0009 a0009c0013 a0010c0014 a0013c0018 a0014c0021 a0015c0022 a0016c0023 a0017c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0004t0001 a0001c0005t0004 a0001c0005t0008 a0001c0005t0009 a0001c0005t0011 a0001c0005t0023 a0001c0008t0006 a0001c0016t0001 a0001c0017t0007 a0001c0019t0006 a0001c0025t0001 a0003c0003t0001 a0003c0011t0001 a0004c0006t0001 a0006c0012t0001 a0006c0012t0002 a0007c0010t0002 a0007c0010t0004 a0008c0009t0002 a0008c0009t0031 a0009c0013t0005 a0010c0014t0005 a0013c0018t0001 a0014c0021t0004 a0015c0022t0037 a0016c0023t0012 a0017c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(142): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0005 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0171 a0001c0001t0004g0009 a0001c0001t0004g0015 a0001c0001t0004g0122 a0001c0001t0004g0125 a0001c0001t0005g0010 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0113 a0001c0001t0005g0133 a0001c0001t0005g0138 a0001c0001t0005g0139 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0007g0075 a0001c0001t0007g0095 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0007g0099 a0001c0001t0007g0100 a0001c0001t0007g0102 a0001c0001t0009g0123 a0001c0001t0009g0124 a0001c0001t0009g0127 a0001c0001t0010g0014 a0001c0001t0012g0168 a0001c0001t0012g0169 a0001c0001t0014g0029 a0001c0001t0017g0032 a0001c0001t0018g0047 a0001c0001t0020g0050 a0001c0001t0021g0051 a0001c0001t0022g0085 a0001c0001t0024g0086 a0001c0001t0025g0067 a0001c0001t0026g0079 a0001c0001t0028g0070 a0001c0001t0030g0120 a0001c0001t0032g0137 a0001c0001t0033g0107 a0001c0001t0034g0112 a0001c0004t0001g0006 a0001c0004t0001g0012 a0001c0004t0001g0018 a0001c0005t0004g0144 a0001c0005t0008g0008 a0001c0005t0008g0130 a0001c0005t0008g0131 a0001c0005t0009g0129 a0001c0005t0011g0126 a0001c0005t0011g0143 a0001c0005t0011g0145 a0001c0005t0023g0062 a0001c0008t0006g0039 a0001c0008t0006g0040 a0001c0008t0006g0147 a0001c0016t0001g0073 a0001c0017t0007g0077 a0001c0019t0006g0152 a0001c0025t0001g0057 a0003c0003t0001g0003 a0003c0003t0001g0017 a0003c0003t0001g0056 a0003c0011t0001g0065 a0003c0011t0001g0087 a0004c0006t0001g0007 a0004c0006t0001g0059 a0004c0006t0001g0064 a0006c0012t0001g0069 a0006c0012t0002g0167 a0007c0010t0002g0118 a0007c0010t0004g0119 a0008c0009t0002g0154 a0008c0009t0031g0153 a0009c0013t0005g0142 a0010c0014t0005g0140 a0013c0018t0001g0081 a0014c0021t0004g0128 a0015c0022t0037g0109 a0016c0023t0012g0170 a0017c0015t0001g0053	285	336	0.8482	c.219 others(4): Show c.2196G>C	p.Glu others(6): Show p.Glu732Asp	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	9/10	2363/4868	2196/2343	732/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134358647	T T	C C	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00597.hp2 HG00673.hp1 others(16): Show HG00423.hp2 HG00597.hp2 HG00673.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02523.hp2 NA18612.hp2 NA18962.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp1 NA19010.hp1 NA19060.hp1 NA19064.hp1 NA19086.hp1 NA19086.hp2	a0003 a0003	a0003c0003 a0003c0011 a0003c0003 a0003c0011	a0003c0003t0001 a0003c0011t0001 a0003c0003t0001 a0003c0011t0001	a0003c0003t0001g0003 a0003c0003t0001g0017 a0003c0003t0001g0056 others(2): Show a0003c0003t0001g0003 a0003c0003t0001g0017 a0003c0003t0001g0056 a0003c0011t0001g0065 a0003c0011t0001g0087	19	336	0.0566	c.217 others(4): Show c.2177A>G	p.Asp others(6): Show p.Asp726Gly	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	9/10	2344/4868	2177/2343	726/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134359295	G G	C C	missense_variant missense_variant	MODERATE	NA18522.hp1 NA18522.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0037 a0015c0022t0037	a0015c0022t0037g0109 a0015c0022t0037g0109	1	336	0.0030	c.209 others(4): Show c.2092C>G	p.Arg others(6): Show p.Arg698Gly	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	8/10	2259/4868	2092/2343	698/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134359442	G G	A A	missense_variant missense_variant	MODERATE	HG02148.hp2 HG02148.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0003 a0012c0020t0003	a0012c0020t0003g0158 a0012c0020t0003g0158	1	336	0.0030	c.194 others(4): Show c.1945C>T	p.Arg others(6): Show p.Arg649Cys	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	8/10	2112/4868	1945/2343	649/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134360186	A A	C C	missense_variant missense_variant	MODERATE	NA18951.hp2 NA18951.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0081 a0013c0018t0001g0081	1	336	0.0030	c.180 others(4): Show c.1803T>G	p.His others(6): Show p.His601Gln	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	7/10	1970/4868	1803/2343	601/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134360192	G G	C C	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0004 a0014c0021t0004	a0014c0021t0004g0128 a0014c0021t0004g0128	1	336	0.0030	c.179 others(4): Show c.1797C>G	p.Ile others(6): Show p.Ile599Met	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	7/10	1964/4868	1797/2343	599/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134360382	C C	A A	missense_variant missense_variant	MODERATE	NA18522.hp1 NA18522.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0037 a0015c0022t0037	a0015c0022t0037g0109 a0015c0022t0037g0109	1	336	0.0030	c.160 others(4): Show c.1607G>T	p.Gly others(6): Show p.Gly536Val	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	7/10	1774/4868	1607/2343	536/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134361528	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0012 a0016c0023t0012	a0016c0023t0012g0170 a0016c0023t0012g0170	1	336	0.0030	c.155 others(4): Show c.1559C>T	p.Ala others(6): Show p.Ala520Val	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	6/10	1726/4868	1559/2343	520/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134365853	C C	T T	missense_variant missense_variant	MODERATE	HG02027.hp1 NA18952.hp2 NA18971.hp2 others(7): Show HG02027.hp1 NA18952.hp2 NA18971.hp2 NA18972.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA19060.hp2 NA19081.hp1 NA19084.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0007 a0004c0006t0001g0059 a0004c0006t0001g0064 a0004c0006t0001g0007 a0004c0006t0001g0059 a0004c0006t0001g0064	10	336	0.0298	c.124 others(4): Show c.1243G>A	p.Gly others(6): Show p.Gly415Ser	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	5/10	1410/4868	1243/2343	415/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134365888	C C	T T	missense_variant missense_variant	MODERATE	HG02886.hp2 NA20129.hp1 HG02886.hp2 NA20129.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0004 a0007c0010t0002 a0007c0010t0004	a0007c0010t0002g0118 a0007c0010t0004g0119 a0007c0010t0002g0118 a0007c0010t0004g0119	2	336	0.0060	c.120 others(4): Show c.1208G>A	p.Arg others(6): Show p.Arg403His	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	5/10	1375/4868	1208/2343	403/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134367514	C C	G G	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01433.hp2 HG02071.hp1 others(8): Show HG01123.hp1 HG01433.hp2 HG02071.hp1 HG02132.hp2 NA18612.hp1 NA18939.hp2 NA18957.hp1 NA18973.hp2 NA18999.hp1 NA18999.hp2 NA19009.hp1	a0005 a0008 a0005 a0008	a0005c0007 a0008c0009 a0005c0007 a0008c0009	a0005c0007t0003 a0005c0007t0016 a0008c0009t0002 others(1): Show a0005c0007t0003 a0005c0007t0016 a0008c0009t0002 a0008c0009t0031	a0005c0007t0003g0011 a0005c0007t0003g0044 a0005c0007t0003g0164 others(3): Show a0005c0007t0003g0011 a0005c0007t0003g0044 a0005c0007t0003g0164 a0005c0007t0016g0041 a0008c0009t0002g0154 a0008c0009t0031g0153	11	336	0.0327	c.102 others(4): Show c.1024G>C	p.Ala others(6): Show p.Ala342Pro	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	3/10	1191/4868	1024/2343	342/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134367706	C C	G G	missense_variant missense_variant	MODERATE	NA18951.hp1 NA18951.hp1	a0017 a0017	a0017c0015 a0017c0015	a0017c0015t0001 a0017c0015t0001	a0017c0015t0001g0053 a0017c0015t0001g0053	1	336	0.0030	c.832 others(3): Show c.832G>C	p.Ala others(6): Show p.Ala278Pro	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	3/10	999/4868	832/2343	278/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134367753	T T	C C	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02976.hp1 NA19043.hp2 HG02559.hp2 HG02976.hp1 NA19043.hp2	a0006 a0011 a0006 a0011	a0006c0012 a0011c0024 a0006c0012 a0011c0024	a0006c0012t0001 a0006c0012t0002 a0011c0024t0013 a0006c0012t0001 a0006c0012t0002 a0011c0024t0013	a0006c0012t0001g0069 a0006c0012t0002g0167 a0011c0024t0013g0106 a0006c0012t0001g0069 a0006c0012t0002g0167 a0011c0024t0013g0106	3	336	0.0089	c.785 others(3): Show c.785A>G	p.Tyr others(6): Show p.Tyr262Cys	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	3/10	952/4868	785/2343	262/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134370868	C C	T T	missense_variant missense_variant	MODERATE	HG01934.hp1 HG01934.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0005 a0010c0014t0005	a0010c0014t0005g0140 a0010c0014t0005g0140	1	336	0.0030	c.566 others(3): Show c.566G>A	p.Arg others(6): Show p.Arg189His	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	2/10	733/4868	566/2343	189/780	chr3	TogoVar
AMOTL2_chr3_134350347_134379447	134371241	C C	T T	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0005 a0009c0013t0005	a0009c0013t0005g0142 a0009c0013t0005g0142	1	336	0.0030	c.193 others(3): Show c.193G>A	p.Val others(5): Show p.Val65Met	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	2/10	360/4868	193/2343	65/780	chr3	TogoVar
AMOT_chrX_112769877_112845831	112780906	T T	C C	missense_variant missense_variant	MODERATE	NA18956.hp1 NA18956.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0255 a0004c0009t0001g0255	1	270	0.0037	c.245 others(4): Show c.2453A>G	p.Lys others(6): Show p.Lys818Arg	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	12/14	3121/7613	2453/3255	818/1084	chrX	TogoVar

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