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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Select column to sort.

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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
AOC1_chr7_150847517_150866504	150857810	G G	T T	missense_variant missense_variant	MODERATE	NA19080.hp1 NA19080.hp1	a0021 a0021	a0021c0027 a0021c0027	a0021c0027t0001 a0021c0027t0001	a0021c0027t0001g0052 a0021c0027t0001g0052	1	420	0.0024	c.134 others(4): Show c.1340G>T	p.Gly others(6): Show p.Gly447Val	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	1398/2609	1340/2256	447/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150857846	A A	G G	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0011 a0011	a0011c0039 a0011c0039	a0011c0039t0005 a0011c0039t0005	a0011c0039t0005g0110 a0011c0039t0005g0110	1	420	0.0024	c.137 others(4): Show c.1376A>G	p.Tyr others(6): Show p.Tyr459Cys	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	1434/2609	1376/2256	459/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150857907	G G	A A	missense_variant missense_variant	MODERATE	NA18940.hp1 NA18972.hp2 NA19055.hp1 NA18940.hp1 NA18972.hp2 NA19055.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0001 a0006c0013t0001g0005 a0006c0013t0001g0001 a0006c0013t0001g0005	3	420	0.0071	c.143 others(4): Show c.1437G>A	p.Met others(6): Show p.Met479Ile	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	2/5	1495/2609	1437/2256	479/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150858879	C C	T T	missense_variant missense_variant	MODERATE	HG01257.hp2 HG01261.hp1 HG01257.hp2 HG01261.hp1	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0002 a0008c0018t0002	a0008c0018t0002g0002 a0008c0018t0002g0002	2	420	0.0048	c.168 others(4): Show c.1687C>T	p.Arg others(6): Show p.Arg563Cys	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	3/5	1745/2609	1687/2256	563/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150858967	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(416): 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 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.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 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.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 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 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 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.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 HG02809.hp1 HG02809.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 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 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 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.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.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 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.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 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.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 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022	a0001c0002 a0001c0003 a0001c0014 others(35): Show a0001c0002 a0001c0003 a0001c0014 a0001c0032 a0002c0001 a0002c0009 a0002c0010 a0002c0016 a0002c0017 a0002c0019 a0002c0026 a0003c0004 a0003c0005 a0003c0007 a0003c0015 a0003c0038 a0004c0008 a0004c0011 a0004c0012 a0004c0021 a0004c0035 a0005c0006 a0006c0013 a0007c0020 a0008c0018 a0009c0034 a0010c0033 a0011c0039 a0012c0036 a0013c0037 a0014c0022 a0015c0031 a0016c0023 a0017c0030 a0018c0029 a0019c0025 a0021c0027 a0022c0024	a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 others(42): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0003t0002 a0001c0003t0003 a0001c0014t0002 a0001c0032t0002 a0002c0001t0001 a0002c0001t0004 a0002c0009t0001 a0002c0009t0004 a0002c0010t0001 a0002c0016t0001 a0002c0017t0004 a0002c0019t0004 a0002c0026t0001 a0003c0004t0002 a0003c0005t0002 a0003c0007t0003 a0003c0015t0003 a0003c0015t0005 a0003c0038t0002 a0004c0008t0001 a0004c0011t0004 a0004c0012t0001 a0004c0012t0004 a0004c0021t0001 a0004c0035t0001 a0005c0006t0004 a0006c0013t0001 a0007c0020t0002 a0008c0018t0002 a0009c0034t0001 a0010c0033t0002 a0011c0039t0005 a0012c0036t0003 a0013c0037t0004 a0014c0022t0001 a0015c0031t0001 a0016c0023t0001 a0017c0030t0003 a0018c0029t0001 a0019c0025t0001 a0021c0027t0001 a0022c0024t0001	a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0009 others(176): Show a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0002g0095 a0001c0002t0002g0098 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0108 a0001c0002t0002g0115 a0001c0002t0002g0118 a0001c0002t0002g0123 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0143 a0001c0002t0002g0145 a0001c0002t0002g0155 a0001c0002t0006g0002 a0001c0002t0007g0007 a0001c0003t0002g0087 a0001c0003t0003g0004 a0001c0003t0003g0011 a0001c0003t0003g0018 a0001c0003t0003g0025 a0001c0003t0003g0033 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0075 a0001c0003t0003g0091 a0001c0003t0003g0096 a0001c0003t0003g0117 a0001c0003t0003g0125 a0001c0003t0003g0127 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0014t0002g0099 a0001c0014t0002g0104 a0001c0014t0002g0131 a0001c0032t0002g0041 a0002c0001t0001g0001 a0002c0001t0001g0005 a0002c0001t0001g0006 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0017 a0002c0001t0001g0028 a0002c0001t0001g0034 a0002c0001t0001g0045 a0002c0001t0001g0052 a0002c0001t0001g0053 a0002c0001t0001g0058 a0002c0001t0001g0074 a0002c0001t0001g0086 a0002c0001t0001g0090 a0002c0001t0001g0093 a0002c0001t0001g0094 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0109 a0002c0001t0001g0112 a0002c0001t0001g0113 a0002c0001t0001g0114 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0122 a0002c0001t0001g0126 a0002c0001t0001g0133 a0002c0001t0001g0134 a0002c0001t0001g0135 a0002c0001t0001g0142 a0002c0001t0001g0144 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0156 a0002c0001t0004g0132 a0002c0009t0001g0001 a0002c0009t0001g0079 a0002c0009t0001g0080 a0002c0009t0001g0081 a0002c0009t0001g0082 a0002c0009t0001g0146 a0002c0009t0004g0042 a0002c0010t0001g0035 a0002c0010t0001g0153 a0002c0010t0001g0154 a0002c0016t0001g0005 a0002c0016t0001g0130 a0002c0017t0004g0057 a0002c0019t0004g0097 a0002c0019t0004g0111 a0002c0026t0001g0006 a0003c0004t0002g0003 a0003c0004t0002g0014 a0003c0004t0002g0015 a0003c0004t0002g0016 a0003c0004t0002g0040 a0003c0004t0002g0061 a0003c0004t0002g0067 a0003c0004t0002g0070 a0003c0005t0002g0003 a0003c0005t0002g0020 a0003c0007t0003g0004 a0003c0007t0003g0036 a0003c0007t0003g0039 a0003c0007t0003g0059 a0003c0007t0003g0060 a0003c0007t0003g0068 a0003c0015t0003g0004 a0003c0015t0005g0054 a0003c0038t0002g0124 a0004c0008t0001g0021 a0004c0008t0001g0022 a0004c0008t0001g0030 a0004c0008t0001g0064 a0004c0008t0001g0073 a0004c0008t0001g0121 a0004c0011t0004g0037 a0004c0011t0004g0138 a0004c0011t0004g0139 a0004c0011t0004g0140 a0004c0012t0001g0001 a0004c0012t0001g0013 a0004c0012t0001g0072 a0004c0012t0004g0069 a0004c0021t0001g0065 a0004c0021t0001g0066 a0004c0035t0001g0030 a0005c0006t0004g0008 a0005c0006t0004g0019 a0005c0006t0004g0029 a0005c0006t0004g0038 a0005c0006t0004g0062 a0005c0006t0004g0063 a0006c0013t0001g0001 a0006c0013t0001g0005 a0007c0020t0002g0009 a0007c0020t0002g0026 a0008c0018t0002g0002 a0009c0034t0001g0141 a0010c0033t0002g0071 a0011c0039t0005g0110 a0012c0036t0003g0004 a0013c0037t0004g0137 a0014c0022t0001g0001 a0015c0031t0001g0107 a0016c0023t0001g0001 a0017c0030t0003g0047 a0018c0029t0001g0136 a0019c0025t0001g0116 a0021c0027t0001g0052 a0022c0024t0001g0001	419	420	0.9976	c.177 others(4): Show c.1775C>G	p.Thr others(6): Show p.Thr592Arg	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	3/5	1833/2609	1775/2256	592/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150859002	G G	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0019 a0019	a0019c0025 a0019c0025	a0019c0025t0001 a0019c0025t0001	a0019c0025t0001g0116 a0019c0025t0001g0116	1	420	0.0024	c.181 others(4): Show c.1810G>T	p.Val others(6): Show p.Val604Leu	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	3/5	1868/2609	1810/2256	604/751	chr7	TogoVar
AOC1_chr7_150847517_150866504	150860577	C C	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(196): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 others(10): Show a0002 a0004 a0005 a0006 a0009 a0013 a0014 a0015 a0016 a0018 a0019 a0021 a0022	a0002c0001 a0002c0009 a0002c0010 others(20): Show a0002c0001 a0002c0009 a0002c0010 a0002c0016 a0002c0017 a0002c0019 a0002c0026 a0004c0008 a0004c0011 a0004c0012 a0004c0021 a0004c0035 a0005c0006 a0006c0013 a0009c0034 a0013c0037 a0014c0022 a0015c0031 a0016c0023 a0018c0029 a0019c0025 a0021c0027 a0022c0024	a0002c0001t0001 a0002c0001t0004 a0002c0009t0001 others(23): Show a0002c0001t0001 a0002c0001t0004 a0002c0009t0001 a0002c0009t0004 a0002c0010t0001 a0002c0016t0001 a0002c0017t0004 a0002c0019t0004 a0002c0026t0001 a0004c0008t0001 a0004c0011t0004 a0004c0012t0001 a0004c0012t0004 a0004c0021t0001 a0004c0035t0001 a0005c0006t0004 a0006c0013t0001 a0009c0034t0001 a0013c0037t0004 a0014c0022t0001 a0015c0031t0001 a0016c0023t0001 a0018c0029t0001 a0019c0025t0001 a0021c0027t0001 a0022c0024t0001	a0002c0001t0001g0001 a0002c0001t0001g0005 a0002c0001t0001g0006 others(87): Show a0002c0001t0001g0001 a0002c0001t0001g0005 a0002c0001t0001g0006 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0017 a0002c0001t0001g0028 a0002c0001t0001g0034 a0002c0001t0001g0045 a0002c0001t0001g0052 a0002c0001t0001g0053 a0002c0001t0001g0058 a0002c0001t0001g0074 a0002c0001t0001g0086 a0002c0001t0001g0090 a0002c0001t0001g0093 a0002c0001t0001g0094 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0109 a0002c0001t0001g0112 a0002c0001t0001g0113 a0002c0001t0001g0114 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0122 a0002c0001t0001g0126 a0002c0001t0001g0133 a0002c0001t0001g0134 a0002c0001t0001g0135 a0002c0001t0001g0142 a0002c0001t0001g0144 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0156 a0002c0001t0004g0132 a0002c0009t0001g0001 a0002c0009t0001g0079 a0002c0009t0001g0080 a0002c0009t0001g0081 a0002c0009t0001g0082 a0002c0009t0001g0146 a0002c0009t0004g0042 a0002c0010t0001g0035 a0002c0010t0001g0153 a0002c0010t0001g0154 a0002c0016t0001g0005 a0002c0016t0001g0130 a0002c0017t0004g0057 a0002c0019t0004g0097 a0002c0019t0004g0111 a0002c0026t0001g0006 a0004c0008t0001g0021 a0004c0008t0001g0022 a0004c0008t0001g0030 a0004c0008t0001g0064 a0004c0008t0001g0073 a0004c0008t0001g0121 a0004c0011t0004g0037 a0004c0011t0004g0138 a0004c0011t0004g0139 a0004c0011t0004g0140 a0004c0012t0001g0001 a0004c0012t0001g0013 a0004c0012t0001g0072 a0004c0012t0004g0069 a0004c0021t0001g0065 a0004c0021t0001g0066 a0004c0035t0001g0030 a0005c0006t0004g0008 a0005c0006t0004g0019 a0005c0006t0004g0029 a0005c0006t0004g0038 a0005c0006t0004g0062 a0005c0006t0004g0063 a0006c0013t0001g0001 a0006c0013t0001g0005 a0009c0034t0001g0141 a0013c0037t0004g0137 a0014c0022t0001g0001 a0015c0031t0001g0107 a0016c0023t0001g0001 a0018c0029t0001g0136 a0019c0025t0001g0116 a0021c0027t0001g0052 a0022c0024t0001g0001	199	420	0.4738	c.193 others(4): Show c.1933C>G	p.His others(6): Show p.His645Asp	AOC1	ENSG00000002726.21	transcript	ENST00000360937.9	protein_coding	4/5	1991/2609	1933/2256	645/751	chr7	TogoVar
AOC2_chr17_42839580_42855707	42844711	G G	A A	missense_variant missense_variant	MODERATE	HG03654.hp2 HG03654.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0001 a0007c0006t0001g0001	1	290	0.0035	c.85G others(2): Show c.85G>A	p.Gly others(5): Show p.Gly29Ser	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/4	132/2677	85/2271	29/756	chr17	TogoVar
AOC2_chr17_42839580_42855707	42845048	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03139.hp2 HG03516.hp1 others(1): Show HG02630.hp2 HG03139.hp2 HG03516.hp1 NA18906.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0012 a0003c0005t0001g0051 a0003c0005t0001g0012 a0003c0005t0001g0051	4	290	0.0138	c.422 others(3): Show c.422C>T	p.Pro others(6): Show p.Pro141Leu	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/4	469/2677	422/2271	141/756	chr17	TogoVar
AOC2_chr17_42839580_42855707	42845907	G G	T T	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00673.hp2 HG02165.hp2 others(2): Show HG00609.hp2 HG00673.hp2 HG02165.hp2 NA19064.hp2 NA19085.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	5	290	0.0172	c.128 others(4): Show c.1281G>T	p.Glu others(6): Show p.Glu427Asp	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/4	1328/2677	1281/2271	427/756	chr17	TogoVar
AOC2_chr17_42839580_42855707	42849238	C C	T T	missense_variant missense_variant	MODERATE	HG02738.hp2 HG02738.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0059 a0004c0010t0001g0059	1	290	0.0035	c.174 others(4): Show c.1741C>T	p.Arg others(6): Show p.Arg581Cys	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	2/4	1788/2677	1741/2271	581/756	chr17	TogoVar
AOC2_chr17_42839580_42855707	42850223	C C	T T	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01070.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0008 a0006c0008t0001g0008	1	290	0.0035	c.214 others(4): Show c.2146C>T	p.Pro others(6): Show p.Pro716Ser	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	4/4	2193/2677	2146/2271	716/756	chr17	TogoVar
AOC2_chr17_42839580_42855707	42850322	C C	A A	missense_variant missense_variant	MODERATE	HG03688.hp2 HG03688.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0020 a0005c0007t0001g0020	1	290	0.0035	c.224 others(4): Show c.2245C>A	p.Pro others(6): Show p.Pro749Thr	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	4/4	2292/2677	2245/2271	749/756	chr17	TogoVar
AOC3_chr17_42846199_42863124	42851806	G G	A A	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02040.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0001 a0008c0012t0001g0001	1	284	0.0035	c.463 others(3): Show c.463G>A	p.Val others(6): Show p.Val155Met	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding	1/4	608/4011	463/2292	155/763	chr17	TogoVar
AOC3_chr17_42846199_42863124	42851842	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02145.hp1 HG02486.hp2 others(16): Show HG01891.hp1 HG02145.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02976.hp2 HG03195.hp1 HG03540.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp2 NA19240.hp2 NA21309.hp1	a0002 a0006 a0014 a0002 a0006 a0014	a0002c0004 a0002c0007 a0006c0008 others(1): Show a0002c0004 a0002c0007 a0006c0008 a0014c0018	a0002c0004t0002 a0002c0004t0007 a0002c0004t0017 others(3): Show a0002c0004t0002 a0002c0004t0007 a0002c0004t0017 a0002c0007t0002 a0006c0008t0002 a0014c0018t0018	a0002c0004t0002g0004 a0002c0004t0007g0004 a0002c0004t0017g0004 others(3): Show a0002c0004t0002g0004 a0002c0004t0007g0004 a0002c0004t0017g0004 a0002c0007t0002g0008 a0006c0008t0002g0011 a0014c0018t0018g0023	19	284	0.0669	c.499 others(3): Show c.499C>T	p.His others(6): Show p.His167Tyr	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding	1/4	644/4011	499/2292	167/763	chr17	TogoVar
AOC3_chr17_42846199_42863124	42851854	G G	C C	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03130.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0001 a0009c0013t0001g0001	1	284	0.0035	c.511 others(3): Show c.511G>C	p.Val others(6): Show p.Val171Leu	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding	1/4	656/4011	511/2292	171/763	chr17	TogoVar
AOC3_chr17_42846199_42863124	42851896	A A	G G	missense_variant missense_variant	MODERATE	NA18983.hp2 NA18983.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0001 a0010c0017t0001g0001	1	284	0.0035	c.553 others(3): Show c.553A>G	p.Asn others(6): Show p.Asn185Asp	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding	1/4	698/4011	553/2292	185/763	chr17	TogoVar
AOC3_chr17_42846199_42863124	42852329	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00642.hp1 HG01516.hp2 others(2): Show HG00099.hp2 HG00642.hp1 HG01516.hp2 HG01517.hp1 HG02257.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	5	284	0.0176	c.986 others(3): Show c.986G>A	p.Arg others(6): Show p.Arg329Gln	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding	1/4	1131/4011	986/2292	329/763	chr17	TogoVar
AOC3_chr17_42846199_42863124	42852455	T T	C C	missense_variant missense_variant	MODERATE	HG02809.hp2 HG06807.hp1 NA19240.hp2 HG02809.hp2 HG06807.hp1 NA19240.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0011 a0006c0008t0002g0011	3	284	0.0106	c.111 others(4): Show c.1112T>C	p.Ile others(6): Show p.Ile371Thr	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding	1/4	1257/4011	1112/2292	371/763	chr17	TogoVar
AOC3_chr17_42846199_42863124	42852559	T T	A A	missense_variant missense_variant	MODERATE	HG02970.hp1 NA20300.hp2 HG02970.hp1 NA20300.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0001 a0007c0009t0001g0001	2	284	0.0070	c.121 others(4): Show c.1216T>A	p.Tyr others(6): Show p.Tyr406Asn	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding	1/4	1361/4011	1216/2292	406/763	chr17	TogoVar
AOC3_chr17_42846199_42863124	42852620	G G	A A	missense_variant missense_variant	MODERATE	HG01074.hp1 HG01167.hp1 HG01256.hp2 others(8): Show HG01074.hp1 HG01167.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01943.hp2 HG01952.hp1 HG03017.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0003 a0003c0003t0001g0001 a0003c0003t0001g0003	11	284	0.0387	c.127 others(4): Show c.1277G>A	p.Arg others(6): Show p.Arg426His	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding	1/4	1422/4011	1277/2292	426/763	chr17	TogoVar
AOC3_chr17_42846199_42863124	42852664	C C	T T	missense_variant missense_variant	MODERATE	HG03471.hp1 HG03471.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0002 a0013c0016t0002	a0013c0016t0002g0024 a0013c0016t0002g0024	1	284	0.0035	c.132 others(4): Show c.1321C>T	p.Arg others(6): Show p.Arg441Trp	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding	1/4	1466/4011	1321/2292	441/763	chr17	TogoVar
AOC3_chr17_42846199_42863124	42854591	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03098.hp2 HG03139.hp1 others(2): Show HG02630.hp2 HG03098.hp2 HG03139.hp1 HG03516.hp2 NA18906.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0006 a0005c0006t0004g0010 a0005c0006t0004g0006 a0005c0006t0004g0010	5	284	0.0176	c.174 others(4): Show c.1744G>A	p.Ala others(6): Show p.Ala582Thr	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding	2/4	1889/4011	1744/2292	582/763	chr17	TogoVar
AOC3_chr17_42846199_42863124	42856356	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02055.hp2 HG02145.hp1 others(16): Show HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02976.hp2 HG03195.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp2 NA19240.hp2 NA21309.hp1	a0002 a0006 a0012 a0002 a0006 a0012	a0002c0004 a0002c0007 a0006c0008 others(1): Show a0002c0004 a0002c0007 a0006c0008 a0012c0019	a0002c0004t0002 a0002c0004t0007 a0002c0004t0017 others(3): Show a0002c0004t0002 a0002c0004t0007 a0002c0004t0017 a0002c0007t0002 a0006c0008t0002 a0012c0019t0004	a0002c0004t0002g0004 a0002c0004t0007g0004 a0002c0004t0017g0004 others(3): Show a0002c0004t0002g0004 a0002c0004t0007g0004 a0002c0004t0017g0004 a0002c0007t0002g0008 a0006c0008t0002g0011 a0012c0019t0004g0014	19	284	0.0669	c.209 others(4): Show c.2098G>A	p.Gly others(6): Show p.Gly700Ser	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding	4/4	2243/4011	2098/2292	700/763	chr17	TogoVar
AOPEP_chr9_94721699_95092159	94760091	G G	A A	missense_variant missense_variant	MODERATE	NA18994.hp1 NA18994.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0002 a0011c0012t0002	a0011c0012t0002g0059 a0011c0012t0002g0059	1	182	0.0055	c.308 others(3): Show c.308G>A	p.Ser others(6): Show p.Ser103Asn	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	2/17	496/3130	308/2460	103/819	chr9	TogoVar
AOPEP_chr9_94721699_95092159	94760318	G G	A A	missense_variant missense_variant	MODERATE	HG01255.hp1 HG02572.hp1 HG02572.hp2 others(11): Show HG01255.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0002 a0002c0002t0005 a0002c0008t0001 others(2): Show a0002c0002t0002 a0002c0002t0005 a0002c0008t0001 a0002c0008t0002 a0002c0008t0003	a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 others(11): Show a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0129 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0138 a0002c0002t0005g0130 a0002c0008t0001g0128 a0002c0008t0002g0135 a0002c0008t0003g0136	14	182	0.0769	c.535 others(3): Show c.535G>A	p.Val others(6): Show p.Val179Ile	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	2/17	723/3130	535/2460	179/819	chr9	TogoVar
AOPEP_chr9_94721699_95092159	94760547	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp1 HG01975.hp2 HG02165.hp1 others(2): Show HG00741.hp1 HG01975.hp2 HG02165.hp1 NA18956.hp2 NA18964.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0001 a0004c0004t0002	a0004c0004t0001g0153 a0004c0004t0001g0154 a0004c0004t0002g0155 others(2): Show a0004c0004t0001g0153 a0004c0004t0001g0154 a0004c0004t0002g0155 a0004c0004t0002g0158 a0004c0004t0002g0164	5	182	0.0275	c.764 others(3): Show c.764G>A	p.Arg others(6): Show p.Arg255Gln	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	2/17	952/3130	764/2460	255/819	chr9	TogoVar
AOPEP_chr9_94721699_95092159	94773114	T T	C C	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0002 a0012c0013t0002	a0012c0013t0002g0054 a0012c0013t0002g0054	1	182	0.0055	c.910 others(3): Show c.910T>C	p.Phe others(6): Show p.Phe304Leu	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	3/17	1098/3130	910/2460	304/819	chr9	TogoVar
AOPEP_chr9_94721699_95092159	94800794	C C	T T	missense_variant missense_variant	MODERATE	HG02818.hp2 HG02970.hp2 HG03041.hp2 others(1): Show HG02818.hp2 HG02970.hp2 HG03041.hp2 NA20129.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 others(1): Show a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102	4	182	0.0220	c.115 others(4): Show c.1156C>T	p.Arg others(6): Show p.Arg386Cys	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	5/17	1344/3130	1156/2460	386/819	chr9	TogoVar
AOPEP_chr9_94721699_95092159	94924048	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00621.hp2 HG02027.hp1 others(8): Show HG00408.hp1 HG00621.hp2 HG02027.hp1 HG02071.hp2 HG02080.hp1 HG02165.hp2 NA18956.hp1 NA18959.hp1 NA18973.hp1 NA18989.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 others(8): Show a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182	11	182	0.0604	c.142 others(4): Show c.1427G>A	p.Arg others(6): Show p.Arg476His	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	6/17	1615/3130	1427/2460	476/819	chr9	TogoVar
AOPEP_chr9_94721699_95092159	94955233	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02922.hp1 HG03516.hp2 others(1): Show HG02630.hp2 HG02922.hp1 HG03516.hp2 HG03579.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0003 a0007c0006t0003	a0007c0006t0003g0104 a0007c0006t0003g0106 a0007c0006t0003g0109 others(1): Show a0007c0006t0003g0104 a0007c0006t0003g0106 a0007c0006t0003g0109 a0007c0006t0003g0112	4	182	0.0220	c.171 others(4): Show c.1718A>G	p.His others(6): Show p.His573Arg	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	8/17	1906/3130	1718/2460	573/819	chr9	TogoVar
AOPEP_chr9_94721699_95092159	95005219	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18969.hp1 NA18971.hp2 NA18977.hp1 others(2): Show NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18991.hp1 NA19060.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0116 others(2): Show a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0119	5	182	0.0275	c.203 others(4): Show c.2039A>C	p.Glu others(6): Show p.Glu680Ala	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	12/17	2227/3130	2039/2460	680/819	chr9	TogoVar
AOPEP_chr9_94721699_95092159	95005588	G G	T T	missense_variant missense_variant	MODERATE	HG01081.hp1 HG02258.hp1 HG01081.hp1 HG02258.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0005 a0008c0011t0001g0006 a0008c0011t0001g0005 a0008c0011t0001g0006	2	182	0.0110	c.208 others(4): Show c.2087G>T	p.Arg others(6): Show p.Arg696Leu	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	13/17	2275/3130	2087/2460	696/819	chr9	TogoVar
AOPEP_chr9_94721699_95092159	95082662	A A	G G	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0144 a0009c0010t0001g0145 a0009c0010t0001g0144 a0009c0010t0001g0145	2	182	0.0110	c.240 others(4): Show c.2407A>G	p.Lys others(6): Show p.Lys803Glu	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	16/17	2595/3130	2407/2460	803/819	chr9	TogoVar
AOPEP_chr9_94721699_95092159	95082677	A A	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02257.hp1 HG02145.hp2 HG02257.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0170 a0010c0009t0001g0171 a0010c0009t0001g0170 a0010c0009t0001g0171	2	182	0.0110	c.242 others(4): Show c.2422A>G	p.Arg others(6): Show p.Arg808Gly	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	16/17	2610/3130	2422/2460	808/819	chr9	TogoVar
AOX1_chr2_200581014_200676495	200599627	T T	C C	missense_variant missense_variant	MODERATE	NA19074.hp2 NA19074.hp2	a0019 a0019	a0019c0011 a0019c0011	a0019c0011t0001 a0019c0011t0001	a0019c0011t0001g0202 a0019c0011t0001g0202	1	370	0.0027	c.317 others(3): Show c.317T>C	p.Ile others(6): Show p.Ile106Thr	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	5/35	412/4928	317/4017	106/1338	chr2	TogoVar
AOX1_chr2_200581014_200676495	200599743	G G	A A	missense_variant missense_variant	MODERATE	HG03927.hp1 HG03927.hp1	a0018 a0018	a0018c0012 a0018c0012	a0018c0012t0001 a0018c0012t0001	a0018c0012t0001g0198 a0018c0012t0001g0198	1	370	0.0027	c.433 others(3): Show c.433G>A	p.Gly others(6): Show p.Gly145Ser	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	5/35	528/4928	433/4017	145/1338	chr2	TogoVar
AOX1_chr2_200581014_200676495	200609017	A A	G G	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0017 a0017	a0017c0032 a0017c0032	a0017c0032t0001 a0017c0032t0001	a0017c0032t0001g0277 a0017c0032t0001g0277	1	370	0.0027	c.941 others(3): Show c.941A>G	p.Gln others(6): Show p.Gln314Arg	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	11/35	1036/4928	941/4017	314/1338	chr2	TogoVar
AOX1_chr2_200581014_200676495	200612631	G G	A A	missense_variant missense_variant	MODERATE	NA19070.hp1 NA19070.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0140 a0007c0013t0002g0140	1	370	0.0027	c.128 others(4): Show c.1286G>A	p.Arg others(6): Show p.Arg429Gln	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	14/35	1381/4928	1286/4017	429/1338	chr2	TogoVar
AOX1_chr2_200581014_200676495	200613946	T T	A A	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0002 a0016c0015t0002	a0016c0015t0002g0074 a0016c0015t0002g0074	1	370	0.0027	c.159 others(4): Show c.1591T>A	p.Ser others(6): Show p.Ser531Thr	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	15/35	1686/4928	1591/4017	531/1338	chr2	TogoVar
AOX1_chr2_200581014_200676495	200620738	T T	A A	missense_variant missense_variant	MODERATE	HG00642.hp1 HG01981.hp1 HG01993.hp2 others(5): Show HG00642.hp1 HG01981.hp1 HG01993.hp2 HG02273.hp1 NA18960.hp2 NA18977.hp2 NA19007.hp1 NA19062.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0001 a0004c0004t0002	a0004c0004t0001g0300 a0004c0004t0001g0301 a0004c0004t0001g0302 others(5): Show a0004c0004t0001g0300 a0004c0004t0001g0301 a0004c0004t0001g0302 a0004c0004t0001g0303 a0004c0004t0001g0304 a0004c0004t0001g0305 a0004c0004t0001g0327 a0004c0004t0002g0290	8	370	0.0216	c.179 others(4): Show c.1793T>A	p.Ile others(6): Show p.Ile598Asn	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	17/35	1888/4928	1793/4017	598/1338	chr2	TogoVar
AOX1_chr2_200581014_200676495	200620761	G G	A A	missense_variant missense_variant	MODERATE	NA18960.hp1 NA18960.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0107 a0008c0016t0002g0107	1	370	0.0027	c.181 others(4): Show c.1816G>A	p.Val others(6): Show p.Val606Met	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	17/35	1911/4928	1816/4017	606/1338	chr2	TogoVar
AOX1_chr2_200581014_200676495	200621220	G G	A A	missense_variant missense_variant	MODERATE	HG02976.hp1 HG02976.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0063 a0015c0017t0001g0063	1	370	0.0027	c.197 others(4): Show c.1975G>A	p.Ala others(6): Show p.Ala659Thr	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	18/35	2070/4928	1975/4017	659/1338	chr2	TogoVar
AOX1_chr2_200581014_200676495	200634833	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 NA18979.hp1 NA19056.hp1 others(1): Show HG00408.hp1 NA18979.hp1 NA19056.hp1 NA19082.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0210 a0005c0007t0002g0223 a0005c0007t0002g0240 others(1): Show a0005c0007t0002g0210 a0005c0007t0002g0223 a0005c0007t0002g0240 a0005c0007t0002g0242	4	370	0.0108	c.226 others(4): Show c.2264C>T	p.Thr others(6): Show p.Thr755Ile	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	21/35	2359/4928	2264/4017	755/1338	chr2	TogoVar
AOX1_chr2_200581014_200676495	200634886	G G	T T	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00408.hp2	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0001 a0009c0028t0001	a0009c0028t0001g0313 a0009c0028t0001g0313	1	370	0.0027	c.231 others(4): Show c.2317G>T	p.Val others(6): Show p.Val773Leu	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	21/35	2412/4928	2317/4017	773/1338	chr2	TogoVar
AOX1_chr2_200581014_200676495	200659241	C C	G G	missense_variant missense_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0001 a0014c0024t0001	a0014c0024t0001g0215 a0014c0024t0001g0215	1	370	0.0027	c.324 others(4): Show c.3248C>G	p.Ala others(7): Show p.Ala1083Gly	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	28/35	3343/4928	3248/4017	1083/1338	chr2	TogoVar
AOX1_chr2_200581014_200676495	200659279	G G	A A	missense_variant missense_variant	MODERATE	HG03041.hp2 HG03041.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0259 a0013c0021t0001g0259	1	370	0.0027	c.328 others(4): Show c.3286G>A	p.Gly others(7): Show p.Gly1096Ser	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	28/35	3381/4928	3286/4017	1096/1338	chr2	TogoVar
AOX1_chr2_200581014_200676495	200661607	A A	G G	missense_variant missense_variant	MODERATE	HG01515.hp1 HG01517.hp1 HG02055.hp2 others(26): Show HG01515.hp1 HG01517.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03704.hp2 HG03831.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0003 a0006 a0014 a0003 a0006 a0014	a0003c0003 a0003c0006 a0003c0009 others(5): Show a0003c0003 a0003c0006 a0003c0009 a0003c0018 a0003c0026 a0003c0030 a0006c0010 a0014c0024	a0003c0003t0001 a0003c0003t0004 a0003c0003t0006 others(8): Show a0003c0003t0001 a0003c0003t0004 a0003c0003t0006 a0003c0006t0001 a0003c0009t0001 a0003c0018t0001 a0003c0026t0001 a0003c0030t0002 a0006c0010t0007 a0006c0010t0009 a0014c0024t0001	a0003c0003t0001g0090 a0003c0003t0001g0094 a0003c0003t0001g0096 others(26): Show a0003c0003t0001g0090 a0003c0003t0001g0094 a0003c0003t0001g0096 a0003c0003t0001g0212 a0003c0003t0001g0226 a0003c0003t0001g0245 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0261 a0003c0003t0004g0073 a0003c0003t0004g0092 a0003c0003t0004g0209 a0003c0003t0004g0211 a0003c0003t0004g0214 a0003c0003t0004g0276 a0003c0003t0006g0329 a0003c0006t0001g0093 a0003c0006t0001g0095 a0003c0006t0001g0105 a0003c0006t0001g0122 a0003c0009t0001g0097 a0003c0009t0001g0361 a0003c0018t0001g0222 a0003c0026t0001g0213 a0003c0030t0002g0218 a0006c0010t0007g0280 a0006c0010t0009g0106 a0014c0024t0001g0215	29	370	0.0784	c.340 others(4): Show c.3404A>G	p.Asn others(7): Show p.Asn1135Ser	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	30/35	3499/4928	3404/4017	1135/1338	chr2	TogoVar
AOX1_chr2_200581014_200676495	200662889	G G	A A	missense_variant missense_variant	MODERATE	NA18747.hp2 NA18747.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0002 a0012c0022t0002	a0012c0022t0002g0108 a0012c0022t0002g0108	1	370	0.0027	c.346 others(4): Show c.3463G>A	p.Glu others(7): Show p.Glu1155Lys	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	31/35	3558/4928	3463/4017	1155/1338	chr2	TogoVar
AOX1_chr2_200581014_200676495	200668648	T T	C C	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02809.hp2	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0001 a0011c0023t0001	a0011c0023t0001g0251 a0011c0023t0001g0251	1	370	0.0027	c.364 others(4): Show c.3643T>C	p.Tyr others(7): Show p.Tyr1215His	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	33/35	3738/4928	3643/4017	1215/1338	chr2	TogoVar

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