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
APIP_chr11_34877295_34921379	34888850	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(160): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp2 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0002c0006 a0004c0004 others(1): Show a0002c0002 a0002c0006 a0004c0004 a0006c0008	a0002c0002t0001 a0002c0006t0001 a0004c0004t0003 others(1): Show a0002c0002t0001 a0002c0006t0001 a0004c0004t0003 a0006c0008t0001	a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0009 others(105): Show a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0006t0001g0105 a0002c0006t0001g0114 a0004c0004t0003g0022 a0004c0004t0003g0023 a0004c0004t0003g0054 a0004c0004t0003g0055 a0004c0004t0003g0056 a0004c0004t0003g0057 a0006c0008t0001g0128	163	355	0.4592	c.227 others(3): Show c.227G>A	p.Cys others(5): Show p.Cys76Tyr	APIP	ENSG00000149089.13	transcript	ENST00000395787.4	protein_coding	4/7	322/1246	227/729	76/242	chr11	TogoVar
APIP_chr11_34877295_34921379	34895110	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp2 HG00733.hp2 HG01099.hp1 others(14): Show HG00280.hp2 HG00733.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01515.hp2 HG01943.hp1 HG02145.hp1 HG02300.hp1 HG02735.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03927.hp1 HG04228.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0007 a0003c0003t0003 a0003c0003t0007	a0003c0003t0003g0006 a0003c0003t0003g0024 a0003c0003t0003g0025 others(8): Show a0003c0003t0003g0006 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0058 a0003c0003t0003g0059 a0003c0003t0003g0060 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0064 a0003c0003t0003g0065 a0003c0003t0007g0061	17	355	0.0479	c.58G others(2): Show c.58G>A	p.Asp others(5): Show p.Asp20Asn	APIP	ENSG00000149089.13	transcript	ENST00000395787.4	protein_coding	2/7	153/1246	58/729	20/242	chr11	TogoVar
APIP_chr11_34877295_34921379	34916266	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(152): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp2 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0006 a0006c0008 a0002c0002 a0002c0006 a0006c0008	a0002c0002t0001 a0002c0006t0001 a0006c0008t0001 a0002c0002t0001 a0002c0006t0001 a0006c0008t0001	a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0009 others(99): Show a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0006t0001g0105 a0002c0006t0001g0114 a0006c0008t0001g0128	155	355	0.4366	c.19C others(2): Show c.19C>T	p.Arg others(4): Show p.Arg7Trp	APIP	ENSG00000149089.13	transcript	ENST00000395787.4	protein_coding	1/7	114/1246	19/729	7/242	chr11	TogoVar
APLF_chr2_68462585_68585162	68502860	A A	G G	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01167.hp1 HG01167.hp2 others(57): Show HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp2 NA18966.hp1 NA18978.hp1 NA19005.hp1 NA19043.hp1 NA19058.hp1 NA19079.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0002 a0004 a0006 others(3): Show a0002 a0004 a0006 a0010 a0011 a0012	a0002c0002 a0002c0011 a0004c0004 others(5): Show a0002c0002 a0002c0011 a0004c0004 a0006c0007 a0006c0013 a0010c0014 a0011c0015 a0012c0012	a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 others(12): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0012 a0002c0011t0002 a0004c0004t0003 a0006c0007t0006 a0006c0007t0017 a0006c0013t0016 a0010c0014t0009 a0011c0015t0013 a0012c0012t0007	a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 others(54): Show a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0006g0161 a0002c0002t0006g0162 a0002c0002t0006g0163 a0002c0002t0006g0164 a0002c0002t0007g0001 a0002c0002t0007g0029 a0002c0002t0007g0030 a0002c0002t0007g0031 a0002c0002t0008g0023 a0002c0002t0008g0024 a0002c0002t0008g0025 a0002c0002t0009g0003 a0002c0002t0010g0167 a0002c0002t0010g0168 a0002c0002t0010g0169 a0002c0002t0012g0021 a0002c0011t0002g0040 a0004c0004t0003g0008 a0004c0004t0003g0009 a0004c0004t0003g0010 a0004c0004t0003g0011 a0004c0004t0003g0012 a0004c0004t0003g0013 a0004c0004t0003g0014 a0004c0004t0003g0015 a0004c0004t0003g0016 a0004c0004t0003g0017 a0004c0004t0003g0018 a0004c0004t0003g0019 a0004c0004t0003g0020 a0006c0007t0006g0002 a0006c0007t0006g0032 a0006c0007t0017g0022 a0006c0013t0016g0166 a0010c0014t0009g0028 a0011c0015t0013g0165 a0012c0012t0007g0027	60	176	0.3409	c.298 others(3): Show c.298A>G	p.Ile others(6): Show p.Ile100Val	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	3/10	445/3823	298/1536	100/511	chr2	TogoVar
APLF_chr2_68462585_68585162	68513576	A A	G G	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0111 a0009c0010t0001g0111	1	176	0.0057	c.518 others(3): Show c.518A>G	p.Asn others(6): Show p.Asn173Ser	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/10	665/3823	518/1536	173/511	chr2	TogoVar
APLF_chr2_68462585_68585162	68526108	T T	A A	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00738.hp1 HG01109.hp1 others(78): Show HG00639.hp1 HG00738.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01261.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG02055.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03834.hp2 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18966.hp1 NA18978.hp1 NA19005.hp1 NA19043.hp1 NA19058.hp1 NA19079.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0006 a0008 a0011 a0012	a0002c0002 a0002c0011 a0003c0003 others(6): Show a0002c0002 a0002c0011 a0003c0003 a0004c0004 a0006c0007 a0006c0013 a0008c0008 a0011c0015 a0012c0012	a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 others(14): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0012 a0002c0011t0002 a0003c0003t0004 a0003c0003t0005 a0004c0004t0003 a0006c0007t0006 a0006c0007t0017 a0006c0013t0016 a0008c0008t0006 a0011c0015t0013 a0012c0012t0007	a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 others(75): Show a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0006g0161 a0002c0002t0006g0162 a0002c0002t0006g0163 a0002c0002t0006g0164 a0002c0002t0007g0001 a0002c0002t0007g0029 a0002c0002t0007g0030 a0002c0002t0007g0031 a0002c0002t0008g0023 a0002c0002t0008g0024 a0002c0002t0008g0025 a0002c0002t0009g0003 a0002c0002t0010g0167 a0002c0002t0010g0168 a0002c0002t0010g0169 a0002c0002t0012g0021 a0002c0011t0002g0040 a0003c0003t0004g0104 a0003c0003t0004g0114 a0003c0003t0004g0115 a0003c0003t0004g0119 a0003c0003t0004g0120 a0003c0003t0004g0121 a0003c0003t0004g0122 a0003c0003t0004g0123 a0003c0003t0004g0124 a0003c0003t0004g0125 a0003c0003t0004g0126 a0003c0003t0004g0151 a0003c0003t0005g0105 a0003c0003t0005g0127 a0003c0003t0005g0128 a0003c0003t0005g0129 a0003c0003t0005g0130 a0003c0003t0005g0131 a0003c0003t0005g0132 a0003c0003t0005g0133 a0003c0003t0005g0134 a0004c0004t0003g0008 a0004c0004t0003g0009 a0004c0004t0003g0010 a0004c0004t0003g0011 a0004c0004t0003g0012 a0004c0004t0003g0013 a0004c0004t0003g0014 a0004c0004t0003g0015 a0004c0004t0003g0016 a0004c0004t0003g0017 a0004c0004t0003g0018 a0004c0004t0003g0019 a0004c0004t0003g0020 a0006c0007t0006g0002 a0006c0007t0006g0032 a0006c0007t0017g0022 a0006c0013t0016g0166 a0008c0008t0006g0026 a0011c0015t0013g0165 a0012c0012t0007g0027	81	176	0.4602	c.670 others(3): Show c.670T>A	p.Ser others(6): Show p.Ser224Thr	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	6/10	817/3823	670/1536	224/511	chr2	TogoVar
APLF_chr2_68462585_68585162	68538073	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00738.hp1 HG01192.hp1 others(23): Show HG00639.hp1 HG00738.hp1 HG01192.hp1 HG01261.hp2 HG01943.hp1 HG02257.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03834.hp2 NA18906.hp1 NA19240.hp1 NA20805.hp1 NA21309.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0007 a0006c0013 a0003c0003 a0006c0007 a0006c0013	a0003c0003t0004 a0003c0003t0005 a0006c0007t0006 others(2): Show a0003c0003t0004 a0003c0003t0005 a0006c0007t0006 a0006c0007t0017 a0006c0013t0016	a0003c0003t0004g0104 a0003c0003t0004g0114 a0003c0003t0004g0115 others(22): Show a0003c0003t0004g0104 a0003c0003t0004g0114 a0003c0003t0004g0115 a0003c0003t0004g0119 a0003c0003t0004g0120 a0003c0003t0004g0121 a0003c0003t0004g0122 a0003c0003t0004g0123 a0003c0003t0004g0124 a0003c0003t0004g0125 a0003c0003t0004g0126 a0003c0003t0004g0151 a0003c0003t0005g0105 a0003c0003t0005g0127 a0003c0003t0005g0128 a0003c0003t0005g0129 a0003c0003t0005g0130 a0003c0003t0005g0131 a0003c0003t0005g0132 a0003c0003t0005g0133 a0003c0003t0005g0134 a0006c0007t0006g0002 a0006c0007t0006g0032 a0006c0007t0017g0022 a0006c0013t0016g0166	26	176	0.1477	c.100 others(4): Show c.1006C>T	p.Leu others(6): Show p.Leu336Phe	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	7/10	1153/3823	1006/1536	336/511	chr2	TogoVar
APLF_chr2_68462585_68585162	68545278	C C	T T	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0007 a0012c0012t0007	a0012c0012t0007g0027 a0012c0012t0007g0027	1	176	0.0057	c.125 others(4): Show c.1252C>T	p.Arg others(6): Show p.Arg418Trp	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	8/10	1399/3823	1252/1536	418/511	chr2	TogoVar
APLF_chr2_68462585_68585162	68545302	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02055.hp2 HG02615.hp1 others(1): Show HG01884.hp1 HG02055.hp2 HG02615.hp1 HG03579.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0136 a0007c0006t0001g0139 a0007c0006t0001g0140 others(1): Show a0007c0006t0001g0136 a0007c0006t0001g0139 a0007c0006t0001g0140 a0007c0006t0001g0141	4	176	0.0227	c.127 others(4): Show c.1276T>C	p.Ser others(6): Show p.Ser426Pro	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	8/10	1423/3823	1276/1536	426/511	chr2	TogoVar
APLF_chr2_68462585_68585162	68545305	T T	C C	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0013 a0011c0015t0013	a0011c0015t0013g0165 a0011c0015t0013g0165	1	176	0.0057	c.127 others(4): Show c.1279T>C	p.Cys others(6): Show p.Cys427Arg	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	8/10	1426/3823	1279/1536	427/511	chr2	TogoVar
APLF_chr2_68462585_68585162	68567351	C C	A A	missense_variant missense_variant	MODERATE	HG02129.hp1 HG02293.hp1 HG02300.hp2 others(10): Show HG02129.hp1 HG02293.hp1 HG02300.hp2 HG02738.hp1 HG03942.hp2 NA18943.hp2 NA18966.hp1 NA18978.hp1 NA19005.hp1 NA19058.hp1 NA19079.hp1 NA20752.hp1 NA20805.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0008 a0004c0004t0003g0009 a0004c0004t0003g0010 others(10): Show a0004c0004t0003g0008 a0004c0004t0003g0009 a0004c0004t0003g0010 a0004c0004t0003g0011 a0004c0004t0003g0012 a0004c0004t0003g0013 a0004c0004t0003g0014 a0004c0004t0003g0015 a0004c0004t0003g0016 a0004c0004t0003g0017 a0004c0004t0003g0018 a0004c0004t0003g0019 a0004c0004t0003g0020	13	176	0.0739	c.129 others(4): Show c.1297C>A	p.Gln others(6): Show p.Gln433Lys	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	9/10	1444/3823	1297/1536	433/511	chr2	TogoVar
APLNR_chr11_57228591_57242250	57236107	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02055.hp2 HG02559.hp2 others(3): Show HG01884.hp1 HG02055.hp2 HG02559.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0010 a0002c0004t0003 a0002c0003t0010 a0002c0004t0003	a0002c0003t0010g0000 a0002c0004t0003g0000 a0002c0003t0010g0000 a0002c0004t0003g0000	6	430	0.0140	c.898 others(3): Show c.898G>A	p.Val others(6): Show p.Val300Ile	APLNR	ENSG00000134817.12	transcript	ENST00000606794.2	protein_coding	1/1	1144/3660	898/1143	300/380	chr11	TogoVar
APLNR_chr11_57228591_57242250	57236394	G G	A A	missense_variant missense_variant	MODERATE	NA18972.hp1 NA18972.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0000 a0003c0005t0001g0000	1	430	0.0023	c.611 others(3): Show c.611C>T	p.Ser others(6): Show p.Ser204Leu	APLNR	ENSG00000134817.12	transcript	ENST00000606794.2	protein_coding	1/1	857/3660	611/1143	204/380	chr11	TogoVar
APLN_chrX_129640259_129659956	129648715	T T	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0025 a0002c0003t0025	a0002c0003t0025g0057 a0002c0003t0025g0057	1	317	0.0032	c.145 others(3): Show c.145A>T	p.Arg others(5): Show p.Arg49Trp	APLN	ENSG00000171388.12	transcript	ENST00000429967.3	protein_coding	2/3	471/3224	145/234	49/77	chrX	TogoVar
APLP1_chr19_35863574_35884792	35869737	G G	T T	missense_variant missense_variant	MODERATE	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0065 a0002c0014t0001g0065	1	256	0.0039	c.218 others(3): Show c.218G>T	p.Arg others(5): Show p.Arg73Leu	APLP1	ENSG00000105290.13	transcript	ENST00000221891.9	protein_coding	2/17	281/2370	218/1956	73/651	chr19	TogoVar
APLP1_chr19_35863574_35884792	35869772	C C	T T	missense_variant missense_variant	MODERATE	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0002 a0003c0013t0001g0002	1	256	0.0039	c.253 others(3): Show c.253C>T	p.Leu others(5): Show p.Leu85Phe	APLP1	ENSG00000105290.13	transcript	ENST00000221891.9	protein_coding	2/17	316/2370	253/1956	85/651	chr19	TogoVar
APLP1_chr19_35863574_35884792	35871646	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0005 a0004c0012t0002g0005	1	256	0.0039	c.572 others(3): Show c.572C>T	p.Ser others(6): Show p.Ser191Leu	APLP1	ENSG00000105290.13	transcript	ENST00000221891.9	protein_coding	5/17	635/2370	572/1956	191/651	chr19	TogoVar
APLP1_chr19_35863574_35884792	35871717	A A	T T	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01099.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0003 a0005c0011t0003	a0005c0011t0003g0007 a0005c0011t0003g0007	1	256	0.0039	c.643 others(3): Show c.643A>T	p.Thr others(6): Show p.Thr215Ser	APLP1	ENSG00000105290.13	transcript	ENST00000221891.9	protein_coding	5/17	706/2370	643/1956	215/651	chr19	TogoVar
APLP1_chr19_35863574_35884792	35874811	G G	A A	missense_variant missense_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0001 a0006c0007t0001g0001	1	256	0.0039	c.128 others(4): Show c.1286G>A	p.Arg others(6): Show p.Arg429His	APLP1	ENSG00000105290.13	transcript	ENST00000221891.9	protein_coding	10/17	1349/2370	1286/1956	429/651	chr19	TogoVar
APLP1_chr19_35863574_35884792	35874843	G G	A A	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0024 a0008c0008t0001g0024	1	256	0.0039	c.131 others(4): Show c.1318G>A	p.Glu others(6): Show p.Glu440Lys	APLP1	ENSG00000105290.13	transcript	ENST00000221891.9	protein_coding	10/17	1381/2370	1318/1956	440/651	chr19	TogoVar
APLP1_chr19_35863574_35884792	35876607	C C	G G	missense_variant missense_variant	MODERATE	HG00639.hp2 HG00639.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0021 a0007c0009t0001g0021	1	256	0.0039	c.143 others(4): Show c.1435C>G	p.Pro others(6): Show p.Pro479Ala	APLP1	ENSG00000105290.13	transcript	ENST00000221891.9	protein_coding	11/17	1498/2370	1435/1956	479/651	chr19	TogoVar
APLP2_chr11_130064894_130149805	130070012	C C	T T	missense_variant missense_variant	MODERATE	HG00423.hp2 NA18947.hp1 HG00423.hp2 NA18947.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0243 a0005c0008t0002g0244 a0005c0008t0002g0243 a0005c0008t0002g0244	2	274	0.0073	c.35C others(2): Show c.35C>T	p.Thr others(5): Show p.Thr12Met	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/17	119/3697	35/2256	12/751	chr11	TogoVar
APLP2_chr11_130064894_130149805	130109474	C C	G G	missense_variant missense_variant	MODERATE	NA19067.hp1 NA19067.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0175 a0008c0013t0001g0175	1	274	0.0037	c.151 others(3): Show c.151C>G	p.Gln others(5): Show p.Gln51Glu	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	2/17	235/3697	151/2256	51/751	chr11	TogoVar
APLP2_chr11_130064894_130149805	130121711	A A	G G	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02615.hp2 HG01884.hp1 HG02615.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0002 a0007c0007t0001 a0007c0007t0002	a0007c0007t0001g0021 a0007c0007t0002g0236 a0007c0007t0001g0021 a0007c0007t0002g0236	2	274	0.0073	c.614 others(3): Show c.614A>G	p.Gln others(6): Show p.Gln205Arg	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	5/17	698/3697	614/2256	205/751	chr11	TogoVar
APLP2_chr11_130064894_130149805	130123758	A A	G G	missense_variant missense_variant	MODERATE	HG02698.hp2 HG02698.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0017 a0012c0012t0001g0017	1	274	0.0037	c.106 others(4): Show c.1069A>G	p.Met others(6): Show p.Met357Val	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	7/17	1153/3697	1069/2256	357/751	chr11	TogoVar
APLP2_chr11_130064894_130149805	130127802	A A	G G	missense_variant missense_variant	MODERATE	NA19009.hp1 NA19009.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0247 a0009c0011t0002g0247	1	274	0.0037	c.125 others(4): Show c.1258A>G	p.Lys others(6): Show p.Lys420Glu	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	9/17	1342/3697	1258/2256	420/751	chr11	TogoVar
APLP2_chr11_130064894_130149805	130130057	C C	A A	missense_variant missense_variant	MODERATE	NA19088.hp1 NA19088.hp1	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0001 a0011c0009t0001	a0011c0009t0001g0172 a0011c0009t0001g0172	1	274	0.0037	c.147 others(4): Show c.1475C>A	p.Ala others(6): Show p.Ala492Asp	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	11/17	1559/3697	1475/2256	492/751	chr11	TogoVar
APLP2_chr11_130064894_130149805	130130075	G G	A A	missense_variant missense_variant	MODERATE	HG02922.hp1 HG03098.hp2 HG02922.hp1 HG03098.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0071 a0006c0006t0001g0074 a0006c0006t0001g0071 a0006c0006t0001g0074	2	274	0.0073	c.149 others(4): Show c.1493G>A	p.Arg others(6): Show p.Arg498His	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	11/17	1577/3697	1493/2256	498/751	chr11	TogoVar
APLP2_chr11_130064894_130149805	130140418	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG01261.hp2 HG01891.hp1 others(30): Show HG00408.hp1 HG01261.hp2 HG01891.hp1 HG02080.hp1 HG02109.hp1 HG02486.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp2 HG06807.hp1 NA18941.hp1 NA18943.hp1 NA18948.hp2 NA18962.hp1 NA18983.hp2 NA18994.hp2 NA19010.hp2 NA19084.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0012 a0004c0004t0002 a0004c0004t0003 a0004c0004t0014	a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0139 others(30): Show a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0227 a0002c0002t0003g0149 a0002c0002t0003g0150 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0008g0265 a0002c0002t0008g0266 a0002c0002t0008g0267 a0002c0002t0012g0268 a0004c0004t0002g0194 a0004c0004t0003g0006 a0004c0004t0003g0056 a0004c0004t0003g0094 a0004c0004t0003g0151 a0004c0004t0003g0154 a0004c0004t0003g0157 a0004c0004t0003g0164 a0004c0004t0003g0166 a0004c0004t0014g0229	33	274	0.1204	c.185 others(4): Show c.1858G>A	p.Asp others(6): Show p.Asp620Asn	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	14/17	1942/3697	1858/2256	620/751	chr11	TogoVar
APLP2_chr11_130064894_130149805	130140481	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02040.hp2 HG02040.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0210 a0010c0010t0002g0210	1	274	0.0037	c.192 others(4): Show c.1921A>T	p.Met others(6): Show p.Met641Leu	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	14/17	2005/3697	1921/2256	641/751	chr11	TogoVar
APMAP_chr20_24957925_24997751	24963847	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0098 a0012c0015t0001g0098	1	290	0.0035	c.121 others(4): Show c.1217C>T	p.Pro others(6): Show p.Pro406Leu	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	9/9	1280/2202	1217/1251	406/416	chr20	TogoVar
APMAP_chr20_24957925_24997751	24963887	C C	T T	missense_variant missense_variant	MODERATE	HG01975.hp1 HG01975.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0136 a0013c0014t0001g0136	1	290	0.0035	c.117 others(4): Show c.1177G>A	p.Glu others(6): Show p.Glu393Lys	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	9/9	1240/2202	1177/1251	393/416	chr20	TogoVar
APMAP_chr20_24957925_24997751	24963944	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02896.hp2 HG02897.hp2 others(3): Show HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0021 a0003c0005t0001g0046 a0003c0005t0001g0151 a0003c0005t0001g0021 a0003c0005t0001g0046 a0003c0005t0001g0151	6	290	0.0207	c.112 others(4): Show c.1120C>T	p.Arg others(6): Show p.Arg374Trp	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	9/9	1183/2202	1120/1251	374/416	chr20	TogoVar
APMAP_chr20_24957925_24997751	24963986	G G	A A	missense_variant missense_variant	MODERATE	HG03927.hp1 HG03927.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0108 a0014c0016t0001g0108	1	290	0.0035	c.107 others(4): Show c.1078C>T	p.Arg others(6): Show p.Arg360Trp	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	9/9	1141/2202	1078/1251	360/416	chr20	TogoVar
APMAP_chr20_24957925_24997751	24964006	G G	A A	missense_variant missense_variant	MODERATE	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0045 a0007c0010t0001g0045	2	290	0.0069	c.105 others(4): Show c.1058C>T	p.Thr others(6): Show p.Thr353Met	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	9/9	1121/2202	1058/1251	353/416	chr20	TogoVar
APMAP_chr20_24957925_24997751	24969545	T T	C C	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0121 a0011c0017t0001g0121	1	290	0.0035	c.829 others(3): Show c.829A>G	p.Thr others(6): Show p.Thr277Ala	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	7/9	892/2202	829/1251	277/416	chr20	TogoVar
APMAP_chr20_24957925_24997751	24971511	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp2 HG03942.hp1 NA18944.hp1 others(6): Show HG02109.hp2 HG03942.hp1 NA18944.hp1 NA18955.hp1 NA18957.hp2 NA18963.hp2 NA18998.hp1 NA19004.hp1 NA19080.hp1	a0002 a0006 a0002 a0006	a0002c0004 a0006c0011 a0002c0004 a0006c0011	a0002c0004t0001 a0006c0011t0001 a0002c0004t0001 a0006c0011t0001	a0002c0004t0001g0040 a0002c0004t0001g0128 a0002c0004t0001g0138 others(5): Show a0002c0004t0001g0040 a0002c0004t0001g0128 a0002c0004t0001g0138 a0002c0004t0001g0139 a0002c0004t0001g0140 a0002c0004t0001g0150 a0006c0011t0001g0144 a0006c0011t0001g0145	9	290	0.0310	c.487 others(3): Show c.487C>T	p.Leu others(6): Show p.Leu163Phe	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	5/9	550/2202	487/1251	163/416	chr20	TogoVar
APMAP_chr20_24957925_24997751	24973707	C C	A A	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0013 a0010c0013t0013	a0010c0013t0013g0100 a0010c0013t0013g0100	1	290	0.0035	c.359 others(3): Show c.359G>T	p.Arg others(6): Show p.Arg120Leu	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	4/9	422/2202	359/1251	120/416	chr20	TogoVar
APMAP_chr20_24957925_24997751	24978772	A A	G G	missense_variant missense_variant	MODERATE	HG02145.hp1 NA18522.hp1 NA19043.hp2 HG02145.hp1 NA18522.hp1 NA19043.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0037 a0004c0006t0001g0101 a0004c0006t0001g0037 a0004c0006t0001g0101	3	290	0.0103	c.323 others(3): Show c.323T>C	p.Ile others(6): Show p.Ile108Thr	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	3/9	386/2202	323/1251	108/416	chr20	TogoVar
APMAP_chr20_24957925_24997751	24978790	G G	A A	missense_variant missense_variant	MODERATE	NA18944.hp1 NA18963.hp2 NA18944.hp1 NA18963.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0144 a0006c0011t0001g0145 a0006c0011t0001g0144 a0006c0011t0001g0145	2	290	0.0069	c.305 others(3): Show c.305C>T	p.Pro others(6): Show p.Pro102Leu	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	3/9	368/2202	305/1251	102/416	chr20	TogoVar
APMAP_chr20_24957925_24997751	24978868	G G	A A	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0001 a0009c0019t0001	a0009c0019t0001g0116 a0009c0019t0001g0116	1	290	0.0035	c.227 others(3): Show c.227C>T	p.Pro others(5): Show p.Pro76Leu	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	3/9	290/2202	227/1251	76/416	chr20	TogoVar
APMAP_chr20_24957925_24997751	24983920	T T	C C	missense_variant missense_variant	MODERATE	NA18944.hp2 NA19002.hp2 NA18944.hp2 NA19002.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0032 a0008c0012t0001g0032	2	290	0.0069	c.195 others(3): Show c.195A>G	p.Ile others(5): Show p.Ile65Met	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	2/9	258/2202	195/1251	65/416	chr20	TogoVar
APMAP_chr20_24957925_24997751	24983922	T T	C C	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 NA20129.hp2 HG01069.hp1 HG01071.hp2 NA20129.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0033 a0005c0007t0001g0090 a0005c0007t0001g0033 a0005c0007t0001g0090	3	290	0.0103	c.193 others(3): Show c.193A>G	p.Ile others(5): Show p.Ile65Val	APMAP	ENSG00000101474.12	transcript	ENST00000217456.3	protein_coding	2/9	256/2202	193/1251	65/416	chr20	TogoVar
APOA1_chr11_116830751_116842622	116836158	C C	T T	missense_variant missense_variant	MODERATE	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0008	2	448	0.0045	c.454 others(3): Show c.454G>A	p.Glu others(6): Show p.Glu152Lys	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding	4/4	492/899	454/804	152/267	chr11	TogoVar
APOA1_chr11_116830751_116842622	116837020	C C	T T	missense_variant missense_variant	MODERATE	HG02027.hp1 HG02135.hp1 NA18945.hp2 others(10): Show HG02027.hp1 HG02135.hp1 NA18945.hp2 NA18949.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18974.hp1 NA19000.hp2 NA19012.hp2 NA19059.hp1 NA19062.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	13	448	0.0290	c.181 others(3): Show c.181G>A	p.Ala others(5): Show p.Ala61Thr	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding	3/4	219/899	181/804	61/267	chr11	TogoVar
APOA2_chr1_161217292_161228628	161222982	C C	A A	missense_variant missense_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0014 a0002c0003t0001g0014	1	430	0.0023	c.121 others(3): Show c.121G>T	p.Val others(5): Show p.Val41Leu	APOA2	ENSG00000158874.11	transcript	ENST00000367990.7	protein_coding	3/4	179/474	121/303	41/100	chr1	TogoVar
APOA4_chr11_116815700_116828304	116820918	C C	A A	missense_variant missense_variant	MODERATE	HG00738.hp2 HG00741.hp1 HG01123.hp1 others(3): Show HG00738.hp2 HG00741.hp1 HG01123.hp1 HG01168.hp2 HG01515.hp2 HG03688.hp1	a0004 a0008 a0004 a0008	a0004c0008 a0008c0014 a0004c0008 a0008c0014	a0004c0008t0002 a0008c0014t0002 a0004c0008t0002 a0008c0014t0002	a0004c0008t0002g0013 a0008c0014t0002g0026 a0004c0008t0002g0013 a0008c0014t0002g0026	6	462	0.0130	c.114 others(4): Show c.1140G>T	p.Gln others(6): Show p.Gln380His	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding	3/3	1253/1471	1140/1191	380/396	chr11	TogoVar
APOA4_chr11_116815700_116828304	116820959	T T	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00738.hp1 others(26): Show HG00140.hp1 HG00140.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02258.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02922.hp2 HG03195.hp1 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03831.hp1 HG03927.hp1 HG04228.hp1 NA20805.hp1 NA20905.hp1	a0003 a0003	a0003c0004 a0003c0007 a0003c0004 a0003c0007	a0003c0004t0001 a0003c0004t0003 a0003c0007t0001 a0003c0004t0001 a0003c0004t0003 a0003c0007t0001	a0003c0004t0001g0009 a0003c0004t0003g0011 a0003c0004t0003g0019 others(1): Show a0003c0004t0001g0009 a0003c0004t0003g0011 a0003c0004t0003g0019 a0003c0007t0001g0012	29	462	0.0628	c.109 others(4): Show c.1099A>T	p.Thr others(6): Show p.Thr367Ser	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding	3/3	1212/1471	1099/1191	367/396	chr11	TogoVar
APOA4_chr11_116815700_116828304	116821001	A A	C C	missense_variant missense_variant	MODERATE	HG01109.hp2 HG02717.hp1 NA20129.hp1 HG01109.hp2 HG02717.hp1 NA20129.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0018 a0005c0011t0001g0034 a0005c0011t0001g0018 a0005c0011t0001g0034	3	462	0.0065	c.105 others(4): Show c.1057T>G	p.Ser others(6): Show p.Ser353Ala	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding	3/3	1170/1471	1057/1191	353/396	chr11	TogoVar
APOA4_chr11_116815700_116828304	116821079	G G	T T	missense_variant missense_variant	MODERATE	NA19002.hp2 NA19002.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0002 a0011c0015t0002	a0011c0015t0002g0027 a0011c0015t0002g0027	1	462	0.0022	c.979 others(3): Show c.979C>A	p.Gln others(6): Show p.Gln327Lys	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding	3/3	1092/1471	979/1191	327/396	chr11	TogoVar

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