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
AAAS_chr12_53302460_53326610	53307573	A A	G G	synonymous_variant synonymous_variant	LOW	HG02486.hp1 HG02896.hp1 HG02897.hp1 others(2): Show HG02486.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0176 a0001c0005t0001g0177 a0001c0005t0001g0178 others(2): Show a0001c0005t0001g0176 a0001c0005t0001g0177 a0001c0005t0001g0178 a0001c0005t0001g0179 a0001c0005t0001g0180	5	330	0.0152	c.155 others(4): Show c.1557T>C	p.Thr others(6): Show p.Thr519Thr	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	16/16	1702/1815	1557/1641	519/546	chr12	TogoVar
AAAS_chr12_53302460_53326610	53307615	A A	G G	synonymous_variant synonymous_variant	LOW	HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG02723.hp1 HG02723.hp2 HG03209.hp2 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0002 a0002c0004t0001 a0002c0004t0002	a0002c0004t0001g0044 a0002c0004t0001g0156 a0002c0004t0002g0021 others(1): Show a0002c0004t0001g0044 a0002c0004t0001g0156 a0002c0004t0002g0021 a0002c0004t0002g0049	6	330	0.0182	c.151 others(4): Show c.1515T>C	p.Pro others(6): Show p.Pro505Pro	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	16/16	1660/1815	1515/1641	505/546	chr12	TogoVar
AAAS_chr12_53302460_53326610	53309198	G G	A A	synonymous_variant synonymous_variant	LOW	NA18953.hp2 NA19084.hp1 NA18953.hp2 NA19084.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0085 a0001c0008t0001g0144 a0001c0008t0001g0085 a0001c0008t0001g0144	2	330	0.0061	c.894 others(3): Show c.894C>T	p.Asp others(6): Show p.Asp298Asp	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	9/16	1039/1815	894/1641	298/546	chr12	TogoVar
AAAS_chr12_53302460_53326610	53309237	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 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 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 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 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.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 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.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 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0002c0004 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0010t0001 a0002c0004t0001 a0002c0004t0002 a0003c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(170): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0003g0048 a0001c0003t0001g0020 a0001c0003t0001g0045 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0164 a0001c0006t0001g0017 a0001c0006t0001g0075 a0001c0007t0001g0053 a0001c0007t0001g0054 a0001c0008t0001g0085 a0001c0008t0001g0144 a0001c0010t0001g0080 a0002c0004t0001g0044 a0002c0004t0001g0156 a0002c0004t0002g0021 a0002c0004t0002g0049 a0003c0009t0001g0188 a0003c0009t0001g0189	308	330	0.9333	c.855 others(3): Show c.855C>T	p.Phe others(6): Show p.Phe285Phe	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	9/16	1000/1815	855/1641	285/546	chr12	TogoVar
AAAS_chr12_53302460_53326610	53309249	G G	C C	synonymous_variant synonymous_variant	LOW	NA18945.hp1 NA18999.hp1 NA19002.hp1 others(1): Show NA18945.hp1 NA18999.hp1 NA19002.hp1 NA19068.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0017 a0001c0006t0001g0075 a0001c0006t0001g0017 a0001c0006t0001g0075	4	330	0.0121	c.843 others(3): Show c.843C>G	p.Pro others(6): Show p.Pro281Pro	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	9/16	988/1815	843/1641	281/546	chr12	TogoVar
AAAS_chr12_53302460_53326610	53314813	G G	C C	synonymous_variant synonymous_variant	LOW	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0080 a0001c0010t0001g0080	1	330	0.0030	c.483 others(3): Show c.483C>G	p.Pro others(6): Show p.Pro161Pro	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	6/16	628/1815	483/1641	161/546	chr12	TogoVar
AAAS_chr12_53302460_53326610	53315126	A A	G G	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG00639.hp1 HG00642.hp2 others(8): Show HG00323.hp2 HG00639.hp1 HG00642.hp2 HG01070.hp1 HG01099.hp2 HG01123.hp1 HG01361.hp2 HG01978.hp2 HG02615.hp1 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0045 a0001c0003t0001g0157 others(5): Show a0001c0003t0001g0020 a0001c0003t0001g0045 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0164	11	330	0.0333	c.414 others(3): Show c.414T>C	p.Asp others(6): Show p.Asp138Asp	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	5/16	559/1815	414/1641	138/546	chr12	TogoVar
AAAS_chr12_53302460_53326610	53320582	C C	T T	synonymous_variant synonymous_variant	LOW	HG02698.hp2 HG03942.hp2 HG02698.hp2 HG03942.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0053 a0001c0007t0001g0054 a0001c0007t0001g0053 a0001c0007t0001g0054	2	330	0.0061	c.234 others(3): Show c.234G>A	p.Lys others(5): Show p.Lys78Lys	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/16	379/1815	234/1641	78/546	chr12	TogoVar
AACS_chr12_125060435_125148316	125076572	C C	A A	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG01891.hp1 HG02109.hp2 others(7): Show HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0010 a0002c0011 a0002c0005 a0002c0010 a0002c0011	a0002c0005t0001 a0002c0010t0001 a0002c0011t0001 a0002c0005t0001 a0002c0010t0001 a0002c0011t0001	a0002c0005t0001g0015 a0002c0005t0001g0019 a0002c0005t0001g0020 others(7): Show a0002c0005t0001g0015 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0010t0001g0018 a0002c0011t0001g0014	10	364	0.0275	c.319 others(3): Show c.319C>A	p.Arg others(6): Show p.Arg107Arg	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/18	469/3256	319/2019	107/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125102732	G G	A A	synonymous_variant synonymous_variant	LOW	HG00544.hp2 HG00597.hp2 HG02015.hp2 others(17): Show HG00544.hp2 HG00597.hp2 HG02015.hp2 HG02040.hp2 HG02132.hp2 HG02165.hp1 HG02615.hp2 HG03139.hp2 NA18955.hp1 NA18966.hp1 NA18975.hp2 NA18977.hp2 NA18989.hp2 NA18992.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19055.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0008 a0001c0012 others(1): Show a0001c0004 a0001c0008 a0001c0012 a0002c0021	a0001c0004t0001 a0001c0004t0004 a0001c0008t0001 others(3): Show a0001c0004t0001 a0001c0004t0004 a0001c0008t0001 a0001c0008t0002 a0001c0012t0004 a0002c0021t0001	a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 others(17): Show a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0008t0001g0211 a0001c0008t0002g0238 a0001c0012t0004g0244 a0002c0021t0001g0026	20	364	0.0550	c.624 others(3): Show c.624G>A	p.Glu others(6): Show p.Glu208Glu	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	6/18	774/3256	624/2019	208/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125107181	C C	T T	synonymous_variant synonymous_variant	LOW	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0173 a0001c0020t0002g0173	1	364	0.0028	c.828 others(3): Show c.828C>T	p.Phe others(6): Show p.Phe276Phe	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/18	978/3256	828/2019	276/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125107238	C C	T T	synonymous_variant synonymous_variant	LOW	NA18954.hp2 NA18967.hp2 NA19004.hp1 others(1): Show NA18954.hp2 NA18967.hp2 NA19004.hp1 NA19012.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 others(1): Show a0002c0006t0001g0122 a0002c0006t0001g0123 a0002c0006t0001g0138 a0002c0006t0001g0149	4	364	0.0110	c.885 others(3): Show c.885C>T	p.Gly others(6): Show p.Gly295Gly	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/18	1035/3256	885/2019	295/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125125005	C C	T T	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0014 a0002c0011t0001g0014	1	364	0.0028	c.129 others(4): Show c.1290C>T	p.Ile others(6): Show p.Ile430Ile	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/18	1440/3256	1290/2019	430/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125128174	C C	T T	synonymous_variant synonymous_variant	LOW	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0204 a0001c0017t0002g0204	1	364	0.0028	c.132 others(4): Show c.1323C>T	p.Ile others(6): Show p.Ile441Ile	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/18	1473/3256	1323/2019	441/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125134046	C C	T T	synonymous_variant synonymous_variant	LOW	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0348 a0001c0009t0001g0349 a0001c0009t0001g0348 a0001c0009t0001g0349	2	364	0.0055	c.159 others(4): Show c.1593C>T	p.Thr others(6): Show p.Thr531Thr	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	15/18	1743/3256	1593/2019	531/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125134836	G G	A A	synonymous_variant synonymous_variant	LOW	HG02280.hp1 HG03471.hp1 HG06807.hp1 HG02280.hp1 HG03471.hp1 HG06807.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0027	3	364	0.0082	c.166 others(4): Show c.1662G>A	p.Ser others(6): Show p.Ser554Ser	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/18	1812/3256	1662/2019	554/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125136738	C C	T T	synonymous_variant synonymous_variant	LOW	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0244 a0001c0012t0004g0244	1	364	0.0028	c.175 others(4): Show c.1755C>T	p.Leu others(6): Show p.Leu585Leu	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/18	1905/3256	1755/2019	585/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125142139	C C	T T	synonymous_variant synonymous_variant	LOW	HG00544.hp2 HG00597.hp1 HG00597.hp2 others(40): Show HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02717.hp2 HG03139.hp2 HG03209.hp1 HG03927.hp2 HG04184.hp1 NA18942.hp2 NA18955.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19055.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0012 others(3): Show a0001c0003 a0001c0004 a0001c0012 a0002c0011 a0002c0021 a0002c0026	a0001c0003t0001 a0001c0003t0004 a0001c0003t0009 others(6): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0009 a0001c0004t0001 a0001c0004t0004 a0001c0012t0004 a0002c0011t0001 a0002c0021t0001 a0002c0026t0001	a0001c0003t0001g0053 a0001c0003t0001g0168 a0001c0003t0001g0210 others(40): Show a0001c0003t0001g0053 a0001c0003t0001g0168 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0256 a0001c0003t0001g0262 a0001c0003t0001g0338 a0001c0003t0001g0342 a0001c0003t0001g0353 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0004g0083 a0001c0003t0009g0189 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0004g0098 a0001c0004t0004g0167 a0001c0004t0004g0209 a0001c0004t0004g0237 a0001c0004t0004g0241 a0001c0004t0004g0242 a0001c0004t0004g0243 a0001c0004t0004g0245 a0001c0004t0004g0246 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0328 a0001c0004t0004g0341 a0001c0012t0004g0244 a0002c0011t0001g0014 a0002c0021t0001g0026 a0002c0026t0001g0145	43	364	0.1181	c.192 others(4): Show c.1929C>T	p.Ile others(6): Show p.Ile643Ile	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	18/18	2079/3256	1929/2019	643/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125142175	G G	A A	synonymous_variant synonymous_variant	LOW	HG01175.hp2 HG03139.hp1 HG03486.hp2 HG01175.hp2 HG03139.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0002c0010 a0002c0025 a0001c0015 a0002c0010 a0002c0025	a0001c0015t0001 a0002c0010t0001 a0002c0025t0001 a0001c0015t0001 a0002c0010t0001 a0002c0025t0001	a0001c0015t0001g0070 a0002c0010t0001g0018 a0002c0025t0001g0255 a0001c0015t0001g0070 a0002c0010t0001g0018 a0002c0025t0001g0255	3	364	0.0082	c.196 others(4): Show c.1965G>A	p.Ser others(6): Show p.Ser655Ser	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	18/18	2115/3256	1965/2019	655/672	chr12	TogoVar
AADACL2_chr3_151728927_151766339	151740843	T T	C C	synonymous_variant synonymous_variant	LOW	HG03704.hp2 HG03942.hp2 HG03704.hp2 HG03942.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0010 a0001c0005t0003g0010	2	428	0.0047	c.336 others(3): Show c.336T>C	p.Gly others(6): Show p.Gly112Gly	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	2/5	445/5060	336/1206	112/401	chr3	TogoVar
AADACL3_chr1_12711110_12733760	12716341	T T	A A	synonymous_variant synonymous_variant	LOW	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(173): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0002 a0001c0012 a0002c0003 others(19): Show a0001c0002 a0001c0012 a0002c0003 a0002c0004 a0002c0018 a0002c0019 a0002c0020 a0002c0021 a0002c0022 a0003c0009 a0004c0010 a0004c0024 a0005c0006 a0006c0008 a0007c0017 a0010c0030 a0011c0023 a0012c0029 a0013c0026 a0014c0025 a0015c0028 a0016c0027	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(43): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0026 a0001c0002t0037 a0001c0002t0040 a0001c0012t0008 a0001c0012t0024 a0002c0003t0003 a0002c0003t0005 a0002c0003t0039 a0002c0004t0002 a0002c0004t0023 a0002c0004t0026 a0002c0004t0041 a0002c0018t0003 a0002c0018t0047 a0002c0019t0017 a0002c0020t0002 a0002c0020t0042 a0002c0021t0024 a0002c0022t0002 a0003c0009t0003 a0003c0009t0005 a0003c0009t0007 a0004c0010t0012 a0004c0010t0025 a0004c0010t0046 a0004c0024t0019 a0005c0006t0006 a0005c0006t0017 a0005c0006t0034 a0005c0006t0035 a0005c0006t0038 a0005c0006t0045 a0006c0008t0008 a0007c0017t0016 a0007c0017t0036 a0007c0017t0049 a0010c0030t0012 a0011c0023t0043 a0012c0029t0044 a0013c0026t0012 a0014c0025t0048 a0015c0028t0002 a0016c0027t0002	a0001c0002t0001g0002 a0001c0002t0001g0082 a0001c0002t0002g0010 others(89): Show a0001c0002t0001g0002 a0001c0002t0001g0082 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0034 a0001c0002t0002g0037 a0001c0002t0002g0051 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0087 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0142 a0001c0002t0009g0017 a0001c0002t0009g0033 a0001c0002t0009g0064 a0001c0002t0009g0073 a0001c0002t0026g0010 a0001c0002t0037g0063 a0001c0002t0040g0021 a0001c0012t0008g0009 a0001c0012t0008g0032 a0001c0012t0008g0062 a0001c0012t0024g0141 a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0136 a0002c0003t0005g0005 a0002c0003t0005g0035 a0002c0003t0005g0071 a0002c0003t0005g0083 a0002c0003t0005g0085 a0002c0003t0005g0145 a0002c0003t0039g0005 a0002c0004t0002g0006 a0002c0004t0002g0011 a0002c0004t0002g0020 a0002c0004t0002g0030 a0002c0004t0002g0058 a0002c0004t0002g0072 a0002c0004t0002g0088 a0002c0004t0002g0090 a0002c0004t0002g0137 a0002c0004t0023g0006 a0002c0004t0026g0030 a0002c0004t0041g0011 a0002c0018t0003g0005 a0002c0018t0047g0086 a0002c0019t0017g0007 a0002c0020t0002g0020 a0002c0020t0042g0020 a0002c0021t0024g0084 a0002c0022t0002g0020 a0003c0009t0003g0031 a0003c0009t0005g0140 a0003c0009t0007g0003 a0003c0009t0007g0005 a0004c0010t0012g0013 a0004c0010t0025g0013 a0004c0010t0025g0056 a0004c0010t0046g0052 a0004c0024t0019g0081 a0005c0006t0006g0007 a0005c0006t0006g0055 a0005c0006t0017g0048 a0005c0006t0017g0074 a0005c0006t0034g0054 a0005c0006t0035g0079 a0005c0006t0038g0067 a0005c0006t0045g0049 a0006c0008t0008g0009 a0006c0008t0008g0036 a0007c0017t0016g0080 a0007c0017t0036g0078 a0007c0017t0049g0057 a0010c0030t0012g0013 a0011c0023t0043g0047 a0012c0029t0044g0012 a0013c0026t0012g0089 a0014c0025t0048g0050 a0015c0028t0002g0075 a0016c0027t0002g0143	176	432	0.4074	c.165 others(3): Show c.165T>A	p.Thr others(5): Show p.Thr55Thr	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	1/4	232/4055	165/1224	55/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12719558	C C	T T	synonymous_variant synonymous_variant	LOW	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(69): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG01069.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02109.hp1 HG02135.hp1 HG02155.hp2 HG02523.hp1 HG02602.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03130.hp2 HG03453.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18943.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19005.hp2 NA19006.hp2 NA19012.hp2 NA19056.hp1 NA19060.hp2 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19086.hp1	a0002 a0003 a0019 a0002 a0003 a0019	a0002c0003 a0002c0020 a0002c0022 others(3): Show a0002c0003 a0002c0020 a0002c0022 a0003c0005 a0003c0009 a0019c0036	a0002c0003t0003 a0002c0003t0005 a0002c0003t0039 others(10): Show a0002c0003t0003 a0002c0003t0005 a0002c0003t0039 a0002c0020t0002 a0002c0020t0042 a0002c0022t0002 a0003c0005t0004 a0003c0005t0007 a0003c0005t0027 a0003c0009t0003 a0003c0009t0005 a0003c0009t0007 a0019c0036t0007	a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0136 others(22): Show a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0136 a0002c0003t0005g0005 a0002c0003t0005g0035 a0002c0003t0005g0071 a0002c0003t0005g0083 a0002c0003t0005g0085 a0002c0003t0005g0145 a0002c0003t0039g0005 a0002c0020t0002g0020 a0002c0020t0042g0020 a0002c0022t0002g0020 a0003c0005t0004g0003 a0003c0005t0004g0040 a0003c0005t0004g0092 a0003c0005t0004g0112 a0003c0005t0007g0003 a0003c0005t0007g0109 a0003c0005t0027g0130 a0003c0009t0003g0031 a0003c0009t0005g0140 a0003c0009t0007g0003 a0003c0009t0007g0005 a0019c0036t0007g0040	72	432	0.1667	c.252 others(3): Show c.252C>T	p.Asp others(5): Show p.Asp84Asp	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	2/4	319/4055	252/1224	84/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12719561	C C	T T	synonymous_variant synonymous_variant	LOW	HG00597.hp2 HG01516.hp2 HG01517.hp2 others(13): Show HG00597.hp2 HG01516.hp2 HG01517.hp2 HG02451.hp1 HG02698.hp1 HG03927.hp2 NA18947.hp1 NA18955.hp1 NA18963.hp2 NA18981.hp2 NA18990.hp1 NA18990.hp2 NA19066.hp2 NA19084.hp2 NA19087.hp2 NA19089.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0012 a0002c0021 a0006c0008 others(1): Show a0001c0012 a0002c0021 a0006c0008 a0006c0035	a0001c0012t0008 a0001c0012t0024 a0002c0021t0024 others(2): Show a0001c0012t0008 a0001c0012t0024 a0002c0021t0024 a0006c0008t0008 a0006c0035t0011	a0001c0012t0008g0009 a0001c0012t0008g0032 a0001c0012t0008g0062 others(5): Show a0001c0012t0008g0009 a0001c0012t0008g0032 a0001c0012t0008g0062 a0001c0012t0024g0141 a0002c0021t0024g0084 a0006c0008t0008g0009 a0006c0008t0008g0036 a0006c0035t0011g0024	16	432	0.0370	c.255 others(3): Show c.255C>T	p.Pro others(5): Show p.Pro85Pro	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	2/4	322/4055	255/1224	85/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12719576	G G	A A	synonymous_variant synonymous_variant	LOW	NA20805.hp1 NA20805.hp1	a0005 a0005	a0005c0031 a0005c0031	a0005c0031t0006 a0005c0031t0006	a0005c0031t0006g0014 a0005c0031t0006g0014	1	432	0.0023	c.270 others(3): Show c.270G>A	p.Thr others(5): Show p.Thr90Thr	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	2/4	337/4055	270/1224	90/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12719675	C C	A A	synonymous_variant synonymous_variant	LOW	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0001 a0001c0033t0001g0001	1	432	0.0023	c.369 others(3): Show c.369C>A	p.Gly others(6): Show p.Gly123Gly	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	2/4	436/4055	369/1224	123/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12725231	G G	A A	synonymous_variant synonymous_variant	LOW	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0019 a0004c0024t0019	a0004c0024t0019g0081 a0004c0024t0019g0081	1	432	0.0023	c.459 others(3): Show c.459G>A	p.Lys others(6): Show p.Lys153Lys	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	4/4	526/4055	459/1224	153/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12651248	C C	T T	synonymous_variant synonymous_variant	LOW	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0049 a0001c0006t0004g0049	1	310	0.0032	c.294 others(3): Show c.294C>T	p.Pro others(5): Show p.Pro98Pro	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/4	756/2027	294/1224	98/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661804	C C	G G	synonymous_variant synonymous_variant	LOW	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0242 a0003c0004t0001g0242	1	310	0.0032	c.399 others(3): Show c.399C>G	p.Gly others(6): Show p.Gly133Gly	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	861/2027	399/1224	133/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661825	G G	T T	synonymous_variant synonymous_variant	LOW	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0242 a0003c0004t0001g0242	1	310	0.0032	c.420 others(3): Show c.420G>T	p.Arg others(6): Show p.Arg140Arg	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	882/2027	420/1224	140/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12666306	C C	T T	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG02630.hp2 HG02723.hp1 others(4): Show HG01109.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG02976.hp2 HG03098.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0003t0004 a0001c0003t0009 others(1): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0009 a0001c0006t0004	a0001c0003t0001g0057 a0001c0003t0001g0143 a0001c0003t0001g0176 others(4): Show a0001c0003t0001g0057 a0001c0003t0001g0143 a0001c0003t0001g0176 a0001c0003t0001g0201 a0001c0003t0004g0034 a0001c0003t0009g0046 a0001c0006t0004g0049	7	310	0.0226	c.795 others(3): Show c.795C>T	p.Asp others(6): Show p.Asp265Asp	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	4/4	1257/2027	795/1224	265/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12666405	C C	T T	synonymous_variant synonymous_variant	LOW	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0093 a0001c0005t0001g0093	1	310	0.0032	c.894 others(3): Show c.894C>T	p.Gly others(6): Show p.Gly298Gly	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	4/4	1356/2027	894/1224	298/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12666625	C C	T T	synonymous_variant synonymous_variant	LOW	HG02055.hp1 HG02109.hp1 HG02559.hp1 others(7): Show HG02055.hp1 HG02109.hp1 HG02559.hp1 HG02572.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG03041.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0012 a0001c0002t0001 a0001c0002t0004 a0001c0002t0012	a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 others(7): Show a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0012g0050	10	310	0.0323	c.111 others(4): Show c.1114C>T	p.Leu others(6): Show p.Leu372Leu	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	4/4	1576/2027	1114/1224	372/407	chr1	TogoVar
AADAC_chr3_151809116_151833488	151814201	C C	A A	synonymous_variant synonymous_variant	LOW	HG01433.hp2 HG01943.hp1 HG01943.hp2 others(2): Show HG01433.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02148.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0002 a0001c0004t0002g0010 a0001c0004t0002g0068 a0001c0004t0002g0002 a0001c0004t0002g0010 a0001c0004t0002g0068	5	440	0.0114	c.39C others(2): Show c.39C>A	p.Ile others(5): Show p.Ile13Ile	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding	1/5	86/1563	39/1200	13/399	chr3	TogoVar
AADAC_chr3_151809116_151833488	151814273	C C	T T	synonymous_variant synonymous_variant	LOW	HG02083.hp2 HG02083.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0042 a0003c0009t0001g0042	1	440	0.0023	c.111 others(3): Show c.111C>T	p.Asn others(5): Show p.Asn37Asn	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding	1/5	158/1563	111/1200	37/399	chr3	TogoVar
AADAC_chr3_151809116_151833488	151827836	T T	G G	synonymous_variant synonymous_variant	LOW	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0096 a0002c0007t0005g0096	1	440	0.0023	c.864 others(3): Show c.864T>G	p.Pro others(6): Show p.Pro288Pro	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding	5/5	911/1563	864/1200	288/399	chr3	TogoVar
AADAC_chr3_151809116_151833488	151828091	T T	C C	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02647.hp1 NA19043.hp1 HG02451.hp2 HG02647.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0018 a0001c0005t0001g0018	3	440	0.0068	c.111 others(4): Show c.1119T>C	p.His others(6): Show p.His373His	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding	5/5	1166/1563	1119/1200	373/399	chr3	TogoVar
AADAT_chr4_170055222_170094956	170073199	A A	G G	synonymous_variant synonymous_variant	LOW	HG00438.hp2 HG00609.hp1 NA18941.hp1 others(10): Show HG00438.hp2 HG00609.hp1 NA18941.hp1 NA18981.hp2 NA18985.hp2 NA18991.hp1 NA19009.hp2 NA19060.hp2 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19084.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0142 others(2): Show a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144	13	378	0.0344	c.591 others(3): Show c.591T>C	p.Val others(6): Show p.Val197Val	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding	5/13	857/2250	591/1278	197/425	chr4	TogoVar
AAGAB_chr15_67195667_67259661	67208608	C C	T T	synonymous_variant synonymous_variant	LOW	HG03834.hp2 NA18972.hp2 NA18977.hp1 others(1): Show HG03834.hp2 NA18972.hp2 NA18977.hp1 NA18988.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0266 a0001c0004t0001g0318 a0001c0004t0001g0331 others(1): Show a0001c0004t0001g0266 a0001c0004t0001g0318 a0001c0004t0001g0331 a0001c0004t0001g0332	4	380	0.0105	c.669 others(3): Show c.669G>A	p.Arg others(6): Show p.Arg223Arg	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	7/10	699/3132	669/948	223/315	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67236022	A A	G G	synonymous_variant synonymous_variant	LOW	HG03041.hp1 HG03453.hp1 HG03471.hp1 HG03041.hp1 HG03453.hp1 HG03471.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0356 a0003c0005t0004g0357 a0003c0005t0004g0358 a0003c0005t0004g0356 a0003c0005t0004g0357 a0003c0005t0004g0358	3	380	0.0079	c.408 others(3): Show c.408T>C	p.Phe others(6): Show p.Phe136Phe	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	4/10	438/3132	408/948	136/315	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67254623	A A	G G	synonymous_variant synonymous_variant	LOW	HG02015.hp1 HG02148.hp1 NA18946.hp2 others(3): Show HG02015.hp1 HG02148.hp1 NA18946.hp2 NA18960.hp1 NA18997.hp2 NA19057.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0019 a0001c0003t0001g0020 others(1): Show a0001c0003t0001g0002 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021	6	380	0.0158	c.9T> others(1): Show c.9T>C	p.Ala others(4): Show p.Ala3Ala	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/10	39/3132	9/948	3/315	chr15	TogoVar
AAK1_chr2_69452997_69648739	69482787	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(32): Show HG00099.hp2 HG00323.hp1 HG00558.hp1 HG00735.hp2 HG01074.hp2 HG01106.hp1 HG01175.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp2 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG02970.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 NA18950.hp2 NA19004.hp1 NA19030.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0004 a0001c0006 a0001c0008 others(5): Show a0001c0004 a0001c0006 a0001c0008 a0002c0016 a0002c0019 a0003c0014 a0005c0010 a0007c0017	a0001c0004t0002 a0001c0004t0010 a0001c0004t0014 others(22): Show a0001c0004t0002 a0001c0004t0010 a0001c0004t0014 a0001c0004t0017 a0001c0004t0067 a0001c0004t0068 a0001c0004t0070 a0001c0004t0071 a0001c0004t0072 a0001c0004t0146 a0001c0004t0153 a0001c0006t0016 a0001c0006t0028 a0001c0006t0041 a0001c0006t0042 a0001c0008t0069 a0001c0008t0097 a0001c0008t0098 a0001c0008t0135 a0002c0016t0103 a0002c0016t0134 a0002c0019t0065 a0003c0014t0025 a0005c0010t0010 a0007c0017t0066	a0001c0004t0002g0137 a0001c0004t0010g0127 a0001c0004t0010g0148 others(32): Show a0001c0004t0002g0137 a0001c0004t0010g0127 a0001c0004t0010g0148 a0001c0004t0010g0156 a0001c0004t0014g0063 a0001c0004t0017g0073 a0001c0004t0017g0075 a0001c0004t0017g0078 a0001c0004t0067g0077 a0001c0004t0068g0079 a0001c0004t0070g0071 a0001c0004t0071g0074 a0001c0004t0072g0093 a0001c0004t0146g0273 a0001c0004t0153g0296 a0001c0006t0016g0017 a0001c0006t0016g0061 a0001c0006t0016g0289 a0001c0006t0028g0126 a0001c0006t0028g0134 a0001c0006t0041g0008 a0001c0006t0042g0007 a0001c0008t0069g0102 a0001c0008t0097g0131 a0001c0008t0098g0140 a0001c0008t0135g0262 a0002c0016t0103g0106 a0002c0016t0134g0272 a0002c0019t0065g0062 a0003c0014t0025g0285 a0003c0014t0025g0286 a0005c0010t0010g0123 a0005c0010t0010g0142 a0005c0010t0010g0153 a0007c0017t0066g0076	35	298	0.1175	c.239 others(4): Show c.2391T>C	p.Ser others(6): Show p.Ser797Ser	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	18/22	2790/21157	2391/2886	797/961	chr2	TogoVar
AAK1_chr2_69452997_69648739	69496028	G G	A A	synonymous_variant synonymous_variant	LOW	HG02486.hp1 HG02559.hp1 HG02965.hp1 HG02486.hp1 HG02559.hp1 HG02965.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0029 a0001c0011t0079 a0001c0011t0029 a0001c0011t0079	a0001c0011t0029g0293 a0001c0011t0029g0294 a0001c0011t0079g0290 a0001c0011t0029g0293 a0001c0011t0029g0294 a0001c0011t0079g0290	3	298	0.0101	c.232 others(4): Show c.2322C>T	p.Ser others(6): Show p.Ser774Ser	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/22	2721/21157	2322/2886	774/961	chr2	TogoVar
AAK1_chr2_69452997_69648739	69507428	A A	C C	synonymous_variant synonymous_variant	LOW	HG02109.hp2 HG03471.hp2 HG02109.hp2 HG03471.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0036 a0004c0012t0061 a0004c0012t0036 a0004c0012t0061	a0004c0012t0036g0283 a0004c0012t0061g0067 a0004c0012t0036g0283 a0004c0012t0061g0067	2	298	0.0067	c.215 others(4): Show c.2157T>G	p.Leu others(6): Show p.Leu719Leu	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	15/22	2556/21157	2157/2886	719/961	chr2	TogoVar
AAK1_chr2_69452997_69648739	69514477	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02293.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG03139.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18983.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19084.hp2 NA19090.hp1	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0009	a0002c0002 a0002c0024 a0003c0020 others(2): Show a0002c0002 a0002c0024 a0003c0020 a0006c0015 a0009c0025	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 others(40): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0002c0002t0015 a0002c0002t0019 a0002c0002t0023 a0002c0002t0033 a0002c0002t0038 a0002c0002t0039 a0002c0002t0044 a0002c0002t0047 a0002c0002t0048 a0002c0002t0049 a0002c0002t0050 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0059 a0002c0002t0062 a0002c0002t0085 a0002c0002t0110 a0002c0002t0111 a0002c0002t0115 a0002c0002t0127 a0002c0002t0128 a0002c0002t0129 a0002c0002t0130 a0002c0002t0131 a0002c0002t0132 a0002c0002t0133 a0002c0002t0145 a0002c0002t0154 a0002c0002t0155 a0002c0024t0060 a0003c0020t0084 a0006c0015t0001 a0006c0015t0013 a0009c0025t0003	a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0028 others(85): Show a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0051 a0002c0002t0001g0057 a0002c0002t0003g0199 a0002c0002t0003g0203 a0002c0002t0003g0215 a0002c0002t0003g0227 a0002c0002t0003g0238 a0002c0002t0003g0242 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0250 a0002c0002t0003g0251 a0002c0002t0003g0263 a0002c0002t0005g0226 a0002c0002t0005g0228 a0002c0002t0005g0229 a0002c0002t0005g0230 a0002c0002t0005g0234 a0002c0002t0005g0235 a0002c0002t0005g0239 a0002c0002t0005g0240 a0002c0002t0005g0248 a0002c0002t0005g0252 a0002c0002t0005g0253 a0002c0002t0005g0256 a0002c0002t0007g0018 a0002c0002t0007g0068 a0002c0002t0008g0050 a0002c0002t0008g0070 a0002c0002t0013g0110 a0002c0002t0013g0112 a0002c0002t0013g0144 a0002c0002t0015g0002 a0002c0002t0015g0003 a0002c0002t0015g0005 a0002c0002t0019g0115 a0002c0002t0019g0143 a0002c0002t0019g0159 a0002c0002t0023g0026 a0002c0002t0023g0036 a0002c0002t0033g0200 a0002c0002t0033g0255 a0002c0002t0038g0001 a0002c0002t0039g0004 a0002c0002t0044g0041 a0002c0002t0047g0053 a0002c0002t0048g0039 a0002c0002t0049g0047 a0002c0002t0050g0035 a0002c0002t0051g0045 a0002c0002t0052g0023 a0002c0002t0053g0056 a0002c0002t0054g0030 a0002c0002t0055g0021 a0002c0002t0059g0032 a0002c0002t0062g0054 a0002c0002t0085g0109 a0002c0002t0110g0177 a0002c0002t0111g0173 a0002c0002t0115g0180 a0002c0002t0127g0249 a0002c0002t0128g0237 a0002c0002t0129g0241 a0002c0002t0130g0243 a0002c0002t0131g0211 a0002c0002t0132g0236 a0002c0002t0133g0210 a0002c0002t0145g0275 a0002c0002t0154g0297 a0002c0002t0155g0298 a0002c0024t0060g0031 a0003c0020t0084g0105 a0006c0015t0001g0024 a0006c0015t0013g0111 a0009c0025t0003g0260	88	298	0.2953	c.177 others(4): Show c.1770G>A	p.Glu others(6): Show p.Glu590Glu	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	13/22	2169/21157	1770/2886	590/961	chr2	TogoVar
AAK1_chr2_69452997_69648739	69514507	A A	G G	synonymous_variant synonymous_variant	LOW	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0060 a0002c0024t0060	a0002c0024t0060g0031 a0002c0024t0060g0031	1	298	0.0034	c.174 others(4): Show c.1740T>C	p.Ala others(6): Show p.Ala580Ala	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	13/22	2139/21157	1740/2886	580/961	chr2	TogoVar
AAK1_chr2_69452997_69648739	69514669	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(39): Show HG00099.hp2 HG00323.hp1 HG00558.hp1 HG01074.hp2 HG01106.hp1 HG01175.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp2 HG02074.hp2 HG02132.hp2 HG02145.hp2 HG02451.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03654.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18950.hp2 NA18961.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18980.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19030.hp1 NA19065.hp2 NA19240.hp1 NA20129.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0003 a0001c0004 a0001c0008 others(2): Show a0001c0003 a0001c0004 a0001c0008 a0005c0010 a0007c0017	a0001c0003t0012 a0001c0003t0022 a0001c0003t0026 others(27): Show a0001c0003t0012 a0001c0003t0022 a0001c0003t0026 a0001c0003t0030 a0001c0003t0046 a0001c0003t0064 a0001c0003t0080 a0001c0003t0081 a0001c0003t0082 a0001c0003t0106 a0001c0003t0108 a0001c0003t0109 a0001c0003t0142 a0001c0004t0002 a0001c0004t0010 a0001c0004t0014 a0001c0004t0017 a0001c0004t0067 a0001c0004t0068 a0001c0004t0070 a0001c0004t0071 a0001c0004t0072 a0001c0004t0146 a0001c0004t0153 a0001c0008t0069 a0001c0008t0097 a0001c0008t0098 a0001c0008t0135 a0005c0010t0010 a0007c0017t0066	a0001c0003t0012g0088 a0001c0003t0012g0091 a0001c0003t0012g0095 others(39): Show a0001c0003t0012g0088 a0001c0003t0012g0091 a0001c0003t0012g0095 a0001c0003t0012g0096 a0001c0003t0012g0097 a0001c0003t0022g0010 a0001c0003t0026g0014 a0001c0003t0026g0015 a0001c0003t0030g0168 a0001c0003t0030g0169 a0001c0003t0046g0100 a0001c0003t0064g0085 a0001c0003t0080g0094 a0001c0003t0081g0080 a0001c0003t0082g0098 a0001c0003t0106g0141 a0001c0003t0108g0138 a0001c0003t0109g0166 a0001c0003t0142g0214 a0001c0004t0002g0137 a0001c0004t0010g0127 a0001c0004t0010g0148 a0001c0004t0010g0156 a0001c0004t0014g0063 a0001c0004t0017g0073 a0001c0004t0017g0075 a0001c0004t0017g0078 a0001c0004t0067g0077 a0001c0004t0068g0079 a0001c0004t0070g0071 a0001c0004t0071g0074 a0001c0004t0072g0093 a0001c0004t0146g0273 a0001c0004t0153g0296 a0001c0008t0069g0102 a0001c0008t0097g0131 a0001c0008t0098g0140 a0001c0008t0135g0262 a0005c0010t0010g0123 a0005c0010t0010g0142 a0005c0010t0010g0153 a0007c0017t0066g0076	42	298	0.1409	c.157 others(4): Show c.1578G>A	p.Gln others(6): Show p.Gln526Gln	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	13/22	1977/21157	1578/2886	526/961	chr2	TogoVar
AAK1_chr2_69452997_69648739	69519164	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00323.hp1 HG01175.hp2 others(33): Show HG00099.hp2 HG00323.hp1 HG01175.hp2 HG02074.hp2 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03654.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18950.hp2 NA18961.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp2 NA18980.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19030.hp1 NA19065.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0003 a0001c0004 a0002c0019 others(1): Show a0001c0003 a0001c0004 a0002c0019 a0007c0017	a0001c0003t0012 a0001c0003t0022 a0001c0003t0026 others(23): Show a0001c0003t0012 a0001c0003t0022 a0001c0003t0026 a0001c0003t0030 a0001c0003t0046 a0001c0003t0064 a0001c0003t0080 a0001c0003t0081 a0001c0003t0082 a0001c0003t0106 a0001c0003t0108 a0001c0003t0109 a0001c0003t0142 a0001c0004t0002 a0001c0004t0010 a0001c0004t0014 a0001c0004t0017 a0001c0004t0067 a0001c0004t0068 a0001c0004t0070 a0001c0004t0071 a0001c0004t0072 a0001c0004t0146 a0001c0004t0153 a0002c0019t0065 a0007c0017t0066	a0001c0003t0012g0088 a0001c0003t0012g0091 a0001c0003t0012g0095 others(33): Show a0001c0003t0012g0088 a0001c0003t0012g0091 a0001c0003t0012g0095 a0001c0003t0012g0096 a0001c0003t0012g0097 a0001c0003t0022g0010 a0001c0003t0026g0014 a0001c0003t0026g0015 a0001c0003t0030g0168 a0001c0003t0030g0169 a0001c0003t0046g0100 a0001c0003t0064g0085 a0001c0003t0080g0094 a0001c0003t0081g0080 a0001c0003t0082g0098 a0001c0003t0106g0141 a0001c0003t0108g0138 a0001c0003t0109g0166 a0001c0003t0142g0214 a0001c0004t0002g0137 a0001c0004t0010g0127 a0001c0004t0010g0148 a0001c0004t0010g0156 a0001c0004t0014g0063 a0001c0004t0017g0073 a0001c0004t0017g0075 a0001c0004t0017g0078 a0001c0004t0067g0077 a0001c0004t0068g0079 a0001c0004t0070g0071 a0001c0004t0071g0074 a0001c0004t0072g0093 a0001c0004t0146g0273 a0001c0004t0153g0296 a0002c0019t0065g0062 a0007c0017t0066g0076	36	298	0.1208	c.128 others(4): Show c.1287G>A	p.Pro others(6): Show p.Pro429Pro	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	12/22	1686/21157	1287/2886	429/961	chr2	TogoVar
AAK1_chr2_69452997_69648739	69530024	G G	A A	synonymous_variant synonymous_variant	LOW	HG02809.hp2 HG02896.hp1 HG02976.hp2 others(2): Show HG02809.hp2 HG02896.hp1 HG02976.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0021 a0001c0007t0034 a0001c0007t0035 others(1): Show a0001c0007t0021 a0001c0007t0034 a0001c0007t0035 a0001c0007t0148	a0001c0007t0021g0276 a0001c0007t0021g0279 a0001c0007t0034g0270 others(2): Show a0001c0007t0021g0276 a0001c0007t0021g0279 a0001c0007t0034g0270 a0001c0007t0035g0271 a0001c0007t0148g0277	5	298	0.0168	c.855 others(3): Show c.855C>T	p.Asp others(6): Show p.Asp285Asp	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	8/22	1254/21157	855/2886	285/961	chr2	TogoVar
AAK1_chr2_69452997_69648739	69542649	G G	A A	synonymous_variant synonymous_variant	LOW	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0152 a0001c0026t0152	a0001c0026t0152g0295 a0001c0026t0152g0295	1	298	0.0034	c.408 others(3): Show c.408C>T	p.Asn others(6): Show p.Asn136Asn	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	5/22	807/21157	408/2886	136/961	chr2	TogoVar
AAK1_chr2_69452997_69648739	69642987	G G	T T	synonymous_variant synonymous_variant	LOW	HG02280.hp2 HG02922.hp1 NA19240.hp2 HG02280.hp2 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0035 a0001c0009t0125 a0001c0009t0141 a0001c0009t0035 a0001c0009t0125 a0001c0009t0141	a0001c0009t0035g0190 a0001c0009t0125g0179 a0001c0009t0141g0191 a0001c0009t0035g0190 a0001c0009t0125g0179 a0001c0009t0141g0191	3	298	0.0101	c.54C others(2): Show c.54C>A	p.Ser others(5): Show p.Ser18Ser	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/22	453/21157	54/2886	18/961	chr2	TogoVar

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