Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
AGBL1_chr15_86074871_86921156	86142041	A A	C C	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0022 a0022	a0022c0049 a0022c0049	a0022c0049t0048 a0022c0049t0048	a0022c0049t0048g0013 a0022c0049t0048g0013	1	132	0.0076	c.89A others(2): Show c.89A>C	p.Lys others(5): Show p.Lys30Thr	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	2/23	191/12330	89/3366	30/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86143818	C C	T T	missense_variant missense_variant	MODERATE	NA18994.hp1 NA18994.hp1	a0021 a0021	a0021c0048 a0021c0048	a0021c0048t0002 a0021c0048t0002	a0021c0048t0002g0029 a0021c0048t0002g0029	1	132	0.0076	c.235 others(3): Show c.235C>T	p.Arg others(5): Show p.Arg79Trp	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	3/23	337/12330	235/3366	79/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86154444	C C	T T	missense_variant missense_variant	MODERATE	HG00735.hp2 HG00735.hp2	a0020 a0020	a0020c0061 a0020c0061	a0020c0061t0001 a0020c0061t0001	a0020c0061t0001g0066 a0020c0061t0001g0066	1	132	0.0076	c.277 others(3): Show c.277C>T	p.Arg others(5): Show p.Arg93Trp	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	4/23	379/12330	277/3366	93/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86159010	C C	T T	missense_variant missense_variant	MODERATE	HG02735.hp2 HG04204.hp1 HG02735.hp2 HG04204.hp1	a0011 a0012 a0011 a0012	a0011c0047 a0012c0046 a0011c0047 a0012c0046	a0011c0047t0004 a0012c0046t0046 a0011c0047t0004 a0012c0046t0046	a0011c0047t0004g0086 a0012c0046t0046g0032 a0011c0047t0004g0086 a0012c0046t0046g0032	2	132	0.0152	c.472 others(3): Show c.472C>T	p.Arg others(6): Show p.Arg158Cys	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	5/23	574/12330	472/3366	158/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86256853	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02735.hp2 HG02735.hp2	a0011 a0011	a0011c0047 a0011c0047	a0011c0047t0004 a0011c0047t0004	a0011c0047t0004g0086 a0011c0047t0004g0086	1	132	0.0076	c.736 others(3): Show c.736A>G	p.Asn others(6): Show p.Asn246Asp	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	8/23	838/12330	736/3366	246/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86256923	C C	T T	missense_variant missense_variant	MODERATE	HG01346.hp1 HG01346.hp1	a0013 a0013	a0013c0045 a0013c0045	a0013c0045t0001 a0013c0045t0001	a0013c0045t0001g0085 a0013c0045t0001g0085	1	132	0.0076	c.806 others(3): Show c.806C>T	p.Pro others(6): Show p.Pro269Leu	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	8/23	908/12330	806/3366	269/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86264523	C C	A A	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0032 a0019c0027t0032	a0019c0027t0032g0116 a0019c0027t0032g0116	1	132	0.0076	c.135 others(4): Show c.1352C>A	p.Ser others(6): Show p.Ser451Tyr	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	11/23	1454/12330	1352/3366	451/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86264559	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02280.hp2 HG02451.hp2 others(6): Show HG02055.hp2 HG02280.hp2 HG02451.hp2 HG02896.hp1 HG02922.hp1 HG03209.hp2 HG03486.hp1 NA20129.hp2 NA20300.hp2	a0004 a0005 a0004 a0005	a0004c0009 a0004c0020 a0004c0031 others(1): Show a0004c0009 a0004c0020 a0004c0031 a0005c0016	a0004c0009t0003 a0004c0009t0017 a0004c0009t0049 others(6): Show a0004c0009t0003 a0004c0009t0017 a0004c0009t0049 a0004c0009t0066 a0004c0020t0012 a0004c0020t0043 a0004c0031t0015 a0005c0016t0037 a0005c0016t0039	a0004c0009t0003g0095 a0004c0009t0017g0008 a0004c0009t0049g0071 others(6): Show a0004c0009t0003g0095 a0004c0009t0017g0008 a0004c0009t0049g0071 a0004c0009t0066g0019 a0004c0020t0012g0073 a0004c0020t0043g0068 a0004c0031t0015g0104 a0005c0016t0037g0049 a0005c0016t0039g0130	9	132	0.0682	c.138 others(4): Show c.1388C>T	p.Pro others(6): Show p.Pro463Leu	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	11/23	1490/12330	1388/3366	463/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86264612	T T	C C	missense_variant missense_variant	MODERATE	HG00735.hp2 HG00738.hp1 HG01074.hp2 others(14): Show HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01192.hp1 HG01978.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02895.hp2 HG03017.hp2 HG03471.hp1 HG03579.hp2 HG03710.hp2 HG04204.hp2 NA18522.hp2	a0002 a0014 a0015 others(3): Show a0002 a0014 a0015 a0016 a0020 a0022	a0002c0005 a0002c0018 a0002c0021 others(7): Show a0002c0005 a0002c0018 a0002c0021 a0002c0044 a0002c0060 a0014c0043 a0015c0028 a0016c0054 a0020c0061 a0022c0049	a0002c0005t0006 a0002c0005t0024 a0002c0005t0050 others(14): Show a0002c0005t0006 a0002c0005t0024 a0002c0005t0050 a0002c0005t0055 a0002c0005t0060 a0002c0005t0061 a0002c0018t0001 a0002c0018t0007 a0002c0021t0001 a0002c0021t0019 a0002c0044t0001 a0002c0060t0004 a0014c0043t0001 a0015c0028t0013 a0016c0054t0010 a0020c0061t0001 a0022c0049t0048	a0002c0005t0006g0103 a0002c0005t0024g0039 a0002c0005t0050g0036 others(14): Show a0002c0005t0006g0103 a0002c0005t0024g0039 a0002c0005t0050g0036 a0002c0005t0055g0033 a0002c0005t0060g0015 a0002c0005t0061g0028 a0002c0018t0001g0074 a0002c0018t0007g0037 a0002c0021t0001g0059 a0002c0021t0019g0065 a0002c0044t0001g0075 a0002c0060t0004g0072 a0014c0043t0001g0121 a0015c0028t0013g0131 a0016c0054t0010g0061 a0020c0061t0001g0066 a0022c0049t0048g0013	17	132	0.1288	c.144 others(4): Show c.1441T>C	p.Ser others(6): Show p.Ser481Pro	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	11/23	1543/12330	1441/3366	481/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86279673	G G	A A	missense_variant missense_variant	MODERATE	HG02615.hp2 HG02647.hp1 HG02615.hp2 HG02647.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0012 a0010c0017t0059 a0010c0017t0012 a0010c0017t0059	a0010c0017t0012g0090 a0010c0017t0059g0070 a0010c0017t0012g0090 a0010c0017t0059g0070	2	132	0.0152	c.211 others(4): Show c.2110G>A	p.Gly others(6): Show p.Gly704Arg	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/23	2212/12330	2110/3366	704/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86279695	A A	G G	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03540.hp2 HG06807.hp2 HG03098.hp1 HG03540.hp2 HG06807.hp2	a0006 a0017 a0006 a0017	a0006c0014 a0017c0025 a0006c0014 a0017c0025	a0006c0014t0054 a0006c0014t0064 a0017c0025t0065 a0006c0014t0054 a0006c0014t0064 a0017c0025t0065	a0006c0014t0054g0021 a0006c0014t0064g0040 a0017c0025t0065g0022 a0006c0014t0054g0021 a0006c0014t0064g0040 a0017c0025t0065g0022	3	132	0.0227	c.213 others(4): Show c.2132A>G	p.Tyr others(6): Show p.Tyr711Cys	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/23	2234/12330	2132/3366	711/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86397414	G G	C C	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0018 a0018	a0018c0038 a0018c0038	a0018c0038t0013 a0018c0038t0013	a0018c0038t0013g0091 a0018c0038t0013g0091	1	132	0.0076	c.242 others(4): Show c.2423G>C	p.Ser others(6): Show p.Ser808Thr	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	18/23	2525/12330	2423/3366	808/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86522937	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01192.hp1 HG02895.hp1 HG02976.hp1 HG01192.hp1 HG02895.hp1 HG02976.hp1	a0007 a0014 a0007 a0014	a0007c0033 a0007c0039 a0014c0043 a0007c0033 a0007c0039 a0014c0043	a0007c0033t0006 a0007c0039t0023 a0014c0043t0001 a0007c0033t0006 a0007c0039t0023 a0014c0043t0001	a0007c0033t0006g0112 a0007c0039t0023g0020 a0014c0043t0001g0121 a0007c0033t0006g0112 a0007c0039t0023g0020 a0014c0043t0001g0121	3	132	0.0227	c.268 others(4): Show c.2683G>A	p.Val others(6): Show p.Val895Met	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	19/23	2785/12330	2683/3366	895/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86674382	A A	G G	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(114): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18979.hp1 NA18979.hp2 NA18994.hp2 NA19002.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 others(14): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0018 a0019 a0022	a0001c0001 a0001c0002 a0001c0003 others(46): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0013 a0001c0015 a0001c0019 a0001c0023 a0001c0024 a0001c0032 a0001c0042 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0055 a0001c0056 a0001c0057 a0001c0059 a0002c0005 a0002c0018 a0002c0021 a0002c0044 a0002c0060 a0004c0009 a0004c0020 a0004c0031 a0006c0014 a0007c0033 a0007c0039 a0008c0030 a0008c0058 a0009c0035 a0009c0037 a0010c0017 a0011c0047 a0012c0046 a0013c0045 a0014c0043 a0016c0054 a0017c0025 a0018c0038 a0019c0027 a0022c0049	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(102): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0002t0016 a0001c0002t0018 a0001c0002t0022 a0001c0002t0027 a0001c0002t0062 a0001c0003t0002 a0001c0003t0008 a0001c0003t0024 a0001c0003t0025 a0001c0003t0051 a0001c0003t0056 a0001c0003t0057 a0001c0003t0063 a0001c0004t0001 a0001c0004t0019 a0001c0004t0020 a0001c0004t0034 a0001c0004t0040 a0001c0004t0052 a0001c0006t0002 a0001c0006t0007 a0001c0006t0025 a0001c0006t0036 a0001c0006t0045 a0001c0007t0021 a0001c0007t0029 a0001c0007t0030 a0001c0007t0038 a0001c0007t0044 a0001c0008t0001 a0001c0008t0002 a0001c0008t0053 a0001c0010t0001 a0001c0010t0015 a0001c0010t0067 a0001c0012t0014 a0001c0012t0041 a0001c0012t0042 a0001c0013t0005 a0001c0013t0014 a0001c0015t0003 a0001c0015t0058 a0001c0019t0001 a0001c0023t0020 a0001c0024t0007 a0001c0032t0009 a0001c0042t0005 a0001c0050t0028 a0001c0051t0033 a0001c0052t0026 a0001c0053t0008 a0001c0055t0009 a0001c0056t0031 a0001c0057t0001 a0001c0059t0001 a0002c0005t0006 a0002c0005t0024 a0002c0005t0050 a0002c0005t0055 a0002c0005t0060 a0002c0005t0061 a0002c0018t0001 a0002c0018t0007 a0002c0021t0001 a0002c0021t0019 a0002c0044t0001 a0002c0060t0004 a0004c0009t0003 a0004c0009t0017 a0004c0009t0049 a0004c0009t0066 a0004c0020t0012 a0004c0020t0043 a0004c0031t0015 a0006c0014t0054 a0006c0014t0064 a0007c0033t0006 a0007c0039t0023 a0008c0030t0010 a0008c0058t0010 a0009c0035t0007 a0009c0037t0004 a0010c0017t0012 a0010c0017t0059 a0011c0047t0004 a0012c0046t0046 a0013c0045t0001 a0014c0043t0001 a0016c0054t0010 a0017c0025t0065 a0018c0038t0013 a0019c0027t0032 a0022c0049t0048	a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0001g0109 others(114): Show a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0003g0097 a0001c0001t0003g0100 a0001c0001t0003g0113 a0001c0001t0005g0106 a0001c0001t0006g0093 a0001c0001t0008g0102 a0001c0001t0009g0099 a0001c0001t0011g0094 a0001c0001t0047g0014 a0001c0002t0001g0128 a0001c0002t0002g0010 a0001c0002t0002g0127 a0001c0002t0006g0003 a0001c0002t0011g0005 a0001c0002t0016g0001 a0001c0002t0016g0004 a0001c0002t0018g0101 a0001c0002t0022g0041 a0001c0002t0027g0082 a0001c0002t0062g0031 a0001c0003t0002g0017 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0008g0125 a0001c0003t0024g0048 a0001c0003t0025g0016 a0001c0003t0051g0024 a0001c0003t0056g0026 a0001c0003t0057g0038 a0001c0003t0063g0023 a0001c0004t0001g0120 a0001c0004t0019g0078 a0001c0004t0020g0080 a0001c0004t0034g0124 a0001c0004t0040g0084 a0001c0004t0052g0030 a0001c0006t0002g0051 a0001c0006t0007g0018 a0001c0006t0025g0035 a0001c0006t0036g0083 a0001c0006t0045g0044 a0001c0007t0021g0096 a0001c0007t0029g0115 a0001c0007t0030g0123 a0001c0007t0038g0129 a0001c0007t0044g0114 a0001c0008t0001g0006 a0001c0008t0001g0079 a0001c0008t0002g0034 a0001c0008t0053g0042 a0001c0010t0001g0119 a0001c0010t0015g0009 a0001c0010t0067g0069 a0001c0012t0014g0056 a0001c0012t0041g0062 a0001c0012t0042g0063 a0001c0013t0005g0118 a0001c0013t0014g0122 a0001c0015t0003g0098 a0001c0015t0058g0027 a0001c0019t0001g0057 a0001c0019t0001g0058 a0001c0023t0020g0088 a0001c0024t0007g0025 a0001c0032t0009g0108 a0001c0042t0005g0092 a0001c0050t0028g0054 a0001c0051t0033g0060 a0001c0052t0026g0126 a0001c0053t0008g0012 a0001c0055t0009g0064 a0001c0056t0031g0055 a0001c0057t0001g0067 a0001c0059t0001g0011 a0002c0005t0006g0103 a0002c0005t0024g0039 a0002c0005t0050g0036 a0002c0005t0055g0033 a0002c0005t0060g0015 a0002c0005t0061g0028 a0002c0018t0001g0074 a0002c0018t0007g0037 a0002c0021t0001g0059 a0002c0021t0019g0065 a0002c0044t0001g0075 a0002c0060t0004g0072 a0004c0009t0003g0095 a0004c0009t0017g0008 a0004c0009t0049g0071 a0004c0009t0066g0019 a0004c0020t0012g0073 a0004c0020t0043g0068 a0004c0031t0015g0104 a0006c0014t0054g0021 a0006c0014t0064g0040 a0007c0033t0006g0112 a0007c0039t0023g0020 a0008c0030t0010g0002 a0008c0058t0010g0053 a0009c0035t0007g0045 a0009c0037t0004g0043 a0010c0017t0012g0090 a0010c0017t0059g0070 a0011c0047t0004g0086 a0012c0046t0046g0032 a0013c0045t0001g0085 a0014c0043t0001g0121 a0016c0054t0010g0061 a0017c0025t0065g0022 a0018c0038t0013g0091 a0019c0027t0032g0116 a0022c0049t0048g0013	117	132	0.8864	c.310 others(4): Show c.3104A>G	p.Gln others(7): Show p.Gln1035Arg	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/23	3206/12330	3104/3366	1035/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86907094	A A	C C	missense_variant missense_variant	MODERATE	HG01346.hp2 HG02559.hp1 HG02976.hp2 others(1): Show HG01346.hp2 HG02559.hp1 HG02976.hp2 HG03540.hp2	a0008 a0016 a0017 a0008 a0016 a0017	a0008c0030 a0008c0058 a0016c0054 others(1): Show a0008c0030 a0008c0058 a0016c0054 a0017c0025	a0008c0030t0010 a0008c0058t0010 a0016c0054t0010 others(1): Show a0008c0030t0010 a0008c0058t0010 a0016c0054t0010 a0017c0025t0065	a0008c0030t0010g0002 a0008c0058t0010g0053 a0016c0054t0010g0061 others(1): Show a0008c0030t0010g0002 a0008c0058t0010g0053 a0016c0054t0010g0061 a0017c0025t0065g0022	4	132	0.0303	c.316 others(4): Show c.3166A>C	p.Ser others(7): Show p.Ser1056Arg	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	23/23	3268/12330	3166/3366	1056/1121	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86907152	T T	C C	missense_variant missense_variant	MODERATE	HG01258.hp2 HG03834.hp1 HG01258.hp2 HG03834.hp1	a0009 a0009	a0009c0035 a0009c0037 a0009c0035 a0009c0037	a0009c0035t0007 a0009c0037t0004 a0009c0035t0007 a0009c0037t0004	a0009c0035t0007g0045 a0009c0037t0004g0043 a0009c0035t0007g0045 a0009c0037t0004g0043	2	132	0.0152	c.322 others(4): Show c.3224T>C	p.Ile others(7): Show p.Ile1075Thr	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	23/23	3326/12330	3224/3366	1075/1121	chr15	TogoVar
AGBL2_chr11_47654591_47720369	47660227	T T	A A	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0324 a0011c0012t0001g0324	1	356	0.0028	c.265 others(4): Show c.2655A>T	p.Arg others(6): Show p.Arg885Ser	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	19/19	2950/3586	2655/2709	885/902	chr11	TogoVar
AGBL2_chr11_47654591_47720369	47679976	C C	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(219): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01943.hp2 HG01978.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0013	a0001c0001 a0004c0005 a0005c0006 others(6): Show a0001c0001 a0004c0005 a0005c0006 a0006c0004 a0007c0007 a0009c0016 a0010c0014 a0011c0012 a0013c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0004c0005t0001 a0005c0006t0001 a0006c0004t0002 a0007c0007t0001 a0009c0016t0001 a0010c0014t0001 a0011c0012t0001 a0013c0011t0001	a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0122 others(219): Show a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0002g0240 a0001c0001t0003g0264 a0001c0001t0003g0280 a0001c0001t0003g0307 a0001c0001t0005g0328 a0001c0001t0005g0329 a0001c0001t0006g0323 a0004c0005t0001g0273 a0004c0005t0001g0302 a0004c0005t0001g0305 a0005c0006t0001g0292 a0005c0006t0001g0303 a0005c0006t0001g0304 a0006c0004t0002g0344 a0006c0004t0002g0345 a0006c0004t0002g0346 a0007c0007t0001g0124 a0007c0007t0001g0125 a0009c0016t0001g0168 a0010c0014t0001g0222 a0011c0012t0001g0324 a0013c0011t0001g0210	222	356	0.6236	c.201 others(4): Show c.2013G>T	p.Met others(6): Show p.Met671Ile	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	13/19	2308/3586	2013/2709	671/902	chr11	TogoVar
AGBL2_chr11_47654591_47720369	47690172	C C	A A	missense_variant missense_variant	MODERATE	HG02148.hp2 HG02148.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0222 a0010c0014t0001g0222	1	356	0.0028	c.153 others(4): Show c.1535G>T	p.Arg others(6): Show p.Arg512Leu	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	10/19	1830/3586	1535/2709	512/902	chr11	TogoVar
AGBL2_chr11_47654591_47720369	47690268	A A	G G	missense_variant missense_variant	MODERATE	HG00609.hp1 NA18977.hp1 NA20752.hp2 HG00609.hp1 NA18977.hp1 NA20752.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0273 a0004c0005t0001g0302 a0004c0005t0001g0305 a0004c0005t0001g0273 a0004c0005t0001g0302 a0004c0005t0001g0305	3	356	0.0084	c.143 others(4): Show c.1439T>C	p.Leu others(6): Show p.Leu480Pro	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	10/19	1734/3586	1439/2709	480/902	chr11	TogoVar
AGBL2_chr11_47654591_47720369	47690332	C C	A A	missense_variant missense_variant	MODERATE	HG03471.hp1 HG03471.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0342 a0012c0015t0001g0342	1	356	0.0028	c.137 others(4): Show c.1375G>T	p.Ala others(6): Show p.Ala459Ser	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	10/19	1670/3586	1375/2709	459/902	chr11	TogoVar
AGBL2_chr11_47654591_47720369	47690607	G G	A A	missense_variant missense_variant	MODERATE	NA18747.hp1 NA18747.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0168 a0009c0016t0001g0168	1	356	0.0028	c.110 others(4): Show c.1100C>T	p.Thr others(6): Show p.Thr367Met	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	10/19	1395/3586	1100/2709	367/902	chr11	TogoVar
AGBL2_chr11_47654591_47720369	47690661	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00639.hp2 HG00735.hp1 others(4): Show HG00099.hp2 HG00639.hp2 HG00735.hp1 HG01123.hp1 HG01261.hp1 HG02257.hp1 HG02683.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0108 others(4): Show a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0108 a0003c0003t0002g0109 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0354	7	356	0.0197	c.104 others(4): Show c.1046G>A	p.Arg others(6): Show p.Arg349His	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	10/19	1341/3586	1046/2709	349/902	chr11	TogoVar
AGBL2_chr11_47654591_47720369	47699497	G G	A A	missense_variant missense_variant	MODERATE	NA18941.hp1 NA18970.hp1 NA19007.hp2 NA18941.hp1 NA18970.hp1 NA19007.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0292 a0005c0006t0001g0303 a0005c0006t0001g0304 a0005c0006t0001g0292 a0005c0006t0001g0303 a0005c0006t0001g0304	3	356	0.0084	c.643 others(3): Show c.643C>T	p.Pro others(6): Show p.Pro215Ser	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	8/19	938/3586	643/2709	215/902	chr11	TogoVar
AGBL2_chr11_47654591_47720369	47704575	C C	T T	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0001 a0013c0011t0001	a0013c0011t0001g0210 a0013c0011t0001g0210	1	356	0.0028	c.554 others(3): Show c.554G>A	p.Cys others(6): Show p.Cys185Tyr	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	7/19	849/3586	554/2709	185/902	chr11	TogoVar
AGBL2_chr11_47654591_47720369	47704602	A A	C C	missense_variant missense_variant	MODERATE	HG02723.hp2 HG03130.hp2 HG03486.hp2 HG02723.hp2 HG03130.hp2 HG03486.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0002 a0006c0004t0002	a0006c0004t0002g0344 a0006c0004t0002g0345 a0006c0004t0002g0346 a0006c0004t0002g0344 a0006c0004t0002g0345 a0006c0004t0002g0346	3	356	0.0084	c.527 others(3): Show c.527T>G	p.Leu others(6): Show p.Leu176Arg	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	7/19	822/3586	527/2709	176/902	chr11	TogoVar
AGBL2_chr11_47654591_47720369	47705538	C C	T T	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0002 a0008c0010t0001g0002	1	356	0.0028	c.383 others(3): Show c.383G>A	p.Arg others(6): Show p.Arg128Gln	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	6/19	678/3586	383/2709	128/902	chr11	TogoVar
AGBL2_chr11_47654591_47720369	47710389	C C	G G	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02970.hp1 HG02258.hp2 HG02970.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0124 a0007c0007t0001g0125 a0007c0007t0001g0124 a0007c0007t0001g0125	2	356	0.0056	c.220 others(3): Show c.220G>C	p.Glu others(5): Show p.Glu74Gln	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	4/19	515/3586	220/2709	74/902	chr11	TogoVar
AGBL3_chr7_134981508_135140778	134987995	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0159 a0007c0020t0001g0159	1	320	0.0031	c.62C others(2): Show c.62C>T	p.Ser others(5): Show p.Ser21Leu	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	2/17	315/3533	62/2763	21/920	chr7	TogoVar
AGBL3_chr7_134981508_135140778	134993499	C C	G G	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0009 a0008c0019t0009	a0008c0019t0009g0122 a0008c0019t0009g0122	1	320	0.0031	c.131 others(3): Show c.131C>G	p.Ser others(5): Show p.Ser44Cys	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	4/17	384/3533	131/2763	44/920	chr7	TogoVar
AGBL3_chr7_134981508_135140778	134993502	T T	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(49): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03669.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp1 NA18969.hp1 NA18992.hp1 NA19004.hp2 NA19065.hp1 NA19070.hp2 NA19081.hp1 NA19086.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0012 a0013 others(1): Show a0002 a0012 a0013 a0014	a0002c0002 a0002c0011 a0012c0009 others(2): Show a0002c0002 a0002c0011 a0012c0009 a0013c0010 a0014c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0011t0002 a0012c0009t0002 a0013c0010t0006 a0014c0012t0001	a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0056 others(49): Show a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0056 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0003g0248 a0002c0002t0006g0015 a0002c0002t0006g0057 a0002c0002t0006g0059 a0002c0002t0007g0048 a0002c0011t0002g0013 a0012c0009t0002g0016 a0013c0010t0006g0058 a0014c0012t0001g0280	52	320	0.1625	c.134 others(3): Show c.134T>A	p.Phe others(5): Show p.Phe45Tyr	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	4/17	387/3533	134/2763	45/920	chr7	TogoVar
AGBL3_chr7_134981508_135140778	134993522	C C	T T	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01257.hp1 HG01258.hp2 others(8): Show HG01070.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02273.hp1 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0002 a0004c0005t0001 a0004c0005t0002	a0004c0005t0001g0003 a0004c0005t0001g0134 a0004c0005t0001g0156 others(7): Show a0004c0005t0001g0003 a0004c0005t0001g0134 a0004c0005t0001g0156 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0166 a0004c0005t0001g0167 a0004c0005t0001g0196 a0004c0005t0002g0190	11	320	0.0344	c.154 others(3): Show c.154C>T	p.Arg others(5): Show p.Arg52Trp	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	4/17	407/3533	154/2763	52/920	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135017105	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(269): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0006 a0001c0008 others(15): Show a0001c0001 a0001c0006 a0001c0008 a0001c0013 a0002c0002 a0002c0011 a0004c0005 a0005c0016 a0005c0018 a0006c0007 a0007c0020 a0008c0019 a0009c0014 a0010c0015 a0011c0017 a0012c0009 a0013c0010 a0014c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0006t0005 a0001c0008t0003 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0011t0002 a0004c0005t0001 a0004c0005t0002 a0005c0016t0003 a0005c0018t0003 a0006c0007t0001 a0007c0020t0001 a0008c0019t0009 a0009c0014t0003 a0010c0015t0001 a0011c0017t0001 a0012c0009t0002 a0013c0010t0006 a0014c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(262): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 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 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0275 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0064 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0226 a0001c0001t0002g0274 a0001c0001t0003g0007 a0001c0001t0003g0144 a0001c0001t0003g0187 a0001c0001t0003g0192 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0273 a0001c0001t0005g0175 a0001c0001t0005g0201 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0008g0158 a0001c0001t0010g0211 a0001c0006t0005g0200 a0001c0006t0005g0279 a0001c0008t0003g0223 a0001c0008t0003g0229 a0001c0013t0001g0086 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0056 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0003g0248 a0002c0002t0006g0015 a0002c0002t0006g0057 a0002c0002t0006g0059 a0002c0002t0007g0048 a0002c0011t0002g0013 a0004c0005t0001g0003 a0004c0005t0001g0134 a0004c0005t0001g0156 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0166 a0004c0005t0001g0167 a0004c0005t0001g0196 a0004c0005t0002g0190 a0005c0016t0003g0215 a0005c0018t0003g0206 a0006c0007t0001g0249 a0006c0007t0001g0250 a0007c0020t0001g0159 a0008c0019t0009g0122 a0009c0014t0003g0232 a0010c0015t0001g0160 a0011c0017t0001g0312 a0012c0009t0002g0016 a0013c0010t0006g0058 a0014c0012t0001g0280	272	320	0.8500	c.364 others(3): Show c.364G>C	p.Glu others(6): Show p.Glu122Gln	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	5/17	617/3533	364/2763	122/920	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135034652	G G	A A	missense_variant missense_variant	MODERATE	NA19086.hp1 NA19086.hp1	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0002 a0012c0009t0002	a0012c0009t0002g0016 a0012c0009t0002g0016	1	320	0.0031	c.106 others(4): Show c.1061G>A	p.Arg others(6): Show p.Arg354Gln	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	7/17	1314/3533	1061/2763	354/920	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135034849	C C	T T	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0312 a0011c0017t0001g0312	1	320	0.0031	c.125 others(4): Show c.1258C>T	p.Arg others(6): Show p.Arg420Trp	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	7/17	1511/3533	1258/2763	420/920	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135034850	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0003 a0009c0014t0003	a0009c0014t0003g0232 a0009c0014t0003g0232	1	320	0.0031	c.125 others(4): Show c.1259G>A	p.Arg others(6): Show p.Arg420Gln	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	7/17	1512/3533	1259/2763	420/920	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135045501	C C	T T	missense_variant missense_variant	MODERATE	HG01358.hp2 HG01884.hp1 HG01358.hp2 HG01884.hp1	a0005 a0005	a0005c0016 a0005c0018 a0005c0016 a0005c0018	a0005c0016t0003 a0005c0018t0003 a0005c0016t0003 a0005c0018t0003	a0005c0016t0003g0215 a0005c0018t0003g0206 a0005c0016t0003g0215 a0005c0018t0003g0206	2	320	0.0063	c.165 others(4): Show c.1655C>T	p.Thr others(6): Show p.Thr552Met	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	10/17	1908/3533	1655/2763	552/920	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135045566	C C	T T	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0280 a0014c0012t0001g0280	1	320	0.0031	c.172 others(4): Show c.1720C>T	p.Arg others(6): Show p.Arg574Trp	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	10/17	1973/3533	1720/2763	574/920	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135045811	C C	G G	missense_variant missense_variant	MODERATE	HG04228.hp1 HG04228.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0160 a0010c0015t0001g0160	1	320	0.0031	c.174 others(4): Show c.1741C>G	p.Leu others(6): Show p.Leu581Val	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	11/17	1994/3533	1741/2763	581/920	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135081749	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp2 HG03098.hp1 HG01884.hp2 HG03098.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0249 a0006c0007t0001g0250 a0006c0007t0001g0249 a0006c0007t0001g0250	2	320	0.0063	c.206 others(4): Show c.2069T>C	p.Met others(6): Show p.Met690Thr	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	15/17	2322/3533	2069/2763	690/920	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135115539	G G	C C	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0006 a0013c0010t0006	a0013c0010t0006g0058 a0013c0010t0006g0058	1	320	0.0031	c.227 others(4): Show c.2270G>C	p.Ser others(6): Show p.Ser757Thr	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	16/17	2523/3533	2270/2763	757/920	chr7	TogoVar
AGBL4_chr1_48527854_50028954	48539679	C C	T T	missense_variant missense_variant	MODERATE	HG01943.hp1 HG02647.hp1 HG02717.hp1 others(6): Show HG01943.hp1 HG02647.hp1 HG02717.hp1 HG02896.hp1 HG02976.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0010 a0002c0003 a0005c0010	a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 others(2): Show a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0003t0008 a0005c0010t0008	a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0015 others(6): Show a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0015 a0002c0003t0001g0059 a0002c0003t0001g0070 a0002c0003t0005g0017 a0002c0003t0007g0061 a0002c0003t0008g0088 a0005c0010t0008g0023	9	104	0.0865	c.132 others(4): Show c.1327G>A	p.Val others(6): Show p.Val443Met	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	12/14	1485/2989	1327/1512	443/503	chr1	TogoVar
AGBL4_chr1_48527854_50028954	48587147	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp1 HG03453.hp2 HG02559.hp1 HG03453.hp2	a0004 a0004	a0004c0006 a0004c0009 a0004c0006 a0004c0009	a0004c0006t0004 a0004c0009t0004 a0004c0006t0004 a0004c0009t0004	a0004c0006t0004g0071 a0004c0009t0004g0020 a0004c0006t0004g0071 a0004c0009t0004g0020	2	104	0.0192	c.112 others(4): Show c.1124G>A	p.Arg others(6): Show p.Arg375Gln	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	11/14	1282/2989	1124/1512	375/503	chr1	TogoVar
AGBL4_chr1_48527854_50028954	48663232	C C	T T	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02970.hp2 HG02622.hp1 HG02970.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0008 a0003c0005t0001 a0003c0005t0008	a0003c0005t0001g0060 a0003c0005t0008g0046 a0003c0005t0001g0060 a0003c0005t0008g0046	2	104	0.0192	c.644 others(3): Show c.644G>A	p.Arg others(6): Show p.Arg215Gln	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	7/14	802/2989	644/1512	215/503	chr1	TogoVar
AGBL4_chr1_48527854_50028954	49045639	C C	T T	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0004	a0006c0008t0004g0094 a0006c0008t0004g0094	1	104	0.0096	c.539 others(3): Show c.539G>A	p.Ser others(6): Show p.Ser180Asn	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	5/14	697/2989	539/1512	180/503	chr1	TogoVar
AGBL4_chr1_48527854_50028954	49697380	G G	A A	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0008 a0005c0010t0008	a0005c0010t0008g0023 a0005c0010t0008g0023	1	104	0.0096	c.215 others(3): Show c.215C>T	p.Pro others(5): Show p.Pro72Leu	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/14	373/2989	215/1512	72/503	chr1	TogoVar
AGBL5_chr2_27046668_27075618	27054631	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0021 a0009c0014t0001g0021	1	334	0.0030	c.553 others(3): Show c.553C>T	p.Pro others(6): Show p.Pro185Ser	AGBL5	ENSG00000084693.16	transcript	ENST00000360131.5	protein_coding	5/15	725/3188	553/2661	185/886	chr2	TogoVar
AGBL5_chr2_27046668_27075618	27054682	G G	A A	missense_variant missense_variant	MODERATE	HG00738.hp1 HG02922.hp2 HG02970.hp1 others(1): Show HG00738.hp1 HG02922.hp2 HG02970.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0041 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0041 a0002c0003t0001g0164 a0002c0003t0001g0165	4	334	0.0120	c.604 others(3): Show c.604G>A	p.Gly others(6): Show p.Gly202Arg	AGBL5	ENSG00000084693.16	transcript	ENST00000360131.5	protein_coding	5/15	776/3188	604/2661	202/886	chr2	TogoVar
AGBL5_chr2_27046668_27075618	27058518	T T	C C	missense_variant missense_variant	MODERATE	NA18944.hp2 NA18944.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0148 a0005c0008t0001g0148	1	334	0.0030	c.179 others(4): Show c.1790T>C	p.Val others(6): Show p.Val597Ala	AGBL5	ENSG00000084693.16	transcript	ENST00000360131.5	protein_coding	10/15	1962/3188	1790/2661	597/886	chr2	TogoVar
AGBL5_chr2_27046668_27075618	27059261	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp2 HG06807.hp1 NA18906.hp1 HG03130.hp2 HG06807.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0042 a0003c0004t0001g0166 a0003c0004t0001g0042 a0003c0004t0001g0166	3	334	0.0090	c.194 others(4): Show c.1946G>A	p.Gly others(6): Show p.Gly649Asp	AGBL5	ENSG00000084693.16	transcript	ENST00000360131.5	protein_coding	11/15	2118/3188	1946/2661	649/886	chr2	TogoVar

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