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
ALG12_chr22_49895229_49923438	49903880	C C	G G	missense_variant missense_variant	MODERATE	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0013 a0005c0014t0013	a0005c0014t0013g0090 a0005c0014t0013g0090	1	348	0.0029	c.142 others(4): Show c.1425G>C	p.Gln others(6): Show p.Gln475His	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	10/10	1679/5330	1425/1467	475/488	chr22	TogoVar
ALG12_chr22_49895229_49923438	49904240	T T	C C	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00597.hp2 HG00642.hp1 others(29): Show HG00438.hp2 HG00597.hp2 HG00642.hp1 HG00741.hp1 HG01123.hp2 HG01433.hp1 HG01975.hp2 HG02056.hp1 HG02572.hp2 HG02698.hp1 HG02922.hp1 HG03239.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp2 NA18947.hp1 NA18952.hp2 NA18967.hp2 NA18974.hp2 NA18980.hp2 NA18989.hp2 NA18994.hp2 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp2 NA19065.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0002c0013 a0006c0016 a0002c0003 a0002c0013 a0006c0016	a0002c0003t0004 a0002c0003t0014 a0002c0003t0017 others(8): Show a0002c0003t0004 a0002c0003t0014 a0002c0003t0017 a0002c0003t0028 a0002c0003t0038 a0002c0003t0039 a0002c0003t0040 a0002c0003t0042 a0002c0003t0063 a0002c0013t0030 a0006c0016t0041	a0002c0003t0004g0007 a0002c0003t0004g0012 a0002c0003t0004g0054 others(18): Show a0002c0003t0004g0007 a0002c0003t0004g0012 a0002c0003t0004g0054 a0002c0003t0004g0056 a0002c0003t0004g0058 a0002c0003t0004g0059 a0002c0003t0004g0061 a0002c0003t0004g0062 a0002c0003t0014g0020 a0002c0003t0014g0053 a0002c0003t0014g0060 a0002c0003t0017g0015 a0002c0003t0028g0158 a0002c0003t0028g0182 a0002c0003t0038g0057 a0002c0003t0039g0055 a0002c0003t0040g0051 a0002c0003t0042g0098 a0002c0003t0063g0183 a0002c0013t0030g0052 a0006c0016t0041g0099	32	348	0.0920	c.117 others(4): Show c.1177A>G	p.Ile others(6): Show p.Ile393Val	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	9/10	1431/5330	1177/1467	393/488	chr22	TogoVar
ALG12_chr22_49895229_49923438	49909314	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp2 HG03130.hp1 HG02451.hp2 HG03130.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0023 a0004c0009t0023	a0004c0009t0023g0178 a0004c0009t0023g0179 a0004c0009t0023g0178 a0004c0009t0023g0179	2	348	0.0058	c.698 others(3): Show c.698G>A	p.Arg others(6): Show p.Arg233Gln	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	6/10	952/5330	698/1467	233/488	chr22	TogoVar
ALG12_chr22_49895229_49923438	49909906	T T	C C	missense_variant missense_variant	MODERATE	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0041 a0006c0016t0041	a0006c0016t0041g0099 a0006c0016t0041g0099	1	348	0.0029	c.652 others(3): Show c.652A>G	p.Ile others(6): Show p.Ile218Val	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	5/10	906/5330	652/1467	218/488	chr22	TogoVar
ALG12_chr22_49895229_49923438	49909927	G G	A A	missense_variant missense_variant	MODERATE	HG02040.hp2 HG03017.hp2 HG03688.hp1 others(9): Show HG02040.hp2 HG03017.hp2 HG03688.hp1 HG03927.hp1 HG04115.hp1 HG04204.hp2 NA18940.hp1 NA18943.hp1 NA18950.hp1 NA18966.hp2 NA18982.hp2 NA19004.hp1	a0003 a0003	a0003c0006 a0003c0007 a0003c0006 a0003c0007	a0003c0006t0006 a0003c0007t0001 a0003c0007t0044 others(1): Show a0003c0006t0006 a0003c0007t0001 a0003c0007t0044 a0003c0007t0056	a0003c0006t0006g0042 a0003c0006t0006g0043 a0003c0006t0006g0175 others(6): Show a0003c0006t0006g0042 a0003c0006t0006g0043 a0003c0006t0006g0175 a0003c0006t0006g0176 a0003c0006t0006g0177 a0003c0006t0006g0180 a0003c0007t0001g0030 a0003c0007t0044g0104 a0003c0007t0056g0105	12	348	0.0345	c.631 others(3): Show c.631C>T	p.Arg others(6): Show p.Arg211Cys	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	5/10	885/5330	631/1467	211/488	chr22	TogoVar
ALG12_chr22_49895229_49923438	49913438	G G	A A	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0007 a0007c0017t0007	a0007c0017t0007g0080 a0007c0017t0007g0080	1	348	0.0029	c.242 others(3): Show c.242C>T	p.Ala others(5): Show p.Ala81Val	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	3/10	496/5330	242/1467	81/488	chr22	TogoVar
ALG12_chr22_49895229_49923438	49913738	G G	A A	missense_variant missense_variant	MODERATE	HG03139.hp1 HG03139.hp1	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0067 a0008c0018t0067	a0008c0018t0067g0185 a0008c0018t0067g0185	1	348	0.0029	c.28C others(2): Show c.28C>T	p.Arg others(5): Show p.Arg10Trp	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	2/10	282/5330	28/1467	10/488	chr22	TogoVar
ALG13_chrX_111676170_111765649	111711720	C C	T T	missense_variant missense_variant	MODERATE	NA19086.hp1 NA19086.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0145 a0010c0018t0001g0145	1	191	0.0052	c.880 others(3): Show c.880C>T	p.Pro others(6): Show p.Pro294Ser	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	6/27	929/4113	880/3414	294/1137	chrX	TogoVar
ALG13_chrX_111676170_111765649	111712521	T T	C C	missense_variant missense_variant	MODERATE	NA19068.hp1 NA19068.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0001 a0009c0019t0001	a0009c0019t0001g0132 a0009c0019t0001g0132	1	191	0.0052	c.923 others(3): Show c.923T>C	p.Leu others(6): Show p.Leu308Pro	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	7/27	972/4113	923/3414	308/1137	chrX	TogoVar
ALG13_chrX_111676170_111765649	111721664	A A	G G	missense_variant missense_variant	MODERATE	HG01496.hp2 HG01496.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0106 a0008c0016t0001g0106	1	191	0.0052	c.138 others(4): Show c.1388A>G	p.Glu others(6): Show p.Glu463Gly	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	12/27	1437/4113	1388/3414	463/1137	chrX	TogoVar
ALG13_chrX_111676170_111765649	111744806	C C	T T	missense_variant missense_variant	MODERATE	NA18995.hp1 NA18995.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0163 a0006c0013t0001g0163	1	191	0.0052	c.283 others(4): Show c.2834C>T	p.Pro others(6): Show p.Pro945Leu	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	24/27	2883/4113	2834/3414	945/1137	chrX	TogoVar
ALG14_chr1_94969405_95077951	95027238	C C	T T	missense_variant missense_variant	MODERATE	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0125 a0002c0004t0125	a0002c0004t0125g0229 a0002c0004t0125g0229	1	388	0.0026	c.311 others(3): Show c.311G>A	p.Arg others(6): Show p.Arg104Gln	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding	3/4	364/9375	311/651	104/216	chr1	TogoVar
ALG1L2_chr3_130076831_130103390	130082030	C C	T T	missense_variant missense_variant	MODERATE	HG01255.hp1 HG02257.hp2 HG02559.hp2 others(5): Show HG01255.hp1 HG02257.hp2 HG02559.hp2 HG02886.hp1 HG02895.hp2 HG03041.hp2 HG03225.hp1 NA19043.hp1	a0003 a0008 a0003 a0008	a0003c0005 a0003c0011 a0008c0019 a0003c0005 a0003c0011 a0008c0019	a0003c0005t0001 a0003c0011t0001 a0008c0019t0001 a0003c0005t0001 a0003c0011t0001 a0008c0019t0001	a0003c0005t0001g0039 a0003c0005t0001g0040 a0003c0005t0001g0041 others(5): Show a0003c0005t0001g0039 a0003c0005t0001g0040 a0003c0005t0001g0041 a0003c0005t0001g0042 a0003c0005t0001g0043 a0003c0011t0001g0036 a0003c0011t0001g0038 a0008c0019t0001g0037	8	261	0.0307	c.14C others(2): Show c.14C>T	p.Ala others(4): Show p.Ala5Val	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	1/8	200/969	14/648	5/215	chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130091305	C C	A A	missense_variant missense_variant	MODERATE	NA19000.hp1 NA19000.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0116 a0007c0013t0001g0116	1	261	0.0038	c.65C others(2): Show c.65C>A	p.Ala others(5): Show p.Ala22Glu	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	2/8	251/969	65/648	22/215	chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130092130	G G	A A	missense_variant missense_variant	MODERATE	HG01255.hp1 HG02559.hp2 HG02886.hp1 others(8): Show HG01255.hp1 HG02559.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG03041.hp2 HG03225.hp1 NA18522.hp2 NA18967.hp2 NA19043.hp1 NA19066.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0005 a0003c0011 a0004c0010 others(1): Show a0003c0005 a0003c0011 a0004c0010 a0005c0009	a0003c0005t0001 a0003c0011t0001 a0004c0010t0001 others(2): Show a0003c0005t0001 a0003c0011t0001 a0004c0010t0001 a0005c0009t0001 a0005c0009t0005	a0003c0005t0001g0039 a0003c0005t0001g0040 a0003c0005t0001g0041 others(7): Show a0003c0005t0001g0039 a0003c0005t0001g0040 a0003c0005t0001g0041 a0003c0005t0001g0042 a0003c0005t0001g0043 a0003c0011t0001g0036 a0003c0011t0001g0038 a0004c0010t0001g0025 a0005c0009t0001g0150 a0005c0009t0005g0046	11	261	0.0422	c.161 others(3): Show c.161G>A	p.Arg others(5): Show p.Arg54Gln	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	3/8	347/969	161/648	54/215	chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130097179	C C	T T	missense_variant missense_variant	MODERATE	NA18942.hp2 NA18942.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0003 a0006c0016t0001g0003	1	261	0.0038	c.544 others(3): Show c.544C>T	p.His others(6): Show p.His182Tyr	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding	7/8	730/969	544/648	182/215	chr3	TogoVar
ALG1_chr16_5066843_5092379	5071857	C C	A A	missense_variant missense_variant	MODERATE	HG03688.hp2 HG03688.hp2	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0018 a0010c0008t0018	a0010c0008t0018g0081 a0010c0008t0018g0081	1	444	0.0023	c.8C> others(1): Show c.8C>A	p.Ala others(4): Show p.Ala3Asp	ALG1	ENSG00000033011.14	transcript	ENST00000262374.10	protein_coding	1/13	15/3900	8/1395	3/464	chr16	TogoVar
ALG1_chr16_5066843_5092379	5071911	G G	A A	missense_variant missense_variant	MODERATE	NA18948.hp1 NA18948.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0001 a0004c0010t0001g0001	1	444	0.0023	c.62G others(2): Show c.62G>A	p.Gly others(5): Show p.Gly21Glu	ALG1	ENSG00000033011.14	transcript	ENST00000262374.10	protein_coding	1/13	69/3900	62/1395	21/464	chr16	TogoVar
ALG1_chr16_5066843_5092379	5073200	A A	C C	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0028 a0005c0018t0028	a0005c0018t0028g0089 a0005c0018t0028g0089	1	444	0.0023	c.334 others(3): Show c.334A>C	p.Met others(6): Show p.Met112Leu	ALG1	ENSG00000033011.14	transcript	ENST00000262374.10	protein_coding	3/13	341/3900	334/1395	112/464	chr16	TogoVar
ALG1_chr16_5066843_5092379	5077459	T T	G G	missense_variant missense_variant	MODERATE	NA18906.hp2 NA19043.hp2 NA18906.hp2 NA19043.hp2	a0005 a0006 a0005 a0006	a0005c0018 a0006c0021 a0005c0018 a0006c0021	a0005c0018t0028 a0006c0021t0003 a0005c0018t0028 a0006c0021t0003	a0005c0018t0028g0089 a0006c0021t0003g0087 a0005c0018t0028g0089 a0006c0021t0003g0087	2	444	0.0045	c.554 others(3): Show c.554T>G	p.Phe others(6): Show p.Phe185Cys	ALG1	ENSG00000033011.14	transcript	ENST00000262374.10	protein_coding	5/13	561/3900	554/1395	185/464	chr16	TogoVar
ALG1_chr16_5066843_5092379	5078005	C C	T T	missense_variant missense_variant	MODERATE	NA19067.hp1 NA19067.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0027 a0007c0017t0001g0027	1	444	0.0023	c.728 others(3): Show c.728C>T	p.Pro others(6): Show p.Pro243Leu	ALG1	ENSG00000033011.14	transcript	ENST00000262374.10	protein_coding	6/13	735/3900	728/1395	243/464	chr16	TogoVar
ALG1_chr16_5066843_5092379	5078816	G G	A A	missense_variant missense_variant	MODERATE	HG00597.hp1 HG01192.hp2 HG01255.hp1 others(48): Show HG00597.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01928.hp1 HG01934.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02559.hp1 HG03654.hp1 HG03942.hp2 NA18943.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18956.hp1 NA18959.hp1 NA18963.hp2 NA18965.hp2 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18993.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19058.hp1 NA19062.hp2 NA19067.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0008 a0003c0004t0021 others(2): Show a0003c0004t0002 a0003c0004t0008 a0003c0004t0021 a0003c0004t0036 a0003c0004t0037	a0003c0004t0002g0002 a0003c0004t0002g0015 a0003c0004t0002g0030 others(16): Show a0003c0004t0002g0002 a0003c0004t0002g0015 a0003c0004t0002g0030 a0003c0004t0002g0045 a0003c0004t0002g0059 a0003c0004t0002g0061 a0003c0004t0002g0062 a0003c0004t0002g0064 a0003c0004t0002g0065 a0003c0004t0002g0066 a0003c0004t0002g0069 a0003c0004t0002g0088 a0003c0004t0008g0002 a0003c0004t0008g0043 a0003c0004t0008g0046 a0003c0004t0021g0002 a0003c0004t0021g0082 a0003c0004t0036g0043 a0003c0004t0037g0002	51	444	0.1149	c.800 others(3): Show c.800G>A	p.Ser others(6): Show p.Ser267Asn	ALG1	ENSG00000033011.14	transcript	ENST00000262374.10	protein_coding	7/13	807/3900	800/1395	267/464	chr16	TogoVar
ALG1_chr16_5066843_5092379	5079073	A A	G G	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01167.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0001 a0008c0015t0001g0001	1	444	0.0023	c.872 others(3): Show c.872A>G	p.Asp others(6): Show p.Asp291Gly	ALG1	ENSG00000033011.14	transcript	ENST00000262374.10	protein_coding	8/13	879/3900	872/1395	291/464	chr16	TogoVar
ALG1_chr16_5066843_5092379	5084773	T T	A A	missense_variant missense_variant	MODERATE	HG00597.hp2 HG00738.hp1 HG01070.hp2 others(69): Show HG00597.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03471.hp1 HG03540.hp2 HG03688.hp2 HG06807.hp2 NA18747.hp1 NA18941.hp1 NA18947.hp1 NA18948.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18980.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19064.hp1 NA19068.hp2 NA19082.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp2 NA20752.hp1	a0002 a0010 a0002 a0010	a0002c0003 a0002c0005 a0002c0014 others(1): Show a0002c0003 a0002c0005 a0002c0014 a0010c0008	a0002c0003t0004 a0002c0003t0009 a0002c0003t0010 others(10): Show a0002c0003t0004 a0002c0003t0009 a0002c0003t0010 a0002c0003t0018 a0002c0003t0019 a0002c0003t0023 a0002c0003t0025 a0002c0003t0027 a0002c0005t0004 a0002c0005t0009 a0002c0005t0011 a0002c0014t0004 a0010c0008t0018	a0002c0003t0004g0003 a0002c0003t0004g0020 a0002c0003t0004g0056 others(23): Show a0002c0003t0004g0003 a0002c0003t0004g0020 a0002c0003t0004g0056 a0002c0003t0004g0057 a0002c0003t0004g0058 a0002c0003t0004g0072 a0002c0003t0004g0073 a0002c0003t0004g0074 a0002c0003t0004g0075 a0002c0003t0004g0119 a0002c0003t0009g0003 a0002c0003t0009g0078 a0002c0003t0010g0010 a0002c0003t0018g0033 a0002c0003t0019g0003 a0002c0003t0023g0033 a0002c0003t0025g0010 a0002c0003t0027g0055 a0002c0005t0004g0032 a0002c0005t0004g0077 a0002c0005t0004g0101 a0002c0005t0009g0037 a0002c0005t0011g0016 a0002c0005t0011g0085 a0002c0014t0004g0118 a0010c0008t0018g0081	72	444	0.1622	c.128 others(4): Show c.1287T>A	p.Asp others(6): Show p.Asp429Glu	ALG1	ENSG00000033011.14	transcript	ENST00000262374.10	protein_coding	13/13	1294/3900	1287/1395	429/464	chr16	TogoVar
ALG2_chr9_99211425_99226942	99218053	G G	A A	missense_variant missense_variant	MODERATE	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0021 a0006c0009t0001g0021	1	376	0.0027	c.113 others(4): Show c.1132C>T	p.Arg others(6): Show p.Arg378Cys	ALG2	ENSG00000119523.10	transcript	ENST00000476832.2	protein_coding	2/2	1180/2808	1132/1251	378/416	chr9	TogoVar
ALG2_chr9_99211425_99226942	99218085	A A	G G	missense_variant missense_variant	MODERATE	HG00639.hp2 HG00735.hp2 HG01256.hp1 others(6): Show HG00639.hp2 HG00735.hp2 HG01256.hp1 HG01934.hp1 HG02300.hp2 HG03710.hp2 NA18962.hp1 NA19078.hp1 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0006 a0002c0003t0001 a0002c0003t0006	a0002c0003t0001g0005 a0002c0003t0006g0014 a0002c0003t0001g0005 a0002c0003t0006g0014	9	376	0.0239	c.110 others(4): Show c.1100T>C	p.Val others(6): Show p.Val367Ala	ALG2	ENSG00000119523.10	transcript	ENST00000476832.2	protein_coding	2/2	1148/2808	1100/1251	367/416	chr9	TogoVar
ALG2_chr9_99211425_99226942	99218626	T T	C C	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0023 a0005c0011t0001g0023	1	376	0.0027	c.559 others(3): Show c.559A>G	p.Thr others(6): Show p.Thr187Ala	ALG2	ENSG00000119523.10	transcript	ENST00000476832.2	protein_coding	2/2	607/2808	559/1251	187/416	chr9	TogoVar
ALG2_chr9_99211425_99226942	99221810	C C	G G	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0016 a0007c0007t0001g0016	1	376	0.0027	c.85G others(2): Show c.85G>C	p.Ala others(5): Show p.Ala29Pro	ALG2	ENSG00000119523.10	transcript	ENST00000476832.2	protein_coding	1/2	133/2808	85/1251	29/416	chr9	TogoVar
ALG2_chr9_99211425_99226942	99221864	A A	G G	missense_variant missense_variant	MODERATE	HG00639.hp2 HG00735.hp2 HG01256.hp1 others(6): Show HG00639.hp2 HG00735.hp2 HG01256.hp1 HG01934.hp1 HG02300.hp2 HG03710.hp2 NA18962.hp1 NA19078.hp1 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0006 a0002c0003t0001 a0002c0003t0006	a0002c0003t0001g0005 a0002c0003t0006g0014 a0002c0003t0001g0005 a0002c0003t0006g0014	9	376	0.0239	c.31T others(2): Show c.31T>C	p.Ser others(5): Show p.Ser11Pro	ALG2	ENSG00000119523.10	transcript	ENST00000476832.2	protein_coding	1/2	79/2808	31/1251	11/416	chr9	TogoVar
ALG2_chr9_99211425_99226942	99221865	G G	C C	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02717.hp1 HG02717.hp2 others(2): Show HG02145.hp1 HG02717.hp1 HG02717.hp2 HG03688.hp2 HG03942.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0003 a0003c0004t0001 a0003c0004t0003	a0003c0004t0001g0012 a0003c0004t0001g0027 a0003c0004t0003g0011 a0003c0004t0001g0012 a0003c0004t0001g0027 a0003c0004t0003g0011	5	376	0.0133	c.30C others(2): Show c.30C>G	p.Asp others(5): Show p.Asp10Glu	ALG2	ENSG00000119523.10	transcript	ENST00000476832.2	protein_coding	1/2	78/2808	30/1251	10/416	chr9	TogoVar
ALG2_chr9_99211425_99226942	99221878	C C	G G	missense_variant missense_variant	MODERATE	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0013 a0004c0005t0001g0013	1	376	0.0027	c.17G others(2): Show c.17G>C	p.Gly others(4): Show p.Gly6Ala	ALG2	ENSG00000119523.10	transcript	ENST00000476832.2	protein_coding	1/2	65/2808	17/1251	6/416	chr9	TogoVar
ALG3_chr3_184237301_184253962	184242874	A A	C C	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0057 a0004c0004t0002g0057	1	340	0.0029	c.109 others(4): Show c.1093T>G	p.Phe others(6): Show p.Phe365Val	ALG3	ENSG00000214160.10	transcript	ENST00000397676.8	protein_coding	8/9	1115/1552	1093/1317	365/438	chr3	TogoVar
ALG3_chr3_184237301_184253962	184242883	C C	T T	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0037 a0003c0007t0001g0037	1	340	0.0029	c.108 others(4): Show c.1084G>A	p.Val others(6): Show p.Val362Ile	ALG3	ENSG00000214160.10	transcript	ENST00000397676.8	protein_coding	8/9	1106/1552	1084/1317	362/438	chr3	TogoVar
ALG3_chr3_184237301_184253962	184242943	G G	T T	missense_variant missense_variant	MODERATE	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0050 a0002c0006t0001g0050	1	340	0.0029	c.102 others(4): Show c.1024C>A	p.Leu others(6): Show p.Leu342Ile	ALG3	ENSG00000214160.10	transcript	ENST00000397676.8	protein_coding	8/9	1046/1552	1024/1317	342/438	chr3	TogoVar
ALG3_chr3_184237301_184253962	184243616	A A	G G	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0031 a0005c0005t0001g0031	1	340	0.0029	c.947 others(3): Show c.947T>C	p.Ile others(6): Show p.Ile316Thr	ALG3	ENSG00000214160.10	transcript	ENST00000397676.8	protein_coding	7/9	969/1552	947/1317	316/438	chr3	TogoVar
ALG3_chr3_184237301_184253962	184243833	T T	G G	missense_variant missense_variant	MODERATE	HG03041.hp1 HG03041.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0052 a0006c0008t0001g0052	1	340	0.0029	c.890 others(3): Show c.890A>C	p.His others(6): Show p.His297Pro	ALG3	ENSG00000214160.10	transcript	ENST00000397676.8	protein_coding	6/9	912/1552	890/1317	297/438	chr3	TogoVar
ALG3_chr3_184237301_184253962	184245593	T T	C C	missense_variant missense_variant	MODERATE	HG01070.hp2 HG01070.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0027 a0007c0009t0002g0027	1	340	0.0029	c.319 others(3): Show c.319A>G	p.Ile others(6): Show p.Ile107Val	ALG3	ENSG00000214160.10	transcript	ENST00000397676.8	protein_coding	3/9	341/1552	319/1317	107/438	chr3	TogoVar
ALG5_chr13_36944738_37004340	36949948	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG03130.hp2 HG03225.hp1 HG00609.hp1 HG03130.hp2 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0171 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0171 a0002c0002t0001g0201 a0002c0002t0001g0202	3	276	0.0109	c.969 others(3): Show c.969G>A	p.Met others(6): Show p.Met323Ile	ALG5	ENSG00000120697.10	transcript	ENST00000239891.4	protein_coding	10/10	1009/1219	969/975	323/324	chr13	TogoVar
ALG5_chr13_36944738_37004340	36985714	C C	A A	missense_variant missense_variant	MODERATE	HG01934.hp2 HG01934.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0173 a0004c0005t0001g0173	1	276	0.0036	c.474 others(3): Show c.474G>T	p.Lys others(6): Show p.Lys158Asn	ALG5	ENSG00000120697.10	transcript	ENST00000239891.4	protein_coding	6/10	514/1219	474/975	158/324	chr13	TogoVar
ALG5_chr13_36944738_37004340	36995485	A A	G G	missense_variant missense_variant	MODERATE	HG02886.hp1 HG02895.hp2 HG02886.hp1 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0199 a0003c0003t0001g0200	2	276	0.0073	c.178 others(3): Show c.178T>C	p.Trp others(5): Show p.Trp60Arg	ALG5	ENSG00000120697.10	transcript	ENST00000239891.4	protein_coding	2/10	218/1219	178/975	60/324	chr13	TogoVar
ALG5_chr13_36944738_37004340	36999245	G G	C C	missense_variant missense_variant	MODERATE	HG02071.hp1 HG02071.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0240 a0005c0006t0001g0240	1	276	0.0036	c.56C others(2): Show c.56C>G	p.Ala others(5): Show p.Ala19Gly	ALG5	ENSG00000120697.10	transcript	ENST00000239891.4	protein_coding	1/10	96/1219	56/975	19/324	chr13	TogoVar
ALG6_chr1_63362627_63443553	63406361	T T	C C	missense_variant missense_variant	MODERATE	HG00733.hp1 HG00741.hp2 HG01069.hp2 others(1): Show HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0005 a0003c0005t0003g0104 a0003c0005t0003g0120 others(1): Show a0003c0005t0003g0005 a0003c0005t0003g0104 a0003c0005t0003g0120 a0003c0005t0003g0141	4	388	0.0103	c.391 others(3): Show c.391T>C	p.Tyr others(6): Show p.Tyr131His	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	6/15	659/3325	391/1524	131/507	chr1	TogoVar
ALG6_chr1_63362627_63443553	63411329	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0020 a0006c0009t0020	a0006c0009t0020g0322 a0006c0009t0020g0322	1	388	0.0026	c.678 others(3): Show c.678G>T	p.Lys others(6): Show p.Lys226Asn	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	8/15	946/3325	678/1524	226/507	chr1	TogoVar
ALG6_chr1_63362627_63443553	63411996	A A	G G	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0203 a0004c0008t0003g0203	1	388	0.0026	c.751 others(3): Show c.751A>G	p.Thr others(6): Show p.Thr251Ala	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	9/15	1019/3325	751/1524	251/507	chr1	TogoVar
ALG6_chr1_63362627_63443553	63415881	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(311): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0003c0005 a0004c0008 a0005c0006 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0003t0009 a0001c0003t0010 a0001c0003t0012 a0001c0003t0014 a0001c0004t0004 a0001c0004t0006 a0001c0007t0001 a0003c0005t0003 a0004c0008t0003 a0005c0006t0002 a0006c0009t0020	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0050 others(306): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0247 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0297 a0001c0001t0001g0320 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0360 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0160 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0331 a0001c0001t0002g0362 a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0339 a0001c0001t0004g0001 a0001c0001t0004g0026 a0001c0001t0004g0034 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0068 a0001c0001t0004g0098 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0187 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0332 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0139 a0001c0001t0007g0006 a0001c0001t0007g0103 a0001c0001t0007g0108 a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0008g0059 a0001c0001t0008g0234 a0001c0001t0008g0235 a0001c0001t0008g0236 a0001c0001t0008g0237 a0001c0001t0010g0333 a0001c0001t0010g0334 a0001c0001t0011g0189 a0001c0001t0011g0190 a0001c0001t0011g0191 a0001c0001t0013g0155 a0001c0001t0015g0380 a0001c0001t0017g0035 a0001c0001t0018g0004 a0001c0001t0019g0147 a0001c0003t0009g0192 a0001c0003t0009g0193 a0001c0003t0009g0194 a0001c0003t0009g0195 a0001c0003t0010g0324 a0001c0003t0012g0238 a0001c0003t0012g0239 a0001c0003t0014g0240 a0001c0004t0004g0200 a0001c0004t0006g0156 a0001c0004t0006g0198 a0001c0004t0006g0199 a0001c0004t0006g0201 a0001c0004t0006g0231 a0001c0004t0006g0325 a0001c0007t0001g0094 a0003c0005t0003g0005 a0003c0005t0003g0104 a0003c0005t0003g0120 a0003c0005t0003g0141 a0004c0008t0003g0203 a0005c0006t0002g0284 a0006c0009t0020g0322	314	388	0.8093	c.911 others(3): Show c.911C>T	p.Ser others(6): Show p.Ser304Phe	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	11/15	1179/3325	911/1524	304/507	chr1	TogoVar
ALG6_chr1_63362627_63443553	63419415	G G	C C	missense_variant missense_variant	MODERATE	HG03710.hp1 HG03710.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0284 a0005c0006t0002g0284	1	388	0.0026	c.103 others(4): Show c.1033G>C	p.Glu others(6): Show p.Glu345Gln	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	12/15	1301/3325	1033/1524	345/507	chr1	TogoVar
ALG8_chr11_78095946_78144626	78101029	C C	T T	missense_variant missense_variant	MODERATE	HG04228.hp1 HG04228.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0098 a0006c0007t0001g0098	1	402	0.0025	c.151 others(4): Show c.1516G>A	p.Ala others(6): Show p.Ala506Thr	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	13/13	1554/1637	1516/1581	506/526	chr11	TogoVar
ALG8_chr11_78095946_78144626	78101031	T T	C C	missense_variant missense_variant	MODERATE	HG00621.hp1 HG00621.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0204 a0007c0008t0001g0204	1	402	0.0025	c.151 others(4): Show c.1514A>G	p.Tyr others(6): Show p.Tyr505Cys	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	13/13	1552/1637	1514/1581	505/526	chr11	TogoVar
ALG8_chr11_78095946_78144626	78104013	A A	G G	missense_variant missense_variant	MODERATE	HG00738.hp2 HG02148.hp1 HG00738.hp2 HG02148.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0257 a0004c0005t0001g0258 a0004c0005t0001g0257 a0004c0005t0001g0258	2	402	0.0050	c.131 others(4): Show c.1316T>C	p.Ile others(6): Show p.Ile439Thr	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	12/13	1354/1637	1316/1581	439/526	chr11	TogoVar
ALG8_chr11_78095946_78144626	78112652	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp1 HG02630.hp2 HG02809.hp1 others(2): Show HG02451.hp1 HG02630.hp2 HG02809.hp1 HG03098.hp1 HG03225.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0224 a0003c0004t0001g0226 a0003c0004t0001g0227 others(2): Show a0003c0004t0001g0224 a0003c0004t0001g0226 a0003c0004t0001g0227 a0003c0004t0001g0228 a0003c0004t0001g0244	5	402	0.0124	c.896 others(3): Show c.896T>C	p.Ile others(6): Show p.Ile299Thr	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	8/13	934/1637	896/1581	299/526	chr11	TogoVar

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