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
ALDH9A1_chr1_165657216_165703562	165680599	G G	C C	missense_variant missense_variant	MODERATE	NA19062.hp1 NA19062.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0002 a0006c0016t0002	a0006c0016t0002g0217 a0006c0016t0002g0217	1	332	0.0030	c.677 others(3): Show c.677C>G	p.Pro others(6): Show p.Pro226Arg	ALDH9A1	ENSG00000143149.13	transcript	ENST00000354775.5	protein_coding	5/11	681/2395	677/1557	226/518	chr1	TogoVar
ALDH9A1_chr1_165657216_165703562	165680614	C C	G G	missense_variant missense_variant	MODERATE	HG01928.hp1 HG01934.hp1 HG01934.hp2 others(12): Show HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG02109.hp1 HG02293.hp2 HG02970.hp1 HG03669.hp2 HG03831.hp1 HG03927.hp1 NA18971.hp1 NA18983.hp1 NA18987.hp2 NA19043.hp1 NA21309.hp1	a0002 a0002	a0002c0005 a0002c0008 a0002c0005 a0002c0008	a0002c0005t0001 a0002c0005t0002 a0002c0005t0010 others(1): Show a0002c0005t0001 a0002c0005t0002 a0002c0005t0010 a0002c0008t0004	a0002c0005t0001g0002 a0002c0005t0001g0031 a0002c0005t0001g0131 others(8): Show a0002c0005t0001g0002 a0002c0005t0001g0031 a0002c0005t0001g0131 a0002c0005t0001g0132 a0002c0005t0001g0133 a0002c0005t0001g0136 a0002c0005t0002g0129 a0002c0005t0010g0130 a0002c0008t0004g0011 a0002c0008t0004g0160 a0002c0008t0004g0260	15	332	0.0452	c.662 others(3): Show c.662G>C	p.Ser others(6): Show p.Ser221Thr	ALDH9A1	ENSG00000143149.13	transcript	ENST00000354775.5	protein_coding	5/11	666/2395	662/1557	221/518	chr1	TogoVar
ALDH9A1_chr1_165657216_165703562	165683064	T T	G G	missense_variant missense_variant	MODERATE	NA18975.hp1 NA19087.hp2 NA18975.hp1 NA19087.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0065 a0005c0010t0002g0105 a0005c0010t0002g0065 a0005c0010t0002g0105	2	332	0.0060	c.374 others(3): Show c.374A>C	p.Lys others(6): Show p.Lys125Thr	ALDH9A1	ENSG00000143149.13	transcript	ENST00000354775.5	protein_coding	3/11	378/2395	374/1557	125/518	chr1	TogoVar
ALDH9A1_chr1_165657216_165703562	165698477	C C	T T	missense_variant missense_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0029 a0007c0012t0001g0029	1	332	0.0030	c.82G others(2): Show c.82G>A	p.Gly others(5): Show p.Gly28Ser	ALDH9A1	ENSG00000143149.13	transcript	ENST00000354775.5	protein_coding	1/11	86/2395	82/1557	28/518	chr1	TogoVar
ALDOA_chr16_30060760_30075414	30066907	C C	T T	missense_variant missense_variant	MODERATE	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0002 a0002c0010t0001g0002	1	370	0.0027	c.10C others(2): Show c.10C>T	p.Arg others(4): Show p.Arg4Cys	ALDOA	ENSG00000149925.22	transcript	ENST00000642816.3	protein_coding	2/10	191/1640	10/1257	4/418	chr16	TogoVar
ALDOA_chr16_30060760_30075414	30067252	A A	T T	missense_variant missense_variant	MODERATE	NA19070.hp2 NA19070.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0006 a0003c0009t0001g0006	1	370	0.0027	c.160 others(3): Show c.160A>T	p.Thr others(5): Show p.Thr54Ser	ALDOA	ENSG00000149925.22	transcript	ENST00000642816.3	protein_coding	3/10	341/1640	160/1257	54/418	chr16	TogoVar
ALDOA_chr16_30060760_30075414	30067318	C C	T T	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0001 a0004c0008t0001g0001	1	370	0.0027	c.226 others(3): Show c.226C>T	p.Arg others(5): Show p.Arg76Cys	ALDOA	ENSG00000149925.22	transcript	ENST00000642816.3	protein_coding	3/10	407/1640	226/1257	76/418	chr16	TogoVar
ALDOA_chr16_30060760_30075414	30067566	G G	A A	missense_variant missense_variant	MODERATE	NA18612.hp2 NA18612.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0002 a0005c0004t0001g0002	1	370	0.0027	c.391 others(3): Show c.391G>A	p.Val others(6): Show p.Val131Ile	ALDOA	ENSG00000149925.22	transcript	ENST00000642816.3	protein_coding	4/10	572/1640	391/1257	131/418	chr16	TogoVar
ALDOA_chr16_30060760_30075414	30069511	G G	C C	missense_variant missense_variant	MODERATE	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0041 a0006c0005t0001g0041	1	370	0.0027	c.799 others(3): Show c.799G>C	p.Val others(6): Show p.Val267Leu	ALDOA	ENSG00000149925.22	transcript	ENST00000642816.3	protein_coding	8/10	980/1640	799/1257	267/418	chr16	TogoVar
ALDOA_chr16_30060760_30075414	30070156	G G	A A	missense_variant missense_variant	MODERATE	HG01346.hp2 HG01346.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0003 a0007c0006t0001g0003	1	370	0.0027	c.120 others(4): Show c.1201G>A	p.Gly others(6): Show p.Gly401Ser	ALDOA	ENSG00000149925.22	transcript	ENST00000642816.3	protein_coding	10/10	1382/1640	1201/1257	401/418	chr16	TogoVar
ALDOB_chr9_101415560_101440774	101426560	C C	G G	missense_variant missense_variant	MODERATE	HG04228.hp1 NA18954.hp2 NA18955.hp2 others(11): Show HG04228.hp1 NA18954.hp2 NA18955.hp2 NA18972.hp2 NA18979.hp1 NA18986.hp2 NA18993.hp1 NA18998.hp2 NA19012.hp2 NA19054.hp2 NA19064.hp2 NA19070.hp1 NA19078.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0030 a0002c0002t0001g0079 others(1): Show a0002c0002t0001g0008 a0002c0002t0001g0030 a0002c0002t0001g0079 a0002c0002t0001g0112	14	418	0.0335	c.619 others(3): Show c.619G>C	p.Glu others(6): Show p.Glu207Gln	ALDOB	ENSG00000136872.21	transcript	ENST00000647789.2	protein_coding	6/9	695/2420	619/1095	207/364	chr9	TogoVar
ALDOB_chr9_101415560_101440774	101427498	G G	T T	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00735.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0075 a0004c0004t0001g0075	1	418	0.0024	c.524 others(3): Show c.524C>A	p.Ala others(6): Show p.Ala175Asp	ALDOB	ENSG00000136872.21	transcript	ENST00000647789.2	protein_coding	5/9	600/2420	524/1095	175/364	chr9	TogoVar
ALDOB_chr9_101415560_101440774	101427577	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0082 a0003c0006t0002g0082	1	418	0.0024	c.445 others(3): Show c.445C>T	p.Arg others(6): Show p.Arg149Cys	ALDOB	ENSG00000136872.21	transcript	ENST00000647789.2	protein_coding	5/9	521/2420	445/1095	149/364	chr9	TogoVar
ALDOB_chr9_101415560_101440774	101430811	T T	C C	missense_variant missense_variant	MODERATE	NA18978.hp1 NA18978.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0117 a0005c0007t0002g0117	1	418	0.0024	c.77A others(2): Show c.77A>G	p.Asn others(5): Show p.Asn26Ser	ALDOB	ENSG00000136872.21	transcript	ENST00000647789.2	protein_coding	2/9	153/2420	77/1095	26/364	chr9	TogoVar
ALDOC_chr17_28568120_28581895	28573799	T T	C C	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0020 a0005c0009t0001g0020	1	352	0.0028	c.935 others(3): Show c.935A>G	p.Asn others(6): Show p.Asn312Ser	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	8/9	1042/1608	935/1095	312/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28574835	C C	T T	missense_variant missense_variant	MODERATE	NA18962.hp2 NA18986.hp2 NA19007.hp1 NA18962.hp2 NA18986.hp2 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	3	352	0.0085	c.401 others(3): Show c.401G>A	p.Arg others(6): Show p.Arg134His	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	5/9	508/1608	401/1095	134/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575431	A A	T T	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.102 others(3): Show c.102T>A	p.Asp others(5): Show p.Asp34Glu	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	209/1608	102/1095	34/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575443	A A	C C	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.90T others(2): Show c.90T>G	p.Ile others(5): Show p.Ile30Met	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	197/1608	90/1095	30/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575444	A A	T T	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.89T others(2): Show c.89T>A	p.Ile others(5): Show p.Ile30Asn	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	196/1608	89/1095	30/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575445	T T	G G	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.88A others(2): Show c.88A>C	p.Ile others(5): Show p.Ile30Leu	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	195/1608	88/1095	30/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575449	T T	A A	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.84A others(2): Show c.84A>T	p.Lys others(5): Show p.Lys28Asn	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	191/1608	84/1095	28/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575450	T T	C C	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.83A others(2): Show c.83A>G	p.Lys others(5): Show p.Lys28Arg	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	190/1608	83/1095	28/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575457	G G	A A	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.76C others(2): Show c.76C>T	p.Pro others(5): Show p.Pro26Ser	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	183/1608	76/1095	26/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575459	G G	C C	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.74C others(2): Show c.74C>G	p.Ala others(5): Show p.Ala25Gly	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	181/1608	74/1095	25/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575465	A A	T T	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.68T others(2): Show c.68T>A	p.Ile others(5): Show p.Ile23Asn	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	175/1608	68/1095	23/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575480	T T	G G	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.53A others(2): Show c.53A>C	p.Asp others(5): Show p.Asp18Ala	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	160/1608	53/1095	18/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575489	T T	A A	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.44A others(2): Show c.44A>T	p.Glu others(5): Show p.Glu15Val	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	151/1608	44/1095	15/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575492	T T	A A	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.41A others(2): Show c.41A>T	p.Lys others(5): Show p.Lys14Met	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	148/1608	41/1095	14/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575493	T T	G G	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.40A others(2): Show c.40A>C	p.Lys others(5): Show p.Lys14Gln	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	147/1608	40/1095	14/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575501	T T	C C	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.32A others(2): Show c.32A>G	p.Glu others(5): Show p.Glu11Gly	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	139/1608	32/1095	11/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575516	G G	A A	missense_variant missense_variant	MODERATE	HG01192.hp1 HG01192.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0023 a0004c0011t0001g0023	1	352	0.0028	c.17C others(2): Show c.17C>T	p.Pro others(4): Show p.Pro6Leu	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	124/1608	17/1095	6/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575525	T T	A A	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.8A> others(1): Show c.8A>T	p.His others(4): Show p.His3Leu	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	115/1608	8/1095	3/364	chr17	TogoVar
ALDOC_chr17_28568120_28581895	28575529	G G	T T	missense_variant missense_variant	MODERATE	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0013 a0003c0004t0002g0013	1	352	0.0028	c.4C> others(1): Show c.4C>A	p.Pro others(4): Show p.Pro2Thr	ALDOC	ENSG00000109107.14	transcript	ENST00000226253.9	protein_coding	2/9	111/1608	4/1095	2/364	chr17	TogoVar
ALG10B_chr12_38311774_38334721	38316992	G G	T T	missense_variant missense_variant	MODERATE	NA18955.hp1 NA19072.hp2 NA18955.hp1 NA19072.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0003 a0008c0012t0002g0003	2	452	0.0044	c.99G others(2): Show c.99G>T	p.Glu others(5): Show p.Glu33Asp	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	1/3	219/10050	99/1422	33/473	chr12	TogoVar
ALG10B_chr12_38311774_38334721	38318340	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(434): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 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.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.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 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0015 a0003c0005 a0004c0006 a0005c0008 a0006c0007 a0007c0009 a0008c0012 a0009c0011 a0010c0013 a0011c0014 a0012c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(87): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0016 a0001c0002t0017 a0001c0002t0023 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0003t0001 a0001c0003t0003 a0001c0003t0015 a0001c0003t0021 a0001c0003t0022 a0001c0003t0030 a0001c0003t0031 a0001c0003t0032 a0001c0003t0033 a0001c0003t0035 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0047 a0001c0003t0048 a0001c0003t0049 a0001c0003t0050 a0001c0003t0051 a0001c0003t0052 a0001c0003t0053 a0001c0010t0013 a0001c0015t0080 a0003c0005t0019 a0003c0005t0065 a0003c0005t0067 a0003c0005t0068 a0004c0006t0002 a0004c0006t0059 a0005c0008t0014 a0006c0007t0004 a0007c0009t0020 a0008c0012t0002 a0009c0011t0008 a0009c0011t0058 a0010c0013t0018 a0011c0014t0076 a0012c0016t0002	a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0005g0002 others(96): Show a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0005g0002 a0001c0001t0006g0006 a0001c0001t0006g0010 a0001c0001t0007g0001 a0001c0001t0009g0005 a0001c0001t0011g0001 a0001c0001t0012g0007 a0001c0001t0012g0014 a0001c0001t0013g0002 a0001c0001t0014g0012 a0001c0001t0018g0002 a0001c0001t0024g0002 a0001c0001t0025g0002 a0001c0001t0026g0001 a0001c0001t0027g0002 a0001c0001t0028g0002 a0001c0001t0029g0016 a0001c0001t0039g0001 a0001c0001t0040g0002 a0001c0001t0040g0021 a0001c0001t0041g0001 a0001c0001t0042g0001 a0001c0001t0060g0001 a0001c0001t0061g0002 a0001c0001t0062g0002 a0001c0001t0063g0002 a0001c0001t0064g0001 a0001c0001t0066g0002 a0001c0001t0069g0002 a0001c0001t0070g0002 a0001c0001t0071g0002 a0001c0001t0072g0002 a0001c0001t0073g0001 a0001c0001t0074g0001 a0001c0001t0075g0012 a0001c0001t0077g0002 a0001c0001t0078g0002 a0001c0001t0079g0012 a0001c0001t0081g0002 a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0005g0003 a0001c0002t0008g0003 a0001c0002t0008g0008 a0001c0002t0008g0023 a0001c0002t0010g0003 a0001c0002t0016g0003 a0001c0002t0017g0003 a0001c0002t0023g0003 a0001c0002t0036g0003 a0001c0002t0037g0017 a0001c0002t0038g0013 a0001c0002t0054g0003 a0001c0002t0055g0003 a0001c0002t0056g0003 a0001c0002t0057g0003 a0001c0003t0001g0001 a0001c0003t0003g0004 a0001c0003t0003g0019 a0001c0003t0015g0004 a0001c0003t0021g0004 a0001c0003t0022g0004 a0001c0003t0030g0004 a0001c0003t0031g0004 a0001c0003t0032g0004 a0001c0003t0033g0004 a0001c0003t0035g0004 a0001c0003t0043g0004 a0001c0003t0044g0004 a0001c0003t0045g0004 a0001c0003t0046g0004 a0001c0003t0047g0004 a0001c0003t0048g0018 a0001c0003t0049g0004 a0001c0003t0050g0004 a0001c0003t0051g0004 a0001c0003t0052g0004 a0001c0003t0053g0004 a0001c0010t0013g0002 a0001c0015t0080g0025 a0003c0005t0019g0001 a0003c0005t0019g0022 a0003c0005t0065g0015 a0003c0005t0067g0015 a0003c0005t0068g0001 a0004c0006t0002g0003 a0004c0006t0002g0024 a0004c0006t0059g0003 a0005c0008t0014g0009 a0006c0007t0004g0002 a0007c0009t0020g0011 a0008c0012t0002g0003 a0009c0011t0008g0008 a0009c0011t0058g0008 a0010c0013t0018g0002 a0011c0014t0076g0002 a0012c0016t0002g0003	437	452	0.9668	c.251 others(3): Show c.251C>G	p.Ala others(5): Show p.Ala84Gly	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	2/3	371/10050	251/1422	84/473	chr12	TogoVar
ALG10B_chr12_38311774_38334721	38318424	A A	G G	missense_variant missense_variant	MODERATE	HG02970.hp2 HG03041.hp1 HG03195.hp1 others(2): Show HG02970.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp1 NA18522.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0014 a0005c0008t0014	a0005c0008t0014g0009 a0005c0008t0014g0009	5	452	0.0111	c.335 others(3): Show c.335A>G	p.Tyr others(6): Show p.Tyr112Cys	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	2/3	455/10050	335/1422	112/473	chr12	TogoVar
ALG10B_chr12_38311774_38334721	38320357	A A	G G	missense_variant missense_variant	MODERATE	NA18944.hp1 NA18955.hp2 NA18975.hp2 others(3): Show NA18944.hp1 NA18955.hp2 NA18975.hp2 NA19012.hp1 NA19062.hp2 NA19080.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0059 a0004c0006t0002 a0004c0006t0059	a0004c0006t0002g0003 a0004c0006t0002g0024 a0004c0006t0059g0003 a0004c0006t0002g0003 a0004c0006t0002g0024 a0004c0006t0059g0003	6	452	0.0133	c.566 others(3): Show c.566A>G	p.Asn others(6): Show p.Asn189Ser	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	3/3	686/10050	566/1422	189/473	chr12	TogoVar
ALG10B_chr12_38311774_38334721	38320435	A A	G G	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00438.hp1 HG00408.hp2 HG00438.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0008 a0009c0011t0058 a0009c0011t0008 a0009c0011t0058	a0009c0011t0008g0008 a0009c0011t0058g0008 a0009c0011t0008g0008 a0009c0011t0058g0008	2	452	0.0044	c.644 others(3): Show c.644A>G	p.Lys others(6): Show p.Lys215Arg	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	3/3	764/10050	644/1422	215/473	chr12	TogoVar
ALG10B_chr12_38311774_38334721	38320440	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp2 HG01070.hp1 HG01168.hp2 others(2): Show HG00323.hp2 HG01070.hp1 HG01168.hp2 HG01169.hp1 HG01433.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0002 a0006c0007t0004g0002	5	452	0.0111	c.649 others(3): Show c.649G>A	p.Glu others(6): Show p.Glu217Lys	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	3/3	769/10050	649/1422	217/473	chr12	TogoVar
ALG10B_chr12_38311774_38334721	38320528	A A	C C	missense_variant missense_variant	MODERATE	HG02071.hp1 HG02071.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0002 a0012c0016t0002	a0012c0016t0002g0003 a0012c0016t0002g0003	1	452	0.0022	c.737 others(3): Show c.737A>C	p.Asn others(6): Show p.Asn246Thr	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	3/3	857/10050	737/1422	246/473	chr12	TogoVar
ALG10B_chr12_38311774_38334721	38320849	A A	G G	missense_variant missense_variant	MODERATE	NA20129.hp2 NA20129.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0076 a0011c0014t0076	a0011c0014t0076g0002 a0011c0014t0076g0002	1	452	0.0022	c.105 others(4): Show c.1058A>G	p.His others(6): Show p.His353Arg	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	3/3	1178/10050	1058/1422	353/473	chr12	TogoVar
ALG10B_chr12_38311774_38334721	38320901	A A	T T	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0018 a0010c0013t0018	a0010c0013t0018g0002 a0010c0013t0018g0002	1	452	0.0022	c.111 others(4): Show c.1110A>T	p.Lys others(6): Show p.Lys370Asn	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	3/3	1230/10050	1110/1422	370/473	chr12	TogoVar
ALG10B_chr12_38311774_38334721	38320939	G G	A A	missense_variant missense_variant	MODERATE	HG02922.hp1 HG03486.hp1 HG06807.hp2 others(1): Show HG02922.hp1 HG03486.hp1 HG06807.hp2 NA19240.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0020 a0007c0009t0020	a0007c0009t0020g0011 a0007c0009t0020g0011	4	452	0.0089	c.114 others(4): Show c.1148G>A	p.Ser others(6): Show p.Ser383Asn	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	3/3	1268/10050	1148/1422	383/473	chr12	TogoVar
ALG10B_chr12_38311774_38334721	38321127	A A	G G	missense_variant missense_variant	MODERATE	HG00741.hp2 HG02622.hp2 HG02698.hp1 others(4): Show HG00741.hp2 HG02622.hp2 HG02698.hp1 HG03017.hp1 HG03239.hp1 HG04115.hp2 HG04228.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0019 a0003c0005t0065 a0003c0005t0067 others(1): Show a0003c0005t0019 a0003c0005t0065 a0003c0005t0067 a0003c0005t0068	a0003c0005t0019g0001 a0003c0005t0019g0022 a0003c0005t0065g0015 others(2): Show a0003c0005t0019g0001 a0003c0005t0019g0022 a0003c0005t0065g0015 a0003c0005t0067g0015 a0003c0005t0068g0001	7	452	0.0155	c.133 others(4): Show c.1336A>G	p.Ile others(6): Show p.Ile446Val	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding	3/3	1456/10050	1336/1422	446/473	chr12	TogoVar
ALG10_chr12_34017496_34033302	34024017	T T	G G	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0003 a0004c0006t0002g0003	1	332	0.0030	c.227 others(3): Show c.227T>G	p.Ile others(5): Show p.Ile76Ser	ALG10	ENSG00000139133.7	transcript	ENST00000266483.7	protein_coding	2/3	331/2913	227/1422	76/473	chr12	TogoVar
ALG10_chr12_34017496_34033302	34026298	G G	A A	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02976.hp2 HG02572.hp2 HG02976.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0017 a0002c0005t0008g0017	2	332	0.0060	c.805 others(3): Show c.805G>A	p.Val others(6): Show p.Val269Ile	ALG10	ENSG00000139133.7	transcript	ENST00000266483.7	protein_coding	3/3	909/2913	805/1422	269/473	chr12	TogoVar
ALG10_chr12_34017496_34033302	34026740	G G	A A	missense_variant missense_variant	MODERATE	HG02300.hp1 HG02300.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0003 a0003c0007t0002g0003	1	332	0.0030	c.124 others(4): Show c.1247G>A	p.Arg others(6): Show p.Arg416His	ALG10	ENSG00000139133.7	transcript	ENST00000266483.7	protein_coding	3/3	1351/2913	1247/1422	416/473	chr12	TogoVar
ALG11_chr13_52007398_52038600	52024035	C C	T T	missense_variant missense_variant	MODERATE	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0008 a0003c0007t0008	a0003c0007t0008g0001 a0003c0007t0008g0001	1	362	0.0028	c.305 others(3): Show c.305C>T	p.Thr others(6): Show p.Thr102Ile	ALG11	ENSG00000253710.5	transcript	ENST00000521508.2	protein_coding	3/4	326/6510	305/1479	102/492	chr13	TogoVar
ALG11_chr13_52007398_52038600	52024053	A A	G G	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01255.hp2 HG01256.hp1 others(5): Show HG01109.hp1 HG01255.hp2 HG01256.hp1 HG01361.hp1 HG01433.hp1 HG01934.hp2 HG01952.hp1 HG02273.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0009 a0002c0003t0006g0076 a0002c0003t0006g0009 a0002c0003t0006g0076	8	362	0.0221	c.323 others(3): Show c.323A>G	p.Asn others(6): Show p.Asn108Ser	ALG11	ENSG00000253710.5	transcript	ENST00000521508.2	protein_coding	3/4	344/6510	323/1479	108/492	chr13	TogoVar
ALG11_chr13_52007398_52038600	52024136	C C	T T	missense_variant missense_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0002 a0004c0006t0001g0002	1	362	0.0028	c.406 others(3): Show c.406C>T	p.Arg others(6): Show p.Arg136Cys	ALG11	ENSG00000253710.5	transcript	ENST00000521508.2	protein_coding	3/4	427/6510	406/1479	136/492	chr13	TogoVar

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