Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ARRDC1_chr9_137600686_137620360	137613646	C C	T T	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0002 a0001c0009t0001g0002	1	338	0.0030	c.312 others(3): Show c.312C>T	p.Phe others(6): Show p.Phe104Phe	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding	4/8	344/1556	312/1302	104/433	chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137614160	C C	T T	synonymous_variant synonymous_variant	LOW	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0001 a0001c0008t0001g0001	1	338	0.0030	c.564 others(3): Show c.564C>T	p.Asp others(6): Show p.Asp188Asp	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding	5/8	596/1556	564/1302	188/433	chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137614388	G G	A A	synonymous_variant synonymous_variant	LOW	NA18946.hp2 NA18946.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0053 a0005c0004t0002g0053	1	338	0.0030	c.708 others(3): Show c.708G>A	p.Ala others(6): Show p.Ala236Ala	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding	6/8	740/1556	708/1302	236/433	chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137614930	C C	T T	synonymous_variant synonymous_variant	LOW	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0009 a0001c0006t0001g0009	1	338	0.0030	c.116 others(4): Show c.1167C>T	p.Ser others(6): Show p.Ser389Ser	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding	7/8	1199/1556	1167/1302	389/433	chr9	TogoVar
ARRDC2_chr19_18003170_18019102	18008974	C C	T T	synonymous_variant synonymous_variant	LOW	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0005 a0003c0017t0005	a0003c0017t0005g0094 a0003c0017t0005g0094	1	414	0.0024	c.345 others(3): Show c.345C>T	p.Thr others(6): Show p.Thr115Thr	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding	3/8	486/2501	345/1224	115/407	chr19	TogoVar
ARRDC2_chr19_18003170_18019102	18008992	G G	A A	synonymous_variant synonymous_variant	LOW	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0002 a0001c0012t0001g0002	1	414	0.0024	c.363 others(3): Show c.363G>A	p.Glu others(6): Show p.Glu121Glu	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding	3/8	504/2501	363/1224	121/407	chr19	TogoVar
ARRDC2_chr19_18003170_18019102	18010198	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0013 a0001c0015t0001g0013	1	414	0.0024	c.852 others(3): Show c.852C>G	p.Val others(6): Show p.Val284Val	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding	6/8	993/2501	852/1224	284/407	chr19	TogoVar
ARRDC2_chr19_18003170_18019102	18010345	G G	A A	synonymous_variant synonymous_variant	LOW	HG00735.hp1 HG01109.hp2 HG01516.hp1 others(21): Show HG00735.hp1 HG01109.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02970.hp2 HG03139.hp1 HG03209.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0002 a0006 a0008 a0002 a0006 a0008	a0002c0003 a0006c0007 a0008c0010 a0002c0003 a0006c0007 a0008c0010	a0002c0003t0004 a0006c0007t0004 a0008c0010t0004 a0002c0003t0004 a0006c0007t0004 a0008c0010t0004	a0002c0003t0004g0008 a0002c0003t0004g0010 a0002c0003t0004g0014 others(5): Show a0002c0003t0004g0008 a0002c0003t0004g0010 a0002c0003t0004g0014 a0002c0003t0004g0061 a0002c0003t0004g0083 a0002c0003t0004g0084 a0006c0007t0004g0014 a0008c0010t0004g0010	24	414	0.0580	c.999 others(3): Show c.999G>A	p.Pro others(6): Show p.Pro333Pro	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding	6/8	1140/2501	999/1224	333/407	chr19	TogoVar
ARRDC2_chr19_18003170_18019102	18010609	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0006 a0001c0014t0001g0006	1	414	0.0024	c.105 others(4): Show c.1050G>A	p.Glu others(6): Show p.Glu350Glu	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding	7/8	1191/2501	1050/1224	350/407	chr19	TogoVar
ARRDC2_chr19_18003170_18019102	18010657	C C	T T	synonymous_variant synonymous_variant	LOW	HG00735.hp1 HG01109.hp2 HG01516.hp1 others(21): Show HG00735.hp1 HG01109.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02970.hp2 HG03139.hp1 HG03209.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0002 a0006 a0008 a0002 a0006 a0008	a0002c0003 a0006c0007 a0008c0010 a0002c0003 a0006c0007 a0008c0010	a0002c0003t0004 a0006c0007t0004 a0008c0010t0004 a0002c0003t0004 a0006c0007t0004 a0008c0010t0004	a0002c0003t0004g0008 a0002c0003t0004g0010 a0002c0003t0004g0014 others(5): Show a0002c0003t0004g0008 a0002c0003t0004g0010 a0002c0003t0004g0014 a0002c0003t0004g0061 a0002c0003t0004g0083 a0002c0003t0004g0084 a0006c0007t0004g0014 a0008c0010t0004g0010	24	414	0.0580	c.109 others(4): Show c.1098C>T	p.Asp others(6): Show p.Asp366Asp	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding	7/8	1239/2501	1098/1224	366/407	chr19	TogoVar
ARRDC2_chr19_18003170_18019102	18010705	C C	T T	synonymous_variant synonymous_variant	LOW	HG01123.hp1 HG02109.hp1 HG02257.hp1 others(5): Show HG01123.hp1 HG02109.hp1 HG02257.hp1 HG02486.hp2 HG02622.hp2 HG02965.hp2 HG03209.hp1 HG03540.hp1	a0003 a0010 a0003 a0010	a0003c0004 a0003c0017 a0010c0008 a0003c0004 a0003c0017 a0010c0008	a0003c0004t0005 a0003c0017t0005 a0010c0008t0005 a0003c0004t0005 a0003c0017t0005 a0010c0008t0005	a0003c0004t0005g0030 a0003c0004t0005g0031 a0003c0017t0005g0094 others(2): Show a0003c0004t0005g0030 a0003c0004t0005g0031 a0003c0017t0005g0094 a0010c0008t0005g0030 a0010c0008t0005g0093	8	414	0.0193	c.114 others(4): Show c.1146C>T	p.Tyr others(6): Show p.Tyr382Tyr	ARRDC2	ENSG00000105643.11	transcript	ENST00000222250.5	protein_coding	7/8	1287/2501	1146/1224	382/407	chr19	TogoVar
ARRDC3_chr5_91363631_91388317	91374958	G G	A A	synonymous_variant synonymous_variant	LOW	NA19004.hp1 NA19010.hp2 NA19011.hp2 others(1): Show NA19004.hp1 NA19010.hp2 NA19011.hp2 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0018 a0001c0003t0003g0018	4	402	0.0100	c.834 others(3): Show c.834C>T	p.Leu others(6): Show p.Leu278Leu	ARRDC3	ENSG00000113369.9	transcript	ENST00000265138.4	protein_coding	5/8	1059/4239	834/1245	278/414	chr5	TogoVar
ARRDC3_chr5_91363631_91388317	91376678	T T	C C	synonymous_variant synonymous_variant	LOW	HG02145.hp2 HG02280.hp2 HG02559.hp2 others(5): Show HG02145.hp2 HG02280.hp2 HG02559.hp2 HG02622.hp1 HG03579.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0012 a0001c0002t0005g0039 a0001c0002t0005g0083 a0001c0002t0005g0012 a0001c0002t0005g0039 a0001c0002t0005g0083	8	402	0.0199	c.453 others(3): Show c.453A>G	p.Lys others(6): Show p.Lys151Lys	ARRDC3	ENSG00000113369.9	transcript	ENST00000265138.4	protein_coding	3/8	678/4239	453/1245	151/414	chr5	TogoVar
ARRDC4_chr15_97955703_97978833	97960870	G G	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(325): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 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 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0018	a0001c0001 a0001c0004 a0001c0017 others(20): Show a0001c0001 a0001c0004 a0001c0017 a0002c0002 a0002c0005 a0002c0008 a0002c0009 a0002c0012 a0002c0020 a0002c0024 a0003c0018 a0004c0007 a0005c0010 a0005c0011 a0006c0013 a0008c0014 a0009c0019 a0010c0026 a0011c0023 a0012c0022 a0013c0021 a0014c0025 a0018c0016	a0001c0001t0001 a0001c0001t0030 a0001c0001t0041 others(55): Show a0001c0001t0001 a0001c0001t0030 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0004t0001 a0001c0017t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0010 a0002c0002t0011 a0002c0002t0013 a0002c0002t0019 a0002c0002t0023 a0002c0002t0024 a0002c0002t0031 a0002c0002t0033 a0002c0002t0034 a0002c0002t0044 a0002c0005t0002 a0002c0005t0003 a0002c0005t0008 a0002c0005t0012 a0002c0008t0014 a0002c0008t0016 a0002c0008t0025 a0002c0008t0026 a0002c0008t0029 a0002c0009t0017 a0002c0009t0027 a0002c0009t0028 a0002c0012t0022 a0002c0012t0046 a0002c0020t0004 a0002c0024t0005 a0003c0018t0005 a0004c0007t0004 a0004c0007t0007 a0005c0010t0018 a0005c0010t0020 a0005c0010t0032 a0005c0011t0015 a0006c0013t0001 a0008c0014t0001 a0009c0019t0004 a0010c0026t0012 a0011c0023t0001 a0012c0022t0001 a0013c0021t0023 a0014c0025t0011 a0018c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(121): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0030g0036 a0001c0001t0041g0001 a0001c0001t0043g0089 a0001c0001t0045g0001 a0001c0001t0047g0001 a0001c0001t0048g0096 a0001c0001t0049g0001 a0001c0004t0001g0001 a0001c0004t0001g0005 a0001c0004t0001g0021 a0001c0004t0001g0022 a0001c0004t0001g0049 a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0054 a0001c0017t0001g0001 a0002c0002t0001g0001 a0002c0002t0001g0013 a0002c0002t0001g0064 a0002c0002t0002g0002 a0002c0002t0002g0037 a0002c0002t0002g0120 a0002c0002t0003g0004 a0002c0002t0003g0027 a0002c0002t0003g0040 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0078 a0002c0002t0003g0097 a0002c0002t0003g0121 a0002c0002t0004g0003 a0002c0002t0004g0035 a0002c0002t0004g0041 a0002c0002t0004g0080 a0002c0002t0004g0081 a0002c0002t0004g0082 a0002c0002t0004g0099 a0002c0002t0005g0015 a0002c0002t0005g0058 a0002c0002t0005g0088 a0002c0002t0006g0087 a0002c0002t0010g0025 a0002c0002t0010g0031 a0002c0002t0010g0063 a0002c0002t0011g0017 a0002c0002t0011g0057 a0002c0002t0013g0029 a0002c0002t0019g0023 a0002c0002t0023g0068 a0002c0002t0024g0042 a0002c0002t0031g0023 a0002c0002t0033g0040 a0002c0002t0034g0027 a0002c0002t0044g0067 a0002c0005t0002g0016 a0002c0005t0002g0048 a0002c0005t0002g0053 a0002c0005t0003g0055 a0002c0005t0008g0011 a0002c0005t0008g0052 a0002c0005t0012g0056 a0002c0008t0014g0018 a0002c0008t0014g0073 a0002c0008t0016g0033 a0002c0008t0025g0037 a0002c0008t0026g0086 a0002c0008t0029g0026 a0002c0009t0017g0030 a0002c0009t0027g0062 a0002c0009t0028g0030 a0002c0012t0022g0124 a0002c0012t0022g0125 a0002c0012t0046g0101 a0002c0020t0004g0003 a0002c0024t0005g0015 a0003c0018t0005g0084 a0004c0007t0004g0041 a0004c0007t0007g0003 a0004c0007t0007g0061 a0005c0010t0018g0024 a0005c0010t0020g0060 a0005c0010t0032g0024 a0005c0011t0015g0028 a0006c0013t0001g0001 a0006c0013t0001g0103 a0008c0014t0001g0045 a0008c0014t0001g0070 a0009c0019t0004g0003 a0010c0026t0012g0016 a0011c0023t0001g0046 a0012c0022t0001g0001 a0013c0021t0023g0066 a0014c0025t0011g0017 a0018c0016t0001g0007	328	422	0.7773	c.9G> others(1): Show c.9G>C	p.Gly others(4): Show p.Gly3Gly	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding	1/8	168/4062	9/1257	3/418	chr15	TogoVar
ARRDC4_chr15_97955703_97978833	97960921	G G	C C	synonymous_variant synonymous_variant	LOW	HG01099.hp2 HG01106.hp2 HG02055.hp1 others(13): Show HG01099.hp2 HG01106.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02622.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 NA18906.hp1	a0002 a0005 a0002 a0005	a0002c0008 a0002c0009 a0005c0011 a0002c0008 a0002c0009 a0005c0011	a0002c0008t0014 a0002c0008t0016 a0002c0008t0025 others(6): Show a0002c0008t0014 a0002c0008t0016 a0002c0008t0025 a0002c0008t0026 a0002c0008t0029 a0002c0009t0017 a0002c0009t0027 a0002c0009t0028 a0005c0011t0015	a0002c0008t0014g0018 a0002c0008t0014g0073 a0002c0008t0016g0033 others(7): Show a0002c0008t0014g0018 a0002c0008t0014g0073 a0002c0008t0016g0033 a0002c0008t0025g0037 a0002c0008t0026g0086 a0002c0008t0029g0026 a0002c0009t0017g0030 a0002c0009t0027g0062 a0002c0009t0028g0030 a0005c0011t0015g0028	16	422	0.0379	c.60G others(2): Show c.60G>C	p.Leu others(5): Show p.Leu20Leu	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding	1/8	219/4062	60/1257	20/418	chr15	TogoVar
ARRDC4_chr15_97955703_97978833	97960999	G G	A A	synonymous_variant synonymous_variant	LOW	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0001 a0001c0017t0001g0001	1	422	0.0024	c.138 others(3): Show c.138G>A	p.Ala others(5): Show p.Ala46Ala	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding	1/8	297/4062	138/1257	46/418	chr15	TogoVar
ARRDC4_chr15_97955703_97978833	97961092	C C	T T	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00280.hp2 HG00544.hp2 others(41): Show HG00140.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01099.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02135.hp1 HG02165.hp2 HG02300.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG03017.hp2 HG03239.hp2 HG03688.hp2 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18945.hp2 NA18964.hp1 NA18980.hp1 NA18986.hp2 NA18992.hp2 NA18993.hp1 NA18999.hp2 NA19009.hp2 NA19070.hp1 NA19078.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0004 a0002c0005 a0010c0026 a0001c0004 a0002c0005 a0010c0026	a0001c0004t0001 a0002c0005t0002 a0002c0005t0003 others(3): Show a0001c0004t0001 a0002c0005t0002 a0002c0005t0003 a0002c0005t0008 a0002c0005t0012 a0010c0026t0012	a0001c0004t0001g0001 a0001c0004t0001g0005 a0001c0004t0001g0021 others(13): Show a0001c0004t0001g0001 a0001c0004t0001g0005 a0001c0004t0001g0021 a0001c0004t0001g0022 a0001c0004t0001g0049 a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0054 a0002c0005t0002g0016 a0002c0005t0002g0048 a0002c0005t0002g0053 a0002c0005t0003g0055 a0002c0005t0008g0011 a0002c0005t0008g0052 a0002c0005t0012g0056 a0010c0026t0012g0016	44	422	0.1043	c.231 others(3): Show c.231C>T	p.Ala others(5): Show p.Ala77Ala	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding	1/8	390/4062	231/1257	77/418	chr15	TogoVar
ARRDC4_chr15_97955703_97978833	97961152	G G	A A	synonymous_variant synonymous_variant	LOW	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0005 a0003c0018t0005	a0003c0018t0005g0084 a0003c0018t0005g0084	1	422	0.0024	c.291 others(3): Show c.291G>A	p.Leu others(5): Show p.Leu97Leu	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding	1/8	450/4062	291/1257	97/418	chr15	TogoVar
ARRDC4_chr15_97955703_97978833	97966012	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0004 a0002c0020t0004	a0002c0020t0004g0003 a0002c0020t0004g0003	1	422	0.0024	c.492 others(3): Show c.492T>C	p.Ser others(6): Show p.Ser164Ser	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding	3/8	651/4062	492/1257	164/418	chr15	TogoVar
ARRDC4_chr15_97955703_97978833	97969885	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0005 a0002c0024t0005	a0002c0024t0005g0015 a0002c0024t0005g0015	1	422	0.0024	c.885 others(3): Show c.885A>G	p.Val others(6): Show p.Val295Val	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding	6/8	1044/4062	885/1257	295/418	chr15	TogoVar
ARRDC4_chr15_97955703_97978833	97969909	A A	G G	synonymous_variant synonymous_variant	LOW	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0005 a0003c0030t0005	a0003c0030t0005g0008 a0003c0030t0005g0008	1	422	0.0024	c.909 others(3): Show c.909A>G	p.Lys others(6): Show p.Lys303Lys	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding	6/8	1068/4062	909/1257	303/418	chr15	TogoVar
ARRDC4_chr15_97955703_97978833	97969939	C C	T T	synonymous_variant synonymous_variant	LOW	HG00735.hp1 HG01109.hp1 HG01884.hp1 others(15): Show HG00735.hp1 HG01109.hp1 HG01884.hp1 HG02145.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1	a0002 a0003 a0002 a0003	a0002c0009 a0002c0012 a0003c0006 a0002c0009 a0002c0012 a0003c0006	a0002c0009t0017 a0002c0009t0027 a0002c0009t0028 others(5): Show a0002c0009t0017 a0002c0009t0027 a0002c0009t0028 a0002c0012t0022 a0002c0012t0046 a0003c0006t0009 a0003c0006t0021 a0003c0006t0042	a0002c0009t0017g0030 a0002c0009t0027g0062 a0002c0009t0028g0030 others(8): Show a0002c0009t0017g0030 a0002c0009t0027g0062 a0002c0009t0028g0030 a0002c0012t0022g0124 a0002c0012t0022g0125 a0002c0012t0046g0101 a0003c0006t0009g0010 a0003c0006t0009g0039 a0003c0006t0009g0072 a0003c0006t0021g0010 a0003c0006t0042g0115	18	422	0.0427	c.939 others(3): Show c.939C>T	p.Ile others(6): Show p.Ile313Ile	ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding	6/8	1098/4062	939/1257	313/418	chr15	TogoVar
ARRDC5_chr19_4885437_4907896	4891367	C C	A A	synonymous_variant synonymous_variant	LOW	HG02602.hp1 HG04199.hp1 HG02602.hp1 HG04199.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0023 a0003c0006t0001g0024 a0003c0006t0001g0023 a0003c0006t0001g0024	2	412	0.0049	c.666 others(3): Show c.666G>T	p.Thr others(6): Show p.Thr222Thr	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	3/3	737/1667	666/987	222/328	chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4891415	C C	T T	synonymous_variant synonymous_variant	LOW	HG03130.hp1 HG03209.hp1 HG03453.hp1 others(2): Show HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0027 others(2): Show a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0004t0001g0030	5	412	0.0121	c.618 others(3): Show c.618G>A	p.Lys others(6): Show p.Lys206Lys	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	3/3	689/1667	618/987	206/328	chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4891460	G G	A A	synonymous_variant synonymous_variant	LOW	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0316 a0001c0011t0001g0316	1	412	0.0024	c.573 others(3): Show c.573C>T	p.Val others(6): Show p.Val191Val	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	3/3	644/1667	573/987	191/328	chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4902742	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00280.hp2 HG00642.hp2 others(33): Show HG00140.hp2 HG00280.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02300.hp2 HG03017.hp1 HG03239.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0002t0002 a0001c0008t0002 a0001c0002t0001 a0001c0002t0002 a0001c0008t0002	a0001c0002t0001g0373 a0001c0002t0001g0391 a0001c0002t0001g0392 others(32): Show a0001c0002t0001g0373 a0001c0002t0001g0391 a0001c0002t0001g0392 a0001c0002t0001g0393 a0001c0002t0002g0015 a0001c0002t0002g0361 a0001c0002t0002g0362 a0001c0002t0002g0363 a0001c0002t0002g0364 a0001c0002t0002g0365 a0001c0002t0002g0366 a0001c0002t0002g0367 a0001c0002t0002g0368 a0001c0002t0002g0369 a0001c0002t0002g0370 a0001c0002t0002g0371 a0001c0002t0002g0372 a0001c0002t0002g0374 a0001c0002t0002g0375 a0001c0002t0002g0376 a0001c0002t0002g0377 a0001c0002t0002g0378 a0001c0002t0002g0379 a0001c0002t0002g0380 a0001c0002t0002g0381 a0001c0002t0002g0382 a0001c0002t0002g0383 a0001c0002t0002g0384 a0001c0002t0002g0385 a0001c0002t0002g0386 a0001c0002t0002g0387 a0001c0002t0002g0388 a0001c0002t0002g0389 a0001c0002t0002g0390 a0001c0008t0002g0016	36	412	0.0874	c.84C others(2): Show c.84C>T	p.Ile others(5): Show p.Ile28Ile	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	1/3	155/1667	84/987	28/328	chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4902808	C C	T T	synonymous_variant synonymous_variant	LOW	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0016 a0001c0008t0002g0016	1	412	0.0024	c.18G others(2): Show c.18G>A	p.Ser others(4): Show p.Ser6Ser	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	1/3	89/1667	18/987	6/328	chr19	TogoVar
ARSA_chr22_50617754_50633152	50625640	G G	A A	synonymous_variant synonymous_variant	LOW	HG01069.hp1 HG02055.hp1 HG02572.hp2 others(8): Show HG01069.hp1 HG02055.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG04115.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0028 a0002c0004t0029 a0002c0004t0008 a0002c0004t0028 a0002c0004t0029	a0002c0004t0008g0009 a0002c0004t0028g0042 a0002c0004t0029g0043 a0002c0004t0008g0009 a0002c0004t0028g0042 a0002c0004t0029g0043	11	460	0.0239	c.114 others(4): Show c.1149C>T	p.Asp others(6): Show p.Asp383Asp	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding	7/8	1522/4294	1149/1530	383/509	chr22	TogoVar
ARSA_chr22_50617754_50633152	50626041	G G	A A	synonymous_variant synonymous_variant	LOW	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0092 a0003c0016t0002g0092	1	460	0.0022	c.100 others(4): Show c.1002C>T	p.Ser others(6): Show p.Ser334Ser	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding	6/8	1375/4294	1002/1530	334/509	chr22	TogoVar
ARSA_chr22_50617754_50633152	50626894	A A	G G	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0057 a0002c0012t0001g0057	1	460	0.0022	c.624 others(3): Show c.624T>C	p.His others(6): Show p.His208His	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding	3/8	997/4294	624/1530	208/509	chr22	TogoVar
ARSA_chr22_50617754_50633152	50626960	G G	A A	synonymous_variant synonymous_variant	LOW	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0004 a0001c0018t0004	a0001c0018t0004g0053 a0001c0018t0004g0053	1	460	0.0022	c.558 others(3): Show c.558C>T	p.Asn others(6): Show p.Asn186Asn	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding	3/8	931/4294	558/1530	186/509	chr22	TogoVar
ARSA_chr22_50617754_50633152	50627172	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG02145.hp2 HG02630.hp2 others(4): Show HG00140.hp2 HG02145.hp2 HG02630.hp2 HG03225.hp2 NA18522.hp2 NA19240.hp2 NA21309.hp2	a0004 a0007 a0004 a0007	a0004c0005 a0007c0019 a0004c0005 a0007c0019	a0004c0005t0001 a0004c0005t0039 a0007c0019t0001 a0004c0005t0001 a0004c0005t0039 a0007c0019t0001	a0004c0005t0001g0018 a0004c0005t0039g0097 a0007c0019t0001g0098 a0004c0005t0001g0018 a0004c0005t0039g0097 a0007c0019t0001g0098	7	460	0.0152	c.459 others(3): Show c.459C>T	p.His others(6): Show p.His153His	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding	2/8	832/4294	459/1530	153/509	chr22	TogoVar
ARSA_chr22_50617754_50633152	50627388	G G	A A	synonymous_variant synonymous_variant	LOW	HG02257.hp2 HG02809.hp1 HG02818.hp1 others(2): Show HG02257.hp2 HG02809.hp1 HG02818.hp1 HG03516.hp2 NA18906.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0019 a0003c0007t0002g0019	5	460	0.0109	c.243 others(3): Show c.243C>T	p.Gly others(5): Show p.Gly81Gly	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding	2/8	616/4294	243/1530	81/509	chr22	TogoVar
ARSA_chr22_50617754_50633152	50627403	G G	A A	synonymous_variant synonymous_variant	LOW	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0002 a0003c0021t0002	a0003c0021t0002g0100 a0003c0021t0002g0100	1	460	0.0022	c.228 others(3): Show c.228C>T	p.Ala others(5): Show p.Ala76Ala	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding	2/8	601/4294	228/1530	76/509	chr22	TogoVar
ARSB_chr5_78772209_78990310	78780466	G G	A A	synonymous_variant synonymous_variant	LOW	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0027 a0001c0015t0027	a0001c0015t0027g0102 a0001c0015t0027g0102	1	360	0.0028	c.153 others(4): Show c.1533C>T	p.Pro others(6): Show p.Pro511Pro	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	8/8	1595/4852	1533/1602	511/533	chr5	TogoVar
ARSB_chr5_78772209_78990310	78780553	T T	C C	synonymous_variant synonymous_variant	LOW	HG02615.hp1 HG02717.hp2 HG02886.hp1 others(1): Show HG02615.hp1 HG02717.hp2 HG02886.hp1 HG03130.hp1	a0001 a0001	a0001c0008 a0001c0017 a0001c0019 a0001c0008 a0001c0017 a0001c0019	a0001c0008t0002 a0001c0008t0008 a0001c0017t0002 others(1): Show a0001c0008t0002 a0001c0008t0008 a0001c0017t0002 a0001c0019t0022	a0001c0008t0002g0120 a0001c0008t0008g0118 a0001c0017t0002g0088 others(1): Show a0001c0008t0002g0120 a0001c0008t0008g0118 a0001c0017t0002g0088 a0001c0019t0022g0233	4	360	0.0111	c.144 others(4): Show c.1446A>G	p.Glu others(6): Show p.Glu482Glu	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	8/8	1508/4852	1446/1602	482/533	chr5	TogoVar
ARSB_chr5_78772209_78990310	78780637	C C	T T	synonymous_variant synonymous_variant	LOW	HG01167.hp1 HG01496.hp1 HG01884.hp1 others(16): Show HG01167.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0007 a0001c0009 others(2): Show a0001c0005 a0001c0007 a0001c0009 a0001c0022 a0002c0013	a0001c0005t0013 a0001c0005t0017 a0001c0005t0032 others(12): Show a0001c0005t0013 a0001c0005t0017 a0001c0005t0032 a0001c0005t0035 a0001c0005t0036 a0001c0005t0074 a0001c0005t0075 a0001c0005t0076 a0001c0007t0004 a0001c0007t0036 a0001c0007t0068 a0001c0007t0077 a0001c0009t0016 a0001c0022t0006 a0002c0013t0017	a0001c0005t0013g0004 a0001c0005t0017g0003 a0001c0005t0017g0010 others(16): Show a0001c0005t0013g0004 a0001c0005t0017g0003 a0001c0005t0017g0010 a0001c0005t0017g0255 a0001c0005t0017g0353 a0001c0005t0032g0117 a0001c0005t0035g0165 a0001c0005t0036g0275 a0001c0005t0074g0073 a0001c0005t0075g0112 a0001c0005t0076g0268 a0001c0007t0004g0100 a0001c0007t0036g0259 a0001c0007t0068g0111 a0001c0007t0077g0070 a0001c0009t0016g0271 a0001c0009t0016g0272 a0001c0022t0006g0359 a0002c0013t0017g0015	19	360	0.0528	c.136 others(4): Show c.1362G>A	p.Pro others(6): Show p.Pro454Pro	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	8/8	1424/4852	1362/1602	454/533	chr5	TogoVar
ARSB_chr5_78772209_78990310	78781862	C C	T T	synonymous_variant synonymous_variant	LOW	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0053 a0002c0011t0053	a0002c0011t0053g0002 a0002c0011t0053g0002	1	360	0.0028	c.132 others(4): Show c.1326G>A	p.Thr others(6): Show p.Thr442Thr	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	7/8	1388/4852	1326/1602	442/533	chr5	TogoVar
ARSB_chr5_78772209_78990310	78839378	C C	T T	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG00544.hp2 HG00733.hp1 others(83): Show HG00323.hp2 HG00544.hp2 HG00733.hp1 HG01069.hp1 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03927.hp1 HG04115.hp1 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18962.hp1 NA18988.hp1 NA19000.hp2 NA19010.hp1 NA19043.hp2 NA19063.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0003 a0001c0005 a0001c0008 others(6): Show a0001c0003 a0001c0005 a0001c0008 a0001c0015 a0001c0021 a0001c0022 a0003c0014 a0005c0016 a0007c0012	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(44): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0012 a0001c0003t0014 a0001c0003t0015 a0001c0003t0016 a0001c0003t0018 a0001c0003t0022 a0001c0003t0025 a0001c0003t0027 a0001c0003t0028 a0001c0003t0031 a0001c0003t0034 a0001c0003t0035 a0001c0003t0041 a0001c0003t0046 a0001c0003t0048 a0001c0003t0056 a0001c0003t0058 a0001c0003t0060 a0001c0003t0061 a0001c0003t0069 a0001c0003t0070 a0001c0003t0073 a0001c0005t0013 a0001c0005t0017 a0001c0005t0032 a0001c0005t0035 a0001c0005t0036 a0001c0005t0074 a0001c0005t0075 a0001c0005t0076 a0001c0008t0002 a0001c0008t0008 a0001c0015t0027 a0001c0021t0003 a0001c0022t0006 a0003c0014t0015 a0005c0016t0002 a0007c0012t0032	a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 others(83): Show a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0326 a0001c0003t0001g0344 a0001c0003t0002g0013 a0001c0003t0002g0074 a0001c0003t0002g0078 a0001c0003t0002g0082 a0001c0003t0002g0101 a0001c0003t0002g0160 a0001c0003t0002g0253 a0001c0003t0002g0262 a0001c0003t0002g0269 a0001c0003t0002g0270 a0001c0003t0002g0276 a0001c0003t0002g0320 a0001c0003t0002g0338 a0001c0003t0002g0342 a0001c0003t0002g0349 a0001c0003t0002g0351 a0001c0003t0002g0354 a0001c0003t0003g0050 a0001c0003t0003g0334 a0001c0003t0005g0060 a0001c0003t0006g0103 a0001c0003t0006g0156 a0001c0003t0006g0212 a0001c0003t0006g0254 a0001c0003t0006g0267 a0001c0003t0006g0274 a0001c0003t0007g0011 a0001c0003t0007g0012 a0001c0003t0007g0132 a0001c0003t0007g0352 a0001c0003t0008g0116 a0001c0003t0009g0281 a0001c0003t0010g0157 a0001c0003t0012g0089 a0001c0003t0012g0166 a0001c0003t0012g0177 a0001c0003t0012g0232 a0001c0003t0012g0350 a0001c0003t0014g0220 a0001c0003t0015g0346 a0001c0003t0016g0258 a0001c0003t0018g0057 a0001c0003t0018g0260 a0001c0003t0022g0178 a0001c0003t0022g0229 a0001c0003t0025g0341 a0001c0003t0027g0114 a0001c0003t0028g0051 a0001c0003t0028g0348 a0001c0003t0031g0119 a0001c0003t0034g0071 a0001c0003t0035g0357 a0001c0003t0041g0155 a0001c0003t0046g0343 a0001c0003t0048g0266 a0001c0003t0056g0022 a0001c0003t0058g0045 a0001c0003t0060g0210 a0001c0003t0061g0252 a0001c0003t0069g0273 a0001c0003t0070g0251 a0001c0003t0073g0099 a0001c0005t0013g0004 a0001c0005t0017g0003 a0001c0005t0017g0010 a0001c0005t0017g0255 a0001c0005t0017g0353 a0001c0005t0032g0117 a0001c0005t0035g0165 a0001c0005t0036g0275 a0001c0005t0074g0073 a0001c0005t0075g0112 a0001c0005t0076g0268 a0001c0008t0002g0120 a0001c0008t0008g0118 a0001c0015t0027g0102 a0001c0021t0003g0358 a0001c0022t0006g0359 a0003c0014t0015g0202 a0005c0016t0002g0237 a0007c0012t0032g0180	86	360	0.2389	c.119 others(4): Show c.1191G>A	p.Pro others(6): Show p.Pro397Pro	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/8	1253/4852	1191/1602	397/533	chr5	TogoVar
ARSB_chr5_78772209_78990310	78885658	T T	A A	synonymous_variant synonymous_variant	LOW	HG01884.hp2 HG01891.hp2 HG03130.hp1 others(1): Show HG01884.hp2 HG01891.hp2 HG03130.hp1 NA19240.hp1	a0001 a0001	a0001c0009 a0001c0018 a0001c0019 a0001c0009 a0001c0018 a0001c0019	a0001c0009t0016 a0001c0018t0002 a0001c0019t0022 a0001c0009t0016 a0001c0018t0002 a0001c0019t0022	a0001c0009t0016g0271 a0001c0009t0016g0272 a0001c0018t0002g0016 others(1): Show a0001c0009t0016g0271 a0001c0009t0016g0272 a0001c0018t0002g0016 a0001c0019t0022g0233	4	360	0.0111	c.106 others(4): Show c.1068A>T	p.Thr others(6): Show p.Thr356Thr	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/8	1130/4852	1068/1602	356/533	chr5	TogoVar
ARSB_chr5_78772209_78990310	78885754	T T	C C	synonymous_variant synonymous_variant	LOW	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0161 a0002c0010t0003g0322 a0002c0010t0003g0161 a0002c0010t0003g0322	2	360	0.0056	c.972 others(3): Show c.972A>G	p.Gly others(6): Show p.Gly324Gly	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/8	1034/4852	972/1602	324/533	chr5	TogoVar
ARSB_chr5_78772209_78990310	78985045	G G	T T	synonymous_variant synonymous_variant	LOW	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0053 a0002c0011t0053	a0002c0011t0053g0002 a0002c0011t0053g0002	1	360	0.0028	c.204 others(3): Show c.204C>A	p.Arg others(5): Show p.Arg68Arg	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/8	266/4852	204/1602	68/533	chr5	TogoVar
ARSB_chr5_78772209_78990310	78985161	G G	A A	synonymous_variant synonymous_variant	LOW	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0003 a0001c0021t0003	a0001c0021t0003g0358 a0001c0021t0003g0358	1	360	0.0028	c.88C others(2): Show c.88C>T	p.Leu others(5): Show p.Leu30Leu	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/8	150/4852	88/1602	30/533	chr5	TogoVar
ARSB_chr5_78772209_78990310	78985167	G G	A A	synonymous_variant synonymous_variant	LOW	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0006 a0001c0022t0006	a0001c0022t0006g0359 a0001c0022t0006g0359	1	360	0.0028	c.82C others(2): Show c.82C>T	p.Leu others(5): Show p.Leu28Leu	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/8	144/4852	82/1602	28/533	chr5	TogoVar
ARSD_chrX_2898972_2934339	2907322	G G	A A	synonymous_variant synonymous_variant	LOW	HG01070.hp2 HG01071.hp2 HG02280.hp1 others(2): Show HG01070.hp2 HG01071.hp2 HG02280.hp1 HG02965.hp1 HG03471.hp1	a0005 a0008 a0005 a0008	a0005c0008 a0005c0020 a0008c0021 a0005c0008 a0005c0020 a0008c0021	a0005c0008t0018 a0005c0008t0027 a0005c0020t0026 others(1): Show a0005c0008t0018 a0005c0008t0027 a0005c0020t0026 a0008c0021t0028	a0005c0008t0018g0006 a0005c0008t0027g0027 a0005c0020t0026g0210 others(1): Show a0005c0008t0018g0006 a0005c0008t0027g0027 a0005c0020t0026g0210 a0008c0021t0028g0112	5	344	0.0145	c.173 others(4): Show c.1731C>T	p.Cys others(6): Show p.Cys577Cys	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	10/10	1795/5145	1731/1782	577/593	chrX	TogoVar
ARSD_chrX_2898972_2934339	2907463	G G	A A	synonymous_variant synonymous_variant	LOW	NA18954.hp2 NA18980.hp2 NA19006.hp1 others(1): Show NA18954.hp2 NA18980.hp2 NA19006.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0016 a0001c0009 a0002c0016	a0001c0009t0009 a0002c0016t0009 a0001c0009t0009 a0002c0016t0009	a0001c0009t0009g0232 a0001c0009t0009g0233 a0001c0009t0009g0263 others(1): Show a0001c0009t0009g0232 a0001c0009t0009g0233 a0001c0009t0009g0263 a0002c0016t0009g0244	4	344	0.0116	c.159 others(4): Show c.1590C>T	p.Thr others(6): Show p.Thr530Thr	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	10/10	1654/5145	1590/1782	530/593	chrX	TogoVar
ARSD_chrX_2898972_2934339	2907577	C C	G G	synonymous_variant synonymous_variant	LOW	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0038 a0003c0018t0038	a0003c0018t0038g0206 a0003c0018t0038g0206	1	344	0.0029	c.147 others(4): Show c.1476G>C	p.Ala others(6): Show p.Ala492Ala	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	10/10	1540/5145	1476/1782	492/593	chrX	TogoVar
ARSD_chrX_2898972_2934339	2907586	G G	A A	synonymous_variant synonymous_variant	LOW	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0038 a0003c0018t0038	a0003c0018t0038g0206 a0003c0018t0038g0206	1	344	0.0029	c.146 others(4): Show c.1467C>T	p.Pro others(6): Show p.Pro489Pro	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	10/10	1531/5145	1467/1782	489/593	chrX	TogoVar
ARSD_chrX_2898972_2934339	2909936	G G	A A	synonymous_variant synonymous_variant	LOW	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0011 a0003c0019t0011	a0003c0019t0011g0300 a0003c0019t0011g0300	1	344	0.0029	c.117 others(4): Show c.1179C>T	p.Pro others(6): Show p.Pro393Pro	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	8/10	1243/5145	1179/1782	393/593	chrX	TogoVar
ARSD_chrX_2898972_2934339	2910759	T T	C C	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG02622.hp1 HG03139.hp1 others(7): Show HG01109.hp1 HG02622.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 NA18906.hp2 NA19030.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0010 a0001c0006 a0002c0010	a0001c0006t0008 a0001c0006t0024 a0001c0006t0041 others(1): Show a0001c0006t0008 a0001c0006t0024 a0001c0006t0041 a0002c0010t0008	a0001c0006t0008g0091 a0001c0006t0008g0092 a0001c0006t0008g0093 others(7): Show a0001c0006t0008g0091 a0001c0006t0008g0092 a0001c0006t0008g0093 a0001c0006t0008g0225 a0001c0006t0008g0226 a0001c0006t0024g0219 a0001c0006t0024g0228 a0001c0006t0041g0229 a0002c0010t0008g0028 a0002c0010t0008g0029	10	344	0.0291	c.103 others(4): Show c.1035A>G	p.Leu others(6): Show p.Leu345Leu	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	7/10	1099/5145	1035/1782	345/593	chrX	TogoVar

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