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
ANG_chr14_20683764_20699183	20693935	T T	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.371 others(3): Show c.371T>A	p.Phe others(6): Show p.Phe124Tyr	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	500/748	371/444	124/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693936	C C	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.372 others(3): Show c.372C>A	p.Phe others(6): Show p.Phe124Leu	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	501/748	372/444	124/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693938	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.374 others(3): Show c.374G>A	p.Arg others(6): Show p.Arg125Lys	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	503/748	374/444	125/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693943	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.379 others(3): Show c.379G>A	p.Val others(6): Show p.Val127Ile	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	508/748	379/444	127/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693944	T T	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.380 others(3): Show c.380T>A	p.Val others(6): Show p.Val127Asp	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	509/748	380/444	127/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693946	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.382 others(3): Show c.382G>A	p.Val others(6): Show p.Val128Ile	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	511/748	382/444	128/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693947	T T	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.383 others(3): Show c.383T>A	p.Val others(6): Show p.Val128Asp	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	512/748	383/444	128/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693949	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.385 others(3): Show c.385G>A	p.Val others(6): Show p.Val129Ile	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	514/748	385/444	129/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693953	C C	G G	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.389 others(3): Show c.389C>G	p.Ala others(6): Show p.Ala130Gly	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	518/748	389/444	130/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693955	T T	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.391 others(3): Show c.391T>A	p.Cys others(6): Show p.Cys131Ser	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	520/748	391/444	131/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693956	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.392 others(3): Show c.392G>A	p.Cys others(6): Show p.Cys131Tyr	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	521/748	392/444	131/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693958	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.394 others(3): Show c.394G>A	p.Glu others(6): Show p.Glu132Lys	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	523/748	394/444	132/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693963	T T	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.399 others(3): Show c.399T>A	p.Asn others(6): Show p.Asn133Lys	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	528/748	399/444	133/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693964	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.400 others(3): Show c.400G>A	p.Gly others(6): Show p.Gly134Ser	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	529/748	400/444	134/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693965	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.401 others(3): Show c.401G>A	p.Gly others(6): Show p.Gly134Asp	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	530/748	401/444	134/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693967	T T	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.403 others(3): Show c.403T>A	p.Leu others(6): Show p.Leu135Ile	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	532/748	403/444	135/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693970	C C	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.406 others(3): Show c.406C>A	p.Pro others(6): Show p.Pro136Thr	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	535/748	406/444	136/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693971	C C	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.407 others(3): Show c.407C>A	p.Pro others(6): Show p.Pro136His	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	536/748	407/444	136/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693977	A A	T T	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0008 a0004c0005t0001g0008	1	472	0.0021	c.413 others(3): Show c.413A>T	p.His others(6): Show p.His138Leu	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	542/748	413/444	138/147	chr14	TogoVar
ANG_chr14_20683764_20699183	20693997	C C	T T	missense_variant missense_variant	MODERATE	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0003 a0002c0004t0001g0003	2	472	0.0042	c.433 others(3): Show c.433C>T	p.Arg others(6): Show p.Arg145Cys	ANG	ENSG00000214274.10	transcript	ENST00000397990.5	protein_coding	2/2	562/748	433/444	145/147	chr14	TogoVar
ANHX_chr12_133213312_133240877	133218949	G G	A A	missense_variant missense_variant	MODERATE	NA18995.hp1 NA18995.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0167 a0010c0013t0001g0167	1	442	0.0023	c.138 others(4): Show c.1388C>T	p.Ala others(6): Show p.Ala463Val	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	10/10	1481/2118	1388/1452	463/483	chr12	TogoVar
ANHX_chr12_133213312_133240877	133219299	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(246): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0009 others(1): Show a0001 a0007 a0009 a0010	a0001c0001 a0001c0006 a0001c0011 others(3): Show a0001c0001 a0001c0006 a0001c0011 a0007c0016 a0009c0012 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0006t0001 a0001c0006t0010 a0001c0011t0001 a0007c0016t0001 a0009c0012t0001 a0010c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(163): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0244 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0023 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0072 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0004g0004 a0001c0001t0004g0018 a0001c0001t0004g0020 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0290 a0001c0001t0004g0292 a0001c0001t0004g0297 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0308 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0332 a0001c0006t0001g0151 a0001c0006t0001g0171 a0001c0006t0001g0172 a0001c0006t0010g0166 a0001c0011t0001g0081 a0007c0016t0001g0109 a0009c0012t0001g0156 a0010c0013t0001g0167	249	442	0.5634	c.134 others(4): Show c.1349C>T	p.Ala others(6): Show p.Ala450Val	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	9/10	1442/2118	1349/1452	450/483	chr12	TogoVar
ANHX_chr12_133213312_133240877	133219300	C C	T T	missense_variant missense_variant	MODERATE	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0156 a0009c0012t0001g0156	1	442	0.0023	c.134 others(4): Show c.1348G>A	p.Ala others(6): Show p.Ala450Thr	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	9/10	1441/2118	1348/1452	450/483	chr12	TogoVar
ANHX_chr12_133213312_133240877	133219344	G G	A A	missense_variant missense_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0003 a0008c0014t0003	a0008c0014t0003g0314 a0008c0014t0003g0314	1	442	0.0023	c.130 others(4): Show c.1304C>T	p.Pro others(6): Show p.Pro435Leu	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	9/10	1397/2118	1304/1452	435/483	chr12	TogoVar
ANHX_chr12_133213312_133240877	133225713	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(46): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp2 HG01433.hp1 HG01516.hp1 HG02080.hp1 HG02155.hp1 HG02486.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG03098.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG06807.hp1 NA18939.hp2 NA18946.hp1 NA18959.hp2 NA18971.hp2 NA18975.hp1 NA18987.hp1 NA18992.hp2 NA19004.hp1 NA19010.hp2 NA19055.hp2 NA19074.hp2 NA19082.hp2 NA19084.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0007	a0003c0003 a0005c0005 a0005c0009 others(2): Show a0003c0003 a0005c0005 a0005c0009 a0006c0010 a0007c0016	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(5): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0007 a0005c0005t0001 a0005c0009t0001 a0006c0010t0001 a0007c0016t0001	a0003c0003t0001g0010 a0003c0003t0001g0027 a0003c0003t0001g0031 others(40): Show a0003c0003t0001g0010 a0003c0003t0001g0027 a0003c0003t0001g0031 a0003c0003t0001g0071 a0003c0003t0001g0108 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0209 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0270 a0003c0003t0002g0122 a0003c0003t0004g0302 a0003c0003t0004g0303 a0003c0003t0007g0032 a0003c0003t0007g0070 a0005c0005t0001g0047 a0005c0005t0001g0212 a0005c0005t0001g0213 a0005c0009t0001g0074 a0005c0009t0001g0135 a0006c0010t0001g0080 a0007c0016t0001g0109	49	442	0.1109	c.955 others(3): Show c.955A>G	p.Asn others(6): Show p.Asn319Asp	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	7/10	1048/2118	955/1452	319/483	chr12	TogoVar
ANHX_chr12_133213312_133240877	133226965	G G	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(40): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp2 HG01516.hp1 HG02080.hp1 HG02155.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG06807.hp1 NA18939.hp2 NA18946.hp1 NA18959.hp2 NA18971.hp2 NA18975.hp1 NA18987.hp1 NA18992.hp2 NA19004.hp1 NA19010.hp2 NA19055.hp2 NA19074.hp2 NA19082.hp2 NA19084.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0003 a0006c0010 a0007c0016 a0003c0003 a0006c0010 a0007c0016	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(3): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0007 a0006c0010t0001 a0007c0016t0001	a0003c0003t0001g0010 a0003c0003t0001g0027 a0003c0003t0001g0031 others(35): Show a0003c0003t0001g0010 a0003c0003t0001g0027 a0003c0003t0001g0031 a0003c0003t0001g0071 a0003c0003t0001g0108 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0209 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0270 a0003c0003t0002g0122 a0003c0003t0004g0302 a0003c0003t0004g0303 a0003c0003t0007g0032 a0003c0003t0007g0070 a0006c0010t0001g0080 a0007c0016t0001g0109	43	442	0.0973	c.689 others(3): Show c.689C>G	p.Ser others(6): Show p.Ser230Cys	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	5/10	782/2118	689/1452	230/483	chr12	TogoVar
ANHX_chr12_133213312_133240877	133227059	T T	C C	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01243.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0003 a0011c0015t0003	a0011c0015t0003g0324 a0011c0015t0003g0324	1	442	0.0023	c.595 others(3): Show c.595A>G	p.Met others(6): Show p.Met199Val	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	5/10	688/2118	595/1452	199/483	chr12	TogoVar
ANHX_chr12_133213312_133240877	133231553	G G	A A	missense_variant missense_variant	MODERATE	HG01106.hp2 HG02109.hp2 HG02280.hp1 others(5): Show HG01106.hp2 HG02109.hp2 HG02280.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0008 a0004c0004t0002 a0004c0004t0008	a0004c0004t0002g0065 a0004c0004t0002g0066 a0004c0004t0002g0067 others(3): Show a0004c0004t0002g0065 a0004c0004t0002g0066 a0004c0004t0002g0067 a0004c0004t0002g0198 a0004c0004t0002g0218 a0004c0004t0008g0008	8	442	0.0181	c.341 others(3): Show c.341C>T	p.Ala others(6): Show p.Ala114Val	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	3/10	434/2118	341/1452	114/483	chr12	TogoVar
ANHX_chr12_133213312_133240877	133234349	C C	T T	missense_variant missense_variant	MODERATE	HG01516.hp1 HG01516.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0080 a0006c0010t0001g0080	1	442	0.0023	c.8G> others(1): Show c.8G>A	p.Ser others(4): Show p.Ser3Asn	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	2/10	101/2118	8/1452	3/483	chr12	TogoVar
ANK1_chr8_41648225_41802622	41684589	G G	A A	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0012 a0012	a0012c0045 a0012c0045	a0012c0045t0025 a0012c0045t0025	a0012c0045t0025g0188 a0012c0045t0025g0188	1	278	0.0036	c.449 others(4): Show c.4492C>T	p.Arg others(7): Show p.Arg1498Trp	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	37/43	4576/8292	4492/5643	1498/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41686157	G G	A A	missense_variant missense_variant	MODERATE	HG01123.hp2 HG01123.hp2	a0013 a0013	a0013c0041 a0013c0041	a0013c0041t0012 a0013c0041t0012	a0013c0041t0012g0174 a0013c0041t0012g0174	1	278	0.0036	c.438 others(4): Show c.4385C>T	p.Ala others(7): Show p.Ala1462Val	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	36/43	4469/8292	4385/5643	1462/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41690485	T T	C C	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01167.hp1 HG01243.hp2 others(10): Show HG01106.hp2 HG01167.hp1 HG01243.hp2 HG01891.hp1 HG02258.hp1 HG02451.hp2 HG02723.hp1 HG02886.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp2 NA21309.hp1	a0002 a0014 a0002 a0014	a0002c0007 a0002c0039 a0002c0042 others(3): Show a0002c0007 a0002c0039 a0002c0042 a0002c0043 a0002c0057 a0014c0055	a0002c0007t0001 a0002c0007t0007 a0002c0007t0021 others(6): Show a0002c0007t0001 a0002c0007t0007 a0002c0007t0021 a0002c0007t0027 a0002c0039t0010 a0002c0042t0016 a0002c0043t0002 a0002c0057t0005 a0014c0055t0006	a0002c0007t0001g0038 a0002c0007t0001g0040 a0002c0007t0007g0021 others(10): Show a0002c0007t0001g0038 a0002c0007t0001g0040 a0002c0007t0007g0021 a0002c0007t0007g0023 a0002c0007t0007g0025 a0002c0007t0007g0028 a0002c0007t0021g0118 a0002c0007t0027g0035 a0002c0039t0010g0018 a0002c0042t0016g0045 a0002c0043t0002g0044 a0002c0057t0005g0269 a0014c0055t0006g0012	13	278	0.0468	c.397 others(4): Show c.3973A>G	p.Met others(7): Show p.Met1325Val	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	32/43	4057/8292	3973/5643	1325/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41692838	A A	G G	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00423.hp1	a0011 a0011	a0011c0036 a0011c0036	a0011c0036t0002 a0011c0036t0002	a0011c0036t0002g0076 a0011c0036t0002g0076	1	278	0.0036	c.366 others(4): Show c.3668T>C	p.Val others(7): Show p.Val1223Ala	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	31/43	3752/8292	3668/5643	1223/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41693954	G G	A A	missense_variant missense_variant	MODERATE	HG01928.hp1 HG01928.hp1	a0008 a0008	a0008c0050 a0008c0050	a0008c0050t0001 a0008c0050t0001	a0008c0050t0001g0153 a0008c0050t0001g0153	1	278	0.0036	c.347 others(4): Show c.3476C>T	p.Pro others(7): Show p.Pro1159Leu	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	29/43	3560/8292	3476/5643	1159/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41694695	G G	A A	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02572.hp2 HG02630.hp2 others(7): Show HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp1 HG03041.hp2 HG03195.hp2 HG03471.hp2 NA18522.hp2 NA19240.hp1	a0004 a0007 a0004 a0007	a0004c0011 a0004c0020 a0004c0044 others(1): Show a0004c0011 a0004c0020 a0004c0044 a0007c0033	a0004c0011t0001 a0004c0011t0002 a0004c0020t0001 others(2): Show a0004c0011t0001 a0004c0011t0002 a0004c0020t0001 a0004c0044t0004 a0007c0033t0001	a0004c0011t0001g0186 a0004c0011t0001g0187 a0004c0011t0002g0084 others(7): Show a0004c0011t0001g0186 a0004c0011t0001g0187 a0004c0011t0002g0084 a0004c0011t0002g0096 a0004c0011t0002g0097 a0004c0020t0001g0033 a0004c0020t0001g0034 a0004c0020t0001g0036 a0004c0044t0004g0041 a0007c0033t0001g0108	10	278	0.0360	c.322 others(4): Show c.3224C>T	p.Thr others(7): Show p.Thr1075Ile	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	28/43	3308/8292	3224/5643	1075/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41696493	C C	T T	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01106.hp2	a0014 a0014	a0014c0055 a0014c0055	a0014c0055t0006 a0014c0055t0006	a0014c0055t0006g0012 a0014c0055t0006g0012	1	278	0.0036	c.283 others(4): Show c.2830G>A	p.Ala others(6): Show p.Ala944Thr	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	26/43	2914/8292	2830/5643	944/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41699467	G G	A A	missense_variant missense_variant	MODERATE	HG01952.hp2 HG01952.hp2	a0010 a0010	a0010c0048 a0010c0048	a0010c0048t0001 a0010c0048t0001	a0010c0048t0001g0182 a0010c0048t0001g0182	1	278	0.0036	c.254 others(4): Show c.2543C>T	p.Pro others(6): Show p.Pro848Leu	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	23/43	2627/8292	2543/5643	848/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41699515	C C	T T	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02559.hp2 HG02895.hp1 others(1): Show HG02280.hp1 HG02559.hp2 HG02895.hp1 NA19240.hp2	a0005 a0007 a0005 a0007	a0005c0021 a0005c0035 a0007c0033 a0005c0021 a0005c0035 a0007c0033	a0005c0021t0002 a0005c0035t0001 a0007c0033t0001 a0005c0021t0002 a0005c0035t0001 a0007c0033t0001	a0005c0021t0002g0115 a0005c0021t0002g0133 a0005c0035t0001g0132 others(1): Show a0005c0021t0002g0115 a0005c0021t0002g0133 a0005c0035t0001g0132 a0007c0033t0001g0108	4	278	0.0144	c.249 others(4): Show c.2495G>A	p.Arg others(6): Show p.Arg832Gln	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	23/43	2579/8292	2495/5643	832/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41704438	T T	C C	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0009 a0009	a0009c0047 a0009c0047	a0009c0047t0002 a0009c0047t0002	a0009c0047t0002g0016 a0009c0047t0002g0016	1	278	0.0036	c.213 others(4): Show c.2132A>G	p.Tyr others(6): Show p.Tyr711Cys	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	19/43	2216/8292	2132/5643	711/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41708920	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp1 HG01928.hp1 HG02818.hp2 others(8): Show HG00639.hp1 HG01928.hp1 HG02818.hp2 HG02976.hp2 HG03195.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp2 NA18950.hp2 NA19010.hp1 NA19068.hp1	a0003 a0008 a0003 a0008	a0003c0014 a0003c0015 a0003c0024 others(2): Show a0003c0014 a0003c0015 a0003c0024 a0003c0049 a0008c0050	a0003c0014t0002 a0003c0014t0008 a0003c0015t0003 others(4): Show a0003c0014t0002 a0003c0014t0008 a0003c0015t0003 a0003c0024t0001 a0003c0024t0003 a0003c0049t0001 a0008c0050t0001	a0003c0014t0002g0209 a0003c0014t0008g0094 a0003c0014t0008g0095 others(8): Show a0003c0014t0002g0209 a0003c0014t0008g0094 a0003c0014t0008g0095 a0003c0014t0008g0203 a0003c0015t0003g0137 a0003c0015t0003g0220 a0003c0015t0003g0250 a0003c0024t0001g0273 a0003c0024t0003g0102 a0003c0049t0001g0104 a0008c0050t0001g0153	11	278	0.0396	c.185 others(4): Show c.1856G>A	p.Arg others(6): Show p.Arg619His	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	17/43	1940/8292	1856/5643	619/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41715771	T T	G G	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02895.hp1	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0001 a0007c0033t0001	a0007c0033t0001g0108 a0007c0033t0001g0108	1	278	0.0036	c.148 others(4): Show c.1483A>C	p.Asn others(6): Show p.Asn495His	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	14/43	1567/8292	1483/5643	495/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41719771	C C	T T	missense_variant missense_variant	MODERATE	HG01175.hp1 HG01175.hp1	a0016 a0016	a0016c0027 a0016c0027	a0016c0027t0002 a0016c0027t0002	a0016c0027t0002g0054 a0016c0027t0002g0054	1	278	0.0036	c.997 others(3): Show c.997G>A	p.Asp others(6): Show p.Asp333Asn	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	10/43	1081/8292	997/5643	333/1880	chr8	TogoVar
ANK1_chr8_41648225_41802622	41724473	C C	T T	missense_variant missense_variant	MODERATE	NA18986.hp1 NA18986.hp1	a0006 a0006	a0006c0031 a0006c0031	a0006c0031t0002 a0006c0031t0002	a0006c0031t0002g0255 a0006c0031t0002g0255	1	278	0.0036	c.694 others(3): Show c.694G>A	p.Val others(6): Show p.Val232Ile	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	7/43	778/8292	694/5643	232/1880	chr8	TogoVar
ANK2_chr4_113044653_113388736	113174461	C C	G G	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02280.hp1	a0021 a0021	a0021c0037 a0021c0037	a0021c0037t0001 a0021c0037t0001	a0021c0037t0001g0006 a0021c0037t0001g0006	1	178	0.0056	c.130 others(3): Show c.130C>G	p.Leu others(5): Show p.Leu44Val	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	2/46	206/14215	130/11874	44/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113255789	A A	G G	missense_variant missense_variant	MODERATE	HG02735.hp2 HG02735.hp2	a0007 a0007	a0007c0036 a0007c0036	a0007c0036t0009 a0007c0036t0009	a0007c0036t0009g0146 a0007c0036t0009g0146	1	178	0.0056	c.104 others(4): Show c.1045A>G	p.Lys others(6): Show p.Lys349Glu	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	11/46	1121/14215	1045/11874	349/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113348277	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00639.hp2 HG00639.hp2	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0001 a0020c0021t0001	a0020c0021t0001g0070 a0020c0021t0001g0070	1	178	0.0056	c.437 others(4): Show c.4373A>G	p.Glu others(7): Show p.Glu1458Gly	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	36/46	4449/14215	4373/11874	1458/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113353362	C C	T T	missense_variant missense_variant	MODERATE	HG03139.hp1 NA20129.hp2 HG03139.hp1 NA20129.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0011 a0006c0008t0001g0053 a0006c0008t0001g0011 a0006c0008t0001g0053	2	178	0.0112	c.474 others(4): Show c.4744C>T	p.Arg others(7): Show p.Arg1582Trp	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	4820/14215	4744/11874	1582/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113355144	A A	G G	missense_variant missense_variant	MODERATE	NA18964.hp2 NA18964.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0038 a0008c0019t0001g0038	1	178	0.0056	c.652 others(4): Show c.6526A>G	p.Thr others(7): Show p.Thr2176Ala	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	6602/14215	6526/11874	2176/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113355252	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02145.hp1 HG02559.hp2 others(2): Show HG01884.hp1 HG02145.hp1 HG02559.hp2 HG03130.hp2 HG03195.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0019 a0004c0005t0001g0068 a0004c0005t0001g0072 others(2): Show a0004c0005t0001g0019 a0004c0005t0001g0068 a0004c0005t0001g0072 a0004c0005t0001g0123 a0004c0005t0001g0164	5	178	0.0281	c.663 others(4): Show c.6634G>A	p.Gly others(7): Show p.Gly2212Ser	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	6710/14215	6634/11874	2212/3957	chr4	TogoVar
ANK2_chr4_113044653_113388736	113355259	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp1 HG00558.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0049 a0009c0018t0001g0049	1	178	0.0056	c.664 others(4): Show c.6641C>T	p.Pro others(7): Show p.Pro2214Leu	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	38/46	6717/14215	6641/11874	2214/3957	chr4	TogoVar

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