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
ADCY10_chr1_167804386_167919134	167824777	T T	C C	missense_variant missense_variant	MODERATE	NA18982.hp2 NA18982.hp2	a0018 a0018	a0018c0043 a0018c0043	a0018c0043t0002 a0018c0043t0002	a0018c0043t0002g0120 a0018c0043t0002g0120	1	326	0.0031	c.382 others(4): Show c.3829A>G	p.Met others(7): Show p.Met1277Val	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	27/33	4046/5342	3829/4833	1277/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167833038	T T	C C	missense_variant missense_variant	MODERATE	HG02895.hp2 HG03195.hp1 HG02895.hp2 HG03195.hp1	a0015 a0022 a0015 a0022	a0015c0034 a0022c0039 a0015c0034 a0022c0039	a0015c0034t0002 a0022c0039t0002 a0015c0034t0002 a0022c0039t0002	a0015c0034t0002g0202 a0022c0039t0002g0210 a0015c0034t0002g0202 a0022c0039t0002g0210	2	326	0.0061	c.354 others(4): Show c.3542A>G	p.Asn others(7): Show p.Asn1181Ser	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	25/33	3759/5342	3542/4833	1181/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167833090	T T	C C	missense_variant missense_variant	MODERATE	NA19083.hp2 NA19083.hp2	a0023 a0023	a0023c0029 a0023c0029	a0023c0029t0002 a0023c0029t0002	a0023c0029t0002g0145 a0023c0029t0002g0145	1	326	0.0031	c.349 others(4): Show c.3490A>G	p.Ile others(7): Show p.Ile1164Val	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	25/33	3707/5342	3490/4833	1164/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167833092	C C	A A	missense_variant missense_variant	MODERATE	HG04199.hp2 HG04228.hp2 HG04199.hp2 HG04228.hp2	a0012 a0020 a0012 a0020	a0012c0032 a0020c0028 a0012c0032 a0020c0028	a0012c0032t0003 a0020c0028t0003 a0012c0032t0003 a0020c0028t0003	a0012c0032t0003g0171 a0020c0028t0003g0177 a0012c0032t0003g0171 a0020c0028t0003g0177	2	326	0.0061	c.348 others(4): Show c.3488G>T	p.Arg others(7): Show p.Arg1163Leu	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	25/33	3705/5342	3488/4833	1163/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167834019	G G	T T	missense_variant missense_variant	MODERATE	NA19078.hp1 NA19078.hp1	a0024 a0024	a0024c0027 a0024c0027	a0024c0027t0001 a0024c0027t0001	a0024c0027t0001g0044 a0024c0027t0001g0044	1	326	0.0031	c.336 others(4): Show c.3368C>A	p.Ser others(7): Show p.Ser1123Tyr	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	24/33	3585/5342	3368/4833	1123/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167834020	A A	G G	missense_variant missense_variant	MODERATE	NA19078.hp1 NA19078.hp1	a0024 a0024	a0024c0027 a0024c0027	a0024c0027t0001 a0024c0027t0001	a0024c0027t0001g0044 a0024c0027t0001g0044	1	326	0.0031	c.336 others(4): Show c.3367T>C	p.Ser others(7): Show p.Ser1123Pro	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	24/33	3584/5342	3367/4833	1123/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167834021	T T	A A	missense_variant missense_variant	MODERATE	NA19078.hp1 NA19078.hp1	a0024 a0024	a0024c0027 a0024c0027	a0024c0027t0001 a0024c0027t0001	a0024c0027t0001g0044 a0024c0027t0001g0044	1	326	0.0031	c.336 others(4): Show c.3366A>T	p.Lys others(7): Show p.Lys1122Asn	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	24/33	3583/5342	3366/4833	1122/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167834065	A A	T T	missense_variant missense_variant	MODERATE	NA19078.hp1 NA19078.hp1	a0024 a0024	a0024c0027 a0024c0027	a0024c0027t0001 a0024c0027t0001	a0024c0027t0001g0044 a0024c0027t0001g0044	1	326	0.0031	c.332 others(4): Show c.3322T>A	p.Leu others(7): Show p.Leu1108Met	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	24/33	3539/5342	3322/4833	1108/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167836375	A A	T T	missense_variant missense_variant	MODERATE	HG04184.hp1 HG04184.hp1	a0019 a0019	a0019c0040 a0019c0040	a0019c0040t0003 a0019c0040t0003	a0019c0040t0003g0235 a0019c0040t0003g0235	1	326	0.0031	c.324 others(4): Show c.3243T>A	p.Asn others(7): Show p.Asn1081Lys	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	23/33	3460/5342	3243/4833	1081/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167836494	A A	T T	missense_variant missense_variant	MODERATE	NA19086.hp2 NA19086.hp2	a0016 a0016	a0016c0035 a0016c0035	a0016c0035t0001 a0016c0035t0001	a0016c0035t0001g0049 a0016c0035t0001g0049	1	326	0.0031	c.312 others(4): Show c.3124T>A	p.Leu others(7): Show p.Leu1042Ile	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	23/33	3341/5342	3124/4833	1042/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167836497	C C	T T	missense_variant missense_variant	MODERATE	NA19086.hp2 NA19086.hp2	a0016 a0016	a0016c0035 a0016c0035	a0016c0035t0001 a0016c0035t0001	a0016c0035t0001g0049 a0016c0035t0001g0049	1	326	0.0031	c.312 others(4): Show c.3121G>A	p.Val others(7): Show p.Val1041Ile	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	23/33	3338/5342	3121/4833	1041/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167836503	C C	A A	missense_variant missense_variant	MODERATE	NA19086.hp2 NA19086.hp2	a0016 a0016	a0016c0035 a0016c0035	a0016c0035t0001 a0016c0035t0001	a0016c0035t0001g0049 a0016c0035t0001g0049	1	326	0.0031	c.311 others(4): Show c.3115G>T	p.Asp others(7): Show p.Asp1039Tyr	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	23/33	3332/5342	3115/4833	1039/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167845675	G G	T T	missense_variant missense_variant	MODERATE	HG01175.hp1 HG01175.hp1	a0007 a0007	a0007c0055 a0007c0055	a0007c0055t0002 a0007c0055t0002	a0007c0055t0002g0305 a0007c0055t0002g0305	1	326	0.0031	c.289 others(4): Show c.2895C>A	p.Asp others(6): Show p.Asp965Glu	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	21/33	3112/5342	2895/4833	965/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167848400	C C	T T	missense_variant missense_variant	MODERATE	NA18982.hp2 NA18982.hp2	a0018 a0018	a0018c0043 a0018c0043	a0018c0043t0002 a0018c0043t0002	a0018c0043t0002g0120 a0018c0043t0002g0120	1	326	0.0031	c.239 others(4): Show c.2398G>A	p.Val others(6): Show p.Val800Ile	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	19/33	2615/5342	2398/4833	800/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167856211	T T	C C	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00735.hp1	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0001 a0017c0036t0001	a0017c0036t0001g0175 a0017c0036t0001g0175	1	326	0.0031	c.212 others(4): Show c.2125A>G	p.Ile others(6): Show p.Ile709Val	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	17/33	2342/5342	2125/4833	709/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167856247	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(181): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0004 a0005 others(10): Show a0001 a0004 a0005 a0006 a0010 a0011 a0018 a0019 a0020 a0021 a0022 a0023 a0024	a0001c0002 a0001c0003 a0001c0004 others(30): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0018 a0001c0024 a0001c0037 a0001c0038 a0001c0044 a0001c0048 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0004c0011 a0004c0021 a0004c0058 a0005c0013 a0006c0059 a0010c0026 a0011c0042 a0018c0043 a0019c0040 a0020c0028 a0021c0049 a0022c0039 a0023c0029 a0024c0027	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(45): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0010t0001 a0001c0010t0002 a0001c0010t0003 a0001c0012t0001 a0001c0012t0002 a0001c0014t0001 a0001c0014t0002 a0001c0014t0003 a0001c0015t0001 a0001c0015t0003 a0001c0016t0002 a0001c0018t0001 a0001c0018t0003 a0001c0024t0003 a0001c0037t0002 a0001c0038t0001 a0001c0044t0001 a0001c0048t0001 a0001c0050t0001 a0001c0051t0001 a0001c0052t0001 a0001c0053t0001 a0004c0011t0002 a0004c0011t0003 a0004c0021t0002 a0004c0058t0002 a0005c0013t0001 a0006c0059t0001 a0010c0026t0003 a0011c0042t0002 a0018c0043t0002 a0019c0040t0003 a0020c0028t0003 a0021c0049t0002 a0022c0039t0002 a0023c0029t0002 a0024c0027t0001	a0001c0002t0001g0025 a0001c0002t0001g0054 a0001c0002t0001g0055 others(179): Show a0001c0002t0001g0025 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0088 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0133 a0001c0002t0001g0144 a0001c0002t0001g0196 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0002g0261 a0001c0003t0001g0031 a0001c0003t0001g0058 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0087 a0001c0003t0001g0106 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0143 a0001c0003t0001g0152 a0001c0003t0001g0154 a0001c0003t0001g0156 a0001c0003t0001g0172 a0001c0003t0001g0176 a0001c0003t0001g0179 a0001c0003t0001g0181 a0001c0003t0001g0185 a0001c0003t0001g0188 a0001c0003t0001g0191 a0001c0003t0001g0277 a0001c0003t0002g0089 a0001c0003t0002g0090 a0001c0003t0002g0099 a0001c0003t0002g0128 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0178 a0001c0003t0002g0184 a0001c0003t0002g0189 a0001c0004t0001g0006 a0001c0004t0001g0010 a0001c0004t0001g0014 a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0063 a0001c0004t0001g0114 a0001c0004t0001g0118 a0001c0004t0001g0187 a0001c0004t0001g0201 a0001c0004t0002g0003 a0001c0004t0002g0005 a0001c0004t0002g0007 a0001c0004t0002g0008 a0001c0004t0002g0009 a0001c0004t0002g0013 a0001c0004t0002g0050 a0001c0004t0002g0071 a0001c0004t0002g0204 a0001c0004t0002g0205 a0001c0004t0002g0208 a0001c0004t0002g0286 a0001c0004t0003g0001 a0001c0004t0003g0263 a0001c0004t0003g0274 a0001c0004t0003g0294 a0001c0005t0001g0219 a0001c0005t0001g0220 a0001c0005t0001g0222 a0001c0005t0001g0224 a0001c0005t0001g0256 a0001c0005t0001g0316 a0001c0005t0001g0317 a0001c0005t0002g0002 a0001c0005t0002g0230 a0001c0005t0002g0232 a0001c0005t0002g0237 a0001c0005t0002g0240 a0001c0005t0002g0241 a0001c0005t0002g0244 a0001c0005t0002g0246 a0001c0005t0002g0247 a0001c0005t0002g0248 a0001c0005t0002g0249 a0001c0005t0002g0254 a0001c0005t0002g0318 a0001c0005t0003g0214 a0001c0005t0003g0233 a0001c0005t0004g0245 a0001c0010t0001g0221 a0001c0010t0001g0234 a0001c0010t0001g0236 a0001c0010t0001g0243 a0001c0010t0001g0250 a0001c0010t0001g0251 a0001c0010t0001g0255 a0001c0010t0002g0239 a0001c0010t0003g0108 a0001c0012t0001g0043 a0001c0012t0001g0045 a0001c0012t0001g0046 a0001c0012t0001g0048 a0001c0012t0002g0150 a0001c0012t0002g0158 a0001c0014t0001g0083 a0001c0014t0001g0103 a0001c0014t0001g0109 a0001c0014t0002g0198 a0001c0014t0003g0153 a0001c0015t0001g0026 a0001c0015t0001g0126 a0001c0015t0001g0215 a0001c0015t0003g0252 a0001c0016t0002g0146 a0001c0016t0002g0147 a0001c0016t0002g0157 a0001c0018t0001g0203 a0001c0018t0003g0151 a0001c0024t0003g0149 a0001c0037t0002g0200 a0001c0038t0001g0292 a0001c0044t0001g0190 a0001c0048t0001g0053 a0001c0050t0001g0065 a0001c0051t0001g0052 a0001c0052t0001g0086 a0001c0053t0001g0275 a0004c0011t0002g0018 a0004c0011t0002g0023 a0004c0011t0002g0296 a0004c0011t0003g0017 a0004c0011t0003g0019 a0004c0011t0003g0021 a0004c0011t0003g0302 a0004c0021t0002g0306 a0004c0021t0002g0310 a0004c0058t0002g0020 a0005c0013t0001g0216 a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0225 a0005c0013t0001g0242 a0006c0059t0001g0119 a0010c0026t0003g0207 a0011c0042t0002g0056 a0018c0043t0002g0120 a0019c0040t0003g0235 a0020c0028t0003g0177 a0021c0049t0002g0064 a0022c0039t0002g0210 a0023c0029t0002g0145 a0024c0027t0001g0044	184	326	0.5644	c.208 others(4): Show c.2089A>G	p.Ile others(6): Show p.Ile697Val	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	17/33	2306/5342	2089/4833	697/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167860989	A A	G G	missense_variant missense_variant	MODERATE	HG03471.hp2 HG03471.hp2	a0011 a0011	a0011c0042 a0011c0042	a0011c0042t0002 a0011c0042t0002	a0011c0042t0002g0056 a0011c0042t0002g0056	1	326	0.0031	c.169 others(4): Show c.1691T>C	p.Val others(6): Show p.Val564Ala	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	15/33	1908/5342	1691/4833	564/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167878458	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02486.hp1 HG02257.hp2 HG02486.hp1	a0009 a0010 a0009 a0010	a0009c0025 a0010c0026 a0009c0025 a0010c0026	a0009c0025t0001 a0010c0026t0003 a0009c0025t0001 a0010c0026t0003	a0009c0025t0001g0293 a0010c0026t0003g0207 a0009c0025t0001g0293 a0010c0026t0003g0207	2	326	0.0061	c.139 others(4): Show c.1394G>A	p.Arg others(6): Show p.Arg465His	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	12/33	1611/5342	1394/4833	465/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167878467	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00140.hp2	a0008 a0008	a0008c0054 a0008c0054	a0008c0054t0003 a0008c0054t0003	a0008c0054t0003g0323 a0008c0054t0003g0323	1	326	0.0031	c.138 others(4): Show c.1385A>G	p.Tyr others(6): Show p.Tyr462Cys	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	12/33	1602/5342	1385/4833	462/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167896633	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG01168.hp1 HG01175.hp1 others(22): Show HG00280.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01261.hp2 HG01515.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03041.hp2 HG03490.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0009 a0003c0022 a0003c0056 others(5): Show a0003c0009 a0003c0022 a0003c0056 a0003c0057 a0004c0011 a0004c0021 a0004c0058 a0007c0055	a0003c0009t0001 a0003c0009t0002 a0003c0009t0003 others(8): Show a0003c0009t0001 a0003c0009t0002 a0003c0009t0003 a0003c0022t0002 a0003c0056t0001 a0003c0057t0002 a0004c0011t0002 a0004c0011t0003 a0004c0021t0002 a0004c0058t0002 a0007c0055t0002	a0003c0009t0001g0312 a0003c0009t0001g0322 a0003c0009t0002g0299 others(22): Show a0003c0009t0001g0312 a0003c0009t0001g0322 a0003c0009t0002g0299 a0003c0009t0002g0303 a0003c0009t0002g0313 a0003c0009t0002g0314 a0003c0009t0003g0297 a0003c0009t0003g0300 a0003c0009t0003g0301 a0003c0009t0003g0304 a0003c0022t0002g0307 a0003c0022t0002g0308 a0003c0056t0001g0309 a0003c0057t0002g0311 a0004c0011t0002g0018 a0004c0011t0002g0023 a0004c0011t0002g0296 a0004c0011t0003g0017 a0004c0011t0003g0019 a0004c0011t0003g0021 a0004c0011t0003g0302 a0004c0021t0002g0306 a0004c0021t0002g0310 a0004c0058t0002g0020 a0007c0055t0002g0305	25	326	0.0767	c.701 others(3): Show c.701C>T	p.Thr others(6): Show p.Thr234Met	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	7/33	918/5342	701/4833	234/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167896683	G G	T T	missense_variant missense_variant	MODERATE	NA18962.hp2 NA18962.hp2	a0025 a0025	a0025c0023 a0025c0023	a0025c0023t0001 a0025c0023t0001	a0025c0023t0001g0004 a0025c0023t0001g0004	1	326	0.0031	c.651 others(3): Show c.651C>A	p.Phe others(6): Show p.Phe217Leu	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	7/33	868/5342	651/4833	217/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167901749	T T	C C	missense_variant missense_variant	MODERATE	HG03710.hp1 HG03710.hp1	a0006 a0006	a0006c0059 a0006c0059	a0006c0059t0001 a0006c0059t0001	a0006c0059t0001g0119 a0006c0059t0001g0119	1	326	0.0031	c.349 others(3): Show c.349A>G	p.Thr others(6): Show p.Thr117Ala	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	5/33	566/5342	349/4833	117/1610	chr1	TogoVar
ADCY1_chr7_45569368_45728116	45574791	C C	T T	missense_variant missense_variant	MODERATE	HG04228.hp1 HG04228.hp1	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0153 a0007c0017t0001g0153	1	278	0.0036	c.248 others(3): Show c.248C>T	p.Ala others(5): Show p.Ala83Val	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	1/20	424/12657	248/3360	83/1119	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45678052	C C	T T	missense_variant missense_variant	MODERATE	NA19058.hp2 NA19058.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0243 a0006c0015t0001g0243	1	278	0.0036	c.178 others(4): Show c.1789C>T	p.Arg others(6): Show p.Arg597Trp	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	9/20	1965/12657	1789/3360	597/1119	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45686199	G G	A A	missense_variant missense_variant	MODERATE	NA19001.hp2 NA19001.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0013 a0005c0010t0013	a0005c0010t0013g0246 a0005c0010t0013g0246	1	278	0.0036	c.231 others(4): Show c.2311G>A	p.Gly others(6): Show p.Gly771Arg	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	13/20	2487/12657	2311/3360	771/1119	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45708350	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00642.hp1 HG01175.hp2 HG01257.hp1 others(2): Show HG00642.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01981.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0031 a0002c0003t0007g0032 a0002c0003t0007g0033 others(2): Show a0002c0003t0007g0031 a0002c0003t0007g0032 a0002c0003t0007g0033 a0002c0003t0007g0129 a0002c0003t0007g0161	5	278	0.0180	c.281 others(4): Show c.2818G>A	p.Ala others(6): Show p.Ala940Thr	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	18/20	2994/12657	2818/3360	940/1119	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45713819	G G	A A	missense_variant missense_variant	MODERATE	HG03492.hp2 HG03492.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0178 a0004c0011t0001g0178	1	278	0.0036	c.318 others(4): Show c.3184G>A	p.Gly others(7): Show p.Gly1062Ser	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	20/20	3360/12657	3184/3360	1062/1119	chr7	TogoVar
ADCY2_chr5_7391138_7835081	7520768	G G	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00642.hp1 HG01074.hp1 others(7): Show HG00323.hp1 HG00642.hp1 HG01074.hp1 HG01123.hp1 HG01192.hp2 HG02738.hp1 HG02922.hp1 HG03209.hp1 HG03710.hp1 NA19043.hp2	a0003 a0004 a0003 a0004	a0003c0011 a0003c0028 a0003c0029 others(3): Show a0003c0011 a0003c0028 a0003c0029 a0004c0016 a0004c0027 a0004c0030	a0003c0011t0002 a0003c0011t0005 a0003c0011t0012 others(5): Show a0003c0011t0002 a0003c0011t0005 a0003c0011t0012 a0003c0028t0012 a0003c0029t0001 a0004c0016t0008 a0004c0027t0001 a0004c0030t0002	a0003c0011t0002g0025 a0003c0011t0005g0014 a0003c0011t0005g0029 others(7): Show a0003c0011t0002g0025 a0003c0011t0005g0014 a0003c0011t0005g0029 a0003c0011t0012g0138 a0003c0028t0012g0134 a0003c0029t0001g0140 a0004c0016t0008g0135 a0004c0016t0008g0137 a0004c0027t0001g0087 a0004c0030t0002g0096	10	140	0.0714	c.439 others(3): Show c.439G>T	p.Val others(6): Show p.Val147Leu	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	3/25	598/6645	439/3276	147/1091	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7520816	G G	A A	missense_variant missense_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0004 a0005c0017t0004	a0005c0017t0004g0024 a0005c0017t0004g0024	1	140	0.0071	c.487 others(3): Show c.487G>A	p.Val others(6): Show p.Val163Ile	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	3/25	646/6645	487/3276	163/1091	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7707749	G G	A A	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0017 a0007c0020t0001g0017	1	140	0.0071	c.131 others(4): Show c.1312G>A	p.Ala others(6): Show p.Ala438Thr	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	9/25	1471/6645	1312/3276	438/1091	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7826740	G G	A A	missense_variant missense_variant	MODERATE	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0010 a0001c0021t0010	a0001c0021t0010g0098 a0001c0021t0010g0098	1	140	0.0071	c.314 others(4): Show c.3145G>A	p.Val others(7): Show p.Val1049Ile	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	25/25	3304/6645	3145/3276	1049/1091	chr5	TogoVar
ADCY3_chr2_24814169_24925237	24820072	G G	A A	missense_variant missense_variant	MODERATE	NA18963.hp2 NA18963.hp2	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0002 a0007c0030t0002	a0007c0030t0002g0186 a0007c0030t0002g0186	1	272	0.0037	c.329 others(4): Show c.3295C>T	p.Arg others(7): Show p.Arg1099Cys	ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding	22/22	4047/4950	3295/3435	1099/1144	chr2	TogoVar
ADCY3_chr2_24814169_24925237	24828101	C C	T T	missense_variant missense_variant	MODERATE	NA18995.hp1 NA18995.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0117 a0006c0023t0001g0117	1	272	0.0037	c.223 others(4): Show c.2233G>A	p.Gly others(6): Show p.Gly745Ser	ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding	14/22	2985/4950	2233/3435	745/1144	chr2	TogoVar
ADCY3_chr2_24814169_24925237	24838446	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0019 a0005c0022t0019	a0005c0022t0019g0228 a0005c0022t0019g0228	1	272	0.0037	c.153 others(4): Show c.1532C>T	p.Ser others(6): Show p.Ser511Leu	ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding	8/22	2284/4950	1532/3435	511/1144	chr2	TogoVar
ADCY3_chr2_24814169_24925237	24918584	G G	T T	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0003 a0004c0019t0003	a0004c0019t0003g0212 a0004c0019t0003g0212	1	272	0.0037	c.404 others(3): Show c.404C>A	p.Thr others(6): Show p.Thr135Asn	ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding	2/22	1156/4950	404/3435	135/1144	chr2	TogoVar
ADCY3_chr2_24814169_24925237	24918669	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18970.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp2 NA19066.hp2 NA19070.hp2 NA19079.hp1 NA19084.hp2 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0002 a0001c0003 a0001c0004 others(20): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0020 a0001c0021 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0004c0019 a0005c0022 a0006c0023	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(41): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0013 a0001c0002t0015 a0001c0002t0017 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0008 a0001c0003t0011 a0001c0004t0001 a0001c0004t0005 a0001c0004t0008 a0001c0004t0016 a0001c0006t0003 a0001c0006t0007 a0001c0008t0003 a0001c0009t0001 a0001c0009t0003 a0001c0009t0022 a0001c0010t0001 a0001c0010t0003 a0001c0010t0008 a0001c0010t0021 a0001c0011t0002 a0001c0012t0001 a0001c0013t0001 a0001c0013t0005 a0001c0014t0006 a0001c0015t0003 a0001c0020t0004 a0001c0021t0005 a0001c0024t0003 a0001c0025t0001 a0001c0026t0003 a0001c0027t0003 a0001c0028t0020 a0001c0029t0003 a0004c0019t0003 a0005c0022t0019 a0006c0023t0001	a0001c0002t0001g0032 a0001c0002t0002g0015 a0001c0002t0002g0018 others(172): Show a0001c0002t0001g0032 a0001c0002t0002g0015 a0001c0002t0002g0018 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0100 a0001c0002t0002g0105 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0072 a0001c0002t0004g0082 a0001c0002t0004g0083 a0001c0002t0004g0087 a0001c0002t0004g0089 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0004g0093 a0001c0002t0004g0094 a0001c0002t0004g0095 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0004g0115 a0001c0002t0006g0215 a0001c0002t0006g0216 a0001c0002t0006g0219 a0001c0002t0006g0224 a0001c0002t0006g0226 a0001c0002t0006g0230 a0001c0002t0006g0231 a0001c0002t0006g0236 a0001c0002t0009g0005 a0001c0002t0009g0006 a0001c0002t0009g0007 a0001c0002t0009g0008 a0001c0002t0013g0269 a0001c0002t0013g0270 a0001c0002t0015g0003 a0001c0002t0017g0011 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0034 a0001c0003t0001g0036 a0001c0003t0001g0047 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0070 a0001c0003t0001g0078 a0001c0003t0001g0081 a0001c0003t0001g0085 a0001c0003t0001g0104 a0001c0003t0001g0108 a0001c0003t0001g0111 a0001c0003t0001g0116 a0001c0003t0003g0213 a0001c0003t0003g0214 a0001c0003t0003g0217 a0001c0003t0003g0225 a0001c0003t0003g0227 a0001c0003t0003g0232 a0001c0003t0003g0233 a0001c0003t0005g0019 a0001c0003t0005g0042 a0001c0003t0005g0043 a0001c0003t0005g0045 a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0003t0005g0050 a0001c0003t0005g0051 a0001c0003t0005g0056 a0001c0003t0005g0057 a0001c0003t0005g0058 a0001c0003t0005g0059 a0001c0003t0005g0060 a0001c0003t0005g0061 a0001c0003t0005g0071 a0001c0003t0005g0075 a0001c0003t0005g0077 a0001c0003t0005g0086 a0001c0003t0008g0220 a0001c0003t0011g0013 a0001c0003t0011g0014 a0001c0004t0001g0033 a0001c0004t0001g0044 a0001c0004t0001g0069 a0001c0004t0001g0079 a0001c0004t0001g0088 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0101 a0001c0004t0001g0103 a0001c0004t0001g0106 a0001c0004t0001g0119 a0001c0004t0005g0046 a0001c0004t0005g0063 a0001c0004t0008g0229 a0001c0004t0008g0235 a0001c0004t0016g0004 a0001c0006t0003g0241 a0001c0006t0003g0242 a0001c0006t0003g0247 a0001c0006t0003g0248 a0001c0006t0003g0256 a0001c0006t0007g0258 a0001c0006t0007g0261 a0001c0006t0007g0262 a0001c0006t0007g0263 a0001c0006t0007g0264 a0001c0008t0003g0237 a0001c0008t0003g0238 a0001c0008t0003g0239 a0001c0008t0003g0240 a0001c0008t0003g0243 a0001c0008t0003g0244 a0001c0008t0003g0245 a0001c0008t0003g0246 a0001c0009t0001g0028 a0001c0009t0001g0118 a0001c0009t0003g0218 a0001c0009t0003g0221 a0001c0009t0003g0222 a0001c0009t0003g0223 a0001c0009t0022g0271 a0001c0010t0001g0120 a0001c0010t0003g0257 a0001c0010t0003g0265 a0001c0010t0003g0267 a0001c0010t0008g0252 a0001c0010t0008g0253 a0001c0010t0021g0266 a0001c0011t0002g0076 a0001c0011t0002g0080 a0001c0011t0002g0084 a0001c0012t0001g0112 a0001c0012t0001g0113 a0001c0012t0001g0114 a0001c0013t0001g0090 a0001c0013t0005g0062 a0001c0014t0006g0259 a0001c0014t0006g0260 a0001c0015t0003g0249 a0001c0015t0003g0250 a0001c0020t0004g0102 a0001c0021t0005g0107 a0001c0024t0003g0234 a0001c0025t0001g0035 a0001c0026t0003g0255 a0001c0027t0003g0254 a0001c0028t0020g0251 a0001c0029t0003g0268 a0004c0019t0003g0212 a0005c0022t0019g0228 a0006c0023t0001g0117	175	272	0.6434	c.319 others(3): Show c.319T>C	p.Ser others(6): Show p.Ser107Pro	ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding	2/22	1071/4950	319/3435	107/1144	chr2	TogoVar
ADCY3_chr2_24814169_24925237	24918900	G G	A A	missense_variant missense_variant	MODERATE	HG00673.hp1 HG00673.hp1	a0003 a0003	a0003c0036 a0003c0036	a0003c0036t0014 a0003c0036t0014	a0003c0036t0014g0002 a0003c0036t0014g0002	1	272	0.0037	c.88C others(2): Show c.88C>T	p.Arg others(5): Show p.Arg30Cys	ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding	2/22	840/4950	88/3435	30/1144	chr2	TogoVar
ADCY4_chr14_24313359_24340071	24319203	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0004 a0005c0013t0004	a0005c0013t0004g0296 a0005c0013t0004g0296	1	438	0.0023	c.285 others(4): Show c.2851C>T	p.Arg others(6): Show p.Arg951Trp	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	23/25	3270/3710	2851/3234	951/1077	chr14	TogoVar
ADCY4_chr14_24313359_24340071	24323409	C C	A A	missense_variant missense_variant	MODERATE	NA18963.hp2 NA18963.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0208 a0006c0017t0001g0208	1	438	0.0023	c.209 others(4): Show c.2092G>T	p.Val others(6): Show p.Val698Leu	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	17/25	2511/3710	2092/3234	698/1077	chr14	TogoVar
ADCY4_chr14_24313359_24340071	24323410	A A	T T	missense_variant missense_variant	MODERATE	NA18963.hp2 NA18963.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0208 a0006c0017t0001g0208	1	438	0.0023	c.209 others(4): Show c.2091T>A	p.Asn others(6): Show p.Asn697Lys	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	17/25	2510/3710	2091/3234	697/1077	chr14	TogoVar
ADCY4_chr14_24313359_24340071	24323412	T T	G G	missense_variant missense_variant	MODERATE	NA18963.hp2 NA18963.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0208 a0006c0017t0001g0208	1	438	0.0023	c.208 others(4): Show c.2089A>C	p.Asn others(6): Show p.Asn697His	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	17/25	2508/3710	2089/3234	697/1077	chr14	TogoVar
ADCY4_chr14_24313359_24340071	24329227	T T	A A	missense_variant missense_variant	MODERATE	HG02602.hp2 HG02602.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0121 a0007c0010t0003g0121	1	438	0.0023	c.135 others(4): Show c.1358A>T	p.Glu others(6): Show p.Glu453Val	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	10/25	1777/3710	1358/3234	453/1077	chr14	TogoVar
ADCY4_chr14_24313359_24340071	24331062	G G	T T	missense_variant missense_variant	MODERATE	HG03834.hp1 HG03834.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0258 a0004c0006t0005g0258	1	438	0.0023	c.886 others(3): Show c.886C>A	p.Leu others(6): Show p.Leu296Ile	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	6/25	1305/3710	886/3234	296/1077	chr14	TogoVar
ADCY4_chr14_24313359_24340071	24331098	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00735.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0111 a0008c0012t0002g0111	1	438	0.0023	c.850 others(3): Show c.850C>T	p.Arg others(6): Show p.Arg284Trp	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	6/25	1269/3710	850/3234	284/1077	chr14	TogoVar
ADCY4_chr14_24313359_24340071	24331294	C C	T T	missense_variant missense_variant	MODERATE	NA18984.hp2 NA18984.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0200 a0003c0015t0001g0200	1	438	0.0023	c.732 others(3): Show c.732G>A	p.Met others(6): Show p.Met244Ile	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	5/25	1151/3710	732/3234	244/1077	chr14	TogoVar
ADCY4_chr14_24313359_24340071	24334504	G G	A A	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01081.hp1 HG01074.hp2 HG01081.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0115 a0002c0005t0002g0116 a0002c0005t0002g0115 a0002c0005t0002g0116	2	438	0.0046	c.149 others(3): Show c.149C>T	p.Ala others(5): Show p.Ala50Val	ADCY4	ENSG00000129467.14	transcript	ENST00000418030.7	protein_coding	1/25	568/3710	149/3234	50/1077	chr14	TogoVar
ADCY5_chr3_123277296_123454090	123296206	C C	T T	missense_variant missense_variant	MODERATE	HG04199.hp2 HG04199.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0002 a0005c0023t0002	a0005c0023t0002g0041 a0005c0023t0002g0041	1	260	0.0039	c.294 others(4): Show c.2941G>A	p.Ala others(6): Show p.Ala981Thr	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	17/21	3486/6643	2941/3786	981/1261	chr3	TogoVar
ADCY5_chr3_123277296_123454090	123303155	T T	C C	missense_variant missense_variant	MODERATE	NA18947.hp1 NA19005.hp1 NA19007.hp1 NA18947.hp1 NA19005.hp1 NA19007.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0002 a0002c0006t0001 a0002c0006t0002	a0002c0006t0001g0206 a0002c0006t0001g0221 a0002c0006t0002g0063 a0002c0006t0001g0206 a0002c0006t0001g0221 a0002c0006t0002g0063	3	260	0.0115	c.262 others(4): Show c.2624A>G	p.Gln others(6): Show p.Gln875Arg	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	14/21	3169/6643	2624/3786	875/1261	chr3	TogoVar
ADCY5_chr3_123277296_123454090	123332656	C C	T T	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18952.hp1	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0165 a0006c0017t0001g0165	1	260	0.0039	c.142 others(4): Show c.1426G>A	p.Glu others(6): Show p.Glu476Lys	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	4/21	1971/6643	1426/3786	476/1261	chr3	TogoVar
ADCY5_chr3_123277296_123454090	123448179	C C	T T	missense_variant missense_variant	MODERATE	HG03927.hp2 HG03927.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0004 a0007c0016t0004	a0007c0016t0004g0003 a0007c0016t0004g0003	1	260	0.0039	c.367 others(3): Show c.367G>A	p.Ala others(6): Show p.Ala123Thr	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/21	912/6643	367/3786	123/1261	chr3	TogoVar

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