Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
ADCK2_chr7_140667945_140700110	140689693	C C	G G	missense_variant missense_variant	MODERATE	HG00673.hp1 HG00673.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0096 a0008c0011t0001g0096	1	288	0.0035	c.165 others(4): Show c.1654C>G	p.Gln others(6): Show p.Gln552Glu	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	6/8	2040/2574	1654/1881	552/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140690772	A A	C C	missense_variant missense_variant	MODERATE	HG01978.hp2 HG01978.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0010 a0009c0010t0001g0010	1	288	0.0035	c.169 others(4): Show c.1699A>C	p.Ser others(6): Show p.Ser567Arg	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	7/8	2085/2574	1699/1881	567/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140690774	C C	G G	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0002 a0011c0016t0002	a0011c0016t0002g0123 a0011c0016t0002g0123	1	288	0.0035	c.170 others(4): Show c.1701C>G	p.Ser others(6): Show p.Ser567Arg	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	7/8	2087/2574	1701/1881	567/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140694787	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00741.hp1 HG00741.hp2 others(47): Show HG00609.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01993.hp1 HG02109.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp2 NA18612.hp1 NA18906.hp2 NA18947.hp1 NA18963.hp1 NA18967.hp2 NA18986.hp1 NA19062.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19084.hp1 NA19086.hp2 NA19240.hp1 NA21309.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0003c0014 a0006c0006 a0003c0003 a0003c0014 a0006c0006	a0003c0003t0002 a0003c0003t0007 a0003c0003t0008 others(4): Show a0003c0003t0002 a0003c0003t0007 a0003c0003t0008 a0003c0003t0010 a0003c0003t0011 a0003c0014t0009 a0006c0006t0001	a0003c0003t0002g0002 a0003c0003t0002g0004 a0003c0003t0002g0018 others(23): Show a0003c0003t0002g0002 a0003c0003t0002g0004 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0036 a0003c0003t0002g0121 a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0002g0126 a0003c0003t0002g0128 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0140 a0003c0003t0007g0033 a0003c0003t0008g0002 a0003c0003t0010g0018 a0003c0003t0011g0002 a0003c0014t0009g0019 a0006c0006t0001g0030 a0006c0006t0001g0107	50	288	0.1736	c.186 others(4): Show c.1865C>T	p.Pro others(6): Show p.Pro622Leu	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	8/8	2251/2574	1865/1881	622/626	chr7	TogoVar
ADCK2_chr7_140667945_140700110	140694799	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG02738.hp2 HG00099.hp2 HG02738.hp2	a0007 a0012 a0007 a0012	a0007c0008 a0012c0015 a0007c0008 a0012c0015	a0007c0008t0001 a0012c0015t0003 a0007c0008t0001 a0012c0015t0003	a0007c0008t0001g0108 a0012c0015t0003g0143 a0007c0008t0001g0108 a0012c0015t0003g0143	2	288	0.0069	c.187 others(4): Show c.1877C>T	p.Pro others(6): Show p.Pro626Leu	ADCK2	ENSG00000133597.11	transcript	ENST00000072869.9	protein_coding	8/8	2263/2574	1877/1881	626/626	chr7	TogoVar
ADCK5_chr8_144369047_144398242	144379425	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02735.hp2 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19080.hp2 NA19084.hp2 NA19087.hp2 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0010	a0002c0002 a0002c0009 a0003c0004 others(3): Show a0002c0002 a0002c0009 a0003c0004 a0004c0005 a0006c0008 a0010c0007	a0002c0002t0001 a0002c0002t0007 a0002c0009t0001 others(5): Show a0002c0002t0001 a0002c0002t0007 a0002c0009t0001 a0003c0004t0001 a0003c0004t0002 a0004c0005t0001 a0006c0008t0001 a0010c0007t0001	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0005 others(76): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0013 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0199 a0002c0002t0007g0002 a0002c0009t0001g0018 a0003c0004t0001g0054 a0003c0004t0001g0078 a0003c0004t0001g0122 a0003c0004t0002g0086 a0003c0004t0002g0104 a0004c0005t0001g0113 a0004c0005t0001g0116 a0004c0005t0001g0118 a0004c0005t0001g0119 a0006c0008t0001g0055 a0010c0007t0001g0106	131	344	0.3808	c.51C others(2): Show c.51C>A	p.Ser others(5): Show p.Ser17Arg	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/15	100/1960	51/1743	17/580	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144391006	C C	T T	missense_variant missense_variant	MODERATE	HG01993.hp2 HG01993.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0002 a0008c0014t0002	a0008c0014t0002g0001 a0008c0014t0002g0001	1	344	0.0029	c.493 others(3): Show c.493C>T	p.Arg others(6): Show p.Arg165Trp	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	5/15	542/1960	493/1743	165/580	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144391018	G G	A A	missense_variant missense_variant	MODERATE	NA18984.hp2 NA19003.hp1 NA19089.hp1 NA18984.hp2 NA19003.hp1 NA19089.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0142 a0005c0006t0002g0169 a0005c0006t0002g0174 a0005c0006t0002g0142 a0005c0006t0002g0169 a0005c0006t0002g0174	3	344	0.0087	c.505 others(3): Show c.505G>A	p.Val others(6): Show p.Val169Met	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	5/15	554/1960	505/1743	169/580	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144391042	C C	T T	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0186 a0009c0013t0002g0186	1	344	0.0029	c.529 others(3): Show c.529C>T	p.Arg others(6): Show p.Arg177Trp	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	5/15	578/1960	529/1743	177/580	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144391823	A A	G G	missense_variant missense_variant	MODERATE	NA18975.hp2 NA18983.hp2 NA18997.hp2 others(1): Show NA18975.hp2 NA18983.hp2 NA18997.hp2 NA19087.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0113 a0004c0005t0001g0116 a0004c0005t0001g0118 others(1): Show a0004c0005t0001g0113 a0004c0005t0001g0116 a0004c0005t0001g0118 a0004c0005t0001g0119	4	344	0.0116	c.971 others(3): Show c.971A>G	p.Asn others(6): Show p.Asn324Ser	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	9/15	1020/1960	971/1743	324/580	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144391993	T T	A A	missense_variant missense_variant	MODERATE	NA18951.hp2 NA18951.hp2	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0001 a0010c0007t0001	a0010c0007t0001g0106 a0010c0007t0001g0106	1	344	0.0029	c.106 others(4): Show c.1067T>A	p.Phe others(6): Show p.Phe356Tyr	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	10/15	1116/1960	1067/1743	356/580	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144392145	G G	A A	missense_variant missense_variant	MODERATE	NA18951.hp2 NA18951.hp2	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0001 a0010c0007t0001	a0010c0007t0001g0106 a0010c0007t0001g0106	1	344	0.0029	c.115 others(4): Show c.1150G>A	p.Gly others(6): Show p.Gly384Arg	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	11/15	1199/1960	1150/1743	384/580	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144392257	C C	A A	missense_variant missense_variant	MODERATE	NA18951.hp2 NA18951.hp2	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0001 a0010c0007t0001	a0010c0007t0001g0106 a0010c0007t0001g0106	1	344	0.0029	c.117 others(4): Show c.1179C>A	p.Asp others(6): Show p.Asp393Glu	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	12/15	1228/1960	1179/1743	393/580	chr8	TogoVar
ADCY10_chr1_167804386_167919134	167810781	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0002 a0015c0030t0002	a0015c0030t0002g0282 a0015c0030t0002g0282	1	324	0.0031	c.461 others(4): Show c.4615C>T	p.Arg others(7): Show p.Arg1539Trp	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	32/33	4832/5342	4615/4833	1539/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167810834	C C	T T	missense_variant missense_variant	MODERATE	HG01981.hp1 HG02004.hp1 HG02735.hp2 others(2): Show HG01981.hp1 HG02004.hp1 HG02735.hp2 NA18975.hp1 NA19078.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0210 a0005c0013t0001g0211 a0005c0013t0001g0212 others(2): Show a0005c0013t0001g0210 a0005c0013t0001g0211 a0005c0013t0001g0212 a0005c0013t0001g0219 a0005c0013t0001g0242	5	324	0.0154	c.456 others(4): Show c.4562G>A	p.Cys others(7): Show p.Cys1521Tyr	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	32/33	4779/5342	4562/4833	1521/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167823118	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00280.hp1	a0007 a0007	a0007c0049 a0007c0049	a0007c0049t0002 a0007c0049t0002	a0007c0049t0002g0058 a0007c0049t0002g0058	1	324	0.0031	c.405 others(4): Show c.4058C>T	p.Pro others(7): Show p.Pro1353Leu	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	29/33	4275/5342	4058/4833	1353/1610	chr1	TogoVar
ADCY10_chr1_167804386_167919134	167824777	T T	C C	missense_variant missense_variant	MODERATE	NA18982.hp2 NA18982.hp2	a0021 a0021	a0021c0043 a0021c0043	a0021c0043t0002 a0021c0043t0002	a0021c0043t0002g0114 a0021c0043t0002g0114	1	324	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	a0012 a0013 a0012 a0013	a0012c0034 a0013c0039 a0012c0034 a0013c0039	a0012c0034t0002 a0013c0039t0002 a0012c0034t0002 a0013c0039t0002	a0012c0034t0002g0197 a0013c0039t0002g0204 a0012c0034t0002g0197 a0013c0039t0002g0204	2	324	0.0062	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	a0023c0029t0002g0126 a0023c0029t0002g0126	1	324	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	a0018 a0019 a0018 a0019	a0018c0028 a0019c0032 a0018c0028 a0019c0032	a0018c0028t0003 a0019c0032t0003 a0018c0028t0003 a0019c0032t0003	a0018c0028t0003g0173 a0019c0032t0003g0165 a0018c0028t0003g0173 a0019c0032t0003g0165	2	324	0.0062	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	a0022 a0022	a0022c0027 a0022c0027	a0022c0027t0001 a0022c0027t0001	a0022c0027t0001g0038 a0022c0027t0001g0038	1	324	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	a0022 a0022	a0022c0027 a0022c0027	a0022c0027t0001 a0022c0027t0001	a0022c0027t0001g0038 a0022c0027t0001g0038	1	324	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	a0022 a0022	a0022c0027 a0022c0027	a0022c0027t0001 a0022c0027t0001	a0022c0027t0001g0038 a0022c0027t0001g0038	1	324	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	a0022 a0022	a0022c0027 a0022c0027	a0022c0027t0001 a0022c0027t0001	a0022c0027t0001g0038 a0022c0027t0001g0038	1	324	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	a0017 a0017	a0017c0040 a0017c0040	a0017c0040t0003 a0017c0040t0003	a0017c0040t0003g0230 a0017c0040t0003g0230	1	324	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	a0024 a0024	a0024c0035 a0024c0035	a0024c0035t0001 a0024c0035t0001	a0024c0035t0001g0043 a0024c0035t0001g0043	1	324	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	a0024 a0024	a0024c0035 a0024c0035	a0024c0035t0001 a0024c0035t0001	a0024c0035t0001g0043 a0024c0035t0001g0043	1	324	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	a0024 a0024	a0024c0035 a0024c0035	a0024c0035t0001 a0024c0035t0001	a0024c0035t0001g0043 a0024c0035t0001g0043	1	324	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	a0009 a0009	a0009c0055 a0009c0055	a0009c0055t0002 a0009c0055t0002	a0009c0055t0002g0297 a0009c0055t0002g0297	1	324	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	a0021 a0021	a0021c0043 a0021c0043	a0021c0043t0002 a0021c0043t0002	a0021c0043t0002g0114 a0021c0043t0002g0114	1	324	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	a0008 a0008	a0008c0036 a0008c0036	a0008c0036t0001 a0008c0036t0001	a0008c0036t0001g0168 a0008c0036t0001g0168	1	324	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 a0007 a0010 a0013 a0014 a0016 a0017 a0018 a0021 a0022 a0023	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 a0007c0049 a0010c0026 a0013c0039 a0014c0042 a0016c0059 a0017c0040 a0018c0028 a0021c0043 a0022c0027 a0023c0029	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 a0007c0049t0002 a0010c0026t0003 a0013c0039t0002 a0014c0042t0002 a0016c0059t0001 a0017c0040t0003 a0018c0028t0003 a0021c0043t0002 a0022c0027t0001 a0023c0029t0002	a0001c0002t0001g0003 a0001c0002t0001g0019 a0001c0002t0001g0048 others(178): Show a0001c0002t0001g0003 a0001c0002t0001g0019 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0153 a0001c0002t0001g0190 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0002g0255 a0001c0003t0001g0025 a0001c0003t0001g0053 a0001c0003t0001g0062 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0082 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0125 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0152 a0001c0003t0001g0166 a0001c0003t0001g0169 a0001c0003t0001g0175 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0183 a0001c0003t0001g0185 a0001c0003t0001g0271 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0102 a0001c0003t0002g0122 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0174 a0001c0003t0002g0177 a0001c0003t0002g0182 a0001c0004t0001g0007 a0001c0004t0001g0011 a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0017 a0001c0004t0001g0057 a0001c0004t0001g0111 a0001c0004t0001g0112 a0001c0004t0001g0181 a0001c0004t0001g0196 a0001c0004t0002g0004 a0001c0004t0002g0006 a0001c0004t0002g0008 a0001c0004t0002g0009 a0001c0004t0002g0010 a0001c0004t0002g0014 a0001c0004t0002g0044 a0001c0004t0002g0072 a0001c0004t0002g0199 a0001c0004t0002g0200 a0001c0004t0002g0202 a0001c0004t0002g0278 a0001c0004t0003g0001 a0001c0004t0003g0257 a0001c0004t0003g0268 a0001c0004t0003g0286 a0001c0005t0001g0213 a0001c0005t0001g0214 a0001c0005t0001g0216 a0001c0005t0001g0218 a0001c0005t0001g0250 a0001c0005t0001g0308 a0001c0005t0001g0309 a0001c0005t0002g0002 a0001c0005t0002g0224 a0001c0005t0002g0226 a0001c0005t0002g0233 a0001c0005t0002g0234 a0001c0005t0002g0235 a0001c0005t0002g0238 a0001c0005t0002g0239 a0001c0005t0002g0240 a0001c0005t0002g0241 a0001c0005t0002g0245 a0001c0005t0002g0248 a0001c0005t0002g0317 a0001c0005t0003g0208 a0001c0005t0003g0227 a0001c0005t0004g0232 a0001c0010t0001g0215 a0001c0010t0001g0228 a0001c0010t0001g0231 a0001c0010t0001g0243 a0001c0010t0001g0244 a0001c0010t0001g0246 a0001c0010t0001g0249 a0001c0010t0002g0237 a0001c0010t0003g0087 a0001c0012t0001g0037 a0001c0012t0001g0039 a0001c0012t0001g0040 a0001c0012t0001g0042 a0001c0012t0002g0135 a0001c0012t0002g0137 a0001c0014t0001g0077 a0001c0014t0001g0088 a0001c0014t0001g0107 a0001c0014t0002g0192 a0001c0014t0003g0142 a0001c0015t0001g0020 a0001c0015t0001g0120 a0001c0015t0001g0209 a0001c0015t0003g0229 a0001c0016t0002g0127 a0001c0016t0002g0129 a0001c0016t0002g0130 a0001c0018t0001g0198 a0001c0018t0003g0138 a0001c0024t0003g0134 a0001c0037t0002g0194 a0001c0038t0001g0284 a0001c0044t0001g0184 a0001c0048t0001g0047 a0001c0050t0001g0059 a0001c0051t0001g0046 a0001c0052t0001g0081 a0001c0053t0001g0269 a0004c0011t0002g0288 a0004c0011t0002g0311 a0004c0011t0002g0316 a0004c0011t0003g0294 a0004c0011t0003g0310 a0004c0011t0003g0312 a0004c0011t0003g0314 a0004c0021t0002g0299 a0004c0021t0002g0303 a0004c0058t0002g0313 a0005c0013t0001g0210 a0005c0013t0001g0211 a0005c0013t0001g0212 a0005c0013t0001g0219 a0005c0013t0001g0242 a0007c0049t0002g0058 a0010c0026t0003g0201 a0013c0039t0002g0204 a0014c0042t0002g0050 a0016c0059t0001g0113 a0017c0040t0003g0230 a0018c0028t0003g0173 a0021c0043t0002g0114 a0022c0027t0001g0038 a0023c0029t0002g0126	184	324	0.5679	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	a0014 a0014	a0014c0042 a0014c0042	a0014c0042t0002 a0014c0042t0002	a0014c0042t0002g0050 a0014c0042t0002g0050	1	324	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	a0010 a0011 a0010 a0011	a0010c0026 a0011c0025 a0010c0026 a0011c0025	a0010c0026t0003 a0011c0025t0001 a0010c0026t0003 a0011c0025t0001	a0010c0026t0003g0201 a0011c0025t0001g0285 a0010c0026t0003g0201 a0011c0025t0001g0285	2	324	0.0062	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	a0006 a0006	a0006c0054 a0006c0054	a0006c0054t0003 a0006c0054t0003	a0006c0054t0003g0323 a0006c0054t0003g0323	1	324	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 a0009 a0003 a0004 a0009	a0003c0009 a0003c0022 a0003c0056 others(5): Show a0003c0009 a0003c0022 a0003c0056 a0003c0057 a0004c0011 a0004c0021 a0004c0058 a0009c0055	a0003c0009t0001 a0003c0009t0002 a0003c0009t0003 others(8): Show a0003c0009t0001 a0003c0009t0002 a0003c0009t0003 a0003c0022t0002 a0003c0056t0001 a0003c0057t0002 a0004c0011t0002 a0004c0011t0003 a0004c0021t0002 a0004c0058t0002 a0009c0055t0002	a0003c0009t0001g0305 a0003c0009t0001g0321 a0003c0009t0002g0291 others(22): Show a0003c0009t0001g0305 a0003c0009t0001g0321 a0003c0009t0002g0291 a0003c0009t0002g0295 a0003c0009t0002g0300 a0003c0009t0002g0306 a0003c0009t0003g0289 a0003c0009t0003g0292 a0003c0009t0003g0293 a0003c0009t0003g0296 a0003c0022t0002g0298 a0003c0022t0002g0301 a0003c0056t0001g0302 a0003c0057t0002g0304 a0004c0011t0002g0288 a0004c0011t0002g0311 a0004c0011t0002g0316 a0004c0011t0003g0294 a0004c0011t0003g0310 a0004c0011t0003g0312 a0004c0011t0003g0314 a0004c0021t0002g0299 a0004c0021t0002g0303 a0004c0058t0002g0313 a0009c0055t0002g0297	25	324	0.0772	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	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0001 a0020c0023t0001	a0020c0023t0001g0005 a0020c0023t0001g0005	1	324	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	a0016 a0016	a0016c0059 a0016c0059	a0016c0059t0001 a0016c0059t0001	a0016c0059t0001g0113 a0016c0059t0001g0113	1	324	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	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0152 a0005c0017t0001g0152	1	276	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	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0242 a0007c0015t0001g0242	1	276	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	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0014 a0006c0010t0014	a0006c0010t0014g0245 a0006c0010t0014g0245	1	276	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	a0002c0003t0007g0032 a0002c0003t0007g0033 a0002c0003t0007g0034 others(2): Show a0002c0003t0007g0032 a0002c0003t0007g0033 a0002c0003t0007g0034 a0002c0003t0007g0128 a0002c0003t0007g0160	5	276	0.0181	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	a0004c0011t0001g0177 a0004c0011t0001g0177	1	276	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	138	0.0725	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	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0004 a0007c0017t0004	a0007c0017t0004g0024 a0007c0017t0004g0024	1	138	0.0072	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	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0017 a0006c0020t0001g0017	1	138	0.0072	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	138	0.0072	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	a0005 a0005	a0005c0030 a0005c0030	a0005c0030t0002 a0005c0030t0002	a0005c0030t0002g0185 a0005c0030t0002g0185	1	270	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	a0006c0023t0001g0120 a0006c0023t0001g0120	1	270	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	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0019 a0007c0022t0019	a0007c0022t0019g0228 a0007c0022t0019g0228	1	270	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

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