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
ADCY3_chr2_24814169_24925237	24918584	G G	T T	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0003 a0004c0019t0003	a0004c0019t0003g0211 a0004c0019t0003g0211	1	270	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 a0006 others(1): Show a0001 a0004 a0006 a0007	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 a0006c0023 a0007c0022	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 a0006c0023t0001 a0007c0022t0019	a0001c0002t0001g0110 a0001c0002t0002g0018 a0001c0002t0002g0021 others(171): Show a0001c0002t0001g0110 a0001c0002t0002g0018 a0001c0002t0002g0021 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0098 a0001c0002t0002g0107 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0074 a0001c0002t0004g0083 a0001c0002t0004g0084 a0001c0002t0004g0086 a0001c0002t0004g0087 a0001c0002t0004g0088 a0001c0002t0004g0089 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0004g0093 a0001c0002t0004g0094 a0001c0002t0004g0101 a0001c0002t0004g0115 a0001c0002t0006g0214 a0001c0002t0006g0215 a0001c0002t0006g0218 a0001c0002t0006g0224 a0001c0002t0006g0226 a0001c0002t0006g0227 a0001c0002t0006g0231 a0001c0002t0006g0235 a0001c0002t0009g0008 a0001c0002t0009g0009 a0001c0002t0009g0010 a0001c0002t0009g0011 a0001c0002t0013g0266 a0001c0002t0013g0267 a0001c0002t0015g0006 a0001c0002t0017g0014 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0049 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0080 a0001c0003t0001g0085 a0001c0003t0001g0099 a0001c0003t0001g0106 a0001c0003t0001g0111 a0001c0003t0001g0114 a0001c0003t0001g0116 a0001c0003t0003g0212 a0001c0003t0003g0213 a0001c0003t0003g0216 a0001c0003t0003g0225 a0001c0003t0003g0229 a0001c0003t0003g0232 a0001c0003t0003g0233 a0001c0003t0005g0022 a0001c0003t0005g0044 a0001c0003t0005g0045 a0001c0003t0005g0047 a0001c0003t0005g0050 a0001c0003t0005g0051 a0001c0003t0005g0052 a0001c0003t0005g0053 a0001c0003t0005g0054 a0001c0003t0005g0055 a0001c0003t0005g0056 a0001c0003t0005g0057 a0001c0003t0005g0058 a0001c0003t0005g0061 a0001c0003t0005g0073 a0001c0003t0005g0077 a0001c0003t0005g0079 a0001c0003t0005g0105 a0001c0003t0008g0219 a0001c0003t0011g0016 a0001c0003t0011g0017 a0001c0004t0001g0035 a0001c0004t0001g0046 a0001c0004t0001g0067 a0001c0004t0001g0081 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0097 a0001c0004t0001g0100 a0001c0004t0001g0103 a0001c0004t0001g0108 a0001c0004t0001g0122 a0001c0004t0005g0048 a0001c0004t0005g0060 a0001c0004t0008g0223 a0001c0004t0008g0230 a0001c0004t0016g0007 a0001c0006t0003g0238 a0001c0006t0003g0239 a0001c0006t0003g0244 a0001c0006t0003g0245 a0001c0006t0003g0252 a0001c0006t0007g0255 a0001c0006t0007g0258 a0001c0006t0007g0259 a0001c0006t0007g0260 a0001c0006t0007g0261 a0001c0008t0003g0004 a0001c0008t0003g0236 a0001c0008t0003g0237 a0001c0008t0003g0240 a0001c0008t0003g0241 a0001c0008t0003g0242 a0001c0008t0003g0243 a0001c0009t0001g0031 a0001c0009t0001g0121 a0001c0009t0003g0217 a0001c0009t0003g0220 a0001c0009t0003g0221 a0001c0009t0003g0222 a0001c0009t0022g0268 a0001c0010t0001g0123 a0001c0010t0003g0254 a0001c0010t0003g0262 a0001c0010t0003g0264 a0001c0010t0008g0248 a0001c0010t0008g0249 a0001c0010t0021g0263 a0001c0011t0002g0078 a0001c0011t0002g0082 a0001c0011t0002g0090 a0001c0012t0001g0117 a0001c0012t0001g0118 a0001c0012t0001g0119 a0001c0013t0001g0104 a0001c0013t0005g0059 a0001c0014t0006g0256 a0001c0014t0006g0257 a0001c0015t0003g0246 a0001c0015t0003g0247 a0001c0020t0004g0102 a0001c0021t0005g0109 a0001c0024t0003g0234 a0001c0025t0001g0037 a0001c0026t0003g0253 a0001c0027t0003g0251 a0001c0028t0020g0250 a0001c0029t0003g0265 a0004c0019t0003g0211 a0006c0023t0001g0120 a0007c0022t0019g0228	175	270	0.6481	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	a0003c0036t0014g0005 a0003c0036t0014g0005	1	270	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	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0004 a0004c0013t0004	a0004c0013t0004g0295 a0004c0013t0004g0295	1	436	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	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0207 a0007c0017t0001g0207	1	436	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	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0207 a0007c0017t0001g0207	1	436	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	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0207 a0007c0017t0001g0207	1	436	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	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0121 a0005c0010t0003g0121	1	436	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	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0005 a0006c0006t0005	a0006c0006t0005g0257 a0006c0006t0005g0257	1	436	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	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0111 a0003c0012t0002g0111	1	436	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	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0199 a0008c0015t0001g0199	1	436	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	436	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	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0002 a0007c0023t0002	a0007c0023t0002g0043 a0007c0023t0002g0043	1	258	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	a0002c0006t0001g0207 a0002c0006t0001g0222 a0002c0006t0002g0065 a0002c0006t0001g0207 a0002c0006t0001g0222 a0002c0006t0002g0065	3	258	0.0116	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	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0166 a0008c0017t0001g0166	1	258	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	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0004 a0006c0016t0004	a0006c0016t0004g0003 a0006c0016t0004g0003	1	258	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
ADCY5_chr3_123277296_123454090	123448304	G G	A A	missense_variant missense_variant	MODERATE	NA18967.hp1 NA19058.hp2 NA18967.hp1 NA19058.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0252 a0004c0012t0001g0253 a0004c0012t0001g0252 a0004c0012t0001g0253	2	258	0.0078	c.242 others(3): Show c.242C>T	p.Pro others(5): Show p.Pro81Leu	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/21	787/6643	242/3786	81/1261	chr3	TogoVar
ADCY5_chr3_123277296_123454090	123448416	G G	A A	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0002 a0009c0026t0002	a0009c0026t0002g0084 a0009c0026t0002g0084	1	258	0.0039	c.130 others(3): Show c.130C>T	p.His others(5): Show p.His44Tyr	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/21	675/6643	130/3786	44/1261	chr3	TogoVar
ADCY5_chr3_123277296_123454090	123448491	C C	T T	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01257.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0002 a0005c0014t0002	a0005c0014t0002g0001 a0005c0014t0002g0001	1	257	0.0039	c.55G others(2): Show c.55G>A	p.Ala others(5): Show p.Ala19Thr	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/21	600/6643	55/3786	19/1261	chr3	TogoVar
ADCY5_chr3_123277296_123454090	123448517	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0254 a0003c0013t0001g0255 a0003c0013t0001g0254 a0003c0013t0001g0255	2	258	0.0078	c.29C others(2): Show c.29C>T	p.Pro others(5): Show p.Pro10Leu	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/21	574/6643	29/3786	10/1261	chr3	TogoVar
ADCY6_chr12_48761194_48794089	48772532	T T	C C	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00438.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0001 a0005c0021t0001	a0005c0021t0001g0130 a0005c0021t0001g0130	1	302	0.0033	c.263 others(4): Show c.2633A>G	p.Asn others(6): Show p.Asn878Ser	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	17/22	2821/6092	2633/3507	878/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48774437	C C	T T	missense_variant missense_variant	MODERATE	HG04228.hp2 HG04228.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0186 a0010c0020t0001g0186	1	302	0.0033	c.224 others(4): Show c.2248G>A	p.Val others(6): Show p.Val750Ile	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	14/22	2436/6092	2248/3507	750/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48775006	G G	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02257.hp1 HG02647.hp1 others(7): Show HG02055.hp2 HG02257.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 NA20129.hp2	a0002 a0008 a0002 a0008	a0002c0005 a0008c0015 a0002c0005 a0008c0015	a0002c0005t0001 a0008c0015t0001 a0002c0005t0001 a0008c0015t0001	a0002c0005t0001g0023 a0002c0005t0001g0088 a0002c0005t0001g0089 others(6): Show a0002c0005t0001g0023 a0002c0005t0001g0088 a0002c0005t0001g0089 a0002c0005t0001g0090 a0002c0005t0001g0091 a0002c0005t0001g0092 a0002c0005t0001g0093 a0002c0005t0001g0094 a0008c0015t0001g0095	10	302	0.0331	c.202 others(4): Show c.2029C>A	p.Leu others(6): Show p.Leu677Met	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	12/22	2217/6092	2029/3507	677/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48775015	C C	A A	missense_variant missense_variant	MODERATE	HG01516.hp2 HG01891.hp1 HG02109.hp2 HG01516.hp2 HG01891.hp1 HG02109.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0036 a0003c0008t0001g0191 a0003c0008t0001g0036 a0003c0008t0001g0191	3	302	0.0099	c.202 others(4): Show c.2020G>T	p.Ala others(6): Show p.Ala674Ser	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	12/22	2208/6092	2020/3507	674/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48776058	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp1 HG01192.hp2 HG00639.hp1 HG01192.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0050 a0004c0009t0001g0059 a0004c0009t0001g0050 a0004c0009t0001g0059	2	302	0.0066	c.171 others(4): Show c.1711C>T	p.Arg others(6): Show p.Arg571Trp	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	9/22	1899/6092	1711/3507	571/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48776246	A A	G G	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0007 a0009c0014t0007	a0009c0014t0007g0064 a0009c0014t0007g0064	1	302	0.0033	c.164 others(4): Show c.1640T>C	p.Ile others(6): Show p.Ile547Thr	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	8/22	1828/6092	1640/3507	547/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48776286	G G	A A	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0001 a0011c0023t0001	a0011c0023t0001g0179 a0011c0023t0001g0179	1	302	0.0033	c.160 others(4): Show c.1600C>T	p.Arg others(6): Show p.Arg534Cys	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	8/22	1788/6092	1600/3507	534/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48782720	G G	C C	missense_variant missense_variant	MODERATE	HG01258.hp1 HG01258.hp1	a0006 a0006	a0006c0024 a0006c0024	a0006c0024t0001 a0006c0024t0001	a0006c0024t0001g0198 a0006c0024t0001g0198	1	302	0.0033	c.715 others(3): Show c.715C>G	p.Leu others(6): Show p.Leu239Val	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	2/22	903/6092	715/3507	239/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48782810	A A	C C	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0125 a0012c0017t0001g0125	1	302	0.0033	c.625 others(3): Show c.625T>G	p.Trp others(6): Show p.Trp209Gly	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	2/22	813/6092	625/3507	209/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48782811	C C	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0125 a0012c0017t0001g0125	1	302	0.0033	c.624 others(3): Show c.624G>T	p.Met others(6): Show p.Met208Ile	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	2/22	812/6092	624/3507	208/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48782812	A A	C C	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0125 a0012c0017t0001g0125	1	302	0.0033	c.623 others(3): Show c.623T>G	p.Met others(6): Show p.Met208Arg	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	2/22	811/6092	623/3507	208/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48782831	T T	C C	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0095 a0008c0015t0001g0095	1	302	0.0033	c.604 others(3): Show c.604A>G	p.Ser others(6): Show p.Ser202Gly	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	2/22	792/6092	604/3507	202/1168	chr12	TogoVar
ADCY6_chr12_48761194_48794089	48783022	C C	T T	missense_variant missense_variant	MODERATE	HG01361.hp1 HG01361.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0065 a0007c0012t0001g0065	1	302	0.0033	c.413 others(3): Show c.413G>A	p.Arg others(6): Show p.Arg138His	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	2/22	601/6092	413/3507	138/1168	chr12	TogoVar
ADCY7_chr16_50261551_50323135	50290650	C C	T T	missense_variant missense_variant	MODERATE	HG02155.hp2 NA18967.hp2 NA19090.hp2 HG02155.hp2 NA18967.hp2 NA19090.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0003 a0005c0011t0001 a0005c0011t0003	a0005c0011t0001g0164 a0005c0011t0001g0168 a0005c0011t0003g0163 a0005c0011t0001g0164 a0005c0011t0001g0168 a0005c0011t0003g0163	3	336	0.0089	c.365 others(3): Show c.365C>T	p.Ala others(6): Show p.Ala122Val	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	3/26	763/6271	365/3243	122/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50292755	G G	A A	missense_variant missense_variant	MODERATE	HG00423.hp1 NA19066.hp1 NA19074.hp1 HG00423.hp1 NA19066.hp1 NA19074.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0113 a0003c0009t0003g0238 a0003c0009t0003g0266 a0003c0009t0003g0113 a0003c0009t0003g0238 a0003c0009t0003g0266	3	336	0.0089	c.617 others(3): Show c.617G>A	p.Arg others(6): Show p.Arg206Gln	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	5/26	1015/6271	617/3243	206/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50300728	G G	T T	missense_variant missense_variant	MODERATE	HG02083.hp2 HG02083.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0001 a0006c0026t0001	a0006c0026t0001g0200 a0006c0026t0001g0200	1	336	0.0030	c.109 others(4): Show c.1090G>T	p.Ala others(6): Show p.Ala364Ser	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	9/26	1488/6271	1090/3243	364/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50304430	C C	T T	missense_variant missense_variant	MODERATE	HG00738.hp2 HG03239.hp1 HG04199.hp1 HG00738.hp2 HG03239.hp1 HG04199.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0004 a0004c0010t0004	a0004c0010t0004g0215 a0004c0010t0004g0216 a0004c0010t0004g0241 a0004c0010t0004g0215 a0004c0010t0004g0216 a0004c0010t0004g0241	3	336	0.0089	c.143 others(4): Show c.1439C>T	p.Ala others(6): Show p.Ala480Val	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	11/26	1837/6271	1439/3243	480/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50304537	G G	A A	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0002 a0009c0016t0002	a0009c0016t0002g0137 a0009c0016t0002g0137	1	336	0.0030	c.154 others(4): Show c.1546G>A	p.Gly others(6): Show p.Gly516Arg	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	11/26	1944/6271	1546/3243	516/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50304938	G G	A A	missense_variant missense_variant	MODERATE	HG04204.hp1 HG04204.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0006 a0010c0017t0006	a0010c0017t0006g0253 a0010c0017t0006g0253	1	336	0.0030	c.157 others(4): Show c.1574G>A	p.Arg others(6): Show p.Arg525His	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	12/26	1972/6271	1574/3243	525/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50307078	G G	A A	missense_variant missense_variant	MODERATE	HG03139.hp1 HG03139.hp1	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0004 a0008c0018t0004	a0008c0018t0004g0011 a0008c0018t0004g0011	1	336	0.0030	c.178 others(4): Show c.1781G>A	p.Arg others(6): Show p.Arg594His	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	15/26	2179/6271	1781/3243	594/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50312076	A A	T T	missense_variant missense_variant	MODERATE	HG02273.hp1 HG02273.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0001 a0007c0023t0001	a0007c0023t0001g0187 a0007c0023t0001g0187	1	336	0.0030	c.248 others(4): Show c.2489A>T	p.Lys others(6): Show p.Lys830Met	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	21/26	2887/6271	2489/3243	830/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50314006	G G	A A	missense_variant missense_variant	MODERATE	NA18962.hp2 NA18983.hp2 NA18992.hp2 others(1): Show NA18962.hp2 NA18983.hp2 NA18992.hp2 NA19090.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0002 a0002c0007t0001g0131 a0002c0007t0001g0132 a0002c0007t0001g0002 a0002c0007t0001g0131 a0002c0007t0001g0132	4	336	0.0119	c.280 others(4): Show c.2800G>A	p.Gly others(6): Show p.Gly934Ser	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	23/26	3198/6271	2800/3243	934/1080	chr16	TogoVar
ADCY7_chr16_50261551_50323135	50315378	C C	T T	missense_variant missense_variant	MODERATE	NA18992.hp1 NA18992.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0002 a0011c0020t0002	a0011c0020t0002g0233 a0011c0020t0002g0233	1	336	0.0030	c.311 others(4): Show c.3116C>T	p.Thr others(7): Show p.Thr1039Ile	ADCY7	ENSG00000121281.13	transcript	ENST00000673801.1	protein_coding	26/26	3514/6271	3116/3243	1039/1080	chr16	TogoVar
ADCY8_chr8_130775301_131045909	131039868	T T	A A	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0003 a0003	a0003c0020 a0003c0021 a0003c0020 a0003c0021	a0003c0020t0002 a0003c0021t0001 a0003c0020t0002 a0003c0021t0001	a0003c0020t0002g0237 a0003c0021t0001g0238 a0003c0020t0002g0237 a0003c0021t0001g0238	2	244	0.0082	c.466 others(3): Show c.466A>T	p.Thr others(6): Show p.Thr156Ser	ADCY8	ENSG00000155897.10	transcript	ENST00000286355.10	protein_coding	1/18	1042/4421	466/3756	156/1251	chr8	TogoVar
ADCY8_chr8_130775301_131045909	131040096	C C	T T	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2	a0002 a0002	a0002c0012 a0002c0013 a0002c0012 a0002c0013	a0002c0012t0004 a0002c0013t0004 a0002c0012t0004 a0002c0013t0004	a0002c0012t0004g0009 a0002c0012t0004g0010 a0002c0013t0004g0011 a0002c0012t0004g0009 a0002c0012t0004g0010 a0002c0013t0004g0011	3	244	0.0123	c.238 others(3): Show c.238G>A	p.Ala others(5): Show p.Ala80Thr	ADCY8	ENSG00000155897.10	transcript	ENST00000286355.10	protein_coding	1/18	814/4421	238/3756	80/1251	chr8	TogoVar
ADCY9_chr16_3957653_4121442	3966194	C C	T T	missense_variant missense_variant	MODERATE	NA18995.hp1 NA18995.hp1	a0013 a0013	a0013c0044 a0013c0044	a0013c0044t0002 a0013c0044t0002	a0013c0044t0002g0289 a0013c0044t0002g0289	1	318	0.0031	c.364 others(4): Show c.3643G>A	p.Val others(7): Show p.Val1215Ile	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	11/11	4439/7980	3643/4062	1215/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	3966344	C C	T T	missense_variant missense_variant	MODERATE	HG03834.hp1 HG03834.hp1	a0010 a0010	a0010c0043 a0010c0043	a0010c0043t0003 a0010c0043t0003	a0010c0043t0003g0198 a0010c0043t0003g0198	1	318	0.0031	c.349 others(4): Show c.3493G>A	p.Val others(7): Show p.Val1165Ile	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	11/11	4289/7980	3493/4062	1165/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	3966376	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG01978.hp1 HG02004.hp1 others(4): Show HG00140.hp2 HG01978.hp1 HG02004.hp1 HG02886.hp1 HG03669.hp1 HG03704.hp1 HG04199.hp2	a0003 a0006 a0003 a0006	a0003c0017 a0003c0028 a0003c0029 others(2): Show a0003c0017 a0003c0028 a0003c0029 a0006c0049 a0006c0051	a0003c0017t0016 a0003c0017t0046 a0003c0028t0081 others(3): Show a0003c0017t0016 a0003c0017t0046 a0003c0028t0081 a0003c0029t0016 a0006c0049t0120 a0006c0051t0016	a0003c0017t0016g0194 a0003c0017t0016g0231 a0003c0017t0046g0008 others(4): Show a0003c0017t0016g0194 a0003c0017t0016g0231 a0003c0017t0046g0008 a0003c0028t0081g0083 a0003c0029t0016g0136 a0006c0049t0120g0300 a0006c0051t0016g0294	7	318	0.0220	c.346 others(4): Show c.3461A>G	p.Asn others(7): Show p.Asn1154Ser	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	11/11	4257/7980	3461/4062	1154/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	3966475	T T	C C	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0008 a0008	a0008c0040 a0008c0040	a0008c0040t0001 a0008c0040t0001	a0008c0040t0001g0298 a0008c0040t0001g0298	1	318	0.0031	c.336 others(4): Show c.3362A>G	p.Asn others(7): Show p.Asn1121Ser	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	11/11	4158/7980	3362/4062	1121/1353	chr16	TogoVar
ADCY9_chr16_3957653_4121442	3966542	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02055.hp1	a0007 a0007	a0007c0052 a0007c0052	a0007c0052t0001 a0007c0052t0001	a0007c0052t0001g0282 a0007c0052t0001g0282	1	318	0.0031	c.329 others(4): Show c.3295C>T	p.Pro others(7): Show p.Pro1099Ser	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	11/11	4091/7980	3295/4062	1099/1353	chr16	TogoVar

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