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
ACKR2_chr3_42804445_42872286	42865620	A A	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(140): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01433.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19065.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0003 a0002c0009 others(1): Show a0002c0002 a0002c0003 a0002c0009 a0004c0005	a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 others(12): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0002c0002t0010 a0002c0002t0012 a0002c0002t0014 a0002c0002t0019 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0003t0005 a0002c0003t0015 a0002c0009t0002 a0004c0005t0009	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 others(130): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0023 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0060 a0002c0002t0002g0065 a0002c0002t0002g0077 a0002c0002t0002g0080 a0002c0002t0002g0115 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0126 a0002c0002t0002g0181 a0002c0002t0002g0200 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0226 a0002c0002t0002g0229 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0246 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0285 a0002c0002t0002g0287 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0292 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0305 a0002c0002t0002g0307 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0317 a0002c0002t0004g0004 a0002c0002t0004g0013 a0002c0002t0004g0036 a0002c0002t0004g0043 a0002c0002t0004g0044 a0002c0002t0004g0045 a0002c0002t0004g0046 a0002c0002t0004g0047 a0002c0002t0004g0049 a0002c0002t0004g0068 a0002c0002t0004g0078 a0002c0002t0004g0096 a0002c0002t0004g0159 a0002c0002t0004g0227 a0002c0002t0004g0254 a0002c0002t0004g0271 a0002c0002t0004g0284 a0002c0002t0004g0297 a0002c0002t0009g0015 a0002c0002t0009g0094 a0002c0002t0009g0203 a0002c0002t0009g0204 a0002c0002t0010g0001 a0002c0002t0010g0004 a0002c0002t0010g0265 a0002c0002t0010g0270 a0002c0002t0010g0274 a0002c0002t0010g0298 a0002c0002t0012g0005 a0002c0002t0012g0194 a0002c0002t0014g0245 a0002c0002t0014g0291 a0002c0002t0019g0288 a0002c0002t0020g0286 a0002c0002t0021g0304 a0002c0002t0022g0249 a0002c0002t0023g0262 a0002c0003t0005g0021 a0002c0003t0005g0022 a0002c0003t0005g0056 a0002c0003t0005g0196 a0002c0003t0005g0236 a0002c0003t0005g0237 a0002c0003t0005g0238 a0002c0003t0005g0240 a0002c0003t0005g0242 a0002c0003t0015g0182 a0002c0003t0015g0183 a0002c0009t0002g0308 a0004c0005t0009g0026 a0004c0005t0009g0027	143	339	0.4218	c.111 others(4): Show c.1118A>C	p.Tyr others(6): Show p.Tyr373Ser	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	3/3	1324/2990	1118/1155	373/384	chr3	TogoVar
ACKR2_chr3_42804445_42872286	42865620	A A	T T	missense_variant missense_variant	MODERATE	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0172 a0002c0007t0007g0172	1	197	0.0051	c.111 others(4): Show c.1118A>T	p.Tyr others(6): Show p.Tyr373Phe	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	3/3	1324/2990	1118/1155	373/384	chr3	TogoVar
ACKR3_chr2_236564825_236587354	236580589	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0044 a0004c0008t0001g0044	1	392	0.0026	c.124 others(3): Show c.124G>A	p.Val others(5): Show p.Val42Ile	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	250/2015	124/1089	42/362	chr2	TogoVar
ACKR3_chr2_236564825_236587354	236580655	G G	C C	missense_variant missense_variant	MODERATE	HG02257.hp2 HG03139.hp1 HG02257.hp2 HG03139.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0024 a0003c0005t0001g0024	2	392	0.0051	c.190 others(3): Show c.190G>C	p.Val others(5): Show p.Val64Leu	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	316/2015	190/1089	64/362	chr2	TogoVar
ACKR3_chr2_236564825_236587354	236580701	C C	T T	missense_variant missense_variant	MODERATE	NA18992.hp2 NA18992.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0002 a0007c0013t0001g0002	1	392	0.0026	c.236 others(3): Show c.236C>T	p.Thr others(5): Show p.Thr79Met	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	362/2015	236/1089	79/362	chr2	TogoVar
ACKR3_chr2_236564825_236587354	236580755	T T	G G	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0072 a0006c0014t0001g0072	1	392	0.0026	c.290 others(3): Show c.290T>G	p.Ile others(5): Show p.Ile97Ser	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	416/2015	290/1089	97/362	chr2	TogoVar
ACKR3_chr2_236564825_236587354	236580763	T T	C C	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0072 a0006c0014t0001g0072	1	392	0.0026	c.298 others(3): Show c.298T>C	p.Trp others(6): Show p.Trp100Arg	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	424/2015	298/1089	100/362	chr2	TogoVar
ACKR3_chr2_236564825_236587354	236580766	G G	C C	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0072 a0006c0014t0001g0072	1	392	0.0026	c.301 others(3): Show c.301G>C	p.Val others(6): Show p.Val101Leu	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	427/2015	301/1089	101/362	chr2	TogoVar
ACKR3_chr2_236564825_236587354	236580802	G G	A A	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0072 a0006c0014t0001g0072	1	392	0.0026	c.337 others(3): Show c.337G>A	p.Gly others(6): Show p.Gly113Ser	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	463/2015	337/1089	113/362	chr2	TogoVar
ACKR3_chr2_236564825_236587354	236580805	G G	A A	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0072 a0006c0014t0001g0072	1	392	0.0026	c.340 others(3): Show c.340G>A	p.Glu others(6): Show p.Glu114Lys	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	466/2015	340/1089	114/362	chr2	TogoVar
ACKR3_chr2_236564825_236587354	236581150	G G	A A	missense_variant missense_variant	MODERATE	HG00558.hp1 HG00558.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0001 a0005c0009t0001g0001	1	392	0.0026	c.685 others(3): Show c.685G>A	p.Ala others(6): Show p.Ala229Thr	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	811/2015	685/1089	229/362	chr2	TogoVar
ACKR3_chr2_236564825_236587354	236581153	G G	A A	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02896.hp2 HG02922.hp2 others(2): Show HG02280.hp2 HG02896.hp2 HG02922.hp2 NA20129.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0023 a0002c0004t0001g0067 a0002c0004t0001g0110 a0002c0004t0001g0023 a0002c0004t0001g0067 a0002c0004t0001g0110	5	392	0.0128	c.688 others(3): Show c.688G>A	p.Val others(6): Show p.Val230Ile	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	814/2015	688/1089	230/362	chr2	TogoVar
ACKR4_chr3_132592270_132607644	132600629	G G	C C	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02257.hp2 HG03579.hp1 HG02055.hp1 HG02257.hp2 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0003 a0002c0004t0002g0003	3	356	0.0084	c.232 others(3): Show c.232G>C	p.Val others(5): Show p.Val78Leu	ACKR4	ENSG00000129048.7	transcript	ENST00000249887.3	protein_coding	2/2	295/2310	232/1053	78/350	chr3	TogoVar
ACKR4_chr3_132592270_132607644	132600853	A A	C C	missense_variant missense_variant	MODERATE	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0001 a0003c0006t0005g0001	1	356	0.0028	c.456 others(3): Show c.456A>C	p.Lys others(6): Show p.Lys152Asn	ACKR4	ENSG00000129048.7	transcript	ENST00000249887.3	protein_coding	2/2	519/2310	456/1053	152/350	chr3	TogoVar
ACKR4_chr3_132592270_132607644	132600960	T T	C C	missense_variant missense_variant	MODERATE	NA18984.hp2 NA18984.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	1	356	0.0028	c.563 others(3): Show c.563T>C	p.Phe others(6): Show p.Phe188Ser	ACKR4	ENSG00000129048.7	transcript	ENST00000249887.3	protein_coding	2/2	626/2310	563/1053	188/350	chr3	TogoVar
ACLY_chr17_41861918_41923951	41869526	G G	T T	missense_variant missense_variant	MODERATE	NA18946.hp2 NA18946.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0003 a0005c0014t0003	a0005c0014t0003g0289 a0005c0014t0003g0289	1	292	0.0034	c.299 others(4): Show c.2999C>A	p.Ala others(7): Show p.Ala1000Asp	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	26/29	3094/4293	2999/3306	1000/1101	chr17	TogoVar
ACLY_chr17_41861918_41923951	41878167	C C	T T	missense_variant missense_variant	MODERATE	NA19085.hp1 NA19085.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0065 a0007c0008t0001g0065	1	292	0.0034	c.242 others(4): Show c.2423G>A	p.Gly others(6): Show p.Gly808Glu	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	22/29	2518/4293	2423/3306	808/1101	chr17	TogoVar
ACLY_chr17_41861918_41923951	41878168	C C	T T	missense_variant missense_variant	MODERATE	NA19085.hp1 NA19085.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0065 a0007c0008t0001g0065	1	292	0.0034	c.242 others(4): Show c.2422G>A	p.Gly others(6): Show p.Gly808Arg	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	22/29	2517/4293	2422/3306	808/1101	chr17	TogoVar
ACLY_chr17_41861918_41923951	41883226	C C	A A	missense_variant missense_variant	MODERATE	NA19005.hp2 NA19005.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0090 a0006c0011t0001g0090	1	292	0.0034	c.216 others(4): Show c.2161G>T	p.Gly others(6): Show p.Gly721Cys	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/29	2256/4293	2161/3306	721/1101	chr17	TogoVar
ACLY_chr17_41861918_41923951	41893067	C C	T T	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0028 a0003c0006t0001g0028	1	292	0.0034	c.156 others(4): Show c.1567G>A	p.Glu others(6): Show p.Glu523Lys	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	15/29	1662/4293	1567/3306	523/1101	chr17	TogoVar
ACLY_chr17_41861918_41923951	41907536	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03130.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0217 a0004c0013t0001g0217	1	292	0.0034	c.653 others(3): Show c.653C>T	p.Ala others(6): Show p.Ala218Val	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	7/29	748/4293	653/3306	218/1101	chr17	TogoVar
ACLY_chr17_41861918_41923951	41909521	T T	G G	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00673.hp2 HG00733.hp2 others(37): Show HG00280.hp2 HG00673.hp2 HG00733.hp2 HG01069.hp1 HG01106.hp1 HG01243.hp1 HG01346.hp1 HG01361.hp2 HG01884.hp2 HG02015.hp2 HG02055.hp2 HG02523.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02895.hp2 HG02896.hp2 HG03017.hp2 HG03130.hp1 HG03490.hp2 HG04115.hp1 HG06807.hp1 NA18943.hp2 NA18946.hp2 NA18952.hp1 NA18957.hp1 NA18964.hp2 NA18968.hp2 NA18979.hp1 NA18985.hp1 NA18986.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19003.hp2 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA19240.hp2 NA21309.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0014 a0002c0002 a0005c0014	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0005c0014t0003	a0002c0002t0001g0054 a0002c0002t0002g0055 a0002c0002t0002g0190 others(37): Show a0002c0002t0001g0054 a0002c0002t0002g0055 a0002c0002t0002g0190 a0002c0002t0002g0252 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0268 a0002c0002t0003g0269 a0002c0002t0003g0270 a0002c0002t0003g0271 a0002c0002t0003g0272 a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0275 a0002c0002t0003g0276 a0002c0002t0003g0277 a0002c0002t0003g0278 a0002c0002t0003g0279 a0002c0002t0003g0280 a0002c0002t0003g0281 a0002c0002t0003g0282 a0002c0002t0003g0283 a0002c0002t0003g0284 a0002c0002t0003g0285 a0002c0002t0003g0286 a0002c0002t0003g0287 a0002c0002t0003g0288 a0002c0002t0003g0290 a0002c0002t0003g0292 a0002c0002t0006g0012 a0002c0002t0006g0032 a0002c0002t0006g0033 a0002c0002t0008g0266 a0002c0002t0008g0267 a0002c0002t0009g0011 a0002c0002t0010g0263 a0005c0014t0003g0289	40	292	0.1370	c.525 others(3): Show c.525A>C	p.Glu others(6): Show p.Glu175Asp	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	5/29	620/4293	525/3306	175/1101	chr17	TogoVar
ACMSD_chr2_134833616_134907034	134845277	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02027.hp2 HG02027.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0115 a0005c0010t0001g0115	1	380	0.0026	c.102 others(3): Show c.102G>T	p.Lys others(5): Show p.Lys34Asn	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	2/10	169/1252	102/1011	34/336	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134859307	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp2 HG03225.hp2 HG03486.hp1 others(1): Show HG02145.hp2 HG03225.hp2 HG03486.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0197 a0002c0002t0001g0201 others(1): Show a0002c0002t0001g0026 a0002c0002t0001g0197 a0002c0002t0001g0201 a0002c0002t0001g0202	4	380	0.0105	c.149 others(3): Show c.149G>A	p.Arg others(5): Show p.Arg50Gln	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	3/10	216/1252	149/1011	50/336	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134859321	G G	C C	missense_variant missense_variant	MODERATE	NA18952.hp2 NA18988.hp2 NA18952.hp2 NA18988.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0146 a0004c0005t0001g0222 a0004c0005t0001g0146 a0004c0005t0001g0222	2	380	0.0053	c.163 others(3): Show c.163G>C	p.Asp others(5): Show p.Asp55His	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	3/10	230/1252	163/1011	55/336	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134870986	T T	C C	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02040.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0239 a0006c0006t0001g0239	1	380	0.0026	c.602 others(3): Show c.602T>C	p.Ile others(6): Show p.Ile201Thr	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	7/10	669/1252	602/1011	201/336	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134871015	G G	A A	missense_variant missense_variant	MODERATE	HG02155.hp2 HG02155.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0205 a0007c0007t0001g0205	1	380	0.0026	c.631 others(3): Show c.631G>A	p.Val others(6): Show p.Val211Ile	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	7/10	698/1252	631/1011	211/336	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134901813	G G	A A	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02809.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0327 a0008c0008t0001g0327	1	380	0.0026	c.964 others(3): Show c.964G>A	p.Gly others(6): Show p.Gly322Ser	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	10/10	1031/1252	964/1011	322/336	chr2	TogoVar
ACO1_chr9_32379643_32459769	32405569	C C	A A	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0015 a0010c0013t0015	a0010c0013t0015g0036 a0010c0013t0015g0036	1	380	0.0026	c.63C others(2): Show c.63C>A	p.Phe others(5): Show p.Phe21Leu	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	2/21	178/7443	63/2670	21/889	chr9	TogoVar
ACO1_chr9_32379643_32459769	32407264	G G	A A	missense_variant missense_variant	MODERATE	HG02040.hp1 HG02040.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0012 a0008c0014t0012	a0008c0014t0012g0250 a0008c0014t0012g0250	1	380	0.0026	c.101 others(3): Show c.101G>A	p.Arg others(5): Show p.Arg34His	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	3/21	216/7443	101/2670	34/889	chr9	TogoVar
ACO1_chr9_32379643_32459769	32407386	G G	A A	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0289 a0013c0015t0001g0289	1	380	0.0026	c.223 others(3): Show c.223G>A	p.Glu others(5): Show p.Glu75Lys	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	3/21	338/7443	223/2670	75/889	chr9	TogoVar
ACO1_chr9_32379643_32459769	32408634	G G	C C	missense_variant missense_variant	MODERATE	NA19068.hp2 NA19068.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0012 a0012c0016t0012	a0012c0016t0012g0010 a0012c0016t0012g0010	1	380	0.0026	c.387 others(3): Show c.387G>C	p.Gln others(6): Show p.Gln129His	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	4/21	502/7443	387/2670	129/889	chr9	TogoVar
ACO1_chr9_32379643_32459769	32418421	T T	C C	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0100 a0009c0017t0100	a0009c0017t0100g0132 a0009c0017t0100g0132	1	380	0.0026	c.568 others(3): Show c.568T>C	p.Phe others(6): Show p.Phe190Leu	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	6/21	683/7443	568/2670	190/889	chr9	TogoVar
ACO1_chr9_32379643_32459769	32421010	C C	T T	missense_variant missense_variant	MODERATE	NA18961.hp2 NA18961.hp2	a0011 a0011	a0011c0029 a0011c0029	a0011c0029t0002 a0011c0029t0002	a0011c0029t0002g0003 a0011c0029t0002g0003	1	380	0.0026	c.953 others(3): Show c.953C>T	p.Thr others(6): Show p.Thr318Met	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	8/21	1068/7443	953/2670	318/889	chr9	TogoVar
ACO1_chr9_32379643_32459769	32423388	A A	G G	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0009 a0005c0012t0009	a0005c0012t0009g0027 a0005c0012t0009g0027	2	380	0.0053	c.104 others(4): Show c.1040A>G	p.Asn others(6): Show p.Asn347Ser	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	9/21	1155/7443	1040/2670	347/889	chr9	TogoVar
ACO1_chr9_32379643_32459769	32423393	C C	T T	missense_variant missense_variant	MODERATE	HG01358.hp2 HG01358.hp2	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0007 a0007c0028t0007	a0007c0028t0007g0266 a0007c0028t0007g0266	1	380	0.0026	c.104 others(4): Show c.1045C>T	p.Pro others(6): Show p.Pro349Ser	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	9/21	1160/7443	1045/2670	349/889	chr9	TogoVar
ACO1_chr9_32379643_32459769	32424661	C C	A A	missense_variant missense_variant	MODERATE	HG00673.hp2 HG02074.hp1 HG02132.hp2 others(5): Show HG00673.hp2 HG02074.hp1 HG02132.hp2 NA18942.hp1 NA18946.hp2 NA18990.hp2 NA19057.hp2 NA19074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0017 a0003c0003t0038 a0003c0003t0004 a0003c0003t0017 a0003c0003t0038	a0003c0003t0004g0207 a0003c0003t0017g0162 a0003c0003t0017g0183 others(4): Show a0003c0003t0004g0207 a0003c0003t0017g0162 a0003c0003t0017g0183 a0003c0003t0017g0189 a0003c0003t0017g0199 a0003c0003t0017g0208 a0003c0003t0038g0001	8	380	0.0211	c.118 others(4): Show c.1184C>A	p.Ala others(6): Show p.Ala395Asp	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	10/21	1299/7443	1184/2670	395/889	chr9	TogoVar
ACO1_chr9_32379643_32459769	32427408	G G	A A	missense_variant missense_variant	MODERATE	HG01070.hp2 HG01071.hp1 HG01891.hp1 others(11): Show HG01070.hp2 HG01071.hp1 HG01891.hp1 HG01891.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 NA20129.hp1	a0002 a0009 a0002 a0009	a0002c0004 a0002c0007 a0009c0017 a0002c0004 a0002c0007 a0009c0017	a0002c0004t0001 a0002c0004t0014 a0002c0004t0023 others(6): Show a0002c0004t0001 a0002c0004t0014 a0002c0004t0023 a0002c0004t0064 a0002c0007t0031 a0002c0007t0032 a0002c0007t0062 a0002c0007t0063 a0009c0017t0100	a0002c0004t0001g0135 a0002c0004t0001g0137 a0002c0004t0014g0136 others(9): Show a0002c0004t0001g0135 a0002c0004t0001g0137 a0002c0004t0014g0136 a0002c0004t0023g0008 a0002c0004t0023g0158 a0002c0004t0064g0221 a0002c0007t0031g0096 a0002c0007t0031g0312 a0002c0007t0032g0097 a0002c0007t0062g0093 a0002c0007t0063g0094 a0009c0017t0100g0132	14	380	0.0368	c.145 others(4): Show c.1456G>A	p.Gly others(6): Show p.Gly486Arg	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	12/21	1571/7443	1456/2670	486/889	chr9	TogoVar
ACO1_chr9_32379643_32459769	32431730	A A	C C	missense_variant missense_variant	MODERATE	HG03139.hp1 NA18906.hp2 NA19240.hp2 HG03139.hp1 NA18906.hp2 NA19240.hp2	a0004 a0004	a0004c0009 a0004c0027 a0004c0009 a0004c0027	a0004c0009t0024 a0004c0009t0049 a0004c0027t0024 a0004c0009t0024 a0004c0009t0049 a0004c0027t0024	a0004c0009t0024g0196 a0004c0009t0049g0084 a0004c0027t0024g0215 a0004c0009t0024g0196 a0004c0009t0049g0084 a0004c0027t0024g0215	3	380	0.0079	c.173 others(4): Show c.1738A>C	p.Lys others(6): Show p.Lys580Gln	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	15/21	1853/7443	1738/2670	580/889	chr9	TogoVar
ACO1_chr9_32379643_32459769	32449002	C C	A A	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00558.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0186 a0006c0020t0001g0186	1	380	0.0026	c.247 others(4): Show c.2477C>A	p.Ala others(6): Show p.Ala826Asp	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	20/21	2592/7443	2477/2670	826/889	chr9	TogoVar
ACO1_chr9_32379643_32459769	32450028	A A	T T	missense_variant missense_variant	MODERATE	NA19081.hp2 NA19081.hp2	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0042 a0014c0024t0042	a0014c0024t0042g0121 a0014c0024t0042g0121	1	380	0.0026	c.258 others(4): Show c.2587A>T	p.Met others(6): Show p.Met863Leu	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	21/21	2702/7443	2587/2670	863/889	chr9	TogoVar
ACO1_chr9_32379643_32459769	32450094	C C	T T	missense_variant missense_variant	MODERATE	NA19088.hp1 NA19088.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0018 a0015c0021t0018	a0015c0021t0018g0002 a0015c0021t0018g0002	1	380	0.0026	c.265 others(4): Show c.2653C>T	p.Arg others(6): Show p.Arg885Cys	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	21/21	2768/7443	2653/2670	885/889	chr9	TogoVar
ACO2_chr22_41464117_41533974	41507854	C C	A A	missense_variant missense_variant	MODERATE	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0046 a0003c0007t0001g0046	1	332	0.0030	c.237 others(3): Show c.237C>A	p.Ser others(5): Show p.Ser79Arg	ACO2	ENSG00000100412.17	transcript	ENST00000216254.9	protein_coding	3/18	267/2734	237/2343	79/780	chr22	TogoVar
ACO2_chr22_41464117_41533974	41523846	G G	T T	missense_variant missense_variant	MODERATE	NA18995.hp2 NA18995.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0260 a0004c0011t0001g0260	1	332	0.0030	c.138 others(4): Show c.1387G>T	p.Gly others(6): Show p.Gly463Trp	ACO2	ENSG00000100412.17	transcript	ENST00000216254.9	protein_coding	12/18	1417/2734	1387/2343	463/780	chr22	TogoVar
ACO2_chr22_41464117_41533974	41528548	G G	A A	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0159 a0002c0008t0001g0159	1	332	0.0030	c.227 others(4): Show c.2278G>A	p.Glu others(6): Show p.Glu760Lys	ACO2	ENSG00000100412.17	transcript	ENST00000216254.9	protein_coding	18/18	2308/2734	2278/2343	760/780	chr22	TogoVar
ACOD1_chr13_76943511_76963638	76955509	A A	G G	missense_variant missense_variant	MODERATE	HG00735.hp1 HG01099.hp1 HG01109.hp2 others(17): Show HG00735.hp1 HG01099.hp1 HG01109.hp2 HG01884.hp1 HG02615.hp2 HG02622.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0012 a0002c0003 a0002c0012	a0002c0003t0001 a0002c0012t0001 a0002c0003t0001 a0002c0012t0001	a0002c0003t0001g0012 a0002c0003t0001g0016 a0002c0003t0001g0021 others(5): Show a0002c0003t0001g0012 a0002c0003t0001g0016 a0002c0003t0001g0021 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0059 a0002c0003t0001g0078 a0002c0012t0001g0016	20	432	0.0463	c.455 others(3): Show c.455A>G	p.Asn others(6): Show p.Asn152Ser	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding	4/5	503/2147	455/1446	152/481	chr13	TogoVar
ACOD1_chr13_76943511_76963638	76957026	G G	A A	missense_variant missense_variant	MODERATE	HG01516.hp2 HG01516.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0001 a0004c0007t0001g0001	1	432	0.0023	c.487 others(3): Show c.487G>A	p.Val others(6): Show p.Val163Met	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding	5/5	535/2147	487/1446	163/481	chr13	TogoVar
ACOD1_chr13_76943511_76963638	76957357	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp1 HG03098.hp1 HG02145.hp1 HG03098.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0054 a0003c0006t0001g0055 a0003c0006t0001g0054 a0003c0006t0001g0055	2	432	0.0046	c.818 others(3): Show c.818G>A	p.Arg others(6): Show p.Arg273His	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding	5/5	866/2147	818/1446	273/481	chr13	TogoVar
ACOD1_chr13_76943511_76963638	76957660	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0081 a0005c0011t0001g0081	1	432	0.0023	c.112 others(4): Show c.1121C>T	p.Pro others(6): Show p.Pro374Leu	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding	5/5	1169/2147	1121/1446	374/481	chr13	TogoVar
ACOD1_chr13_76943511_76963638	76957858	A A	C C	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0001 a0006c0010t0001g0001	1	432	0.0023	c.131 others(4): Show c.1319A>C	p.Lys others(6): Show p.Lys440Thr	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding	5/5	1367/2147	1319/1446	440/481	chr13	TogoVar

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