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
AFM_chr4_73476745_73509001	73492080	T T	C C	missense_variant missense_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0001 a0011c0012t0001g0001	1	366	0.0027	c.105 others(4): Show c.1052T>C	p.Phe others(6): Show p.Phe351Ser	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	8/15	1083/1997	1052/1800	351/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73495425	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG01123.hp1 HG01433.hp1 others(17): Show HG00140.hp2 HG01123.hp1 HG01433.hp1 HG01516.hp2 HG02027.hp2 HG02056.hp2 HG02145.hp1 HG02647.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp1 HG03486.hp2 HG03540.hp2 HG03688.hp1 HG04199.hp2 HG04204.hp2 NA18942.hp1 NA19240.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0015 a0002c0002 a0002c0015	a0002c0002t0001 a0002c0015t0001 a0002c0002t0001 a0002c0015t0001	a0002c0002t0001g0016 a0002c0002t0001g0025 a0002c0002t0001g0026 others(13): Show a0002c0002t0001g0016 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0015t0001g0070	20	366	0.0546	c.118 others(4): Show c.1184G>A	p.Arg others(6): Show p.Arg395His	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	9/15	1215/1997	1184/1800	395/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73497670	A A	T T	missense_variant missense_variant	MODERATE	NA18947.hp2 NA18970.hp1 NA18974.hp2 others(2): Show NA18947.hp2 NA18970.hp1 NA18974.hp2 NA18991.hp2 NA19065.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0003 a0003c0003t0001g0005 others(1): Show a0003c0003t0001g0001 a0003c0003t0001g0003 a0003c0003t0001g0005 a0003c0003t0001g0032	5	366	0.0137	c.121 others(4): Show c.1210A>T	p.Thr others(6): Show p.Thr404Ser	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	10/15	1241/1997	1210/1800	404/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73499188	T T	A A	missense_variant missense_variant	MODERATE	NA18981.hp2 NA18981.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0030 a0012c0013t0001g0030	1	366	0.0027	c.136 others(4): Show c.1364T>A	p.Val others(6): Show p.Val455Glu	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	11/15	1395/1997	1364/1800	455/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73499229	G G	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0146 a0013c0014t0001g0146	1	366	0.0027	c.140 others(4): Show c.1405G>A	p.Ala others(6): Show p.Ala469Thr	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	11/15	1436/1997	1405/1800	469/599	chr4	TogoVar
AFP_chr4_73431221_73461174	73440656	G G	C C	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0063 a0007c0010t0001g0063	1	388	0.0026	c.325 others(3): Show c.325G>C	p.Gly others(6): Show p.Gly109Arg	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	4/15	367/2426	325/1830	109/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73442372	A A	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG01433.hp1 HG00140.hp1 HG01433.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0004 a0004c0009t0002g0004	2	388	0.0052	c.559 others(3): Show c.559A>C	p.Lys others(6): Show p.Lys187Gln	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	5/15	601/2426	559/1830	187/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73443395	C C	A A	missense_variant missense_variant	MODERATE	NA19086.hp1 NA19086.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0002 a0011c0011t0002	a0011c0011t0002g0020 a0011c0011t0002g0020	1	388	0.0026	c.664 others(3): Show c.664C>A	p.His others(6): Show p.His222Asn	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	6/15	706/2426	664/1830	222/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73445051	C C	G G	missense_variant missense_variant	MODERATE	HG01256.hp1 HG02738.hp2 HG03688.hp1 HG01256.hp1 HG02738.hp2 HG03688.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0012 a0003c0006t0002g0012	3	388	0.0077	c.772 others(3): Show c.772C>G	p.Leu others(6): Show p.Leu258Val	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	7/15	814/2426	772/1830	258/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73445057	C C	G G	missense_variant missense_variant	MODERATE	NA18984.hp2 NA18984.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0008 a0009c0016t0001g0008	1	388	0.0026	c.778 others(3): Show c.778C>G	p.Leu others(6): Show p.Leu260Val	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	7/15	820/2426	778/1830	260/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73449423	A A	C C	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0079 a0010c0015t0002g0079	1	388	0.0026	c.114 others(4): Show c.1147A>C	p.Lys others(6): Show p.Lys383Gln	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	9/15	1189/2426	1147/1830	383/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73450677	C C	T T	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp2 HG03098.hp1 HG03098.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0012 a0006c0007t0002g0103 a0006c0007t0002g0012 a0006c0007t0002g0103	2	388	0.0052	c.135 others(4): Show c.1352C>T	p.Thr others(6): Show p.Thr451Ile	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	11/15	1394/2426	1352/1830	451/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73452612	C C	T T	missense_variant missense_variant	MODERATE	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0108 a0008c0012t0002g0108	1	388	0.0026	c.164 others(4): Show c.1640C>T	p.Thr others(6): Show p.Thr547Ile	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	12/15	1682/2426	1640/1830	547/609	chr4	TogoVar
AFP_chr4_73431221_73461174	73453821	C C	G G	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01891.hp1 HG01891.hp2 others(21): Show HG01109.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG04115.hp1 NA19030.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0015 a0002c0002 a0010c0015	a0002c0002t0002 a0010c0015t0002 a0002c0002t0002 a0010c0015t0002	a0002c0002t0002g0002 a0002c0002t0002g0018 a0002c0002t0002g0023 others(9): Show a0002c0002t0002g0002 a0002c0002t0002g0018 a0002c0002t0002g0023 a0002c0002t0002g0026 a0002c0002t0002g0036 a0002c0002t0002g0039 a0002c0002t0002g0064 a0002c0002t0002g0084 a0002c0002t0002g0095 a0002c0002t0002g0106 a0002c0002t0002g0113 a0010c0015t0002g0079	24	388	0.0619	c.170 others(4): Show c.1709C>G	p.Ala others(6): Show p.Ala570Gly	AFP	ENSG00000081051.8	transcript	ENST00000395792.7	protein_coding	13/15	1751/2426	1709/1830	570/609	chr4	TogoVar
AFTPH_chr2_64519328_64598005	64552061	G G	A A	missense_variant missense_variant	MODERATE	HG03017.hp2 HG03017.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0004 a0009c0009t0004	a0009c0009t0004g0071 a0009c0009t0004g0071	1	370	0.0027	c.587 others(3): Show c.587G>A	p.Gly others(6): Show p.Gly196Glu	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	2/10	904/4098	587/2811	196/936	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64552187	C C	T T	missense_variant missense_variant	MODERATE	HG02886.hp2 HG02886.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0003 a0008c0017t0003	a0008c0017t0003g0326 a0008c0017t0003g0326	1	370	0.0027	c.713 others(3): Show c.713C>T	p.Ser others(6): Show p.Ser238Phe	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	2/10	1030/4098	713/2811	238/936	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64552318	G G	A A	missense_variant missense_variant	MODERATE	NA18981.hp2 NA19077.hp2 NA19083.hp1 others(1): Show NA18981.hp2 NA19077.hp2 NA19083.hp1 NA19086.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0132 a0004c0004t0001g0221 a0004c0004t0001g0223 others(1): Show a0004c0004t0001g0132 a0004c0004t0001g0221 a0004c0004t0001g0223 a0004c0004t0001g0225	4	370	0.0108	c.844 others(3): Show c.844G>A	p.Gly others(6): Show p.Gly282Ser	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	2/10	1161/4098	844/2811	282/936	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64552375	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(88): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00673.hp2 HG01891.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03540.hp1 HG03654.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18946.hp2 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18994.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0008	a0002c0002 a0002c0010 a0005c0007 others(3): Show a0002c0002 a0002c0010 a0005c0007 a0005c0008 a0006c0006 a0008c0017	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0010 a0002c0002t0019 a0002c0010t0016 a0005c0007t0002 a0005c0007t0009 a0005c0008t0005 a0006c0006t0002 a0008c0017t0003	a0002c0002t0001g0004 a0002c0002t0001g0312 a0002c0002t0001g0313 others(86): Show a0002c0002t0001g0004 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0002g0005 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0281 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0292 a0002c0002t0002g0297 a0002c0002t0002g0302 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0327 a0002c0002t0002g0333 a0002c0002t0002g0334 a0002c0002t0002g0335 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0002g0347 a0002c0002t0002g0348 a0002c0002t0002g0350 a0002c0002t0002g0351 a0002c0002t0002g0352 a0002c0002t0002g0353 a0002c0002t0002g0355 a0002c0002t0002g0356 a0002c0002t0002g0357 a0002c0002t0002g0358 a0002c0002t0002g0359 a0002c0002t0002g0361 a0002c0002t0002g0362 a0002c0002t0002g0365 a0002c0002t0002g0366 a0002c0002t0003g0280 a0002c0002t0003g0287 a0002c0002t0003g0288 a0002c0002t0003g0289 a0002c0002t0003g0290 a0002c0002t0003g0291 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0295 a0002c0002t0003g0296 a0002c0002t0003g0298 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0303 a0002c0002t0003g0304 a0002c0002t0003g0305 a0002c0002t0003g0308 a0002c0002t0003g0320 a0002c0002t0003g0321 a0002c0002t0003g0322 a0002c0002t0003g0324 a0002c0002t0003g0328 a0002c0002t0003g0329 a0002c0002t0003g0330 a0002c0002t0009g0282 a0002c0002t0009g0325 a0002c0002t0010g0323 a0002c0002t0019g0360 a0002c0010t0016g0317 a0005c0007t0002g0354 a0005c0007t0009g0331 a0005c0008t0005g0279 a0006c0006t0002g0343 a0006c0006t0002g0349 a0008c0017t0003g0326	91	370	0.2459	c.901 others(3): Show c.901G>A	p.Glu others(6): Show p.Glu301Lys	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	2/10	1218/4098	901/2811	301/936	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64552492	T T	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02970.hp1 others(2): Show HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03225.hp2 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0232 a0003c0003t0008g0263 a0003c0003t0008g0264 others(2): Show a0003c0003t0008g0232 a0003c0003t0008g0263 a0003c0003t0008g0264 a0003c0003t0008g0265 a0003c0003t0008g0266	5	370	0.0135	c.101 others(4): Show c.1018T>C	p.Ser others(6): Show p.Ser340Pro	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	2/10	1335/4098	1018/2811	340/936	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64552528	T T	C C	missense_variant missense_variant	MODERATE	HG03486.hp1 HG03486.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0233 a0011c0011t0001g0233	1	370	0.0027	c.105 others(4): Show c.1054T>C	p.Cys others(6): Show p.Cys352Arg	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	2/10	1371/4098	1054/2811	352/936	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64553123	A A	G G	missense_variant missense_variant	MODERATE	HG03486.hp2 NA18946.hp2 NA19055.hp2 HG03486.hp2 NA18946.hp2 NA19055.hp2	a0005 a0005	a0005c0007 a0005c0008 a0005c0007 a0005c0008	a0005c0007t0002 a0005c0007t0009 a0005c0008t0005 a0005c0007t0002 a0005c0007t0009 a0005c0008t0005	a0005c0007t0002g0354 a0005c0007t0009g0331 a0005c0008t0005g0279 a0005c0007t0002g0354 a0005c0007t0009g0331 a0005c0008t0005g0279	3	370	0.0081	c.164 others(4): Show c.1649A>G	p.Asn others(6): Show p.Asn550Ser	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	2/10	1966/4098	1649/2811	550/936	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64553225	C C	G G	missense_variant missense_variant	MODERATE	HG02004.hp1 HG02004.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0155 a0007c0015t0001g0155	1	370	0.0027	c.175 others(4): Show c.1751C>G	p.Ser others(6): Show p.Ser584Cys	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	2/10	2068/4098	1751/2811	584/936	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64553337	C C	G G	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0241 a0012c0014t0001g0241	1	370	0.0027	c.186 others(4): Show c.1863C>G	p.His others(6): Show p.His621Gln	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	2/10	2180/4098	1863/2811	621/936	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64581253	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp2 NA19011.hp2 HG00408.hp2 NA19011.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0343 a0006c0006t0002g0349 a0006c0006t0002g0343 a0006c0006t0002g0349	2	370	0.0054	c.251 others(4): Show c.2519G>A	p.Ser others(6): Show p.Ser840Asn	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	8/10	2836/4098	2519/2811	840/936	chr2	TogoVar
AFTPH_chr2_64519328_64598005	64592009	A A	C C	missense_variant missense_variant	MODERATE	HG03195.hp2 HG03195.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0017 a0010c0013t0017	a0010c0013t0017g0268 a0010c0013t0017g0268	1	370	0.0027	c.278 others(4): Show c.2785A>C	p.Ser others(6): Show p.Ser929Arg	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	10/10	3102/4098	2785/2811	929/936	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235744764	G G	A A	missense_variant missense_variant	MODERATE	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0079 a0003c0015t0002g0079	1	98	0.0102	c.463 others(3): Show c.463G>A	p.Val others(6): Show p.Val155Ile	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	5/18	1107/10889	463/2574	155/857	chr2	TogoVar
AGAP1_chr2_235489043_236136793	236049178	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00741.hp1 HG01106.hp1 others(79): Show HG00438.hp1 HG00741.hp1 HG01106.hp1 HG01123.hp2 HG01192.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0021 a0003c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(57): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0044 a0001c0001t0048 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0013 a0001c0002t0014 a0001c0002t0032 a0001c0002t0034 a0001c0002t0038 a0001c0002t0039 a0001c0002t0042 a0001c0002t0043 a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 a0001c0003t0012 a0001c0003t0020 a0001c0003t0021 a0001c0003t0022 a0001c0003t0025 a0001c0003t0047 a0001c0005t0001 a0001c0005t0004 a0001c0005t0013 a0001c0005t0031 a0001c0005t0040 a0001c0006t0001 a0001c0006t0006 a0001c0006t0033 a0001c0006t0035 a0001c0006t0037 a0001c0006t0046 a0001c0008t0001 a0001c0008t0028 a0001c0009t0015 a0001c0009t0017 a0001c0010t0001 a0001c0011t0036 a0001c0012t0009 a0001c0014t0016 a0001c0016t0007 a0001c0017t0008 a0001c0018t0049 a0001c0019t0007 a0001c0021t0002 a0003c0015t0002	a0001c0001t0002g0002 a0001c0001t0002g0046 a0001c0001t0002g0047 others(79): Show a0001c0001t0002g0002 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0060 a0001c0001t0002g0070 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0001t0005g0007 a0001c0001t0005g0012 a0001c0001t0007g0008 a0001c0001t0008g0069 a0001c0001t0009g0078 a0001c0001t0010g0003 a0001c0001t0010g0014 a0001c0001t0011g0020 a0001c0001t0011g0098 a0001c0001t0012g0071 a0001c0001t0019g0065 a0001c0001t0024g0074 a0001c0001t0026g0095 a0001c0001t0027g0062 a0001c0001t0044g0041 a0001c0001t0048g0054 a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0018 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0068 a0001c0002t0001g0076 a0001c0002t0004g0072 a0001c0002t0004g0077 a0001c0002t0006g0093 a0001c0002t0013g0035 a0001c0002t0014g0052 a0001c0002t0014g0073 a0001c0002t0032g0051 a0001c0002t0034g0084 a0001c0002t0038g0086 a0001c0002t0039g0059 a0001c0002t0042g0067 a0001c0002t0043g0064 a0001c0003t0002g0005 a0001c0003t0003g0001 a0001c0003t0009g0096 a0001c0003t0012g0066 a0001c0003t0020g0053 a0001c0003t0021g0023 a0001c0003t0022g0055 a0001c0003t0025g0015 a0001c0003t0047g0033 a0001c0005t0001g0057 a0001c0005t0004g0058 a0001c0005t0004g0088 a0001c0005t0004g0097 a0001c0005t0013g0050 a0001c0005t0031g0031 a0001c0005t0040g0006 a0001c0006t0001g0016 a0001c0006t0006g0019 a0001c0006t0033g0087 a0001c0006t0035g0044 a0001c0006t0037g0021 a0001c0006t0046g0040 a0001c0008t0001g0061 a0001c0008t0028g0029 a0001c0009t0015g0038 a0001c0009t0017g0037 a0001c0010t0001g0032 a0001c0011t0036g0009 a0001c0012t0009g0075 a0001c0014t0016g0048 a0001c0016t0007g0089 a0001c0017t0008g0092 a0001c0018t0049g0080 a0001c0019t0007g0056 a0001c0021t0002g0091 a0003c0015t0002g0079	82	98	0.8367	c.201 others(4): Show c.2011G>A	p.Val others(6): Show p.Val671Ile	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	16/18	2655/10889	2011/2574	671/857	chr2	TogoVar
AGAP2_chr12_57720197_57743742	57726626	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01884.hp2 HG02809.hp2 others(7): Show HG01109.hp1 HG01884.hp2 HG02809.hp2 HG03041.hp1 HG03225.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp1	a0002 a0004 a0002 a0004	a0002c0009 a0004c0003 a0002c0009 a0004c0003	a0002c0009t0005 a0004c0003t0001 a0004c0003t0003 others(1): Show a0002c0009t0005 a0004c0003t0001 a0004c0003t0003 a0004c0003t0005	a0002c0009t0005g0028 a0004c0003t0001g0095 a0004c0003t0003g0128 others(3): Show a0002c0009t0005g0028 a0004c0003t0001g0095 a0004c0003t0003g0128 a0004c0003t0003g0129 a0004c0003t0005g0024 a0004c0003t0005g0029	10	379	0.0264	c.350 others(4): Show c.3505G>A	p.Ala others(7): Show p.Ala1169Thr	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	19/19	4001/5430	3505/3579	1169/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57726992	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01169.hp2 HG02615.hp1 others(3): Show HG01167.hp2 HG01169.hp2 HG02615.hp1 HG02717.hp1 HG02895.hp1 NA19043.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0003 a0005c0006t0001 a0005c0006t0003	a0005c0006t0001g0019 a0005c0006t0003g0050 a0005c0006t0001g0019 a0005c0006t0003g0050	6	380	0.0158	c.331 others(4): Show c.3318C>G	p.Ile others(7): Show p.Ile1106Met	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	18/19	3814/5430	3318/3579	1106/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57727375	G G	A A	missense_variant missense_variant	MODERATE	NA18992.hp1 NA19068.hp1 NA18992.hp1 NA19068.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0035 a0006c0011t0001g0035	2	380	0.0053	c.306 others(4): Show c.3065C>T	p.Ser others(7): Show p.Ser1022Leu	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	17/19	3561/5430	3065/3579	1022/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57728079	T T	G G	missense_variant missense_variant	MODERATE	NA19086.hp2 NA19086.hp2	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0001 a0012c0023t0001	a0012c0023t0001g0088 a0012c0023t0001g0088	1	380	0.0026	c.262 others(4): Show c.2624A>C	p.Asn others(6): Show p.Asn875Thr	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	15/19	3120/5430	2624/3579	875/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57731886	C C	T T	missense_variant missense_variant	MODERATE	HG03471.hp2 HG03471.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0126 a0010c0018t0001g0126	1	380	0.0026	c.187 others(4): Show c.1876G>A	p.Glu others(6): Show p.Glu626Lys	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	8/19	2372/5430	1876/3579	626/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57734055	C C	G G	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0003 a0003c0017t0003	a0003c0017t0003g0085 a0003c0017t0003g0085	1	380	0.0026	c.152 others(4): Show c.1520G>C	p.Gly others(6): Show p.Gly507Ala	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	5/19	2016/5430	1520/3579	507/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57734056	C C	T T	missense_variant missense_variant	MODERATE	NA18966.hp2 NA18967.hp2 NA18968.hp2 others(5): Show NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18984.hp2 NA18999.hp1 NA19002.hp2 NA19065.hp1	a0003 a0003	a0003c0004 a0003c0027 a0003c0004 a0003c0027	a0003c0004t0001 a0003c0027t0001 a0003c0004t0001 a0003c0027t0001	a0003c0004t0001g0010 a0003c0027t0001g0139 a0003c0004t0001g0010 a0003c0027t0001g0139	8	380	0.0211	c.151 others(4): Show c.1519G>A	p.Gly others(6): Show p.Gly507Ser	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	5/19	2015/5430	1519/3579	507/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57734595	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00099.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0008 a0007c0016t0008	a0007c0016t0008g0051 a0007c0016t0008g0051	1	380	0.0026	c.131 others(4): Show c.1312G>C	p.Glu others(6): Show p.Glu438Gln	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	3/19	1808/5430	1312/3579	438/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57737106	G G	T T	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0014 a0009c0015t0014	a0009c0015t0014g0140 a0009c0015t0014g0140	1	380	0.0026	c.114 others(4): Show c.1141C>A	p.Leu others(6): Show p.Leu381Met	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	1/19	1637/5430	1141/3579	381/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57737513	C C	A A	missense_variant missense_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0001 a0013c0026t0001	a0013c0026t0001g0138 a0013c0026t0001g0138	1	380	0.0026	c.734 others(3): Show c.734G>T	p.Gly others(6): Show p.Gly245Val	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	1/19	1230/5430	734/3579	245/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57737553	C C	T T	missense_variant missense_variant	MODERATE	NA18964.hp1 NA18964.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0053 a0011c0013t0001g0053	1	380	0.0026	c.694 others(3): Show c.694G>A	p.Ala others(6): Show p.Ala232Thr	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	1/19	1190/5430	694/3579	232/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57737785	C C	G G	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0052 a0008c0012t0001g0052	1	380	0.0026	c.462 others(3): Show c.462G>C	p.Glu others(6): Show p.Glu154Asp	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	1/19	958/5430	462/3579	154/1192	chr12	TogoVar
AGAP2_chr12_57720197_57743742	57737886	G G	T T	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0052 a0008c0012t0001g0052	1	380	0.0026	c.361 others(3): Show c.361C>A	p.Pro others(6): Show p.Pro121Thr	AGAP2	ENSG00000135439.12	transcript	ENST00000547588.6	protein_coding	1/19	857/5430	361/3579	121/1192	chr12	TogoVar
AGAP3_chr7_151081475_151149434	151117652	A A	C C	missense_variant missense_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0004 a0005c0018t0004	a0005c0018t0004g0291 a0005c0018t0004g0291	1	352	0.0028	c.581 others(3): Show c.581A>C	p.Asp others(6): Show p.Asp194Ala	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	5/18	848/3494	581/2736	194/911	chr7	TogoVar
AGAP3_chr7_151081475_151149434	151117661	T T	A A	missense_variant missense_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0004 a0005c0018t0004	a0005c0018t0004g0291 a0005c0018t0004g0291	1	352	0.0028	c.590 others(3): Show c.590T>A	p.Val others(6): Show p.Val197Glu	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	5/18	857/3494	590/2736	197/911	chr7	TogoVar
AGAP3_chr7_151081475_151149434	151117669	T T	G G	missense_variant missense_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0004 a0005c0018t0004	a0005c0018t0004g0291 a0005c0018t0004g0291	1	352	0.0028	c.598 others(3): Show c.598T>G	p.Phe others(6): Show p.Phe200Val	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	5/18	865/3494	598/2736	200/911	chr7	TogoVar
AGAP3_chr7_151081475_151149434	151117686	A A	C C	missense_variant missense_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0004 a0005c0018t0004	a0005c0018t0004g0291 a0005c0018t0004g0291	1	352	0.0028	c.615 others(3): Show c.615A>C	p.Glu others(6): Show p.Glu205Asp	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	5/18	882/3494	615/2736	205/911	chr7	TogoVar
AGAP3_chr7_151081475_151149434	151118624	A A	T T	missense_variant missense_variant	MODERATE	NA19065.hp2 NA19065.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0052 a0008c0015t0001g0052	1	352	0.0028	c.961 others(3): Show c.961A>T	p.Ile others(6): Show p.Ile321Phe	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	7/18	1228/3494	961/2736	321/911	chr7	TogoVar
AGAP3_chr7_151081475_151149434	151119999	G G	A A	missense_variant missense_variant	MODERATE	NA19011.hp2 NA19011.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0243 a0007c0009t0001g0243	1	352	0.0028	c.982 others(3): Show c.982G>A	p.Gly others(6): Show p.Gly328Ser	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	8/18	1249/3494	982/2736	328/911	chr7	TogoVar
AGAP3_chr7_151081475_151149434	151138250	G G	A A	missense_variant missense_variant	MODERATE	NA18522.hp1 NA18522.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0333 a0006c0011t0002g0333	1	351	0.0028	c.160 others(4): Show c.1603G>A	p.Val others(6): Show p.Val535Ile	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	12/18	1870/3494	1603/2736	535/911	chr7	TogoVar
AGAP3_chr7_151081475_151149434	151143353	A A	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0123 a0003c0014t0001g0123	1	352	0.0028	c.228 others(4): Show c.2286A>T	p.Glu others(6): Show p.Glu762Asp	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	17/18	2553/3494	2286/2736	762/911	chr7	TogoVar
AGAP3_chr7_151081475_151149434	151143924	G G	A A	missense_variant missense_variant	MODERATE	HG02071.hp2 HG02071.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0033 a0004c0013t0001g0033	1	352	0.0028	c.271 others(4): Show c.2717G>A	p.Arg others(6): Show p.Arg906His	AGAP3	ENSG00000133612.20	transcript	ENST00000397238.7	protein_coding	18/18	2984/3494	2717/2736	906/911	chr7	TogoVar
AGAP4_chr10_45820594_45852500	45825925	T T	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0028 a0028	a0028c0040 a0028c0040	a0028c0040t0001 a0028c0040t0001	a0028c0040t0001g0265 a0028c0040t0001g0265	1	380	0.0026	c.205 others(4): Show c.2051A>G	p.Lys others(6): Show p.Lys684Arg	AGAP4	ENSG00000188234.15	transcript	ENST00000616763.6	protein_coding	8/8	2204/2535	2051/2061	684/686	chr10	TogoVar

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