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
AGRP_chr16_67477571_67488547	67483042	C C	T T	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp2 NA20752.hp2 HG01070.hp1 HG01071.hp2 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0005	3	254	0.0118	c.199 others(3): Show c.199G>A	p.Ala others(5): Show p.Ala67Thr	AGRP	ENSG00000159723.5	transcript	ENST00000290953.3	protein_coding	3/4	233/498	199/399	67/132	chr16	TogoVar
AGTPBP1_chr9_85541539_85746954	85575433	T T	C C	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0089 a0010c0010t0001g0089	1	300	0.0033	c.338 others(4): Show c.3385A>G	p.Lys others(7): Show p.Lys1129Glu	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	25/26	3598/4464	3385/3681	1129/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85575443	C C	G G	missense_variant missense_variant	MODERATE	HG03453.hp2 HG03453.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0143 a0008c0009t0001g0143	1	300	0.0033	c.337 others(4): Show c.3375G>C	p.Glu others(7): Show p.Glu1125Asp	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	25/26	3588/4464	3375/3681	1125/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85585489	C C	G G	missense_variant missense_variant	MODERATE	NA18992.hp2 NA18992.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0136 a0009c0008t0001g0136	1	300	0.0033	c.313 others(4): Show c.3139G>C	p.Asp others(7): Show p.Asp1047His	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	23/26	3352/4464	3139/3681	1047/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85586831	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0066 a0006c0007t0001g0066	1	300	0.0033	c.303 others(4): Show c.3033G>C	p.Leu others(7): Show p.Leu1011Phe	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	22/26	3246/4464	3033/3681	1011/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85633049	G G	T T	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00544.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0074 a0003c0006t0001g0074	1	300	0.0033	c.162 others(4): Show c.1628C>A	p.Pro others(6): Show p.Pro543His	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	14/26	1841/4464	1628/3681	543/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85633298	G G	A A	missense_variant missense_variant	MODERATE	HG00558.hp1 HG00558.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0238 a0004c0012t0002g0238	1	300	0.0033	c.137 others(4): Show c.1379C>T	p.Thr others(6): Show p.Thr460Met	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	14/26	1592/4464	1379/3681	460/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85633370	T T	C C	missense_variant missense_variant	MODERATE	HG01069.hp2 HG01069.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0006 a0005c0014t0006	a0005c0014t0006g0299 a0005c0014t0006g0299	1	300	0.0033	c.130 others(4): Show c.1307A>G	p.Tyr others(6): Show p.Tyr436Cys	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	14/26	1520/4464	1307/3681	436/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85642896	T T	A A	missense_variant missense_variant	MODERATE	HG02735.hp2 NA18961.hp2 NA18995.hp2 others(2): Show HG02735.hp2 NA18961.hp2 NA18995.hp2 NA19012.hp1 NA19080.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0190 a0002c0003t0002g0194 a0002c0003t0002g0219 others(2): Show a0002c0003t0002g0190 a0002c0003t0002g0194 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0221	5	300	0.0167	c.123 others(4): Show c.1233A>T	p.Glu others(6): Show p.Glu411Asp	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	13/26	1446/4464	1233/3681	411/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85672636	A A	G G	missense_variant missense_variant	MODERATE	HG02132.hp2 HG02132.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0009 a0007c0005t0001g0009	1	300	0.0033	c.482 others(3): Show c.482T>C	p.Ile others(6): Show p.Ile161Thr	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	7/26	695/4464	482/3681	161/1226	chr9	TogoVar
AGTR1_chr3_148692903_148748003	148742053	C C	A A	missense_variant missense_variant	MODERATE	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0001 a0002c0005t0001g0001	1	348	0.0029	c.101 others(4): Show c.1018C>A	p.Arg others(6): Show p.Arg340Ser	AGTR1	ENSG00000144891.19	transcript	ENST00000349243.8	protein_coding	3/3	1374/2324	1018/1080	340/359	chr3	TogoVar
AGTR1_chr3_148692903_148748003	148742081	C C	T T	missense_variant missense_variant	MODERATE	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0128 a0003c0004t0001g0128	1	348	0.0029	c.104 others(4): Show c.1046C>T	p.Thr others(6): Show p.Thr349Ile	AGTR1	ENSG00000144891.19	transcript	ENST00000349243.8	protein_coding	3/3	1402/2324	1046/1080	349/359	chr3	TogoVar
AGTR2_chrX_116165744_116179974	116172971	T T	C C	missense_variant missense_variant	MODERATE	HG00597.hp1 HG00597.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0003	1	330	0.0030	c.691 others(3): Show c.691T>C	p.Tyr others(6): Show p.Tyr231His	AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	3/3	859/2862	691/1092	231/363	chrX	TogoVar
AGTR2_chrX_116165744_116179974	116173023	G G	A A	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01167.hp1 HG01169.hp1 others(4): Show HG01099.hp1 HG01167.hp1 HG01169.hp1 HG02486.hp1 HG02896.hp1 HG03516.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0007 a0002c0002t0006 a0002c0002t0007	a0002c0002t0006g0004 a0002c0002t0006g0009 a0002c0002t0007g0004 a0002c0002t0006g0004 a0002c0002t0006g0009 a0002c0002t0007g0004	7	330	0.0212	c.743 others(3): Show c.743G>A	p.Arg others(6): Show p.Arg248Lys	AGTR2	ENSG00000180772.8	transcript	ENST00000371906.5	protein_coding	3/3	911/2862	743/1092	248/363	chrX	TogoVar
AGT_chr1_230697523_230719122	230703157	G G	A A	missense_variant missense_variant	MODERATE	HG03579.hp1 HG03579.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0091 a0008c0007t0001g0091	1	454	0.0022	c.141 others(4): Show c.1415C>T	p.Pro others(6): Show p.Pro472Leu	AGT	ENSG00000135744.9	transcript	ENST00000366667.6	protein_coding	5/5	1482/2116	1415/1431	472/476	chr1	TogoVar
AGT_chr1_230697523_230719122	230703169	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG00609.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0110 a0004c0006t0001g0110	1	454	0.0022	c.140 others(4): Show c.1403G>A	p.Arg others(6): Show p.Arg468His	AGT	ENSG00000135744.9	transcript	ENST00000366667.6	protein_coding	5/5	1470/2116	1403/1431	468/476	chr1	TogoVar
AGT_chr1_230697523_230719122	230706174	C C	G G	missense_variant missense_variant	MODERATE	HG01496.hp2 HG01496.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0071 a0006c0005t0001g0071	1	454	0.0022	c.856 others(3): Show c.856G>C	p.Ala others(6): Show p.Ala286Pro	AGT	ENSG00000135744.9	transcript	ENST00000366667.6	protein_coding	3/5	923/2116	856/1431	286/476	chr1	TogoVar
AGT_chr1_230697523_230719122	230710009	T T	C C	missense_variant missense_variant	MODERATE	HG01433.hp2 HG01433.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0143 a0005c0009t0002g0143	1	454	0.0022	c.815 others(3): Show c.815A>G	p.Tyr others(6): Show p.Tyr272Cys	AGT	ENSG00000135744.9	transcript	ENST00000366667.6	protein_coding	2/5	882/2116	815/1431	272/476	chr1	TogoVar
AGT_chr1_230697523_230719122	230710048	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(359): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0008	a0001c0001 a0001c0008 a0003c0003 others(3): Show a0001c0001 a0001c0008 a0003c0003 a0004c0006 a0006c0005 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0008t0001 a0003c0003t0001 a0003c0003t0003 a0004c0006t0001 a0006c0005t0001 a0008c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(107): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0148 a0001c0001t0002g0070 a0001c0001t0002g0092 a0001c0001t0002g0111 a0001c0001t0003g0031 a0001c0001t0003g0046 a0001c0001t0003g0093 a0001c0001t0004g0038 a0001c0001t0005g0050 a0001c0001t0006g0055 a0001c0001t0008g0088 a0001c0008t0001g0119 a0003c0003t0001g0008 a0003c0003t0001g0011 a0003c0003t0001g0036 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0086 a0003c0003t0003g0027 a0004c0006t0001g0110 a0006c0005t0001g0071 a0008c0007t0001g0091	362	454	0.7974	c.776 others(3): Show c.776T>C	p.Met others(6): Show p.Met259Thr	AGT	ENSG00000135744.9	transcript	ENST00000366667.6	protein_coding	2/5	843/2116	776/1431	259/476	chr1	TogoVar
AGT_chr1_230697523_230719122	230710231	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00423.hp2 HG00735.hp1 others(33): Show HG00140.hp1 HG00423.hp2 HG00735.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01928.hp1 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02132.hp1 HG02630.hp2 HG02735.hp1 HG03209.hp1 HG03453.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04199.hp1 NA18942.hp2 NA18947.hp1 NA18951.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19057.hp1 NA19062.hp2 NA19075.hp2 NA19082.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0008 a0003c0003t0001g0011 a0003c0003t0001g0036 others(9): Show a0003c0003t0001g0008 a0003c0003t0001g0011 a0003c0003t0001g0036 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0086 a0003c0003t0003g0027	36	454	0.0793	c.593 others(3): Show c.593C>T	p.Thr others(6): Show p.Thr198Met	AGT	ENSG00000135744.9	transcript	ENST00000366667.6	protein_coding	2/5	660/2116	593/1431	198/476	chr1	TogoVar
AGT_chr1_230697523_230719122	230710441	G G	A A	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02559.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0144 a0007c0010t0001g0144	1	454	0.0022	c.383 others(3): Show c.383C>T	p.Thr others(6): Show p.Thr128Met	AGT	ENSG00000135744.9	transcript	ENST00000366667.6	protein_coding	2/5	450/2116	383/1431	128/476	chr1	TogoVar
AGXT2_chr5_34993102_35052949	34998772	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00408.hp2 HG00544.hp2 others(104): Show HG00099.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02273.hp1 HG02300.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18973.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19081.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp1	a0003 a0005 a0007 others(4): Show a0003 a0005 a0007 a0010 a0012 a0018 a0024	a0003c0006 a0003c0012 a0005c0005 others(9): Show a0003c0006 a0003c0012 a0005c0005 a0007c0009 a0007c0018 a0010c0014 a0010c0020 a0010c0032 a0012c0013 a0018c0028 a0018c0033 a0024c0039	a0003c0006t0002 a0003c0006t0003 a0003c0006t0006 others(12): Show a0003c0006t0002 a0003c0006t0003 a0003c0006t0006 a0003c0012t0002 a0003c0012t0008 a0005c0005t0002 a0007c0009t0002 a0007c0018t0002 a0010c0014t0002 a0010c0020t0002 a0010c0032t0002 a0012c0013t0002 a0018c0028t0002 a0018c0033t0002 a0024c0039t0002	a0003c0006t0002g0007 a0003c0006t0002g0010 a0003c0006t0002g0121 others(100): Show a0003c0006t0002g0007 a0003c0006t0002g0010 a0003c0006t0002g0121 a0003c0006t0002g0122 a0003c0006t0002g0123 a0003c0006t0002g0136 a0003c0006t0002g0143 a0003c0006t0002g0145 a0003c0006t0002g0157 a0003c0006t0002g0160 a0003c0006t0002g0161 a0003c0006t0002g0162 a0003c0006t0002g0168 a0003c0006t0002g0172 a0003c0006t0002g0182 a0003c0006t0002g0183 a0003c0006t0002g0184 a0003c0006t0002g0188 a0003c0006t0002g0201 a0003c0006t0002g0219 a0003c0006t0002g0221 a0003c0006t0002g0223 a0003c0006t0002g0231 a0003c0006t0002g0252 a0003c0006t0003g0159 a0003c0006t0003g0169 a0003c0006t0006g0369 a0003c0006t0006g0370 a0003c0012t0002g0020 a0003c0012t0002g0048 a0003c0012t0002g0059 a0003c0012t0002g0083 a0003c0012t0002g0117 a0003c0012t0002g0118 a0003c0012t0008g0097 a0005c0005t0002g0012 a0005c0005t0002g0101 a0005c0005t0002g0255 a0005c0005t0002g0256 a0005c0005t0002g0257 a0005c0005t0002g0260 a0005c0005t0002g0268 a0005c0005t0002g0273 a0005c0005t0002g0274 a0005c0005t0002g0276 a0005c0005t0002g0278 a0005c0005t0002g0279 a0005c0005t0002g0280 a0005c0005t0002g0293 a0005c0005t0002g0294 a0005c0005t0002g0297 a0005c0005t0002g0298 a0005c0005t0002g0299 a0005c0005t0002g0300 a0005c0005t0002g0302 a0005c0005t0002g0303 a0005c0005t0002g0305 a0005c0005t0002g0306 a0005c0005t0002g0310 a0005c0005t0002g0311 a0005c0005t0002g0312 a0005c0005t0002g0315 a0005c0005t0002g0333 a0005c0005t0002g0334 a0005c0005t0002g0335 a0005c0005t0002g0337 a0005c0005t0002g0339 a0007c0009t0002g0003 a0007c0009t0002g0022 a0007c0009t0002g0060 a0007c0009t0002g0073 a0007c0009t0002g0074 a0007c0009t0002g0075 a0007c0009t0002g0104 a0007c0009t0002g0110 a0007c0009t0002g0111 a0007c0009t0002g0112 a0007c0009t0002g0175 a0007c0018t0002g0167 a0007c0018t0002g0180 a0007c0018t0002g0199 a0010c0014t0002g0030 a0010c0014t0002g0032 a0010c0014t0002g0033 a0010c0014t0002g0035 a0010c0014t0002g0070 a0010c0014t0002g0106 a0010c0014t0002g0244 a0010c0020t0002g0037 a0010c0020t0002g0038 a0010c0020t0002g0042 a0010c0032t0002g0047 a0012c0013t0002g0258 a0012c0013t0002g0285 a0012c0013t0002g0322 a0012c0013t0002g0324 a0012c0013t0002g0328 a0012c0013t0002g0329 a0012c0013t0002g0330 a0012c0013t0002g0367 a0018c0028t0002g0171 a0018c0033t0002g0234 a0024c0039t0002g0338	107	382	0.2801	c.149 others(4): Show c.1492G>T	p.Val others(6): Show p.Val498Leu	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	14/14	1549/2219	1492/1545	498/514	chr5	TogoVar
AGXT2_chr5_34993102_35052949	34998789	G G	C C	missense_variant missense_variant	MODERATE	HG00408.hp1 HG01081.hp2 HG01168.hp1 others(13): Show HG00408.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01934.hp1 HG02683.hp2 HG02698.hp1 NA18612.hp1 NA18982.hp2 NA18998.hp1 NA19064.hp1 NA20905.hp2	a0009 a0014 a0020 a0009 a0014 a0020	a0009c0010 a0009c0024 a0014c0017 others(1): Show a0009c0010 a0009c0024 a0014c0017 a0020c0037	a0009c0010t0003 a0009c0024t0003 a0014c0017t0003 others(1): Show a0009c0010t0003 a0009c0024t0003 a0014c0017t0003 a0020c0037t0003	a0009c0010t0003g0008 a0009c0010t0003g0009 a0009c0010t0003g0128 others(11): Show a0009c0010t0003g0008 a0009c0010t0003g0009 a0009c0010t0003g0128 a0009c0010t0003g0150 a0009c0010t0003g0155 a0009c0010t0003g0158 a0009c0010t0003g0163 a0009c0024t0003g0085 a0009c0024t0003g0113 a0014c0017t0003g0272 a0014c0017t0003g0296 a0014c0017t0003g0351 a0014c0017t0003g0352 a0020c0037t0003g0288	16	382	0.0419	c.147 others(4): Show c.1475C>G	p.Pro others(6): Show p.Pro492Arg	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	14/14	1532/2219	1475/1545	492/514	chr5	TogoVar
AGXT2_chr5_34993102_35052949	35010069	A A	C C	missense_variant missense_variant	MODERATE	HG02683.hp2 HG02683.hp2	a0020 a0020	a0020c0037 a0020c0037	a0020c0037t0003 a0020c0037t0003	a0020c0037t0003g0288 a0020c0037t0003g0288	1	382	0.0026	c.126 others(4): Show c.1269T>G	p.Asp others(6): Show p.Asp423Glu	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	12/14	1326/2219	1269/1545	423/514	chr5	TogoVar
AGXT2_chr5_34993102_35052949	35032776	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02970.hp2 HG02976.hp2 others(2): Show HG02109.hp2 HG02970.hp2 HG02976.hp2 HG03225.hp2 NA18522.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0003 a0013c0015t0003	a0013c0015t0003g0001 a0013c0015t0003g0026 a0013c0015t0003g0001 a0013c0015t0003g0026	5	382	0.0131	c.725 others(3): Show c.725G>A	p.Arg others(6): Show p.Arg242Gln	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	7/14	782/2219	725/1545	242/514	chr5	TogoVar
AGXT2_chr5_34993102_35052949	35033500	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(319): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(13): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0019 a0020 a0022	a0001c0001 a0001c0003 a0001c0034 others(22): Show a0001c0001 a0001c0003 a0001c0034 a0003c0006 a0003c0012 a0004c0004 a0004c0035 a0004c0038 a0005c0005 a0006c0007 a0006c0022 a0007c0009 a0007c0018 a0008c0008 a0009c0010 a0009c0024 a0011c0011 a0011c0029 a0012c0013 a0013c0015 a0014c0017 a0015c0016 a0019c0026 a0020c0037 a0022c0030	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(37): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0034t0003 a0003c0006t0002 a0003c0006t0003 a0003c0006t0006 a0003c0012t0002 a0003c0012t0008 a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 a0004c0035t0001 a0004c0038t0001 a0005c0005t0002 a0006c0007t0001 a0006c0007t0003 a0006c0007t0004 a0006c0007t0005 a0006c0022t0004 a0007c0009t0002 a0007c0018t0002 a0008c0008t0001 a0008c0008t0004 a0008c0008t0007 a0009c0010t0003 a0009c0024t0003 a0011c0011t0001 a0011c0011t0004 a0011c0029t0001 a0012c0013t0002 a0013c0015t0003 a0014c0017t0003 a0015c0016t0005 a0019c0026t0003 a0020c0037t0003 a0022c0030t0004	a0001c0001t0001g0016 a0001c0001t0001g0129 a0001c0001t0001g0131 others(305): Show a0001c0001t0001g0016 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0001g0360 a0001c0001t0001g0366 a0001c0001t0003g0011 a0001c0001t0003g0120 a0001c0001t0003g0142 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0181 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0357 a0001c0001t0003g0359 a0001c0001t0003g0361 a0001c0001t0004g0130 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0139 a0001c0001t0004g0197 a0001c0001t0004g0213 a0001c0001t0004g0224 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0358 a0001c0001t0004g0362 a0001c0001t0004g0363 a0001c0003t0001g0028 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0057 a0001c0003t0001g0084 a0001c0003t0001g0088 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0094 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0116 a0001c0003t0001g0246 a0001c0003t0003g0002 a0001c0003t0003g0004 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0025 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0093 a0001c0003t0003g0095 a0001c0003t0003g0096 a0001c0003t0003g0103 a0001c0003t0003g0237 a0001c0003t0003g0240 a0001c0003t0003g0241 a0001c0003t0003g0242 a0001c0003t0003g0365 a0001c0003t0004g0102 a0001c0034t0003g0114 a0003c0006t0002g0007 a0003c0006t0002g0010 a0003c0006t0002g0121 a0003c0006t0002g0122 a0003c0006t0002g0123 a0003c0006t0002g0136 a0003c0006t0002g0143 a0003c0006t0002g0145 a0003c0006t0002g0157 a0003c0006t0002g0160 a0003c0006t0002g0161 a0003c0006t0002g0162 a0003c0006t0002g0168 a0003c0006t0002g0172 a0003c0006t0002g0182 a0003c0006t0002g0183 a0003c0006t0002g0184 a0003c0006t0002g0188 a0003c0006t0002g0201 a0003c0006t0002g0219 a0003c0006t0002g0221 a0003c0006t0002g0223 a0003c0006t0002g0231 a0003c0006t0002g0252 a0003c0006t0003g0159 a0003c0006t0003g0169 a0003c0006t0006g0369 a0003c0006t0006g0370 a0003c0012t0002g0020 a0003c0012t0002g0048 a0003c0012t0002g0059 a0003c0012t0002g0083 a0003c0012t0002g0117 a0003c0012t0002g0118 a0003c0012t0008g0097 a0004c0004t0001g0229 a0004c0004t0001g0235 a0004c0004t0001g0236 a0004c0004t0001g0253 a0004c0004t0001g0261 a0004c0004t0001g0266 a0004c0004t0001g0271 a0004c0004t0001g0275 a0004c0004t0001g0277 a0004c0004t0001g0290 a0004c0004t0001g0291 a0004c0004t0001g0292 a0004c0004t0001g0301 a0004c0004t0001g0304 a0004c0004t0001g0307 a0004c0004t0001g0313 a0004c0004t0001g0314 a0004c0004t0001g0319 a0004c0004t0001g0347 a0004c0004t0001g0349 a0004c0004t0001g0350 a0004c0004t0003g0270 a0004c0004t0003g0286 a0004c0004t0003g0287 a0004c0004t0003g0289 a0004c0004t0003g0316 a0004c0004t0003g0317 a0004c0004t0003g0318 a0004c0004t0003g0332 a0004c0004t0003g0348 a0004c0004t0004g0254 a0004c0004t0004g0269 a0004c0004t0004g0308 a0004c0004t0004g0309 a0004c0035t0001g0346 a0004c0038t0001g0295 a0005c0005t0002g0012 a0005c0005t0002g0101 a0005c0005t0002g0255 a0005c0005t0002g0256 a0005c0005t0002g0257 a0005c0005t0002g0260 a0005c0005t0002g0268 a0005c0005t0002g0273 a0005c0005t0002g0274 a0005c0005t0002g0276 a0005c0005t0002g0278 a0005c0005t0002g0279 a0005c0005t0002g0280 a0005c0005t0002g0293 a0005c0005t0002g0294 a0005c0005t0002g0297 a0005c0005t0002g0298 a0005c0005t0002g0299 a0005c0005t0002g0300 a0005c0005t0002g0302 a0005c0005t0002g0303 a0005c0005t0002g0305 a0005c0005t0002g0306 a0005c0005t0002g0310 a0005c0005t0002g0311 a0005c0005t0002g0312 a0005c0005t0002g0315 a0005c0005t0002g0333 a0005c0005t0002g0334 a0005c0005t0002g0335 a0005c0005t0002g0337 a0005c0005t0002g0339 a0006c0007t0001g0013 a0006c0007t0001g0017 a0006c0007t0001g0027 a0006c0007t0001g0045 a0006c0007t0001g0051 a0006c0007t0001g0052 a0006c0007t0001g0058 a0006c0007t0001g0061 a0006c0007t0001g0071 a0006c0007t0001g0072 a0006c0007t0001g0082 a0006c0007t0001g0107 a0006c0007t0001g0108 a0006c0007t0001g0109 a0006c0007t0001g0238 a0006c0007t0003g0044 a0006c0007t0003g0046 a0006c0007t0003g0081 a0006c0007t0003g0263 a0006c0007t0003g0264 a0006c0007t0004g0233 a0006c0007t0004g0239 a0006c0007t0004g0354 a0006c0007t0005g0055 a0006c0007t0005g0056 a0006c0022t0004g0015 a0006c0022t0004g0178 a0007c0009t0002g0003 a0007c0009t0002g0022 a0007c0009t0002g0060 a0007c0009t0002g0073 a0007c0009t0002g0074 a0007c0009t0002g0075 a0007c0009t0002g0104 a0007c0009t0002g0110 a0007c0009t0002g0111 a0007c0009t0002g0112 a0007c0009t0002g0175 a0007c0018t0002g0167 a0007c0018t0002g0180 a0007c0018t0002g0199 a0008c0008t0001g0227 a0008c0008t0001g0228 a0008c0008t0001g0267 a0008c0008t0001g0282 a0008c0008t0001g0284 a0008c0008t0001g0325 a0008c0008t0001g0326 a0008c0008t0001g0327 a0008c0008t0001g0331 a0008c0008t0001g0368 a0008c0008t0004g0321 a0008c0008t0004g0323 a0008c0008t0004g0336 a0008c0008t0007g0283 a0009c0010t0003g0008 a0009c0010t0003g0009 a0009c0010t0003g0128 a0009c0010t0003g0150 a0009c0010t0003g0155 a0009c0010t0003g0158 a0009c0010t0003g0163 a0009c0024t0003g0085 a0009c0024t0003g0113 a0011c0011t0001g0124 a0011c0011t0001g0125 a0011c0011t0001g0126 a0011c0011t0001g0144 a0011c0011t0004g0005 a0011c0011t0004g0006 a0011c0029t0001g0232 a0012c0013t0002g0258 a0012c0013t0002g0285 a0012c0013t0002g0322 a0012c0013t0002g0324 a0012c0013t0002g0328 a0012c0013t0002g0329 a0012c0013t0002g0330 a0012c0013t0002g0367 a0013c0015t0003g0001 a0013c0015t0003g0026 a0014c0017t0003g0272 a0014c0017t0003g0296 a0014c0017t0003g0351 a0014c0017t0003g0352 a0015c0016t0005g0245 a0015c0016t0005g0247 a0015c0016t0005g0248 a0015c0016t0005g0249 a0019c0026t0003g0187 a0020c0037t0003g0288 a0022c0030t0004g0265	322	382	0.8429	c.635 others(3): Show c.635C>T	p.Thr others(6): Show p.Thr212Ile	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	6/14	692/2219	635/1545	212/514	chr5	TogoVar
AGXT2_chr5_34993102_35052949	35037010	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(184): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0002 a0004 a0005 others(10): Show a0002 a0004 a0005 a0006 a0007 a0010 a0011 a0013 a0014 a0015 a0020 a0021 a0023	a0002c0002 a0002c0021 a0002c0023 others(20): Show a0002c0002 a0002c0021 a0002c0023 a0002c0031 a0004c0004 a0004c0035 a0004c0038 a0005c0005 a0006c0007 a0006c0022 a0007c0009 a0007c0018 a0010c0014 a0010c0020 a0010c0032 a0011c0011 a0011c0029 a0013c0015 a0014c0017 a0015c0016 a0020c0037 a0021c0027 a0023c0036	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(28): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0021t0004 a0002c0023t0003 a0002c0031t0004 a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 a0004c0035t0001 a0004c0038t0001 a0005c0005t0002 a0006c0007t0001 a0006c0007t0003 a0006c0007t0004 a0006c0007t0005 a0006c0022t0004 a0007c0009t0002 a0007c0018t0002 a0010c0014t0002 a0010c0020t0002 a0010c0032t0002 a0011c0011t0001 a0011c0011t0004 a0011c0029t0001 a0013c0015t0003 a0014c0017t0003 a0015c0016t0005 a0020c0037t0003 a0021c0027t0003 a0023c0036t0001	a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0024 others(177): Show a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0105 a0002c0002t0001g0115 a0002c0002t0001g0119 a0002c0002t0001g0243 a0002c0002t0001g0364 a0002c0002t0003g0067 a0002c0002t0004g0076 a0002c0002t0004g0077 a0002c0002t0004g0078 a0002c0002t0004g0079 a0002c0002t0004g0080 a0002c0002t0004g0340 a0002c0002t0004g0341 a0002c0002t0004g0342 a0002c0002t0004g0343 a0002c0002t0004g0344 a0002c0002t0004g0345 a0002c0021t0004g0179 a0002c0021t0004g0192 a0002c0023t0003g0043 a0002c0023t0003g0262 a0002c0031t0004g0353 a0004c0004t0001g0229 a0004c0004t0001g0235 a0004c0004t0001g0236 a0004c0004t0001g0253 a0004c0004t0001g0261 a0004c0004t0001g0266 a0004c0004t0001g0271 a0004c0004t0001g0275 a0004c0004t0001g0277 a0004c0004t0001g0290 a0004c0004t0001g0291 a0004c0004t0001g0292 a0004c0004t0001g0301 a0004c0004t0001g0304 a0004c0004t0001g0307 a0004c0004t0001g0313 a0004c0004t0001g0314 a0004c0004t0001g0319 a0004c0004t0001g0347 a0004c0004t0001g0349 a0004c0004t0001g0350 a0004c0004t0003g0270 a0004c0004t0003g0286 a0004c0004t0003g0287 a0004c0004t0003g0289 a0004c0004t0003g0316 a0004c0004t0003g0317 a0004c0004t0003g0318 a0004c0004t0003g0332 a0004c0004t0003g0348 a0004c0004t0004g0254 a0004c0004t0004g0269 a0004c0004t0004g0308 a0004c0004t0004g0309 a0004c0035t0001g0346 a0004c0038t0001g0295 a0005c0005t0002g0012 a0005c0005t0002g0101 a0005c0005t0002g0255 a0005c0005t0002g0256 a0005c0005t0002g0257 a0005c0005t0002g0260 a0005c0005t0002g0268 a0005c0005t0002g0273 a0005c0005t0002g0274 a0005c0005t0002g0276 a0005c0005t0002g0278 a0005c0005t0002g0279 a0005c0005t0002g0280 a0005c0005t0002g0293 a0005c0005t0002g0294 a0005c0005t0002g0297 a0005c0005t0002g0298 a0005c0005t0002g0299 a0005c0005t0002g0300 a0005c0005t0002g0302 a0005c0005t0002g0303 a0005c0005t0002g0305 a0005c0005t0002g0306 a0005c0005t0002g0310 a0005c0005t0002g0311 a0005c0005t0002g0312 a0005c0005t0002g0315 a0005c0005t0002g0333 a0005c0005t0002g0334 a0005c0005t0002g0335 a0005c0005t0002g0337 a0005c0005t0002g0339 a0006c0007t0001g0013 a0006c0007t0001g0017 a0006c0007t0001g0027 a0006c0007t0001g0045 a0006c0007t0001g0051 a0006c0007t0001g0052 a0006c0007t0001g0058 a0006c0007t0001g0061 a0006c0007t0001g0071 a0006c0007t0001g0072 a0006c0007t0001g0082 a0006c0007t0001g0107 a0006c0007t0001g0108 a0006c0007t0001g0109 a0006c0007t0001g0238 a0006c0007t0003g0044 a0006c0007t0003g0046 a0006c0007t0003g0081 a0006c0007t0003g0263 a0006c0007t0003g0264 a0006c0007t0004g0233 a0006c0007t0004g0239 a0006c0007t0004g0354 a0006c0007t0005g0055 a0006c0007t0005g0056 a0006c0022t0004g0015 a0006c0022t0004g0178 a0007c0009t0002g0003 a0007c0009t0002g0022 a0007c0009t0002g0060 a0007c0009t0002g0073 a0007c0009t0002g0074 a0007c0009t0002g0075 a0007c0009t0002g0104 a0007c0009t0002g0110 a0007c0009t0002g0111 a0007c0009t0002g0112 a0007c0009t0002g0175 a0007c0018t0002g0167 a0007c0018t0002g0180 a0007c0018t0002g0199 a0010c0014t0002g0030 a0010c0014t0002g0032 a0010c0014t0002g0033 a0010c0014t0002g0035 a0010c0014t0002g0070 a0010c0014t0002g0106 a0010c0014t0002g0244 a0010c0020t0002g0037 a0010c0020t0002g0038 a0010c0020t0002g0042 a0010c0032t0002g0047 a0011c0011t0001g0124 a0011c0011t0001g0125 a0011c0011t0001g0126 a0011c0011t0001g0144 a0011c0011t0004g0005 a0011c0011t0004g0006 a0011c0029t0001g0232 a0013c0015t0003g0001 a0013c0015t0003g0026 a0014c0017t0003g0272 a0014c0017t0003g0296 a0014c0017t0003g0351 a0014c0017t0003g0352 a0015c0016t0005g0245 a0015c0016t0005g0247 a0015c0016t0005g0248 a0015c0016t0005g0249 a0020c0037t0003g0288 a0021c0027t0003g0185 a0023c0036t0001g0029	187	382	0.4895	c.418 others(3): Show c.418G>A	p.Val others(6): Show p.Val140Ile	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	4/14	475/2219	418/1545	140/514	chr5	TogoVar
AGXT2_chr5_34993102_35052949	35037030	C C	T T	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0022 a0022	a0022c0030 a0022c0030	a0022c0030t0004 a0022c0030t0004	a0022c0030t0004g0265 a0022c0030t0004g0265	1	382	0.0026	c.398 others(3): Show c.398G>A	p.Arg others(6): Show p.Arg133His	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	4/14	455/2219	398/1545	133/514	chr5	TogoVar
AGXT2_chr5_34993102_35052949	35037031	G G	A A	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02922.hp2 HG02965.hp2 others(1): Show HG02717.hp1 HG02922.hp2 HG02965.hp2 NA19030.hp2	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0005 a0015c0016t0005	a0015c0016t0005g0245 a0015c0016t0005g0247 a0015c0016t0005g0248 others(1): Show a0015c0016t0005g0245 a0015c0016t0005g0247 a0015c0016t0005g0248 a0015c0016t0005g0249	4	382	0.0105	c.397 others(3): Show c.397C>T	p.Arg others(6): Show p.Arg133Cys	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	4/14	454/2219	397/1545	133/514	chr5	TogoVar
AGXT2_chr5_34993102_35052949	35037034	C C	G G	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02630.hp1 HG02895.hp1 others(6): Show HG01109.hp1 HG02630.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03195.hp1 NA19043.hp1 NA20300.hp1	a0011 a0011	a0011c0011 a0011c0029 a0011c0011 a0011c0029	a0011c0011t0001 a0011c0011t0004 a0011c0029t0001 a0011c0011t0001 a0011c0011t0004 a0011c0029t0001	a0011c0011t0001g0124 a0011c0011t0001g0125 a0011c0011t0001g0126 others(4): Show a0011c0011t0001g0124 a0011c0011t0001g0125 a0011c0011t0001g0126 a0011c0011t0001g0144 a0011c0011t0004g0005 a0011c0011t0004g0006 a0011c0029t0001g0232	9	382	0.0236	c.394 others(3): Show c.394G>C	p.Gly others(6): Show p.Gly132Arg	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	4/14	451/2219	394/1545	132/514	chr5	TogoVar
AGXT2_chr5_34993102_35052949	35037060	A A	T T	missense_variant missense_variant	MODERATE	HG02970.hp1 HG02970.hp1	a0021 a0021	a0021c0027 a0021c0027	a0021c0027t0003 a0021c0027t0003	a0021c0027t0003g0185 a0021c0027t0003g0185	1	382	0.0026	c.368 others(3): Show c.368T>A	p.Val others(6): Show p.Val123Glu	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	4/14	425/2219	368/1545	123/514	chr5	TogoVar
AGXT2_chr5_34993102_35052949	35039358	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0003 a0019c0026t0003	a0019c0026t0003g0187 a0019c0026t0003g0187	1	382	0.0026	c.328 others(3): Show c.328G>A	p.Gly others(6): Show p.Gly110Arg	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	3/14	385/2219	328/1545	110/514	chr5	TogoVar
AGXT2_chr5_34993102_35052949	35039381	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(280): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0006 a0007 a0009 a0010 a0011 a0013 a0015 a0017 a0018 a0019 a0021 a0022	a0001c0001 a0001c0003 a0001c0034 others(25): Show a0001c0001 a0001c0003 a0001c0034 a0002c0002 a0002c0021 a0002c0023 a0002c0031 a0003c0006 a0003c0012 a0006c0007 a0006c0022 a0007c0009 a0007c0018 a0009c0010 a0009c0024 a0010c0014 a0010c0020 a0010c0032 a0011c0011 a0011c0029 a0013c0015 a0015c0016 a0017c0019 a0018c0028 a0018c0033 a0019c0026 a0021c0027 a0022c0030	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(39): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0034t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0021t0004 a0002c0023t0003 a0002c0031t0004 a0003c0006t0002 a0003c0006t0003 a0003c0006t0006 a0003c0012t0002 a0003c0012t0008 a0006c0007t0001 a0006c0007t0003 a0006c0007t0004 a0006c0007t0005 a0006c0022t0004 a0007c0009t0002 a0007c0018t0002 a0009c0010t0003 a0009c0024t0003 a0010c0014t0002 a0010c0020t0002 a0010c0032t0002 a0011c0011t0001 a0011c0011t0004 a0011c0029t0001 a0013c0015t0003 a0015c0016t0005 a0017c0019t0001 a0017c0019t0004 a0018c0028t0002 a0018c0033t0002 a0019c0026t0003 a0021c0027t0003 a0022c0030t0004	a0001c0001t0001g0016 a0001c0001t0001g0129 a0001c0001t0001g0131 others(267): Show a0001c0001t0001g0016 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0001g0360 a0001c0001t0001g0366 a0001c0001t0003g0011 a0001c0001t0003g0120 a0001c0001t0003g0142 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0181 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0357 a0001c0001t0003g0359 a0001c0001t0003g0361 a0001c0001t0004g0130 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0137 a0001c0001t0004g0139 a0001c0001t0004g0197 a0001c0001t0004g0213 a0001c0001t0004g0224 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0358 a0001c0001t0004g0362 a0001c0001t0004g0363 a0001c0003t0001g0028 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0057 a0001c0003t0001g0084 a0001c0003t0001g0088 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0094 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0116 a0001c0003t0001g0246 a0001c0003t0003g0002 a0001c0003t0003g0004 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0025 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0093 a0001c0003t0003g0095 a0001c0003t0003g0096 a0001c0003t0003g0103 a0001c0003t0003g0237 a0001c0003t0003g0240 a0001c0003t0003g0241 a0001c0003t0003g0242 a0001c0003t0003g0365 a0001c0003t0004g0102 a0001c0034t0003g0114 a0002c0002t0001g0014 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0105 a0002c0002t0001g0115 a0002c0002t0001g0119 a0002c0002t0001g0243 a0002c0002t0001g0364 a0002c0002t0003g0067 a0002c0002t0004g0076 a0002c0002t0004g0077 a0002c0002t0004g0078 a0002c0002t0004g0079 a0002c0002t0004g0080 a0002c0002t0004g0340 a0002c0002t0004g0341 a0002c0002t0004g0342 a0002c0002t0004g0343 a0002c0002t0004g0344 a0002c0002t0004g0345 a0002c0021t0004g0179 a0002c0021t0004g0192 a0002c0023t0003g0043 a0002c0023t0003g0262 a0002c0031t0004g0353 a0003c0006t0002g0007 a0003c0006t0002g0010 a0003c0006t0002g0121 a0003c0006t0002g0122 a0003c0006t0002g0123 a0003c0006t0002g0136 a0003c0006t0002g0143 a0003c0006t0002g0145 a0003c0006t0002g0157 a0003c0006t0002g0160 a0003c0006t0002g0161 a0003c0006t0002g0162 a0003c0006t0002g0168 a0003c0006t0002g0172 a0003c0006t0002g0182 a0003c0006t0002g0183 a0003c0006t0002g0184 a0003c0006t0002g0188 a0003c0006t0002g0201 a0003c0006t0002g0219 a0003c0006t0002g0221 a0003c0006t0002g0223 a0003c0006t0002g0231 a0003c0006t0002g0252 a0003c0006t0003g0159 a0003c0006t0003g0169 a0003c0006t0006g0369 a0003c0006t0006g0370 a0003c0012t0002g0020 a0003c0012t0002g0048 a0003c0012t0002g0059 a0003c0012t0002g0083 a0003c0012t0002g0117 a0003c0012t0002g0118 a0003c0012t0008g0097 a0006c0007t0001g0013 a0006c0007t0001g0017 a0006c0007t0001g0027 a0006c0007t0001g0045 a0006c0007t0001g0051 a0006c0007t0001g0052 a0006c0007t0001g0058 a0006c0007t0001g0061 a0006c0007t0001g0071 a0006c0007t0001g0072 a0006c0007t0001g0082 a0006c0007t0001g0107 a0006c0007t0001g0108 a0006c0007t0001g0109 a0006c0007t0001g0238 a0006c0007t0003g0044 a0006c0007t0003g0046 a0006c0007t0003g0081 a0006c0007t0003g0263 a0006c0007t0003g0264 a0006c0007t0004g0233 a0006c0007t0004g0239 a0006c0007t0004g0354 a0006c0007t0005g0055 a0006c0007t0005g0056 a0006c0022t0004g0015 a0006c0022t0004g0178 a0007c0009t0002g0003 a0007c0009t0002g0022 a0007c0009t0002g0060 a0007c0009t0002g0073 a0007c0009t0002g0074 a0007c0009t0002g0075 a0007c0009t0002g0104 a0007c0009t0002g0110 a0007c0009t0002g0111 a0007c0009t0002g0112 a0007c0009t0002g0175 a0007c0018t0002g0167 a0007c0018t0002g0180 a0007c0018t0002g0199 a0009c0010t0003g0008 a0009c0010t0003g0009 a0009c0010t0003g0128 a0009c0010t0003g0150 a0009c0010t0003g0155 a0009c0010t0003g0158 a0009c0010t0003g0163 a0009c0024t0003g0085 a0009c0024t0003g0113 a0010c0014t0002g0030 a0010c0014t0002g0032 a0010c0014t0002g0033 a0010c0014t0002g0035 a0010c0014t0002g0070 a0010c0014t0002g0106 a0010c0014t0002g0244 a0010c0020t0002g0037 a0010c0020t0002g0038 a0010c0020t0002g0042 a0010c0032t0002g0047 a0011c0011t0001g0124 a0011c0011t0001g0125 a0011c0011t0001g0126 a0011c0011t0001g0144 a0011c0011t0004g0005 a0011c0011t0004g0006 a0011c0029t0001g0232 a0013c0015t0003g0001 a0013c0015t0003g0026 a0015c0016t0005g0245 a0015c0016t0005g0247 a0015c0016t0005g0248 a0015c0016t0005g0249 a0017c0019t0001g0127 a0017c0019t0001g0200 a0017c0019t0004g0193 a0018c0028t0002g0171 a0018c0033t0002g0234 a0019c0026t0003g0187 a0021c0027t0003g0185 a0022c0030t0004g0265	283	382	0.7408	c.305 others(3): Show c.305G>A	p.Ser others(6): Show p.Ser102Asn	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	3/14	362/2219	305/1545	102/514	chr5	TogoVar
AGXT_chr2_240863824_240885500	240868891	C C	A A	missense_variant missense_variant	MODERATE	HG01255.hp2 HG01255.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0002 a0014c0017t0002	a0014c0017t0002g0072 a0014c0017t0002g0072	1	442	0.0023	c.26C others(2): Show c.26C>A	p.Thr others(4): Show p.Thr9Asn	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	1/11	68/2900	26/1179	9/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240868893	C C	A A	missense_variant missense_variant	MODERATE	NA18987.hp1 NA18987.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0002 a0018c0018t0002	a0018c0018t0002g0007 a0018c0018t0002g0007	1	442	0.0023	c.28C others(2): Show c.28C>A	p.Pro others(5): Show p.Pro10Thr	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	1/11	70/2900	28/1179	10/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240868897	C C	T T	missense_variant missense_variant	MODERATE	HG00733.hp2 HG00741.hp1 HG01069.hp2 others(16): Show HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01515.hp1 HG01517.hp1 HG01943.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG03139.hp2 HG03579.hp1 HG03710.hp1 NA20129.hp2	a0003 a0011 a0003 a0011	a0003c0004 a0011c0016 a0003c0004 a0011c0016	a0003c0004t0006 a0011c0016t0002 a0011c0016t0009 a0003c0004t0006 a0011c0016t0002 a0011c0016t0009	a0003c0004t0006g0011 a0003c0004t0006g0034 a0003c0004t0006g0035 others(3): Show a0003c0004t0006g0011 a0003c0004t0006g0034 a0003c0004t0006g0035 a0003c0004t0006g0054 a0011c0016t0002g0129 a0011c0016t0009g0128	19	442	0.0430	c.32C others(2): Show c.32C>T	p.Pro others(5): Show p.Pro11Leu	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	1/11	74/2900	32/1179	11/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240868930	A A	G G	missense_variant missense_variant	MODERATE	HG00558.hp1 HG02080.hp1 HG02257.hp2 others(28): Show HG00558.hp1 HG02080.hp1 HG02257.hp2 HG02698.hp1 HG02922.hp1 HG02922.hp2 HG03225.hp2 HG03486.hp1 HG03579.hp2 HG03831.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18944.hp2 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18966.hp2 NA18975.hp2 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19056.hp1	a0002 a0006 a0010 others(1): Show a0002 a0006 a0010 a0012	a0002c0003 a0002c0013 a0002c0027 others(3): Show a0002c0003 a0002c0013 a0002c0027 a0006c0007 a0010c0014 a0012c0015	a0002c0003t0005 a0002c0013t0005 a0002c0027t0005 others(6): Show a0002c0003t0005 a0002c0013t0005 a0002c0027t0005 a0006c0007t0007 a0006c0007t0009 a0010c0014t0008 a0010c0014t0011 a0012c0015t0002 a0012c0015t0003	a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 others(11): Show a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 a0002c0003t0005g0120 a0002c0003t0005g0123 a0002c0013t0005g0020 a0002c0027t0005g0006 a0006c0007t0007g0082 a0006c0007t0009g0027 a0006c0007t0009g0085 a0010c0014t0008g0084 a0010c0014t0011g0086 a0012c0015t0002g0122 a0012c0015t0003g0121	31	442	0.0701	c.65A others(2): Show c.65A>G	p.Asn others(5): Show p.Asn22Ser	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	1/11	107/2900	65/1179	22/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240869010	A A	C C	missense_variant missense_variant	MODERATE	NA19081.hp1 NA19081.hp1	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0002 a0019c0026t0002	a0019c0026t0002g0073 a0019c0026t0002g0073	1	442	0.0023	c.145 others(3): Show c.145A>C	p.Met others(5): Show p.Met49Leu	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	1/11	187/2900	145/1179	49/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240873011	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp1 HG02080.hp1 HG02698.hp1 others(21): Show HG00558.hp1 HG02080.hp1 HG02698.hp1 HG03831.hp2 HG04228.hp1 HG04228.hp2 NA18944.hp2 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18966.hp2 NA18975.hp2 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19056.hp1	a0002 a0012 a0002 a0012	a0002c0003 a0002c0013 a0002c0027 others(1): Show a0002c0003 a0002c0013 a0002c0027 a0012c0015	a0002c0003t0005 a0002c0013t0005 a0002c0027t0005 others(2): Show a0002c0003t0005 a0002c0013t0005 a0002c0027t0005 a0012c0015t0002 a0012c0015t0003	a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 others(6): Show a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 a0002c0003t0005g0120 a0002c0003t0005g0123 a0002c0013t0005g0020 a0002c0027t0005g0006 a0012c0015t0002g0122 a0012c0015t0003g0121	24	442	0.0543	c.557 others(3): Show c.557C>T	p.Ala others(6): Show p.Ala186Val	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	5/11	599/2900	557/1179	186/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240873044	G G	A A	missense_variant missense_variant	MODERATE	HG00558.hp1 HG02080.hp1 HG02698.hp1 others(21): Show HG00558.hp1 HG02080.hp1 HG02698.hp1 HG03831.hp2 HG04228.hp1 HG04228.hp2 NA18944.hp2 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18966.hp2 NA18975.hp2 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19056.hp1	a0002 a0012 a0002 a0012	a0002c0003 a0002c0013 a0002c0027 others(1): Show a0002c0003 a0002c0013 a0002c0027 a0012c0015	a0002c0003t0005 a0002c0013t0005 a0002c0027t0005 others(2): Show a0002c0003t0005 a0002c0013t0005 a0002c0027t0005 a0012c0015t0002 a0012c0015t0003	a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 others(6): Show a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 a0002c0003t0005g0120 a0002c0003t0005g0123 a0002c0013t0005g0020 a0002c0027t0005g0006 a0012c0015t0002g0122 a0012c0015t0003g0121	24	442	0.0543	c.590 others(3): Show c.590G>A	p.Arg others(6): Show p.Arg197Gln	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	5/11	632/2900	590/1179	197/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240875994	T T	C C	missense_variant missense_variant	MODERATE	HG02027.hp1 HG02602.hp1 HG03669.hp2 HG02027.hp1 HG02602.hp1 HG03669.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0002 a0007c0009t0001 a0007c0009t0002	a0007c0009t0001g0001 a0007c0009t0001g0045 a0007c0009t0002g0014 a0007c0009t0001g0001 a0007c0009t0001g0045 a0007c0009t0002g0014	3	442	0.0068	c.836 others(3): Show c.836T>C	p.Ile others(6): Show p.Ile279Thr	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	8/11	878/2900	836/1179	279/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240875997	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG03130.hp1 NA19240.hp2 HG02486.hp1 HG03130.hp1 NA19240.hp2	a0008 a0008	a0008c0010 a0008c0024 a0008c0010 a0008c0024	a0008c0010t0010 a0008c0024t0009 a0008c0010t0010 a0008c0024t0009	a0008c0010t0010g0051 a0008c0024t0009g0101 a0008c0010t0010g0051 a0008c0024t0009g0101	3	442	0.0068	c.839 others(3): Show c.839C>T	p.Ala others(6): Show p.Ala280Val	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	8/11	881/2900	839/1179	280/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240877556	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0015 a0009c0012t0015	a0009c0012t0015g0080 a0009c0012t0015g0081 a0009c0012t0015g0080 a0009c0012t0015g0081	2	442	0.0045	c.866 others(3): Show c.866G>A	p.Arg others(6): Show p.Arg289His	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	9/11	908/2900	866/1179	289/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240877573	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02109.hp2 HG02145.hp2 others(5): Show HG01884.hp2 HG02109.hp2 HG02145.hp2 HG02630.hp2 HG02922.hp2 HG03098.hp2 HG03579.hp2 NA18906.hp2	a0005 a0010 a0005 a0010	a0005c0005 a0010c0014 a0005c0005 a0010c0014	a0005c0005t0011 a0005c0005t0016 a0010c0014t0008 others(1): Show a0005c0005t0011 a0005c0005t0016 a0010c0014t0008 a0010c0014t0011	a0005c0005t0011g0023 a0005c0005t0011g0076 a0005c0005t0016g0023 others(3): Show a0005c0005t0011g0023 a0005c0005t0011g0076 a0005c0005t0016g0023 a0005c0005t0016g0118 a0010c0014t0008g0084 a0010c0014t0011g0086	8	442	0.0181	c.883 others(3): Show c.883G>A	p.Ala others(6): Show p.Ala295Thr	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	9/11	925/2900	883/1179	295/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240877621	G G	A A	missense_variant missense_variant	MODERATE	HG00597.hp1 HG00597.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0002 a0013c0020t0002	a0013c0020t0002g0021 a0013c0020t0002g0021	1	442	0.0023	c.931 others(3): Show c.931G>A	p.Val others(6): Show p.Val311Met	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	9/11	973/2900	931/1179	311/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240878055	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0008 a0017c0021t0008	a0017c0021t0008g0126 a0017c0021t0008g0126	1	442	0.0023	c.976 others(3): Show c.976G>A	p.Val others(6): Show p.Val326Ile	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	10/11	1018/2900	976/1179	326/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240878099	A A	G G	missense_variant missense_variant	MODERATE	HG00558.hp1 HG00733.hp2 HG00741.hp1 others(42): Show HG00558.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01943.hp2 HG02080.hp1 HG02148.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG03139.hp2 HG03831.hp2 HG04228.hp1 HG04228.hp2 NA18944.hp2 NA18948.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18966.hp2 NA18975.hp2 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19056.hp1 NA19087.hp1 NA20129.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0002c0013 a0002c0027 others(3): Show a0002c0003 a0002c0013 a0002c0027 a0003c0004 a0004c0006 a0004c0019	a0002c0003t0005 a0002c0013t0005 a0002c0027t0005 others(3): Show a0002c0003t0005 a0002c0013t0005 a0002c0027t0005 a0003c0004t0006 a0004c0006t0005 a0004c0019t0005	a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 others(11): Show a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0052 a0002c0003t0005g0120 a0002c0003t0005g0123 a0002c0013t0005g0020 a0002c0027t0005g0006 a0003c0004t0006g0011 a0003c0004t0006g0034 a0003c0004t0006g0035 a0003c0004t0006g0054 a0004c0006t0005g0025 a0004c0006t0005g0108 a0004c0019t0005g0091	45	442	0.1018	c.102 others(4): Show c.1020A>G	p.Ile others(6): Show p.Ile340Met	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	10/11	1062/2900	1020/1179	340/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240878137	C C	T T	missense_variant missense_variant	MODERATE	HG02004.hp2 HG02004.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0001 a0016c0023t0001	a0016c0023t0001g0005 a0016c0023t0001g0005	1	442	0.0023	c.105 others(4): Show c.1058C>T	p.Pro others(6): Show p.Pro353Leu	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	10/11	1100/2900	1058/1179	353/392	chr2	TogoVar
AGXT_chr2_240863824_240885500	240878765	C C	T T	missense_variant missense_variant	MODERATE	HG01928.hp2 HG01928.hp2	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0004 a0015c0022t0004	a0015c0022t0004g0004 a0015c0022t0004g0004	1	442	0.0023	c.112 others(4): Show c.1123C>T	p.Arg others(6): Show p.Arg375Cys	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	11/11	1165/2900	1123/1179	375/392	chr2	TogoVar
AHCTF1_chr1_246834098_246936948	246840993	G G	T T	missense_variant missense_variant	MODERATE	HG02027.hp1 HG02027.hp1	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0001 a0019c0023t0001	a0019c0023t0001g0126 a0019c0023t0001g0126	1	374	0.0027	c.661 others(4): Show c.6614C>A	p.Thr others(7): Show p.Thr2205Lys	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	36/36	6992/8887	6614/6801	2205/2266	chr1	TogoVar

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