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
AADACL3_chr1_12711110_12733760	12719652	G G	A A	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0042 a0012c0023t0042	a0012c0023t0042g0047 a0012c0023t0042g0047	1	430	0.0023	c.346 others(3): Show c.346G>A	p.Val others(6): Show p.Val116Met	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	2/4	413/4055	346/1224	116/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12719664	G G	A A	missense_variant missense_variant	MODERATE	NA19074.hp1 NA19074.hp1	a0020 a0020	a0020c0032 a0020c0032	a0020c0032t0001 a0020c0032t0001	a0020c0032t0001g0001 a0020c0032t0001g0001	1	430	0.0023	c.358 others(3): Show c.358G>A	p.Gly others(6): Show p.Gly120Ser	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	2/4	425/4055	358/1224	120/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12720904	C C	G G	missense_variant missense_variant	MODERATE	NA18962.hp1 NA18962.hp1	a0019 a0019	a0019c0029 a0019c0029	a0019c0029t0043 a0019c0029t0043	a0019c0029t0043g0012 a0019c0029t0043g0012	1	430	0.0023	c.407 others(3): Show c.407C>G	p.Ser others(6): Show p.Ser136Cys	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	3/4	474/4055	407/1224	136/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12725328	C C	T T	missense_variant missense_variant	MODERATE	HG00597.hp2 HG02071.hp1 NA18946.hp1 others(12): Show HG00597.hp2 HG02071.hp1 NA18946.hp1 NA18947.hp1 NA18955.hp1 NA18963.hp2 NA18965.hp1 NA18981.hp2 NA18983.hp1 NA18990.hp1 NA19000.hp2 NA19066.hp2 NA19084.hp2 NA19087.hp2 NA19089.hp2	a0006 a0006	a0006c0008 a0006c0015 a0006c0035 a0006c0008 a0006c0015 a0006c0035	a0006c0008t0008 a0006c0015t0012 a0006c0035t0012 a0006c0008t0008 a0006c0015t0012 a0006c0035t0012	a0006c0008t0008g0009 a0006c0008t0008g0036 a0006c0015t0012g0024 others(3): Show a0006c0008t0008g0009 a0006c0008t0008g0036 a0006c0015t0012g0024 a0006c0015t0012g0045 a0006c0015t0012g0114 a0006c0035t0012g0024	15	430	0.0349	c.556 others(3): Show c.556C>T	p.Arg others(6): Show p.Arg186Trp	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	4/4	623/4055	556/1224	186/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12725370	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0011 a0011	a0011c0034 a0011c0034	a0011c0034t0032 a0011c0034t0032	a0011c0034t0032g0128 a0011c0034t0032g0128	1	430	0.0023	c.598 others(3): Show c.598G>A	p.Ala others(6): Show p.Ala200Thr	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	4/4	665/4055	598/1224	200/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12725413	G G	A A	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0042 a0012c0023t0042	a0012c0023t0042g0047 a0012c0023t0042g0047	1	430	0.0023	c.641 others(3): Show c.641G>A	p.Arg others(6): Show p.Arg214Gln	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	4/4	708/4055	641/1224	214/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12725484	A A	G G	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0042 a0012c0023t0042	a0012c0023t0042g0047 a0012c0023t0042g0047	1	430	0.0023	c.712 others(3): Show c.712A>G	p.Arg others(6): Show p.Arg238Gly	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	4/4	779/4055	712/1224	238/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12725527	T T	G G	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(124): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG01069.hp1 HG01070.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18943.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19012.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0005 a0007 a0010 a0014 a0015 a0016	a0002c0003 a0002c0018 a0002c0019 others(14): Show a0002c0003 a0002c0018 a0002c0019 a0003c0005 a0003c0009 a0004c0007 a0004c0010 a0004c0024 a0005c0006 a0005c0014 a0005c0031 a0007c0011 a0007c0017 a0010c0036 a0014c0030 a0015c0025 a0016c0026	a0002c0003t0003 a0002c0003t0005 a0002c0003t0038 others(34): Show a0002c0003t0003 a0002c0003t0005 a0002c0003t0038 a0002c0018t0003 a0002c0018t0045 a0002c0019t0017 a0003c0005t0004 a0003c0005t0007 a0003c0005t0027 a0003c0009t0003 a0003c0009t0005 a0003c0009t0007 a0004c0007t0004 a0004c0007t0007 a0004c0007t0013 a0004c0007t0015 a0004c0007t0019 a0004c0010t0013 a0004c0010t0021 a0004c0024t0019 a0005c0006t0006 a0005c0006t0017 a0005c0006t0033 a0005c0006t0034 a0005c0006t0037 a0005c0006t0044 a0005c0014t0006 a0005c0031t0006 a0007c0011t0016 a0007c0011t0020 a0007c0017t0016 a0007c0017t0035 a0007c0017t0047 a0010c0036t0007 a0014c0030t0013 a0015c0025t0046 a0016c0026t0013	a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 others(58): Show a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 a0002c0003t0005g0005 a0002c0003t0005g0035 a0002c0003t0005g0071 a0002c0003t0005g0083 a0002c0003t0005g0085 a0002c0003t0005g0144 a0002c0003t0038g0005 a0002c0018t0003g0005 a0002c0018t0045g0086 a0002c0019t0017g0007 a0003c0005t0004g0003 a0003c0005t0004g0040 a0003c0005t0004g0092 a0003c0005t0004g0111 a0003c0005t0007g0003 a0003c0005t0007g0108 a0003c0005t0027g0129 a0003c0009t0003g0031 a0003c0009t0005g0139 a0003c0009t0007g0003 a0003c0009t0007g0005 a0004c0007t0004g0003 a0004c0007t0004g0042 a0004c0007t0004g0091 a0004c0007t0004g0107 a0004c0007t0007g0093 a0004c0007t0013g0125 a0004c0007t0015g0044 a0004c0007t0015g0104 a0004c0007t0015g0143 a0004c0007t0019g0043 a0004c0010t0013g0013 a0004c0010t0021g0013 a0004c0010t0021g0052 a0004c0010t0021g0056 a0004c0024t0019g0081 a0005c0006t0006g0007 a0005c0006t0006g0055 a0005c0006t0017g0048 a0005c0006t0017g0074 a0005c0006t0033g0054 a0005c0006t0034g0079 a0005c0006t0037g0067 a0005c0006t0044g0049 a0005c0014t0006g0014 a0005c0014t0006g0097 a0005c0031t0006g0014 a0007c0011t0016g0025 a0007c0011t0020g0053 a0007c0011t0020g0105 a0007c0011t0020g0106 a0007c0017t0016g0080 a0007c0017t0035g0078 a0007c0017t0047g0057 a0010c0036t0007g0040 a0014c0030t0013g0013 a0015c0025t0046g0050 a0016c0026t0013g0089	127	430	0.2953	c.755 others(3): Show c.755T>G	p.Phe others(6): Show p.Phe252Cys	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	4/4	822/4055	755/1224	252/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12725634	G G	A A	missense_variant missense_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0002 a0017c0027t0002	a0017c0027t0002g0142 a0017c0027t0002g0142	1	430	0.0023	c.862 others(3): Show c.862G>A	p.Glu others(6): Show p.Glu288Lys	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	4/4	929/4055	862/1224	288/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12725641	T T	A A	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0046 a0015c0025t0046	a0015c0025t0046g0050 a0015c0025t0046g0050	1	430	0.0023	c.869 others(3): Show c.869T>A	p.Ile others(6): Show p.Ile290Asn	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	4/4	936/4055	869/1224	290/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12725683	A A	G G	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0010 a0010	a0010c0036 a0010c0036	a0010c0036t0007 a0010c0036t0007	a0010c0036t0007g0040 a0010c0036t0007g0040	1	430	0.0023	c.911 others(3): Show c.911A>G	p.His others(6): Show p.His304Arg	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	4/4	978/4055	911/1224	304/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12725693	G G	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02559.hp1 HG02559.hp2 others(7): Show HG02055.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp2 HG02896.hp1 HG02897.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1	a0007 a0015 a0007 a0015	a0007c0011 a0007c0017 a0015c0025 a0007c0011 a0007c0017 a0015c0025	a0007c0011t0016 a0007c0011t0020 a0007c0017t0016 others(3): Show a0007c0011t0016 a0007c0011t0020 a0007c0017t0016 a0007c0017t0035 a0007c0017t0047 a0015c0025t0046	a0007c0011t0016g0025 a0007c0011t0020g0053 a0007c0011t0020g0105 others(5): Show a0007c0011t0016g0025 a0007c0011t0020g0053 a0007c0011t0020g0105 a0007c0011t0020g0106 a0007c0017t0016g0080 a0007c0017t0035g0078 a0007c0017t0047g0057 a0015c0025t0046g0050	10	430	0.0233	c.921 others(3): Show c.921G>T	p.Met others(6): Show p.Met307Ile	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	4/4	988/4055	921/1224	307/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12725715	G G	A A	missense_variant missense_variant	MODERATE	HG02818.hp2 HG02818.hp2	a0013 a0013	a0013c0028 a0013c0028	a0013c0028t0002 a0013c0028t0002	a0013c0028t0002g0075 a0013c0028t0002g0075	1	430	0.0023	c.943 others(3): Show c.943G>A	p.Val others(6): Show p.Val315Ile	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	4/4	1010/4055	943/1224	315/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12725777	G G	T T	missense_variant missense_variant	MODERATE	HG03579.hp1 HG03579.hp1	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0013 a0016c0026t0013	a0016c0026t0013g0089 a0016c0026t0013g0089	1	430	0.0023	c.100 others(4): Show c.1005G>T	p.Gln others(6): Show p.Gln335His	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	4/4	1072/4055	1005/1224	335/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12725782	C C	T T	missense_variant missense_variant	MODERATE	HG00642.hp1 HG01106.hp1 HG01192.hp1 others(20): Show HG00642.hp1 HG01106.hp1 HG01192.hp1 HG01243.hp1 HG01884.hp2 HG02145.hp2 HG02280.hp1 HG02572.hp2 HG02630.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 NA18522.hp1 NA18612.hp2 NA19240.hp1 NA20805.hp1	a0002 a0005 a0002 a0005	a0002c0019 a0005c0006 a0005c0014 others(1): Show a0002c0019 a0005c0006 a0005c0014 a0005c0031	a0002c0019t0017 a0005c0006t0006 a0005c0006t0017 others(6): Show a0002c0019t0017 a0005c0006t0006 a0005c0006t0017 a0005c0006t0033 a0005c0006t0034 a0005c0006t0037 a0005c0006t0044 a0005c0014t0006 a0005c0031t0006	a0002c0019t0017g0007 a0005c0006t0006g0007 a0005c0006t0006g0055 others(9): Show a0002c0019t0017g0007 a0005c0006t0006g0007 a0005c0006t0006g0055 a0005c0006t0017g0048 a0005c0006t0017g0074 a0005c0006t0033g0054 a0005c0006t0034g0079 a0005c0006t0037g0067 a0005c0006t0044g0049 a0005c0014t0006g0014 a0005c0014t0006g0097 a0005c0031t0006g0014	23	430	0.0535	c.101 others(4): Show c.1010C>T	p.Pro others(6): Show p.Pro337Leu	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	4/4	1077/4055	1010/1224	337/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12644571	C C	T T	missense_variant missense_variant	MODERATE	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0015 a0002c0007t0001g0015	1	308	0.0032	c.25C others(2): Show c.25C>T	p.Leu others(4): Show p.Leu9Phe	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/4	487/2027	25/1224	9/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661792	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.387 others(3): Show c.387T>G	p.Asp others(6): Show p.Asp129Glu	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	849/2027	387/1224	129/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661796	T T	A A	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.391 others(3): Show c.391T>A	p.Tyr others(6): Show p.Tyr131Asn	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	853/2027	391/1224	131/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661797	A A	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.392 others(3): Show c.392A>G	p.Tyr others(6): Show p.Tyr131Cys	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	854/2027	392/1224	131/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661799	C C	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.394 others(3): Show c.394C>G	p.His others(6): Show p.His132Asp	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	856/2027	394/1224	132/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661800	A A	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.395 others(3): Show c.395A>G	p.His others(6): Show p.His132Arg	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	857/2027	395/1224	132/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661801	T T	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.396 others(3): Show c.396T>G	p.His others(6): Show p.His132Gln	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	858/2027	396/1224	132/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661805	C C	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.400 others(3): Show c.400C>G	p.Leu others(6): Show p.Leu134Val	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	862/2027	400/1224	134/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661806	T T	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.401 others(3): Show c.401T>G	p.Leu others(6): Show p.Leu134Arg	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	863/2027	401/1224	134/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661808	T T	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.403 others(3): Show c.403T>G	p.Cys others(6): Show p.Cys135Gly	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	865/2027	403/1224	135/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661810	C C	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.405 others(3): Show c.405C>G	p.Cys others(6): Show p.Cys135Trp	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	867/2027	405/1224	135/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661811	A A	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.406 others(3): Show c.406A>G	p.Asn others(6): Show p.Asn136Asp	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	868/2027	406/1224	136/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661812	A A	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.407 others(3): Show c.407A>G	p.Asn others(6): Show p.Asn136Ser	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	869/2027	407/1224	136/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661813	T T	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.408 others(3): Show c.408T>G	p.Asn others(6): Show p.Asn136Lys	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	870/2027	408/1224	136/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661817	C C	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.412 others(3): Show c.412C>G	p.Leu others(6): Show p.Leu138Val	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	874/2027	412/1224	138/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661823	C C	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.418 others(3): Show c.418C>G	p.Arg others(6): Show p.Arg140Gly	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	880/2027	418/1224	140/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661827	A A	C C	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	c.422 others(3): Show c.422A>C	p.Glu others(6): Show p.Glu141Ala	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	884/2027	422/1224	141/407	chr1	TogoVar
AADAC_chr3_151809116_151833488	151817447	A A	G G	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00673.hp1 HG02074.hp2 others(4): Show HG00544.hp2 HG00673.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 NA18972.hp2	a0003 a0003	a0003c0003 a0003c0009 a0003c0003 a0003c0009	a0003c0003t0001 a0003c0009t0001 a0003c0003t0001 a0003c0009t0001	a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0108 others(3): Show a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0108 a0003c0003t0001g0110 a0003c0003t0001g0113 a0003c0009t0001g0041	7	438	0.0160	c.220 others(3): Show c.220A>G	p.Thr others(5): Show p.Thr74Ala	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding	2/5	267/1563	220/1200	74/399	chr3	TogoVar
AADAC_chr3_151809116_151833488	151827716	A A	T T	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0002 a0004c0008t0002g0002	1	438	0.0023	c.744 others(3): Show c.744A>T	p.Arg others(6): Show p.Arg248Ser	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding	5/5	791/1563	744/1200	248/399	chr3	TogoVar
AADAC_chr3_151809116_151833488	151827813	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(295): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0003c0003 a0003c0009 a0004c0008 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0002 a0001c0005t0001 a0003c0003t0001 a0003c0009t0001 a0004c0008t0002 a0005c0006t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 others(100): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0116 a0001c0001t0003g0044 a0001c0004t0002g0002 a0001c0004t0002g0010 a0001c0004t0002g0067 a0001c0005t0001g0018 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0108 a0003c0003t0001g0110 a0003c0003t0001g0113 a0003c0009t0001g0041 a0004c0008t0002g0002 a0005c0006t0001g0005	298	438	0.6804	c.841 others(3): Show c.841G>A	p.Val others(6): Show p.Val281Ile	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding	5/5	888/1563	841/1200	281/399	chr3	TogoVar
AADAC_chr3_151809116_151833488	151828041	C C	T T	missense_variant missense_variant	MODERATE	HG02293.hp2 HG02293.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0005 a0005c0006t0001g0005	1	438	0.0023	c.106 others(4): Show c.1069C>T	p.Arg others(6): Show p.Arg357Cys	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding	5/5	1116/1563	1069/1200	357/399	chr3	TogoVar
AAGAB_chr15_67195667_67259661	67208595	T T	C C	missense_variant missense_variant	MODERATE	HG03041.hp1 HG03453.hp1 HG03471.hp1 HG03041.hp1 HG03453.hp1 HG03471.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0311 a0003c0005t0004g0312 a0003c0005t0004g0313 a0003c0005t0004g0311 a0003c0005t0004g0312 a0003c0005t0004g0313	3	378	0.0079	c.682 others(3): Show c.682A>G	p.Asn others(6): Show p.Asn228Asp	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	7/10	712/3132	682/948	228/315	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67236036	T T	G G	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(165): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02602.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02922.hp2 HG03139.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18997.hp1 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0007 a0002c0002 a0004c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0004c0007t0002	a0002c0002t0001g0148 a0002c0002t0001g0295 a0002c0002t0002g0003 others(136): Show a0002c0002t0001g0148 a0002c0002t0001g0295 a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0044 a0002c0002t0002g0057 a0002c0002t0002g0065 a0002c0002t0002g0071 a0002c0002t0002g0076 a0002c0002t0002g0087 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0003g0001 a0002c0002t0003g0004 a0002c0002t0003g0009 a0002c0002t0003g0010 a0002c0002t0003g0023 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0143 a0002c0002t0003g0144 a0002c0002t0003g0145 a0002c0002t0003g0146 a0002c0002t0003g0147 a0002c0002t0003g0149 a0002c0002t0003g0150 a0002c0002t0003g0151 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0003g0154 a0002c0002t0003g0156 a0002c0002t0003g0157 a0002c0002t0003g0158 a0002c0002t0003g0159 a0002c0002t0003g0160 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0186 a0002c0002t0003g0187 a0002c0002t0003g0188 a0002c0002t0003g0189 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0199 a0002c0002t0003g0200 a0002c0002t0003g0201 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0003g0205 a0002c0002t0003g0206 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0316 a0002c0002t0007g0132 a0002c0002t0007g0133 a0002c0002t0007g0185 a0002c0002t0012g0129 a0002c0002t0012g0130 a0002c0002t0013g0136 a0002c0002t0013g0155 a0002c0002t0014g0105 a0004c0007t0002g0107	168	378	0.4444	c.394 others(3): Show c.394A>C	p.Ile others(6): Show p.Ile132Leu	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	4/10	424/3132	394/948	132/315	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67236440	A A	T T	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0107 a0004c0007t0002g0107	1	378	0.0026	c.329 others(3): Show c.329T>A	p.Met others(6): Show p.Met110Lys	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	3/10	359/3132	329/948	110/315	chr15	TogoVar
AAGAB_chr15_67195667_67259661	67254597	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0042 a0005c0006t0001g0042	1	378	0.0026	c.35G others(2): Show c.35G>A	p.Ser others(5): Show p.Ser12Asn	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/10	65/3132	35/948	12/315	chr15	TogoVar
AAK1_chr2_69452997_69648739	69496038	G G	C C	missense_variant missense_variant	MODERATE	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0004 a0002c0024t0004	a0002c0024t0004g0260 a0002c0024t0004g0260	1	296	0.0034	c.231 others(4): Show c.2312C>G	p.Pro others(6): Show p.Pro771Arg	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/22	2711/21157	2312/2886	771/961	chr2	TogoVar
AAK1_chr2_69452997_69648739	69496053	A A	G G	missense_variant missense_variant	MODERATE	HG00558.hp2 NA19077.hp1 HG00558.hp2 NA19077.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0011 a0002c0015t0003 a0002c0015t0011	a0002c0015t0003g0028 a0002c0015t0011g0112 a0002c0015t0003g0028 a0002c0015t0011g0112	2	296	0.0068	c.229 others(4): Show c.2297T>C	p.Val others(6): Show p.Val766Ala	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/22	2696/21157	2297/2886	766/961	chr2	TogoVar
AAK1_chr2_69452997_69648739	69509429	A A	G G	missense_variant missense_variant	MODERATE	HG01106.hp1 HG01952.hp2 HG01981.hp1 HG01106.hp1 HG01952.hp2 HG01981.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0009 a0005c0010t0009	a0005c0010t0009g0120 a0005c0010t0009g0140 a0005c0010t0009g0153 a0005c0010t0009g0120 a0005c0010t0009g0140 a0005c0010t0009g0153	3	296	0.0101	c.180 others(4): Show c.1808T>C	p.Val others(6): Show p.Val603Ala	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	14/22	2207/21157	1808/2886	603/961	chr2	TogoVar
AAK1_chr2_69452997_69648739	69514503	C C	T T	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0002 a0007c0022t0002	a0007c0022t0002g0084 a0007c0022t0002g0084	1	296	0.0034	c.174 others(4): Show c.1744G>A	p.Ala others(6): Show p.Ala582Thr	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	13/22	2143/21157	1744/2886	582/961	chr2	TogoVar
AAK1_chr2_69452997_69648739	69519010	C C	G G	missense_variant missense_variant	MODERATE	HG01433.hp1 HG01891.hp2 HG01928.hp2 others(5): Show HG01433.hp1 HG01891.hp2 HG01928.hp2 HG02109.hp2 HG02572.hp2 HG02965.hp2 HG03225.hp1 HG03471.hp2	a0003 a0004 a0003 a0004	a0003c0014 a0003c0020 a0003c0021 others(2): Show a0003c0014 a0003c0020 a0003c0021 a0004c0012 a0004c0013	a0003c0014t0025 a0003c0020t0079 a0003c0021t0146 others(4): Show a0003c0014t0025 a0003c0020t0079 a0003c0021t0146 a0004c0012t0032 a0004c0012t0057 a0004c0013t0039 a0004c0013t0102	a0003c0014t0025g0290 a0003c0014t0025g0291 a0003c0020t0079g0105 others(5): Show a0003c0014t0025g0290 a0003c0014t0025g0291 a0003c0020t0079g0105 a0003c0021t0146g0282 a0004c0012t0032g0283 a0004c0012t0057g0080 a0004c0013t0039g0284 a0004c0013t0102g0107	8	296	0.0270	c.144 others(4): Show c.1441G>C	p.Ala others(6): Show p.Ala481Pro	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	12/22	1840/21157	1441/2886	481/961	chr2	TogoVar
AAK1_chr2_69452997_69648739	69544478	C C	T T	missense_variant missense_variant	MODERATE	HG02132.hp2 NA19006.hp2 HG02132.hp2 NA19006.hp2	a0006 a0006	a0006c0017 a0006c0018 a0006c0017 a0006c0018	a0006c0017t0062 a0006c0018t0001 a0006c0017t0062 a0006c0018t0001	a0006c0017t0062g0068 a0006c0018t0001g0165 a0006c0017t0062g0068 a0006c0018t0001g0165	2	296	0.0068	c.349 others(3): Show c.349G>A	p.Gly others(6): Show p.Gly117Ser	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	4/22	748/21157	349/2886	117/961	chr2	TogoVar
AAMDC_chr11_77816144_77877352	77872220	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(66): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01256.hp2 HG01361.hp1 HG01433.hp1 HG01993.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02257.hp2 HG02273.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02886.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18957.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18972.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19068.hp1 NA19078.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0005 others(63): Show a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0005 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0024 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0068 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0004t0001g0030	69	380	0.1816	c.274 others(3): Show c.274G>A	p.Val others(5): Show p.Val92Met	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	4/4	390/522	274/369	92/122	chr11	TogoVar
AAMDC_chr11_77816144_77877352	77872295	G G	A A	missense_variant missense_variant	MODERATE	NA18951.hp2 NA18951.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0115 a0003c0005t0001g0115	1	380	0.0026	c.349 others(3): Show c.349G>A	p.Val others(6): Show p.Val117Ile	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	4/4	465/522	349/369	117/122	chr11	TogoVar
AAMP_chr2_218259129_218275137	218265060	G G	A A	missense_variant missense_variant	MODERATE	NA18995.hp1 NA19058.hp1 NA18995.hp1 NA19058.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0027 a0005c0005t0001g0027	2	398	0.0050	c.118 others(4): Show c.1189C>T	p.Arg others(6): Show p.Arg397Trp	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	10/11	1240/1760	1189/1305	397/434	chr2	TogoVar
AAMP_chr2_218259129_218275137	218266079	T T	C C	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01192.hp2 HG01346.hp1 others(15): Show HG01106.hp2 HG01192.hp2 HG01346.hp1 HG01981.hp1 HG02027.hp2 HG02129.hp1 HG02300.hp2 HG03831.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18959.hp2 NA18966.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19065.hp2 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0050 a0002c0002t0001g0055 a0002c0002t0001g0004 a0002c0002t0001g0050 a0002c0002t0001g0055	18	398	0.0452	c.748 others(3): Show c.748A>G	p.Ile others(6): Show p.Ile250Val	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	6/11	799/1760	748/1305	250/434	chr2	TogoVar

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