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
AAMP_chr2_218259129_218275137	218269393	G G	A A	missense_variant missense_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0054 a0003c0010t0001g0054	1	398	0.0025	c.263 others(3): Show c.263C>T	p.Ala others(5): Show p.Ala88Val	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/11	314/1760	263/1305	88/434	chr2	TogoVar
AAMP_chr2_218259129_218275137	218269394	C C	T T	missense_variant missense_variant	MODERATE	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0032 a0003c0008t0001g0032	1	398	0.0025	c.262 others(3): Show c.262G>A	p.Ala others(5): Show p.Ala88Thr	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/11	313/1760	262/1305	88/434	chr2	TogoVar
AAMP_chr2_218259129_218275137	218269525	G G	A A	missense_variant missense_variant	MODERATE	NA18959.hp1 NA19084.hp1 NA18959.hp1 NA19084.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0028 a0004c0006t0001g0028	2	398	0.0050	c.131 others(3): Show c.131C>T	p.Ala others(5): Show p.Ala44Val	AAMP	ENSG00000127837.10	transcript	ENST00000248450.9	protein_coding	2/11	182/1760	131/1305	44/434	chr2	TogoVar
AANAT_chr17_76462603_76475117	76468754	C C	T T	missense_variant missense_variant	MODERATE	HG01099.hp2 HG02622.hp1 HG03669.hp1 others(1): Show HG01099.hp2 HG02622.hp1 HG03669.hp1 NA18906.hp1	a0003 a0007 a0003 a0007	a0003c0005 a0003c0014 a0007c0013 a0003c0005 a0003c0014 a0007c0013	a0003c0005t0001 a0003c0014t0001 a0007c0013t0001 a0003c0005t0001 a0003c0014t0001 a0007c0013t0001	a0003c0005t0001g0009 a0003c0014t0001g0001 a0007c0013t0001g0015 a0003c0005t0001g0009 a0003c0014t0001g0001 a0007c0013t0001g0015	4	424	0.0094	c.8C> others(1): Show c.8C>T	p.Thr others(4): Show p.Thr3Met	AANAT	ENSG00000129673.10	transcript	ENST00000392492.8	protein_coding	2/4	208/971	8/624	3/207	chr17	TogoVar
AANAT_chr17_76462603_76475117	76468761	C C	G G	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00423.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0001 a0004c0012t0001g0001	1	424	0.0024	c.15C others(2): Show c.15C>G	p.Ser others(4): Show p.Ser5Arg	AANAT	ENSG00000129673.10	transcript	ENST00000392492.8	protein_coding	2/4	215/971	15/624	5/207	chr17	TogoVar
AANAT_chr17_76462603_76475117	76468903	C C	T T	missense_variant missense_variant	MODERATE	HG02129.hp2 HG02129.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0001 a0005c0010t0001g0001	1	424	0.0024	c.157 others(3): Show c.157C>T	p.Arg others(5): Show p.Arg53Cys	AANAT	ENSG00000129673.10	transcript	ENST00000392492.8	protein_coding	2/4	357/971	157/624	53/207	chr17	TogoVar
AANAT_chr17_76462603_76475117	76469270	G G	T T	missense_variant missense_variant	MODERATE	HG03669.hp1 HG03669.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0015 a0007c0013t0001g0015	1	424	0.0024	c.261 others(3): Show c.261G>T	p.Glu others(5): Show p.Glu87Asp	AANAT	ENSG00000129673.10	transcript	ENST00000392492.8	protein_coding	3/4	461/971	261/624	87/207	chr17	TogoVar
AANAT_chr17_76462603_76475117	76469699	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0002 a0006c0007t0001g0002	1	424	0.0024	c.353 others(3): Show c.353T>C	p.Ile others(6): Show p.Ile118Thr	AANAT	ENSG00000129673.10	transcript	ENST00000392492.8	protein_coding	4/4	553/971	353/624	118/207	chr17	TogoVar
AANAT_chr17_76462603_76475117	76469731	G G	A A	missense_variant missense_variant	MODERATE	HG00609.hp1 NA18943.hp2 NA18992.hp2 HG00609.hp1 NA18943.hp2 NA18992.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0011 a0002c0003t0001g0002 a0002c0003t0001g0011	3	424	0.0071	c.385 others(3): Show c.385G>A	p.Ala others(6): Show p.Ala129Thr	AANAT	ENSG00000129673.10	transcript	ENST00000392492.8	protein_coding	4/4	585/971	385/624	129/207	chr17	TogoVar
AAR2_chr20_36231478_36261933	36240301	G G	A A	missense_variant missense_variant	MODERATE	HG02135.hp2 HG02135.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0006 a0003c0006t0001g0006	1	296	0.0034	c.433 others(3): Show c.433G>A	p.Val others(6): Show p.Val145Met	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding	2/4	507/2417	433/1155	145/384	chr20	TogoVar
AAR2_chr20_36231478_36261933	36255666	T T	C C	missense_variant missense_variant	MODERATE	NA18956.hp1 NA18956.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0104 a0004c0008t0001g0104	1	296	0.0034	c.107 others(4): Show c.1076T>C	p.Phe others(6): Show p.Phe359Ser	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding	4/4	1150/2417	1076/1155	359/384	chr20	TogoVar
AAR2_chr20_36231478_36261933	36255683	G G	A A	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0010 a0002c0009t0010	a0002c0009t0010g0145 a0002c0009t0010g0145	1	296	0.0034	c.109 others(4): Show c.1093G>A	p.Ala others(6): Show p.Ala365Thr	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding	4/4	1167/2417	1093/1155	365/384	chr20	TogoVar
AARD_chr8_116933207_116949487	116938499	G G	A A	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02486.hp2 HG02257.hp2 HG02486.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0014 a0006c0007t0001 a0006c0007t0014	a0006c0007t0001g0039 a0006c0007t0014g0038 a0006c0007t0001g0039 a0006c0007t0014g0038	2	440	0.0045	c.256 others(3): Show c.256G>A	p.Ala others(5): Show p.Ala86Thr	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/2	293/2291	256/468	86/155	chr8	TogoVar
AARD_chr8_116933207_116949487	116938500	C C	A A	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02486.hp2 HG02257.hp2 HG02486.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0014 a0006c0007t0001 a0006c0007t0014	a0006c0007t0001g0039 a0006c0007t0014g0038 a0006c0007t0001g0039 a0006c0007t0014g0038	2	440	0.0045	c.257 others(3): Show c.257C>A	p.Ala others(5): Show p.Ala86Glu	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/2	294/2291	257/468	86/155	chr8	TogoVar
AARD_chr8_116933207_116949487	116938519	G G	T T	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp2 HG02300.hp2 others(1): Show HG01070.hp1 HG01071.hp2 HG02300.hp2 NA20805.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0001 a0004c0006t0001g0001	4	440	0.0091	c.276 others(3): Show c.276G>T	p.Gln others(5): Show p.Gln92His	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/2	313/2291	276/468	92/155	chr8	TogoVar
AARD_chr8_116933207_116949487	116938529	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(116): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18941.hp1 NA18946.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18963.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18976.hp2 NA18982.hp2 NA18986.hp2 NA18989.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19012.hp2 NA19067.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0018 a0006c0007t0001 a0006c0007t0014	a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0013 others(19): Show a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0013 a0002c0002t0001g0033 a0002c0002t0001g0037 a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0002t0002g0021 a0002c0002t0002g0036 a0002c0002t0003g0003 a0002c0002t0004g0005 a0002c0002t0004g0007 a0002c0002t0004g0035 a0002c0002t0005g0002 a0002c0002t0006g0005 a0002c0002t0007g0005 a0002c0002t0010g0016 a0002c0002t0011g0002 a0002c0002t0012g0005 a0002c0002t0018g0002 a0006c0007t0001g0039 a0006c0007t0014g0038	119	440	0.2705	c.286 others(3): Show c.286G>C	p.Gly others(5): Show p.Gly96Arg	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	1/2	323/2291	286/468	96/155	chr8	TogoVar
AARD_chr8_116933207_116949487	116942571	T T	C C	missense_variant missense_variant	MODERATE	HG00423.hp1 HG02040.hp2 HG02132.hp1 others(6): Show HG00423.hp1 HG02040.hp2 HG02132.hp1 NA18946.hp1 NA18981.hp1 NA18984.hp2 NA18988.hp1 NA19056.hp2 NA19066.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0013 a0003c0003t0001 a0003c0003t0003 a0003c0003t0013	a0003c0003t0001g0025 a0003c0003t0003g0008 a0003c0003t0013g0008 a0003c0003t0001g0025 a0003c0003t0003g0008 a0003c0003t0013g0008	9	440	0.0205	c.338 others(3): Show c.338T>C	p.Phe others(6): Show p.Phe113Ser	AARD	ENSG00000205002.4	transcript	ENST00000378279.4	protein_coding	2/2	375/2291	338/468	113/155	chr8	TogoVar
AARS1_chr16_70247298_70294506	70252728	T T	A A	missense_variant missense_variant	MODERATE	HG01192.hp2 HG02683.hp1 HG01192.hp2 HG02683.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0317 a0004c0006t0001g0318 a0004c0006t0001g0317 a0004c0006t0001g0318	2	360	0.0056	c.290 others(4): Show c.2900A>T	p.Lys others(6): Show p.Lys967Met	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	21/21	3007/3437	2900/2907	967/968	chr16	TogoVar
AARS1_chr16_70247298_70294506	70252837	C C	T T	missense_variant missense_variant	MODERATE	HG02602.hp2 HG02602.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0263 a0005c0011t0001g0263	1	360	0.0028	c.279 others(4): Show c.2791G>A	p.Gly others(6): Show p.Gly931Ser	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	21/21	2898/3437	2791/2907	931/968	chr16	TogoVar
AARS1_chr16_70247298_70294506	70258044	G G	T T	missense_variant missense_variant	MODERATE	NA18906.hp2 NA18906.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0334 a0009c0009t0001g0334	1	360	0.0028	c.216 others(4): Show c.2166C>A	p.Phe others(6): Show p.Phe722Leu	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/21	2273/3437	2166/2907	722/968	chr16	TogoVar
AARS1_chr16_70247298_70294506	70258157	C C	T T	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03654.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0008 a0008c0015t0001g0008	1	360	0.0028	c.205 others(4): Show c.2053G>A	p.Val others(6): Show p.Val685Met	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/21	2160/3437	2053/2907	685/968	chr16	TogoVar
AARS1_chr16_70247298_70294506	70258183	G G	A A	missense_variant missense_variant	MODERATE	HG03239.hp2 HG03239.hp2	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0027 a0007c0017t0001g0027	1	360	0.0028	c.202 others(4): Show c.2027C>T	p.Ala others(6): Show p.Ala676Val	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/21	2134/3437	2027/2907	676/968	chr16	TogoVar
AARS1_chr16_70247298_70294506	70259090	A A	T T	missense_variant missense_variant	MODERATE	NA18988.hp1 NA18988.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0110 a0010c0014t0001g0110	1	360	0.0028	c.188 others(4): Show c.1882T>A	p.Leu others(6): Show p.Leu628Met	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	14/21	1989/3437	1882/2907	628/968	chr16	TogoVar
AARS1_chr16_70247298_70294506	70261144	G G	A A	missense_variant missense_variant	MODERATE	NA20129.hp2 NA20129.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0015 a0011c0018t0001g0015	1	360	0.0028	c.168 others(4): Show c.1685C>T	p.Thr others(6): Show p.Thr562Ile	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/21	1792/3437	1685/2907	562/968	chr16	TogoVar
AARS1_chr16_70247298_70294506	70269756	C C	T T	missense_variant missense_variant	MODERATE	HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show HG01433.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0002 a0009 a0002 a0009	a0002c0004 a0009c0009 a0002c0004 a0009c0009	a0002c0004t0001 a0009c0009t0001 a0002c0004t0001 a0009c0009t0001	a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0336 others(22): Show a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0336 a0002c0004t0001g0337 a0002c0004t0001g0338 a0002c0004t0001g0339 a0002c0004t0001g0340 a0002c0004t0001g0341 a0002c0004t0001g0342 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0009c0009t0001g0334	25	360	0.0694	c.824 others(3): Show c.824G>A	p.Gly others(6): Show p.Gly275Asp	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/21	931/3437	824/2907	275/968	chr16	TogoVar
AARS1_chr16_70247298_70294506	70276535	C C	T T	missense_variant missense_variant	MODERATE	HG02976.hp1 HG02976.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0167 a0006c0008t0001g0167	1	360	0.0028	c.430 others(3): Show c.430G>A	p.Ala others(6): Show p.Ala144Thr	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/21	537/3437	430/2907	144/968	chr16	TogoVar
AARS1_chr16_70247298_70294506	70282700	C C	T T	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02818.hp2 HG03486.hp2 others(1): Show HG02723.hp2 HG02818.hp2 HG03486.hp2 HG06807.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0152 a0003c0005t0001g0153 a0003c0005t0001g0154 others(1): Show a0003c0005t0001g0152 a0003c0005t0001g0153 a0003c0005t0001g0154 a0003c0005t0001g0191	4	360	0.0111	c.64G others(2): Show c.64G>A	p.Glu others(5): Show p.Glu22Lys	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	2/21	171/3437	64/2907	22/968	chr16	TogoVar
AARS2_chr6_44293731_44318347	44302110	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02572.hp1 HG03041.hp1 others(2): Show HG02258.hp1 HG02572.hp1 HG03041.hp1 HG03471.hp1 HG06807.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0013 a0004c0005t0006g0013	5	394	0.0127	c.254 others(4): Show c.2548A>G	p.Met others(6): Show p.Met850Val	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	19/22	2572/4798	2548/2958	850/985	chr6	TogoVar
AARS2_chr6_44293731_44318347	44302136	C C	T T	missense_variant missense_variant	MODERATE	NA19010.hp1 NA19010.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0067 a0014c0016t0001g0067	1	394	0.0025	c.252 others(4): Show c.2522G>A	p.Arg others(6): Show p.Arg841Gln	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	19/22	2546/4798	2522/2958	841/985	chr6	TogoVar
AARS2_chr6_44293731_44318347	44302438	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02922.hp1 HG03225.hp1 HG01891.hp1 HG02922.hp1 HG03225.hp1	a0007 a0011 a0007 a0011	a0007c0009 a0011c0013 a0007c0009 a0011c0013	a0007c0009t0012 a0011c0013t0022 a0007c0009t0012 a0011c0013t0022	a0007c0009t0012g0033 a0011c0013t0022g0078 a0007c0009t0012g0033 a0011c0013t0022g0078	3	394	0.0076	c.244 others(4): Show c.2440G>A	p.Val others(6): Show p.Val814Met	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	18/22	2464/4798	2440/2958	814/985	chr6	TogoVar
AARS2_chr6_44293731_44318347	44302452	A A	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02922.hp1 HG03225.hp1 HG01891.hp1 HG02922.hp1 HG03225.hp1	a0007 a0011 a0007 a0011	a0007c0009 a0011c0013 a0007c0009 a0011c0013	a0007c0009t0012 a0011c0013t0022 a0007c0009t0012 a0011c0013t0022	a0007c0009t0012g0033 a0011c0013t0022g0078 a0007c0009t0012g0033 a0011c0013t0022g0078	3	394	0.0076	c.242 others(4): Show c.2426T>A	p.Leu others(6): Show p.Leu809Gln	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	18/22	2450/4798	2426/2958	809/985	chr6	TogoVar
AARS2_chr6_44293731_44318347	44302462	G G	A A	missense_variant missense_variant	MODERATE	HG03942.hp1 HG04199.hp1 HG03942.hp1 HG04199.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0041 a0008c0010t0002g0041	2	394	0.0051	c.241 others(4): Show c.2416C>T	p.Arg others(6): Show p.Arg806Trp	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	18/22	2440/4798	2416/2958	806/985	chr6	TogoVar
AARS2_chr6_44293731_44318347	44303133	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp2 HG01243.hp2 HG01516.hp2 others(1): Show HG00280.hp2 HG01243.hp2 HG01516.hp2 HG01517.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0019 a0005c0008t0001g0019	4	394	0.0102	c.218 others(4): Show c.2188G>A	p.Val others(6): Show p.Val730Met	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	16/22	2212/4798	2188/2958	730/985	chr6	TogoVar
AARS2_chr6_44293731_44318347	44303398	C C	T T	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0007 a0012c0015t0007	a0012c0015t0007g0079 a0012c0015t0007g0079	1	394	0.0025	c.203 others(4): Show c.2033G>A	p.Arg others(6): Show p.Arg678Gln	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	15/22	2057/4798	2033/2958	678/985	chr6	TogoVar
AARS2_chr6_44293731_44318347	44305675	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02723.hp2 NA18906.hp2 others(1): Show HG02451.hp1 HG02723.hp2 NA18906.hp2 NA20129.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0009 a0006c0007t0009	a0006c0007t0009g0018 a0006c0007t0009g0018	4	394	0.0102	c.141 others(4): Show c.1412G>A	p.Arg others(6): Show p.Arg471Gln	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	10/22	1436/4798	1412/2958	471/985	chr6	TogoVar
AARS2_chr6_44293731_44318347	44306384	T T	C C	missense_variant missense_variant	MODERATE	HG01891.hp1 HG03225.hp1 HG01891.hp1 HG03225.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0012 a0007c0009t0012	a0007c0009t0012g0033 a0007c0009t0012g0033	2	394	0.0051	c.119 others(4): Show c.1196A>G	p.Asn others(6): Show p.Asn399Ser	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	9/22	1220/4798	1196/2958	399/985	chr6	TogoVar
AARS2_chr6_44293731_44318347	44306520	G G	A A	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02809.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0046 a0010c0019t0001g0046	1	394	0.0025	c.116 others(4): Show c.1162C>T	p.Pro others(6): Show p.Pro388Ser	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	8/22	1186/4798	1162/2958	388/985	chr6	TogoVar
AARS2_chr6_44293731_44318347	44307274	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.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 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(10): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0011 others(15): Show a0001c0001 a0001c0002 a0001c0011 a0001c0017 a0001c0018 a0001c0020 a0003c0004 a0004c0005 a0005c0008 a0006c0007 a0007c0009 a0008c0010 a0009c0022 a0010c0019 a0011c0013 a0012c0015 a0013c0021 a0014c0016	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(29): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0010 a0001c0002t0015 a0001c0002t0019 a0001c0002t0020 a0001c0002t0023 a0001c0011t0005 a0001c0017t0021 a0001c0018t0003 a0001c0020t0001 a0003c0004t0001 a0004c0005t0006 a0005c0008t0001 a0006c0007t0009 a0007c0009t0012 a0008c0010t0002 a0009c0022t0001 a0010c0019t0001 a0011c0013t0022 a0012c0015t0007 a0013c0021t0001 a0014c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(78): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0005g0004 a0001c0001t0006g0009 a0001c0001t0006g0034 a0001c0001t0011g0028 a0001c0001t0014g0056 a0001c0001t0016g0057 a0001c0001t0018g0053 a0001c0001t0024g0083 a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0026 a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0073 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0003g0003 a0001c0002t0003g0016 a0001c0002t0003g0021 a0001c0002t0003g0044 a0001c0002t0003g0052 a0001c0002t0003g0069 a0001c0002t0003g0072 a0001c0002t0007g0014 a0001c0002t0010g0038 a0001c0002t0015g0090 a0001c0002t0019g0088 a0001c0002t0020g0071 a0001c0002t0023g0082 a0001c0011t0005g0036 a0001c0017t0021g0054 a0001c0018t0003g0070 a0001c0020t0001g0064 a0003c0004t0001g0012 a0004c0005t0006g0013 a0005c0008t0001g0019 a0006c0007t0009g0018 a0007c0009t0012g0033 a0008c0010t0002g0041 a0009c0022t0001g0098 a0010c0019t0001g0046 a0011c0013t0022g0078 a0012c0015t0007g0079 a0013c0021t0001g0065 a0014c0016t0001g0067	358	394	0.9086	c.101 others(4): Show c.1015A>G	p.Ile others(6): Show p.Ile339Val	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	6/22	1039/4798	1015/2958	339/985	chr6	TogoVar
AARS2_chr6_44293731_44318347	44310332	G G	T T	missense_variant missense_variant	MODERATE	HG01243.hp1 HG03453.hp2 HG03471.hp2 others(2): Show HG01243.hp1 HG03453.hp2 HG03471.hp2 NA19030.hp2 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0012 a0003c0004t0001g0012	5	394	0.0127	c.861 others(3): Show c.861C>A	p.Asp others(6): Show p.Asp287Glu	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	5/22	885/4798	861/2958	287/985	chr6	TogoVar
AARS2_chr6_44293731_44318347	44311129	G G	C C	missense_variant missense_variant	MODERATE	NA18939.hp1 NA18939.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0065 a0013c0021t0001g0065	1	394	0.0025	c.614 others(3): Show c.614C>G	p.Pro others(6): Show p.Pro205Arg	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	4/22	638/4798	614/2958	205/985	chr6	TogoVar
AARS2_chr6_44293731_44318347	44313287	G G	A A	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00621.hp2	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0001 a0009c0022t0001	a0009c0022t0001g0098 a0009c0022t0001g0098	1	394	0.0025	c.37C others(2): Show c.37C>T	p.Arg others(5): Show p.Arg13Trp	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	1/22	61/4798	37/2958	13/985	chr6	TogoVar
AARSD1_chr17_42945526_42969454	42950655	G G	A A	missense_variant missense_variant	MODERATE	HG03225.hp1 HG03225.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0050 a0007c0006t0001g0050	1	322	0.0031	c.117 others(4): Show c.1177C>T	p.Arg others(6): Show p.Arg393Trp	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding	12/12	1191/1320	1177/1239	393/412	chr17	TogoVar
AARSD1_chr17_42945526_42969454	42954966	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01243.hp1 HG03486.hp1 HG01243.hp1 HG03486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0119 a0004c0005t0001g0150 a0004c0005t0001g0119 a0004c0005t0001g0150	2	322	0.0062	c.863 others(3): Show c.863A>G	p.Asn others(6): Show p.Asn288Ser	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding	9/12	877/1320	863/1239	288/412	chr17	TogoVar
AARSD1_chr17_42945526_42969454	42955903	G G	A A	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02698.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0082 a0006c0009t0001g0082	1	322	0.0031	c.733 others(3): Show c.733C>T	p.Arg others(6): Show p.Arg245Trp	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding	7/12	747/1320	733/1239	245/412	chr17	TogoVar
AARSD1_chr17_42945526_42969454	42956457	G G	A A	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0097 a0008c0011t0001g0097	1	322	0.0031	c.493 others(3): Show c.493C>T	p.Arg others(6): Show p.Arg165Trp	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding	5/12	507/1320	493/1239	165/412	chr17	TogoVar
AARSD1_chr17_42945526_42969454	42961303	G G	A A	missense_variant missense_variant	MODERATE	HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0037 a0002c0003t0001g0144 a0002c0003t0001g0037 a0002c0003t0001g0144	3	322	0.0093	c.220 others(3): Show c.220C>T	p.Arg others(5): Show p.Arg74Cys	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding	3/12	234/1320	220/1239	74/412	chr17	TogoVar
AARSD1_chr17_42945526_42969454	42961342	G G	A A	missense_variant missense_variant	MODERATE	NA18970.hp1 NA19077.hp1 NA19087.hp2 NA18970.hp1 NA19077.hp1 NA19087.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0038 a0003c0004t0001g0145 a0003c0004t0001g0038 a0003c0004t0001g0145	3	322	0.0093	c.181 others(3): Show c.181C>T	p.Arg others(5): Show p.Arg61Cys	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding	3/12	195/1320	181/1239	61/412	chr17	TogoVar
AARSD1_chr17_42945526_42969454	42961348	C C	G G	missense_variant missense_variant	MODERATE	HG00558.hp1 HG00558.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0065 a0005c0007t0001g0065	1	322	0.0031	c.175 others(3): Show c.175G>C	p.Asp others(5): Show p.Asp59His	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding	3/12	189/1320	175/1239	59/412	chr17	TogoVar
AASDHPPT_chr11_106072662_106103695	106094644	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0035 a0002c0004t0006g0035	1	402	0.0025	c.755 others(3): Show c.755G>C	p.Arg others(6): Show p.Arg252Thr	AASDHPPT	ENSG00000149313.11	transcript	ENST00000278618.9	protein_coding	5/6	804/2767	755/930	252/309	chr11	TogoVar
AASDH_chr4_56333290_56392491	56338591	C C	T T	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0001 a0017c0017t0001	a0017c0017t0001g0211 a0017c0017t0001g0211	1	380	0.0026	c.310 others(4): Show c.3108G>A	p.Met others(7): Show p.Met1036Ile	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	15/15	3280/3581	3108/3297	1036/1098	chr4	TogoVar

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