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
AGBL4_chr1_48527854_50028954	48539679	C C	T T	missense_variant missense_variant	MODERATE	HG01943.hp1 HG02647.hp1 HG02717.hp1 others(6): Show HG01943.hp1 HG02647.hp1 HG02717.hp1 HG02896.hp1 HG02976.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0010 a0002c0003 a0005c0010	a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 others(2): Show a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0003t0008 a0005c0010t0008	a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0015 others(6): Show a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0015 a0002c0003t0001g0059 a0002c0003t0001g0070 a0002c0003t0005g0017 a0002c0003t0007g0061 a0002c0003t0008g0088 a0005c0010t0008g0023	9	104	0.0865	c.132 others(4): Show c.1327G>A	p.Val others(6): Show p.Val443Met	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	12/14	1485/2989	1327/1512	443/503	chr1	TogoVar
AGBL4_chr1_48527854_50028954	48587147	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp1 HG03453.hp2 HG02559.hp1 HG03453.hp2	a0003 a0003	a0003c0006 a0003c0009 a0003c0006 a0003c0009	a0003c0006t0004 a0003c0009t0004 a0003c0006t0004 a0003c0009t0004	a0003c0006t0004g0071 a0003c0009t0004g0020 a0003c0006t0004g0071 a0003c0009t0004g0020	2	104	0.0192	c.112 others(4): Show c.1124G>A	p.Arg others(6): Show p.Arg375Gln	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	11/14	1282/2989	1124/1512	375/503	chr1	TogoVar
AGBL4_chr1_48527854_50028954	48663232	C C	T T	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02970.hp2 HG02622.hp1 HG02970.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0008 a0004c0005t0001 a0004c0005t0008	a0004c0005t0001g0060 a0004c0005t0008g0046 a0004c0005t0001g0060 a0004c0005t0008g0046	2	104	0.0192	c.644 others(3): Show c.644G>A	p.Arg others(6): Show p.Arg215Gln	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	7/14	802/2989	644/1512	215/503	chr1	TogoVar
AGBL4_chr1_48527854_50028954	49045639	C C	T T	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0004	a0006c0008t0004g0094 a0006c0008t0004g0094	1	104	0.0096	c.539 others(3): Show c.539G>A	p.Ser others(6): Show p.Ser180Asn	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	5/14	697/2989	539/1512	180/503	chr1	TogoVar
AGBL4_chr1_48527854_50028954	49697380	G G	A A	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0008 a0005c0010t0008	a0005c0010t0008g0023 a0005c0010t0008g0023	1	104	0.0096	c.215 others(3): Show c.215C>T	p.Pro others(5): Show p.Pro72Leu	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/14	373/2989	215/1512	72/503	chr1	TogoVar
AGBL5_chr2_27046668_27075618	27054631	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0021 a0006c0014t0001g0021	1	332	0.0030	c.553 others(3): Show c.553C>T	p.Pro others(6): Show p.Pro185Ser	AGBL5	ENSG00000084693.16	transcript	ENST00000360131.5	protein_coding	5/15	725/3188	553/2661	185/886	chr2	TogoVar
AGBL5_chr2_27046668_27075618	27054682	G G	A A	missense_variant missense_variant	MODERATE	HG00738.hp1 HG02922.hp2 HG02970.hp1 others(1): Show HG00738.hp1 HG02922.hp2 HG02970.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0041 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0041 a0002c0003t0001g0164 a0002c0003t0001g0165	4	332	0.0120	c.604 others(3): Show c.604G>A	p.Gly others(6): Show p.Gly202Arg	AGBL5	ENSG00000084693.16	transcript	ENST00000360131.5	protein_coding	5/15	776/3188	604/2661	202/886	chr2	TogoVar
AGBL5_chr2_27046668_27075618	27058518	T T	C C	missense_variant missense_variant	MODERATE	NA18944.hp2 NA18944.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0148 a0008c0008t0001g0148	1	332	0.0030	c.179 others(4): Show c.1790T>C	p.Val others(6): Show p.Val597Ala	AGBL5	ENSG00000084693.16	transcript	ENST00000360131.5	protein_coding	10/15	1962/3188	1790/2661	597/886	chr2	TogoVar
AGBL5_chr2_27046668_27075618	27059261	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp2 HG06807.hp1 NA18906.hp1 HG03130.hp2 HG06807.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0042 a0003c0004t0001g0166 a0003c0004t0001g0042 a0003c0004t0001g0166	3	332	0.0090	c.194 others(4): Show c.1946G>A	p.Gly others(6): Show p.Gly649Asp	AGBL5	ENSG00000084693.16	transcript	ENST00000360131.5	protein_coding	11/15	2118/3188	1946/2661	649/886	chr2	TogoVar
AGBL5_chr2_27046668_27075618	27059398	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00099.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0114 a0005c0009t0001g0114	1	332	0.0030	c.208 others(4): Show c.2083G>A	p.Val others(6): Show p.Val695Ile	AGBL5	ENSG00000084693.16	transcript	ENST00000360131.5	protein_coding	11/15	2255/3188	2083/2661	695/886	chr2	TogoVar
AGBL5_chr2_27046668_27075618	27069592	G G	A A	missense_variant missense_variant	MODERATE	HG01074.hp2 HG03486.hp1 HG01074.hp2 HG03486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0035 a0004c0005t0001g0035	2	332	0.0060	c.237 others(4): Show c.2375G>A	p.Arg others(6): Show p.Arg792Gln	AGBL5	ENSG00000084693.16	transcript	ENST00000360131.5	protein_coding	14/15	2547/3188	2375/2661	792/886	chr2	TogoVar
AGBL5_chr2_27046668_27075618	27069655	G G	A A	missense_variant missense_variant	MODERATE	NA19012.hp2 NA19012.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0058 a0009c0010t0001g0058	1	332	0.0030	c.243 others(4): Show c.2438G>A	p.Arg others(6): Show p.Arg813Gln	AGBL5	ENSG00000084693.16	transcript	ENST00000360131.5	protein_coding	14/15	2610/3188	2438/2661	813/886	chr2	TogoVar
AGBL5_chr2_27046668_27075618	27070121	G G	A A	missense_variant missense_variant	MODERATE	HG03831.hp1 HG03831.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0001 a0007c0011t0002g0001	1	332	0.0030	c.251 others(4): Show c.2519G>A	p.Arg others(6): Show p.Arg840His	AGBL5	ENSG00000084693.16	transcript	ENST00000360131.5	protein_coding	15/15	2691/3188	2519/2661	840/886	chr2	TogoVar
AGER_chr6_32175969_32189253	32181363	C C	T T	missense_variant missense_variant	MODERATE	HG01934.hp2 HG01975.hp2 HG01993.hp2 others(4): Show HG01934.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02071.hp2 HG02148.hp1 NA18989.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0015 a0003c0004t0001g0015	7	460	0.0152	c.110 others(4): Show c.1106G>A	p.Arg others(6): Show p.Arg369Gln	AGER	ENSG00000204305.16	transcript	ENST00000375076.9	protein_coding	10/11	1137/1420	1106/1215	369/404	chr6	TogoVar
AGER_chr6_32175969_32189253	32181372	C C	T T	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0028 a0004c0010t0001g0028	1	460	0.0022	c.109 others(4): Show c.1097G>A	p.Arg others(6): Show p.Arg366Gln	AGER	ENSG00000204305.16	transcript	ENST00000375076.9	protein_coding	10/11	1128/1420	1097/1215	366/404	chr6	TogoVar
AGER_chr6_32175969_32189253	32181373	G G	A A	missense_variant missense_variant	MODERATE	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0032 a0004c0011t0001g0032	1	460	0.0022	c.109 others(4): Show c.1096C>T	p.Arg others(6): Show p.Arg366Trp	AGER	ENSG00000204305.16	transcript	ENST00000375076.9	protein_coding	10/11	1127/1420	1096/1215	366/404	chr6	TogoVar
AGER_chr6_32175969_32189253	32182270	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0027 a0006c0009t0001g0027	1	460	0.0022	c.941 others(3): Show c.941G>A	p.Arg others(6): Show p.Arg314His	AGER	ENSG00000204305.16	transcript	ENST00000375076.9	protein_coding	8/11	972/1420	941/1215	314/404	chr6	TogoVar
AGER_chr6_32175969_32189253	32182309	C C	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0026 a0007c0008t0001g0026	1	460	0.0022	c.902 others(3): Show c.902G>C	p.Cys others(6): Show p.Cys301Ser	AGER	ENSG00000204305.16	transcript	ENST00000375076.9	protein_coding	8/11	933/1420	902/1215	301/404	chr6	TogoVar
AGER_chr6_32175969_32189253	32182579	A A	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0026 a0007c0008t0001g0026	1	460	0.0022	c.811 others(3): Show c.811T>A	p.Trp others(6): Show p.Trp271Arg	AGER	ENSG00000204305.16	transcript	ENST00000375076.9	protein_coding	7/11	842/1420	811/1215	271/404	chr6	TogoVar
AGER_chr6_32175969_32189253	32183666	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(35): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00609.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp1 HG02523.hp1 HG02698.hp1 NA18943.hp1 NA18944.hp2 NA18949.hp2 NA18961.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18973.hp2 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18999.hp1 NA19007.hp1 NA19011.hp1 NA19054.hp2 NA19057.hp1 NA19064.hp1 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19082.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	38	460	0.0826	c.244 others(3): Show c.244G>A	p.Gly others(5): Show p.Gly82Ser	AGER	ENSG00000204305.16	transcript	ENST00000375076.9	protein_coding	3/11	275/1420	244/1215	82/404	chr6	TogoVar
AGER_chr6_32175969_32189253	32183957	G G	A A	missense_variant missense_variant	MODERATE	NA18941.hp1 NA18955.hp2 NA18941.hp1 NA18955.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0019 a0005c0007t0001g0019	2	460	0.0043	c.83C others(2): Show c.83C>T	p.Ala others(5): Show p.Ala28Val	AGER	ENSG00000204305.16	transcript	ENST00000375076.9	protein_coding	2/11	114/1420	83/1215	28/404	chr6	TogoVar
AGFG1_chr2_227467156_227566217	227533711	A A	G G	missense_variant missense_variant	MODERATE	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0013 a0003c0008t0013	a0003c0008t0013g0080 a0003c0008t0013g0080	1	326	0.0031	c.977 others(3): Show c.977A>G	p.Lys others(6): Show p.Lys326Arg	AGFG1	ENSG00000173744.18	transcript	ENST00000310078.13	protein_coding	7/13	1243/8677	977/1689	326/562	chr2	TogoVar
AGFG1_chr2_227467156_227566217	227533738	A A	G G	missense_variant missense_variant	MODERATE	HG03041.hp1 NA18940.hp1 HG03041.hp1 NA18940.hp1	a0002 a0002	a0002c0006 a0002c0007 a0002c0006 a0002c0007	a0002c0006t0002 a0002c0007t0012 a0002c0006t0002 a0002c0007t0012	a0002c0006t0002g0252 a0002c0007t0012g0190 a0002c0006t0002g0252 a0002c0007t0012g0190	2	326	0.0061	c.100 others(4): Show c.1004A>G	p.Asn others(6): Show p.Asn335Ser	AGFG1	ENSG00000173744.18	transcript	ENST00000310078.13	protein_coding	7/13	1270/8677	1004/1689	335/562	chr2	TogoVar
AGFG2_chr7_100534203_100573220	100539462	G G	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG02040.hp2 HG02698.hp1 others(8): Show HG00140.hp1 HG02040.hp2 HG02698.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18948.hp1 NA18950.hp2 NA18978.hp1 NA18999.hp1 NA19074.hp2	a0004 a0007 a0004 a0007	a0004c0004 a0007c0006 a0004c0004 a0007c0006	a0004c0004t0002 a0004c0004t0011 a0007c0006t0002 a0004c0004t0002 a0004c0004t0011 a0007c0006t0002	a0004c0004t0002g0012 a0004c0004t0002g0023 a0004c0004t0002g0024 others(7): Show a0004c0004t0002g0012 a0004c0004t0002g0023 a0004c0004t0002g0024 a0004c0004t0002g0068 a0004c0004t0002g0069 a0004c0004t0002g0070 a0004c0004t0002g0071 a0004c0004t0002g0072 a0004c0004t0011g0066 a0007c0006t0002g0067	11	244	0.0451	c.116 others(3): Show c.116G>C	p.Cys others(5): Show p.Cys39Ser	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	1/12	260/4819	116/1446	39/481	chr7	TogoVar
AGFG2_chr7_100534203_100573220	100539498	C C	T T	missense_variant missense_variant	MODERATE	NA18975.hp2 NA18975.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0200 a0009c0015t0001g0200	1	244	0.0041	c.152 others(3): Show c.152C>T	p.Ala others(5): Show p.Ala51Val	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	1/12	296/4819	152/1446	51/481	chr7	TogoVar
AGFG2_chr7_100534203_100573220	100548833	A A	G G	missense_variant missense_variant	MODERATE	HG03834.hp1 HG03834.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0063 a0008c0014t0001g0063	1	244	0.0041	c.233 others(3): Show c.233A>G	p.Asn others(5): Show p.Asn78Ser	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	2/12	377/4819	233/1446	78/481	chr7	TogoVar
AGFG2_chr7_100534203_100573220	100554096	G G	A A	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02451.hp2 HG02615.hp2 others(11): Show HG02257.hp2 HG02451.hp2 HG02615.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0007 a0003c0003 a0003c0007	a0003c0003t0004 a0003c0003t0007 a0003c0003t0008 others(3): Show a0003c0003t0004 a0003c0003t0007 a0003c0003t0008 a0003c0003t0018 a0003c0003t0019 a0003c0007t0004	a0003c0003t0004g0037 a0003c0003t0004g0104 a0003c0003t0004g0168 others(11): Show a0003c0003t0004g0037 a0003c0003t0004g0104 a0003c0003t0004g0168 a0003c0003t0004g0196 a0003c0003t0007g0033 a0003c0003t0007g0034 a0003c0003t0007g0035 a0003c0003t0007g0057 a0003c0003t0008g0042 a0003c0003t0008g0046 a0003c0003t0008g0047 a0003c0003t0018g0108 a0003c0003t0019g0038 a0003c0007t0004g0036	14	244	0.0574	c.589 others(3): Show c.589G>A	p.Val others(6): Show p.Val197Ile	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	5/12	733/4819	589/1446	197/481	chr7	TogoVar
AGFG2_chr7_100534203_100573220	100562274	C C	T T	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02698.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0002 a0007c0006t0002	a0007c0006t0002g0067 a0007c0006t0002g0067	1	244	0.0041	c.893 others(3): Show c.893C>T	p.Thr others(6): Show p.Thr298Ile	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	7/12	1037/4819	893/1446	298/481	chr7	TogoVar
AGFG2_chr7_100534203_100573220	100562303	G G	A A	missense_variant missense_variant	MODERATE	HG01258.hp1 HG01258.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0152 a0005c0008t0001g0152	1	244	0.0041	c.922 others(3): Show c.922G>A	p.Ala others(6): Show p.Ala308Thr	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	7/12	1066/4819	922/1446	308/481	chr7	TogoVar
AGFG2_chr7_100534203_100573220	100562363	G G	C C	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0058 a0010c0009t0001g0058	1	244	0.0041	c.982 others(3): Show c.982G>C	p.Ala others(6): Show p.Ala328Pro	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	7/12	1126/4819	982/1446	328/481	chr7	TogoVar
AGFG2_chr7_100534203_100573220	100562641	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00733.hp1 HG00735.hp1 others(50): Show HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01517.hp1 HG02055.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG06807.hp2 NA18906.hp1 NA18979.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0002 a0003 a0010 a0002 a0003 a0010	a0002c0002 a0003c0003 a0003c0007 others(1): Show a0002c0002 a0003c0003 a0003c0007 a0010c0009	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(11): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0012 a0002c0002t0015 a0002c0002t0020 a0003c0003t0004 a0003c0003t0007 a0003c0003t0008 a0003c0003t0018 a0003c0003t0019 a0003c0007t0004 a0010c0009t0001	a0002c0002t0001g0008 a0002c0002t0001g0022 a0002c0002t0001g0177 others(48): Show a0002c0002t0001g0008 a0002c0002t0001g0022 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0041 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0100 a0002c0002t0003g0102 a0002c0002t0003g0107 a0002c0002t0003g0157 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0004g0064 a0002c0002t0004g0101 a0002c0002t0004g0103 a0002c0002t0004g0105 a0002c0002t0004g0106 a0002c0002t0006g0179 a0002c0002t0006g0180 a0002c0002t0012g0021 a0002c0002t0015g0174 a0002c0002t0020g0099 a0003c0003t0004g0037 a0003c0003t0004g0104 a0003c0003t0004g0168 a0003c0003t0004g0196 a0003c0003t0007g0033 a0003c0003t0007g0034 a0003c0003t0007g0035 a0003c0003t0007g0057 a0003c0003t0008g0042 a0003c0003t0008g0046 a0003c0003t0008g0047 a0003c0003t0018g0108 a0003c0003t0019g0038 a0003c0007t0004g0036 a0010c0009t0001g0058	53	244	0.2172	c.104 others(4): Show c.1046T>C	p.Met others(6): Show p.Met349Thr	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	8/12	1190/4819	1046/1446	349/481	chr7	TogoVar
AGFG2_chr7_100534203_100573220	100562655	G G	A A	missense_variant missense_variant	MODERATE	HG02071.hp2 HG02071.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0009 a0006c0010t0009	a0006c0010t0009g0198 a0006c0010t0009g0198	1	244	0.0041	c.106 others(4): Show c.1060G>A	p.Gly others(6): Show p.Gly354Ser	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	8/12	1204/4819	1060/1446	354/481	chr7	TogoVar
AGGF1_chr5_77025404_77070234	77035594	G G	A A	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0218 a0006c0009t0001g0218	1	436	0.0023	c.367 others(3): Show c.367G>A	p.Glu others(6): Show p.Glu123Lys	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	3/14	730/4490	367/2145	123/714	chr5	TogoVar
AGGF1_chr5_77025404_77070234	77035624	G G	A A	missense_variant missense_variant	MODERATE	HG02074.hp2 HG02074.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0245 a0004c0010t0001g0245	1	436	0.0023	c.397 others(3): Show c.397G>A	p.Glu others(6): Show p.Glu133Lys	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	3/14	760/4490	397/2145	133/714	chr5	TogoVar
AGGF1_chr5_77025404_77070234	77063199	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(93): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00558.hp2 HG00639.hp1 HG00733.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02273.hp2 HG02615.hp2 HG02630.hp1 HG02735.hp1 HG02976.hp2 HG03540.hp1 HG03669.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp2 NA18946.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0008 a0002c0003 a0002c0008	a0002c0003t0002 a0002c0003t0014 a0002c0003t0015 others(4): Show a0002c0003t0002 a0002c0003t0014 a0002c0003t0015 a0002c0003t0016 a0002c0003t0019 a0002c0003t0025 a0002c0008t0002	a0002c0003t0002g0001 a0002c0003t0002g0002 a0002c0003t0002g0006 others(62): Show a0002c0003t0002g0001 a0002c0003t0002g0002 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0017 a0002c0003t0002g0018 a0002c0003t0002g0019 a0002c0003t0002g0020 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0081 a0002c0003t0002g0082 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0085 a0002c0003t0002g0086 a0002c0003t0002g0087 a0002c0003t0002g0089 a0002c0003t0002g0304 a0002c0003t0002g0306 a0002c0003t0002g0307 a0002c0003t0002g0308 a0002c0003t0014g0006 a0002c0003t0014g0046 a0002c0003t0015g0007 a0002c0003t0015g0072 a0002c0003t0016g0002 a0002c0003t0016g0062 a0002c0003t0019g0008 a0002c0003t0025g0073 a0002c0008t0002g0305	96	436	0.2202	c.209 others(4): Show c.2092C>A	p.Pro others(6): Show p.Pro698Thr	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	14/14	2455/4490	2092/2145	698/714	chr5	TogoVar
AGGF1_chr5_77025404_77070234	77063223	A A	T T	missense_variant missense_variant	MODERATE	HG01167.hp1 HG02280.hp2 NA19030.hp2 others(1): Show HG01167.hp1 HG02280.hp2 NA19030.hp2 NA20129.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0011	a0003c0005t0011g0132 a0003c0005t0011g0180 a0003c0005t0011g0181 others(1): Show a0003c0005t0011g0132 a0003c0005t0011g0180 a0003c0005t0011g0181 a0003c0005t0011g0183	4	436	0.0092	c.211 others(4): Show c.2116A>T	p.Met others(6): Show p.Met706Leu	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	14/14	2479/4490	2116/2145	706/714	chr5	TogoVar
AGK_chr7_141546410_141660244	141555483	A A	G G	missense_variant missense_variant	MODERATE	HG01261.hp1 HG02896.hp1 HG03225.hp2 HG01261.hp1 HG02896.hp1 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0008 a0002c0002t0003g0266 a0002c0002t0003g0008 a0002c0002t0003g0266	3	272	0.0110	c.17A others(2): Show c.17A>G	p.Lys others(4): Show p.Lys6Arg	AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	2/16	56/3628	17/1269	6/422	chr7	TogoVar
AGK_chr7_141546410_141660244	141596602	A A	G G	missense_variant missense_variant	MODERATE	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0025 a0003c0005t0001g0025	1	272	0.0037	c.182 others(3): Show c.182A>G	p.Lys others(5): Show p.Lys61Arg	AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	4/16	221/3628	182/1269	61/422	chr7	TogoVar
AGK_chr7_141546410_141660244	141611252	A A	G G	missense_variant missense_variant	MODERATE	NA19078.hp1 NA19078.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0241 a0005c0004t0002g0241	1	272	0.0037	c.355 others(3): Show c.355A>G	p.Ile others(6): Show p.Ile119Val	AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	6/16	394/3628	355/1269	119/422	chr7	TogoVar
AGK_chr7_141546410_141660244	141614171	C C	G G	missense_variant missense_variant	MODERATE	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0010 a0004c0003t0010	a0004c0003t0010g0227 a0004c0003t0010g0227	1	272	0.0037	c.416 others(3): Show c.416C>G	p.Thr others(6): Show p.Thr139Arg	AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	7/16	455/3628	416/1269	139/422	chr7	TogoVar
AGL_chr1_99845361_99929020	99861532	A A	G G	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02886.hp2 NA18522.hp1 HG02717.hp1 HG02886.hp2 NA18522.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0010 a0009c0010t0010	a0009c0010t0010g0205 a0009c0010t0010g0206 a0009c0010t0010g0207 a0009c0010t0010g0205 a0009c0010t0010g0206 a0009c0010t0010g0207	3	316	0.0095	c.112 others(3): Show c.112A>G	p.Thr others(5): Show p.Thr38Ala	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	3/34	235/7091	112/4599	38/1532	chr1	TogoVar
AGL_chr1_99845361_99929020	99862406	G G	A A	missense_variant missense_variant	MODERATE	NA20905.hp2 NA20905.hp2	a0025 a0025	a0025c0017 a0025c0017	a0025c0017t0001 a0025c0017t0001	a0025c0017t0001g0059 a0025c0017t0001g0059	1	316	0.0032	c.443 others(3): Show c.443G>A	p.Arg others(6): Show p.Arg148Lys	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	4/34	566/7091	443/4599	148/1532	chr1	TogoVar
AGL_chr1_99845361_99929020	99870421	A A	G G	missense_variant missense_variant	MODERATE	HG00642.hp2 HG00673.hp1 HG01928.hp2 others(22): Show HG00642.hp2 HG00673.hp1 HG01928.hp2 HG01934.hp1 HG01981.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02809.hp2 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG04184.hp2 NA18948.hp2 NA18962.hp2 NA18970.hp1 NA19068.hp2	a0003 a0020 a0021 a0003 a0020 a0021	a0003c0006 a0003c0015 a0020c0034 others(1): Show a0003c0006 a0003c0015 a0020c0034 a0021c0035	a0003c0006t0001 a0003c0006t0006 a0003c0006t0008 others(4): Show a0003c0006t0001 a0003c0006t0006 a0003c0006t0008 a0003c0006t0019 a0003c0015t0012 a0020c0034t0005 a0021c0035t0001	a0003c0006t0001g0175 a0003c0006t0001g0176 a0003c0006t0001g0177 others(22): Show a0003c0006t0001g0175 a0003c0006t0001g0176 a0003c0006t0001g0177 a0003c0006t0001g0178 a0003c0006t0001g0179 a0003c0006t0001g0180 a0003c0006t0001g0181 a0003c0006t0001g0182 a0003c0006t0001g0183 a0003c0006t0001g0184 a0003c0006t0001g0187 a0003c0006t0001g0189 a0003c0006t0001g0190 a0003c0006t0001g0193 a0003c0006t0001g0194 a0003c0006t0001g0198 a0003c0006t0001g0199 a0003c0006t0006g0191 a0003c0006t0006g0192 a0003c0006t0008g0188 a0003c0006t0019g0186 a0003c0015t0012g0195 a0003c0015t0012g0197 a0020c0034t0005g0196 a0021c0035t0001g0185	25	316	0.0791	c.686 others(3): Show c.686A>G	p.Gln others(6): Show p.Gln229Arg	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	6/34	809/7091	686/4599	229/1532	chr1	TogoVar
AGL_chr1_99845361_99929020	99875190	G G	T T	missense_variant missense_variant	MODERATE	HG01361.hp2 HG01361.hp2	a0012 a0012	a0012c0033 a0012c0033	a0012c0033t0004 a0012c0033t0004	a0012c0033t0004g0016 a0012c0033t0004g0016	1	316	0.0032	c.111 others(4): Show c.1119G>T	p.Trp others(6): Show p.Trp373Cys	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	9/34	1242/7091	1119/4599	373/1532	chr1	TogoVar
AGL_chr1_99845361_99929020	99875226	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03927.hp2 NA20752.hp1 HG01167.hp2 HG03927.hp2 NA20752.hp1	a0010 a0024 a0010 a0024	a0010c0011 a0024c0016 a0010c0011 a0024c0016	a0010c0011t0014 a0024c0016t0023 a0010c0011t0014 a0024c0016t0023	a0010c0011t0014g0202 a0010c0011t0014g0245 a0024c0016t0023g0203 a0010c0011t0014g0202 a0010c0011t0014g0245 a0024c0016t0023g0203	3	316	0.0095	c.115 others(4): Show c.1155G>T	p.Lys others(6): Show p.Lys385Asn	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	9/34	1278/7091	1155/4599	385/1532	chr1	TogoVar
AGL_chr1_99845361_99929020	99875231	G G	A A	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00733.hp1 HG01993.hp1 others(20): Show HG00423.hp1 HG00733.hp1 HG01993.hp1 HG02155.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02738.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18948.hp1 NA18952.hp1 NA18963.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18983.hp2 NA18989.hp2 NA18994.hp1 NA19007.hp2 NA19064.hp1	a0005 a0020 a0005 a0020	a0005c0005 a0005c0018 a0020c0034 a0005c0005 a0005c0018 a0020c0034	a0005c0005t0002 a0005c0005t0003 a0005c0018t0005 others(1): Show a0005c0005t0002 a0005c0005t0003 a0005c0018t0005 a0020c0034t0005	a0005c0005t0002g0109 a0005c0005t0002g0110 a0005c0005t0002g0112 others(20): Show a0005c0005t0002g0109 a0005c0005t0002g0110 a0005c0005t0002g0112 a0005c0005t0002g0115 a0005c0005t0002g0116 a0005c0005t0002g0121 a0005c0005t0002g0122 a0005c0005t0002g0123 a0005c0005t0002g0124 a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0127 a0005c0005t0002g0131 a0005c0005t0002g0149 a0005c0005t0002g0162 a0005c0005t0002g0166 a0005c0005t0002g0169 a0005c0005t0002g0171 a0005c0005t0003g0118 a0005c0005t0003g0128 a0005c0005t0003g0130 a0005c0018t0005g0049 a0020c0034t0005g0196	23	316	0.0728	c.116 others(4): Show c.1160G>A	p.Arg others(6): Show p.Arg387Gln	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	9/34	1283/7091	1160/4599	387/1532	chr1	TogoVar
AGL_chr1_99845361_99929020	99876493	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02647.hp1 HG06807.hp2 HG02630.hp2 HG02647.hp1 HG06807.hp2	a0008 a0008	a0008c0013 a0008c0032 a0008c0013 a0008c0032	a0008c0013t0004 a0008c0032t0004 a0008c0013t0004 a0008c0032t0004	a0008c0013t0004g0019 a0008c0013t0004g0063 a0008c0032t0004g0214 a0008c0013t0004g0019 a0008c0013t0004g0063 a0008c0032t0004g0214	3	316	0.0095	c.131 others(4): Show c.1319C>T	p.Ser others(6): Show p.Ser440Phe	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	11/34	1442/7091	1319/4599	440/1532	chr1	TogoVar
AGL_chr1_99845361_99929020	99880005	A A	G G	missense_variant missense_variant	MODERATE	HG01361.hp2 HG01361.hp2	a0012 a0012	a0012c0033 a0012c0033	a0012c0033t0004 a0012c0033t0004	a0012c0033t0004g0016 a0012c0033t0004g0016	1	316	0.0032	c.169 others(4): Show c.1694A>G	p.Asn others(6): Show p.Asn565Ser	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	13/34	1817/7091	1694/4599	565/1532	chr1	TogoVar
AGL_chr1_99845361_99929020	99880706	T T	G G	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0022 a0022	a0022c0023 a0022c0023	a0022c0023t0004 a0022c0023t0004	a0022c0023t0004g0017 a0022c0023t0004g0017	1	316	0.0032	c.181 others(4): Show c.1810T>G	p.Phe others(6): Show p.Phe604Val	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	14/34	1933/7091	1810/4599	604/1532	chr1	TogoVar
AGL_chr1_99845361_99929020	99881391	G G	T T	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18994.hp2 NA18967.hp2 NA18994.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0006 a0011c0012t0006	a0011c0012t0006g0007 a0011c0012t0006g0007	2	316	0.0063	c.210 others(4): Show c.2101G>T	p.Ala others(6): Show p.Ala701Ser	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	16/34	2224/7091	2101/4599	701/1532	chr1	TogoVar

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