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
A2M_chr12_9062708_9120919	9101557	C C	T T	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0002 a0014c0013t0002	a0014c0013t0002g0049 a0014c0013t0002g0049	1	330	0.0030	c.138 others(4): Show c.1384G>A	p.Glu others(6): Show p.Glu462Lys	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	12/36	1454/4610	1384/4425	462/1474	chr12	TogoVar
A2M_chr12_9062708_9120919	9101602	T T	C C	missense_variant missense_variant	MODERATE	NA18981.hp1 NA18981.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0277 a0012c0027t0001g0277	1	330	0.0030	c.133 others(4): Show c.1339A>G	p.Thr others(6): Show p.Thr447Ala	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	12/36	1409/4610	1339/4425	447/1474	chr12	TogoVar
A2M_chr12_9062708_9120919	9106261	C C	T T	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01109.hp2 HG01257.hp1 others(5): Show HG01106.hp2 HG01109.hp2 HG01257.hp1 HG01358.hp2 HG01433.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0163 a0003c0004t0001g0001 a0003c0004t0001g0163	8	330	0.0242	c.107 others(4): Show c.1079G>A	p.Arg others(6): Show p.Arg360Gln	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	10/36	1149/4610	1079/4425	360/1474	chr12	TogoVar
A2M_chr12_9062708_9120919	9107621	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG02273.hp1 HG00741.hp2 HG02273.hp1	a0007 a0008 a0007 a0008	a0007c0023 a0008c0024 a0007c0023 a0008c0024	a0007c0023t0001 a0008c0024t0001 a0007c0023t0001 a0008c0024t0001	a0007c0023t0001g0213 a0008c0024t0001g0214 a0007c0023t0001g0213 a0008c0024t0001g0214	2	330	0.0061	c.782 others(3): Show c.782C>T	p.Pro others(6): Show p.Pro261Leu	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	8/36	852/4610	782/4425	261/1474	chr12	TogoVar
A2M_chr12_9062708_9120919	9112202	C C	T T	missense_variant missense_variant	MODERATE	HG03209.hp2 HG03209.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0002 a0011c0012t0002	a0011c0012t0002g0094 a0011c0012t0002g0094	1	330	0.0030	c.440 others(3): Show c.440G>A	p.Arg others(6): Show p.Arg147His	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	4/36	510/4610	440/4425	147/1474	chr12	TogoVar
A2M_chr12_9062708_9120919	9112203	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0001 a0009c0025t0001	a0009c0025t0001g0276 a0009c0025t0001g0276	1	330	0.0030	c.439 others(3): Show c.439C>T	p.Arg others(6): Show p.Arg147Cys	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	4/36	509/4610	439/4425	147/1474	chr12	TogoVar
A2M_chr12_9062708_9120919	9113460	G G	A A	missense_variant missense_variant	MODERATE	NA18981.hp1 NA18981.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0277 a0012c0027t0001g0277	1	330	0.0030	c.170 others(3): Show c.170C>T	p.Thr others(5): Show p.Thr57Ile	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	2/36	240/4610	170/4425	57/1474	chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33307196	A A	G G	missense_variant missense_variant	MODERATE	NA20752.hp1 NA20752.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0114 a0012c0012t0001g0114	1	416	0.0024	c.593 others(3): Show c.593T>C	p.Met others(6): Show p.Met198Thr	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	5/5	593/1023	593/1023	198/340	chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33307206	T T	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0034 a0006c0005t0001g0034	2	416	0.0048	c.583 others(3): Show c.583A>G	p.Met others(6): Show p.Met195Val	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	5/5	583/1023	583/1023	195/340	chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33307211	T T	C C	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0169 a0009c0011t0001g0169	1	416	0.0024	c.578 others(3): Show c.578A>G	p.His others(6): Show p.His193Arg	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	5/5	578/1023	578/1023	193/340	chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33307232	C C	T T	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0169 a0009c0011t0001g0169	1	416	0.0024	c.557 others(3): Show c.557G>A	p.Gly others(6): Show p.Gly186Glu	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	5/5	557/1023	557/1023	186/340	chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33307415	G G	A A	missense_variant missense_variant	MODERATE	HG06807.hp1 HG06807.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0125 a0010c0010t0001g0125	1	416	0.0024	c.374 others(3): Show c.374C>T	p.Ala others(6): Show p.Ala125Val	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	5/5	374/1023	374/1023	125/340	chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33312125	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG03209.hp2 HG06807.hp1 HG01884.hp1 HG03209.hp2 HG06807.hp1	a0005 a0010 a0005 a0010	a0005c0004 a0010c0010 a0005c0004 a0010c0010	a0005c0004t0001 a0010c0010t0001 a0005c0004t0001 a0010c0010t0001	a0005c0004t0001g0111 a0005c0004t0001g0118 a0010c0010t0001g0125 a0005c0004t0001g0111 a0005c0004t0001g0118 a0010c0010t0001g0125	3	416	0.0072	c.262 others(3): Show c.262G>A	p.Asp others(5): Show p.Asp88Asn	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/5	262/1023	262/1023	88/340	chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33312184	C C	G G	missense_variant missense_variant	MODERATE	NA18972.hp2 NA18972.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0132 a0011c0013t0001g0132	1	416	0.0024	c.203 others(3): Show c.203G>C	p.Arg others(5): Show p.Arg68Pro	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/5	203/1023	203/1023	68/340	chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33312185	G G	C C	missense_variant missense_variant	MODERATE	NA18972.hp2 NA18972.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0132 a0011c0013t0001g0132	1	416	0.0024	c.202 others(3): Show c.202C>G	p.Arg others(5): Show p.Arg68Gly	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/5	202/1023	202/1023	68/340	chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33312552	G G	A A	missense_variant missense_variant	MODERATE	HG03098.hp2 NA19240.hp2 HG03098.hp2 NA19240.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0036 a0007c0007t0001g0036	2	416	0.0048	c.146 others(3): Show c.146C>T	p.Ser others(5): Show p.Ser49Leu	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	3/5	146/1023	146/1023	49/340	chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33312562	C C	T T	missense_variant missense_variant	MODERATE	HG02523.hp2 HG02523.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0160 a0008c0009t0001g0160	1	416	0.0024	c.136 others(3): Show c.136G>A	p.Val others(5): Show p.Val46Ile	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	3/5	136/1023	136/1023	46/340	chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33312577	G G	A A	missense_variant missense_variant	MODERATE	HG01255.hp1 HG02145.hp2 HG03225.hp1 HG01255.hp1 HG02145.hp2 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0033 a0003c0003t0001g0091 a0003c0003t0001g0033 a0003c0003t0001g0091	3	416	0.0072	c.121 others(3): Show c.121C>T	p.Leu others(5): Show p.Leu41Phe	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	3/5	121/1023	121/1023	41/340	chr1	TogoVar
A4GALT_chr22_42687121_42725870	42693464	T T	C C	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02615.hp1 HG02818.hp1 others(3): Show HG01891.hp2 HG02615.hp1 HG02818.hp1 HG03195.hp2 HG03540.hp2 NA18906.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0089 a0004c0005t0010g0271 a0004c0005t0010g0272 others(3): Show a0004c0005t0010g0089 a0004c0005t0010g0271 a0004c0005t0010g0272 a0004c0005t0010g0273 a0004c0005t0010g0274 a0004c0005t0010g0280	6	404	0.0149	c.488 others(3): Show c.488A>G	p.Gln others(6): Show p.Gln163Arg	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	3/3	749/2092	488/1062	163/353	chr22	TogoVar
A4GALT_chr22_42687121_42725870	42693576	G G	C C	missense_variant missense_variant	MODERATE	HG03834.hp1 HG03834.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0008 a0006c0013t0008	a0006c0013t0008g0053 a0006c0013t0008g0053	1	404	0.0025	c.376 others(3): Show c.376C>G	p.Arg others(6): Show p.Arg126Gly	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	3/3	637/2092	376/1062	126/353	chr22	TogoVar
A4GALT_chr22_42687121_42725870	42693585	A A	G G	missense_variant missense_variant	MODERATE	HG00639.hp1 HG02622.hp1 HG02647.hp1 others(2): Show HG00639.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp2 NA20129.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0007 a0005c0006t0001g0260 a0005c0006t0001g0261 others(1): Show a0005c0006t0001g0007 a0005c0006t0001g0260 a0005c0006t0001g0261 a0005c0006t0001g0394	5	404	0.0124	c.367 others(3): Show c.367T>C	p.Ser others(6): Show p.Ser123Pro	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	3/3	628/2092	367/1062	123/353	chr22	TogoVar
A4GALT_chr22_42687121_42725870	42693843	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(116): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18943.hp1 NA18950.hp2 NA18952.hp1 NA18956.hp1 NA18961.hp1 NA18963.hp1 NA18966.hp1 NA18970.hp1 NA18986.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0003 a0002c0008 a0005c0006 others(1): Show a0002c0003 a0002c0008 a0005c0006 a0006c0013	a0002c0003t0001 a0002c0003t0004 a0002c0003t0008 others(4): Show a0002c0003t0001 a0002c0003t0004 a0002c0003t0008 a0002c0003t0017 a0002c0008t0001 a0005c0006t0001 a0006c0013t0008	a0002c0003t0001g0005 a0002c0003t0001g0010 a0002c0003t0001g0011 others(111): Show a0002c0003t0001g0005 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0088 a0002c0003t0001g0123 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0142 a0002c0003t0001g0146 a0002c0003t0001g0160 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0185 a0002c0003t0001g0200 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0236 a0002c0003t0001g0238 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0256 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0268 a0002c0003t0001g0275 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0305 a0002c0003t0001g0307 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0312 a0002c0003t0001g0313 a0002c0003t0001g0315 a0002c0003t0001g0316 a0002c0003t0001g0317 a0002c0003t0001g0320 a0002c0003t0001g0324 a0002c0003t0001g0327 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0001g0330 a0002c0003t0001g0331 a0002c0003t0001g0332 a0002c0003t0001g0333 a0002c0003t0001g0334 a0002c0003t0001g0335 a0002c0003t0001g0337 a0002c0003t0001g0340 a0002c0003t0001g0344 a0002c0003t0001g0345 a0002c0003t0001g0346 a0002c0003t0001g0347 a0002c0003t0001g0348 a0002c0003t0001g0349 a0002c0003t0001g0351 a0002c0003t0001g0352 a0002c0003t0001g0353 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0001g0357 a0002c0003t0001g0358 a0002c0003t0001g0359 a0002c0003t0001g0360 a0002c0003t0001g0361 a0002c0003t0001g0363 a0002c0003t0001g0365 a0002c0003t0001g0366 a0002c0003t0001g0368 a0002c0003t0001g0369 a0002c0003t0001g0370 a0002c0003t0001g0371 a0002c0003t0001g0372 a0002c0003t0001g0373 a0002c0003t0001g0374 a0002c0003t0001g0375 a0002c0003t0001g0376 a0002c0003t0001g0378 a0002c0003t0001g0379 a0002c0003t0001g0384 a0002c0003t0001g0385 a0002c0003t0001g0386 a0002c0003t0001g0387 a0002c0003t0001g0388 a0002c0003t0001g0390 a0002c0003t0004g0140 a0002c0003t0004g0326 a0002c0003t0004g0343 a0002c0003t0004g0364 a0002c0003t0008g0013 a0002c0003t0008g0044 a0002c0003t0008g0045 a0002c0003t0008g0055 a0002c0003t0008g0080 a0002c0003t0017g0262 a0002c0003t0017g0265 a0002c0008t0001g0112 a0002c0008t0001g0270 a0002c0008t0001g0339 a0002c0008t0001g0381 a0005c0006t0001g0007 a0005c0006t0001g0260 a0005c0006t0001g0261 a0005c0006t0001g0394 a0006c0013t0008g0053	119	404	0.2946	c.109 others(3): Show c.109A>G	p.Met others(5): Show p.Met37Val	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	3/3	370/2092	109/1062	37/353	chr22	TogoVar
A4GALT_chr22_42687121_42725870	42693852	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp1 NA18945.hp1 NA18955.hp1 others(3): Show HG00558.hp1 NA18945.hp1 NA18955.hp1 NA18966.hp2 NA19080.hp1 NA19091.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0221 a0003c0004t0006g0222 a0003c0004t0006g0223 others(3): Show a0003c0004t0006g0221 a0003c0004t0006g0222 a0003c0004t0006g0223 a0003c0004t0006g0224 a0003c0004t0006g0225 a0003c0004t0006g0226	6	404	0.0149	c.100 others(3): Show c.100G>A	p.Val others(5): Show p.Val34Ile	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	3/3	361/2092	100/1062	34/353	chr22	TogoVar
A4GNT_chr3_138118713_138137390	138124404	G G	T T	missense_variant missense_variant	MODERATE	HG02559.hp1 HG03486.hp1 HG02559.hp1 HG03486.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0029 a0005c0008t0004g0029	2	396	0.0051	c.883 others(3): Show c.883C>A	p.Gln others(6): Show p.Gln295Lys	A4GNT	ENSG00000118017.4	transcript	ENST00000236709.4	protein_coding	3/3	1088/1779	883/1023	295/340	chr3	TogoVar
A4GNT_chr3_138118713_138137390	138124634	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(240): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18991.hp1 NA18994.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0009 others(4): Show a0001c0001 a0001c0003 a0001c0009 a0001c0012 a0004c0007 a0005c0008 a0007c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0003t0011 a0001c0003t0012 a0001c0009t0001 a0001c0012t0006 a0004c0007t0001 a0005c0008t0004 a0007c0011t0003	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(158): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0037 a0001c0001t0004g0116 a0001c0001t0004g0119 a0001c0001t0004g0132 a0001c0001t0004g0144 a0001c0001t0009g0087 a0001c0001t0009g0088 a0001c0001t0009g0089 a0001c0001t0009g0186 a0001c0001t0014g0145 a0001c0003t0001g0195 a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0014 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0048 a0001c0003t0003g0051 a0001c0003t0003g0053 a0001c0003t0003g0056 a0001c0003t0003g0059 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0064 a0001c0003t0003g0066 a0001c0003t0006g0016 a0001c0003t0006g0024 a0001c0003t0006g0058 a0001c0003t0011g0067 a0001c0003t0012g0055 a0001c0009t0001g0194 a0001c0012t0006g0057 a0004c0007t0001g0073 a0004c0007t0001g0074 a0005c0008t0004g0029 a0007c0011t0003g0043	243	396	0.6136	c.653 others(3): Show c.653C>A	p.Ala others(6): Show p.Ala218Asp	A4GNT	ENSG00000118017.4	transcript	ENST00000236709.4	protein_coding	3/3	858/1779	653/1023	218/340	chr3	TogoVar
A4GNT_chr3_138118713_138137390	138130917	C C	G G	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0003 a0007c0011t0003	a0007c0011t0003g0043 a0007c0011t0003g0043	1	396	0.0025	c.340 others(3): Show c.340G>C	p.Val others(6): Show p.Val114Leu	A4GNT	ENSG00000118017.4	transcript	ENST00000236709.4	protein_coding	2/3	545/1779	340/1023	114/340	chr3	TogoVar
A4GNT_chr3_138118713_138137390	138131046	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp2 HG01069.hp2 HG02040.hp2 HG00323.hp2 HG01069.hp2 HG02040.hp2	a0004 a0006 a0004 a0006	a0004c0007 a0006c0010 a0004c0007 a0006c0010	a0004c0007t0001 a0006c0010t0002 a0004c0007t0001 a0006c0010t0002	a0004c0007t0001g0073 a0004c0007t0001g0074 a0006c0010t0002g0042 a0004c0007t0001g0073 a0004c0007t0001g0074 a0006c0010t0002g0042	3	396	0.0076	c.211 others(3): Show c.211G>A	p.Val others(5): Show p.Val71Ile	A4GNT	ENSG00000118017.4	transcript	ENST00000236709.4	protein_coding	2/3	416/1779	211/1023	71/340	chr3	TogoVar
A4GNT_chr3_138118713_138137390	138131177	G G	C C	missense_variant missense_variant	MODERATE	HG01358.hp1 HG02622.hp1 HG02809.hp1 HG01358.hp1 HG02622.hp1 HG02809.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0008	a0003c0006t0008g0028 a0003c0006t0008g0072 a0003c0006t0008g0028 a0003c0006t0008g0072	3	396	0.0076	c.80C others(2): Show c.80C>G	p.Ser others(5): Show p.Ser27Cys	A4GNT	ENSG00000118017.4	transcript	ENST00000236709.4	protein_coding	2/3	285/1779	80/1023	27/340	chr3	TogoVar
AAAS_chr12_53302460_53326610	53307533	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp1 HG02723.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG02723.hp1 HG02723.hp2 HG03209.hp2 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0002 a0002c0004t0001 a0002c0004t0002	a0002c0004t0001g0047 a0002c0004t0001g0147 a0002c0004t0002g0023 others(1): Show a0002c0004t0001g0047 a0002c0004t0001g0147 a0002c0004t0002g0023 a0002c0004t0002g0052	6	328	0.0183	c.159 others(4): Show c.1597G>A	p.Gly others(6): Show p.Gly533Arg	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	16/16	1742/1815	1597/1641	533/546	chr12	TogoVar
AAAS_chr12_53302460_53326610	53321403	G G	C C	missense_variant missense_variant	MODERATE	HG02165.hp2 NA18992.hp2 HG02165.hp2 NA18992.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0178 a0003c0009t0001g0179 a0003c0009t0001g0178 a0003c0009t0001g0179	2	328	0.0061	c.63C others(2): Show c.63C>G	p.His others(5): Show p.His21Gln	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	1/16	208/1815	63/1641	21/546	chr12	TogoVar
AACS_chr12_125060435_125148316	125076605	A A	G G	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00642.hp2 HG00738.hp1 others(82): Show HG00621.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18993.hp2 NA19002.hp2 NA19004.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19066.hp2 NA19068.hp1 NA19078.hp1 NA19084.hp2 NA19090.hp2 NA20129.hp1 NA20905.hp1	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0008	a0002c0002 a0002c0005 a0002c0006 others(9): Show a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0002c0010 a0002c0011 a0002c0021 a0002c0025 a0002c0026 a0003c0022 a0007c0024 a0008c0023	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(13): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0002c0010t0001 a0002c0011t0001 a0002c0021t0001 a0002c0025t0001 a0002c0026t0001 a0003c0022t0001 a0007c0024t0001 a0008c0023t0003	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0008 others(79): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0036 a0002c0002t0001g0069 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0102 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0122 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0002g0126 a0002c0002t0002g0357 a0002c0002t0003g0121 a0002c0002t0005g0096 a0002c0002t0007g0112 a0002c0002t0007g0113 a0002c0002t0007g0146 a0002c0002t0007g0277 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0005t0001g0025 a0002c0006t0001g0123 a0002c0006t0001g0124 a0002c0006t0001g0142 a0002c0006t0001g0149 a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027 a0002c0010t0001g0020 a0002c0011t0001g0016 a0002c0021t0001g0026 a0002c0025t0001g0253 a0002c0026t0001g0141 a0003c0022t0001g0129 a0007c0024t0001g0261 a0008c0023t0003g0120	85	362	0.2348	c.352 others(3): Show c.352A>G	p.Ile others(6): Show p.Ile118Val	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	3/18	502/3256	352/2019	118/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125107252	T T	G G	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0001 a0003c0022t0001	a0003c0022t0001g0129 a0003c0022t0001g0129	1	362	0.0028	c.899 others(3): Show c.899T>G	p.Met others(6): Show p.Met300Arg	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/18	1049/3256	899/2019	300/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125114478	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18939.hp2 NA18939.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0003 a0008c0023t0003	a0008c0023t0003g0120 a0008c0023t0003g0120	1	362	0.0028	c.917 others(3): Show c.917G>A	p.Gly others(6): Show p.Gly306Asp	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	9/18	1067/3256	917/2019	306/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125124908	C C	T T	missense_variant missense_variant	MODERATE	HG04204.hp2 HG04204.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0001 a0006c0019t0001	a0006c0019t0001g0182 a0006c0019t0001g0182	1	362	0.0028	c.119 others(4): Show c.1193C>T	p.Thr others(6): Show p.Thr398Ile	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/18	1343/3256	1193/2019	398/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125124913	A A	T T	missense_variant missense_variant	MODERATE	NA18967.hp1 NA18967.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0003 a0009c0018t0003	a0009c0018t0003g0278 a0009c0018t0003g0278	1	362	0.0028	c.119 others(4): Show c.1198A>T	p.Ser others(6): Show p.Ser400Cys	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	12/18	1348/3256	1198/2019	400/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125128260	C C	T T	missense_variant missense_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0032 a0010c0016t0001g0032	1	362	0.0028	c.140 others(4): Show c.1409C>T	p.Ala others(6): Show p.Ala470Val	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	13/18	1559/3256	1409/2019	470/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125134805	T T	C C	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0348 a0005c0013t0001g0348	1	362	0.0028	c.163 others(4): Show c.1631T>C	p.Leu others(6): Show p.Leu544Pro	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	16/18	1781/3256	1631/2019	544/672	chr12	TogoVar
AACS_chr12_125060435_125148316	125136673	G G	C C	missense_variant missense_variant	MODERATE	HG01243.hp2 NA18906.hp1 HG01243.hp2 NA18906.hp1	a0004 a0007 a0004 a0007	a0004c0014 a0007c0024 a0004c0014 a0007c0024	a0004c0014t0001 a0007c0024t0001 a0004c0014t0001 a0007c0024t0001	a0004c0014t0001g0337 a0007c0024t0001g0261 a0004c0014t0001g0337 a0007c0024t0001g0261	2	362	0.0055	c.169 others(4): Show c.1690G>C	p.Glu others(6): Show p.Glu564Gln	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	17/18	1840/3256	1690/2019	564/672	chr12	TogoVar
AADACL2_chr3_151728927_151766339	151740668	G G	A A	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0007 a0007c0006t0007	a0007c0006t0007g0102 a0007c0006t0007g0102	1	426	0.0023	c.161 others(3): Show c.161G>A	p.Arg others(5): Show p.Arg54His	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	2/5	270/5060	161/1206	54/401	chr3	TogoVar
AADACL2_chr3_151728927_151766339	151740730	T T	C C	missense_variant missense_variant	MODERATE	NA18962.hp1 NA18972.hp1 NA19076.hp2 NA18962.hp1 NA18972.hp1 NA19076.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0024 a0003c0003t0002g0024	3	426	0.0070	c.223 others(3): Show c.223T>C	p.Ser others(5): Show p.Ser75Pro	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	2/5	332/5060	223/1206	75/401	chr3	TogoVar
AADACL2_chr3_151728927_151766339	151740821	G G	A A	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01106.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0006 a0005c0007t0004g0006	1	426	0.0023	c.314 others(3): Show c.314G>A	p.Arg others(6): Show p.Arg105Gln	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	2/5	423/5060	314/1206	105/401	chr3	TogoVar
AADACL2_chr3_151728927_151766339	151744137	C C	T T	missense_variant missense_variant	MODERATE	HG02523.hp2 HG02523.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0001 a0006c0009t0002g0001	1	426	0.0023	c.406 others(3): Show c.406C>T	p.Leu others(6): Show p.Leu136Phe	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	3/5	515/5060	406/1206	136/401	chr3	TogoVar
AADACL2_chr3_151728927_151766339	151745633	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(280): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19059.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0005 a0003c0003 others(4): Show a0001c0001 a0001c0005 a0003c0003 a0005c0007 a0006c0009 a0007c0006 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0005t0003 a0003c0003t0002 a0005c0007t0004 a0006c0009t0002 a0007c0006t0007 a0008c0008t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(123): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0044 a0001c0001t0002g0058 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0110 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0051 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0089 a0001c0001t0003g0116 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0142 a0001c0001t0003g0150 a0001c0001t0004g0006 a0001c0001t0004g0042 a0001c0001t0004g0048 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0079 a0001c0001t0004g0096 a0001c0001t0004g0105 a0001c0001t0004g0124 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0005g0016 a0001c0001t0005g0019 a0001c0001t0005g0049 a0001c0001t0005g0057 a0001c0001t0005g0066 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0005g0073 a0001c0001t0005g0075 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0098 a0001c0001t0005g0122 a0001c0001t0006g0002 a0001c0001t0006g0009 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0065 a0001c0001t0006g0069 a0001c0001t0007g0011 a0001c0001t0007g0072 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0007g0082 a0001c0001t0008g0033 a0001c0001t0008g0076 a0001c0001t0008g0104 a0001c0001t0008g0118 a0001c0001t0008g0141 a0001c0001t0009g0002 a0001c0001t0009g0056 a0001c0001t0009g0083 a0001c0001t0012g0001 a0001c0001t0012g0062 a0001c0001t0013g0032 a0001c0001t0013g0068 a0001c0001t0014g0125 a0001c0001t0016g0061 a0001c0001t0021g0074 a0001c0001t0022g0016 a0001c0001t0023g0147 a0001c0005t0003g0010 a0003c0003t0002g0024 a0005c0007t0004g0006 a0006c0009t0002g0001 a0007c0006t0007g0102 a0008c0008t0002g0001	283	426	0.6643	c.556 others(3): Show c.556G>T	p.Ala others(6): Show p.Ala186Ser	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	4/5	665/5060	556/1206	186/401	chr3	TogoVar
AADACL2_chr3_151728927_151766339	151757547	C C	A A	missense_variant missense_variant	MODERATE	NA18990.hp2 NA18990.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0001 a0008c0008t0002g0001	1	426	0.0023	c.115 others(4): Show c.1159C>A	p.Leu others(6): Show p.Leu387Ile	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5	1268/5060	1159/1206	387/401	chr3	TogoVar
AADACL2_chr3_151728927_151766339	151757548	T T	A A	missense_variant missense_variant	MODERATE	NA18994.hp2 NA19062.hp1 NA19063.hp1 NA18994.hp2 NA19062.hp1 NA19063.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0087 a0004c0004t0001g0005 a0004c0004t0001g0087	3	426	0.0070	c.116 others(4): Show c.1160T>A	p.Leu others(6): Show p.Leu387His	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5	1269/5060	1160/1206	387/401	chr3	TogoVar
AADACL3_chr1_12711110_12733760	12716184	A A	G G	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0018 a0018	a0018c0037 a0018c0037	a0018c0037t0001 a0018c0037t0001	a0018c0037t0001g0001 a0018c0037t0001g0001	1	430	0.0023	c.8A> others(1): Show c.8A>G	p.Asp others(4): Show p.Asp3Gly	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	1/4	75/4055	8/1224	3/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12716340	C C	T T	missense_variant missense_variant	MODERATE	NA18943.hp2 NA19001.hp2 NA19004.hp1 others(2): Show NA18943.hp2 NA19001.hp2 NA19004.hp1 NA19012.hp1 NA19065.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0010 a0009c0016t0022 a0009c0016t0001 a0009c0016t0010 a0009c0016t0022	a0009c0016t0001g0002 a0009c0016t0010g0016 a0009c0016t0022g0001 others(1): Show a0009c0016t0001g0002 a0009c0016t0010g0016 a0009c0016t0022g0001 a0009c0016t0022g0002	5	430	0.0116	c.164 others(3): Show c.164C>T	p.Thr others(5): Show p.Thr55Ile	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	1/4	231/4055	164/1224	55/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12719545	C C	T T	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0014 a0014	a0014c0030 a0014c0030	a0014c0030t0013 a0014c0030t0013	a0014c0030t0013g0013 a0014c0030t0013g0013	1	430	0.0023	c.239 others(3): Show c.239C>T	p.Pro others(5): Show p.Pro80Leu	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	2/4	306/4055	239/1224	80/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12719584	G G	A A	missense_variant missense_variant	MODERATE	HG02809.hp1 HG03017.hp2 HG03491.hp1 others(2): Show HG02809.hp1 HG03017.hp2 HG03491.hp1 HG03579.hp2 HG06807.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0011 a0008c0013t0001 a0008c0013t0011	a0008c0013t0001g0001 a0008c0013t0011g0002 a0008c0013t0001g0001 a0008c0013t0011g0002	5	430	0.0116	c.278 others(3): Show c.278G>A	p.Arg others(5): Show p.Arg93His	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	2/4	345/4055	278/1224	93/407	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12719616	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(67): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG01069.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02109.hp1 HG02135.hp1 HG02155.hp2 HG02523.hp1 HG02602.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03130.hp2 HG03453.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 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 NA19005.hp2 NA19006.hp2 NA19012.hp2 NA19056.hp1 NA19060.hp2 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19086.hp1	a0002 a0003 a0010 a0002 a0003 a0010	a0002c0003 a0002c0022 a0003c0005 others(2): Show a0002c0003 a0002c0022 a0003c0005 a0003c0009 a0010c0036	a0002c0003t0003 a0002c0003t0005 a0002c0003t0038 others(8): Show a0002c0003t0003 a0002c0003t0005 a0002c0003t0038 a0002c0022t0002 a0003c0005t0004 a0003c0005t0007 a0003c0005t0027 a0003c0009t0003 a0003c0009t0005 a0003c0009t0007 a0010c0036t0007	a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 others(20): Show a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 a0002c0003t0005g0005 a0002c0003t0005g0035 a0002c0003t0005g0071 a0002c0003t0005g0083 a0002c0003t0005g0085 a0002c0003t0005g0144 a0002c0003t0038g0005 a0002c0022t0002g0020 a0003c0005t0004g0003 a0003c0005t0004g0040 a0003c0005t0004g0092 a0003c0005t0004g0111 a0003c0005t0007g0003 a0003c0005t0007g0108 a0003c0005t0027g0129 a0003c0009t0003g0031 a0003c0009t0005g0139 a0003c0009t0007g0003 a0003c0009t0007g0005 a0010c0036t0007g0040	70	430	0.1628	c.310 others(3): Show c.310C>T	p.Pro others(6): Show p.Pro104Ser	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	2/4	377/4055	310/1224	104/407	chr1	TogoVar

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