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
ACSM4_chr12_7299072_7333719	7322534	C C	T T	missense_variant missense_variant	MODERATE	NA18939.hp2 NA18939.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0059 a0008c0016t0001g0059	1	428	0.0023	c.111 others(4): Show c.1118C>T	p.Thr others(6): Show p.Thr373Met	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	7/13	1378/2349	1118/1743	373/580	chr12	TogoVar
ACSM4_chr12_7299072_7333719	7323549	T T	G G	missense_variant missense_variant	MODERATE	NA18973.hp2 NA18973.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0072 a0010c0012t0001g0072	1	428	0.0023	c.129 others(4): Show c.1297T>G	p.Ser others(6): Show p.Ser433Ala	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	9/13	1557/2349	1297/1743	433/580	chr12	TogoVar
ACSM4_chr12_7299072_7333719	7324504	G G	A A	missense_variant missense_variant	MODERATE	HG01358.hp1 HG01891.hp1 HG01952.hp1 others(13): Show HG01358.hp1 HG01891.hp1 HG01952.hp1 HG02258.hp1 HG02486.hp1 HG02717.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp2 HG03516.hp2 NA19240.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0008 a0002c0003t0004g0071 a0002c0003t0004g0090 others(2): Show a0002c0003t0004g0008 a0002c0003t0004g0071 a0002c0003t0004g0090 a0002c0003t0004g0091 a0002c0003t0004g0092	16	428	0.0374	c.144 others(4): Show c.1442G>A	p.Arg others(6): Show p.Arg481His	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	11/13	1702/2349	1442/1743	481/580	chr12	TogoVar
ACSM4_chr12_7299072_7333719	7327004	C C	A A	missense_variant missense_variant	MODERATE	NA18963.hp2 NA18963.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0051 a0009c0014t0001g0051	1	428	0.0023	c.156 others(4): Show c.1565C>A	p.Ala others(6): Show p.Ala522Glu	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	12/13	1825/2349	1565/1743	522/580	chr12	TogoVar
ACSM5_chr16_20404534_20446336	20411529	C C	A A	missense_variant missense_variant	MODERATE	HG00597.hp2 NA18995.hp1 NA19063.hp1 others(1): Show HG00597.hp2 NA18995.hp1 NA19063.hp1 NA19079.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0013 a0009c0011t0001g0064 a0009c0011t0001g0210 others(1): Show a0009c0011t0001g0013 a0009c0011t0001g0064 a0009c0011t0001g0210 a0009c0011t0001g0214	4	432	0.0093	c.45C others(2): Show c.45C>A	p.Asn others(5): Show p.Asn15Lys	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	2/14	192/2796	45/1740	15/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20411678	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00621.hp2 HG01884.hp1 others(47): Show HG00438.hp1 HG00621.hp2 HG01884.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03704.hp1 HG04199.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18960.hp1 NA18967.hp2 NA18974.hp1 NA18980.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19063.hp2 NA19070.hp1 NA19083.hp2 NA19240.hp2 NA20300.hp2	a0004 a0005 a0007 others(4): Show a0004 a0005 a0007 a0011 a0018 a0022 a0026	a0004c0004 a0005c0008 a0005c0009 others(6): Show a0004c0004 a0005c0008 a0005c0009 a0005c0024 a0007c0006 a0011c0013 a0018c0014 a0022c0022 a0026c0023	a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 others(11): Show a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 a0004c0004t0016 a0005c0008t0006 a0005c0009t0006 a0005c0024t0006 a0007c0006t0007 a0007c0006t0008 a0007c0006t0011 a0011c0013t0008 a0018c0014t0005 a0022c0022t0005 a0026c0023t0008	a0004c0004t0005g0018 a0004c0004t0005g0043 a0004c0004t0005g0044 others(37): Show a0004c0004t0005g0018 a0004c0004t0005g0043 a0004c0004t0005g0044 a0004c0004t0005g0280 a0004c0004t0005g0281 a0004c0004t0005g0282 a0004c0004t0005g0283 a0004c0004t0005g0285 a0004c0004t0005g0286 a0004c0004t0005g0287 a0004c0004t0005g0288 a0004c0004t0005g0290 a0004c0004t0005g0292 a0004c0004t0005g0293 a0004c0004t0005g0294 a0004c0004t0007g0276 a0004c0004t0015g0295 a0004c0004t0016g0277 a0005c0008t0006g0306 a0005c0008t0006g0307 a0005c0008t0006g0308 a0005c0008t0006g0309 a0005c0008t0006g0312 a0005c0008t0006g0313 a0005c0008t0006g0314 a0005c0009t0006g0019 a0005c0009t0006g0049 a0005c0009t0006g0310 a0005c0009t0006g0311 a0005c0024t0006g0019 a0007c0006t0007g0291 a0007c0006t0008g0046 a0007c0006t0008g0278 a0007c0006t0008g0289 a0007c0006t0011g0045 a0007c0006t0011g0284 a0011c0013t0008g0017 a0018c0014t0005g0042 a0022c0022t0005g0043 a0026c0023t0008g0279	50	432	0.1157	c.194 others(3): Show c.194G>A	p.Arg others(5): Show p.Arg65Gln	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	2/14	341/2796	194/1740	65/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20418224	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 NA20752.hp2 HG00140.hp1 NA20752.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0002 a0013c0020t0002	a0013c0020t0002g0009 a0013c0020t0002g0009	2	432	0.0046	c.370 others(3): Show c.370C>T	p.Arg others(6): Show p.Arg124Trp	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	3/14	517/2796	370/1740	124/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20419356	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00621.hp2 HG01884.hp1 others(54): Show HG00438.hp1 HG00621.hp2 HG01884.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03704.hp1 HG04199.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18960.hp1 NA18967.hp2 NA18974.hp1 NA18980.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19063.hp2 NA19070.hp1 NA19083.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0004 a0005 a0007 others(6): Show a0004 a0005 a0007 a0008 a0011 a0018 a0022 a0025 a0026	a0004c0004 a0005c0008 a0005c0009 others(8): Show a0004c0004 a0005c0008 a0005c0009 a0005c0024 a0007c0006 a0008c0010 a0011c0013 a0018c0014 a0022c0022 a0025c0026 a0026c0023	a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 others(14): Show a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 a0004c0004t0016 a0005c0008t0006 a0005c0009t0006 a0005c0024t0006 a0007c0006t0007 a0007c0006t0008 a0007c0006t0011 a0008c0010t0005 a0008c0010t0007 a0011c0013t0008 a0018c0014t0005 a0022c0022t0005 a0025c0026t0008 a0026c0023t0008	a0004c0004t0005g0018 a0004c0004t0005g0043 a0004c0004t0005g0044 others(44): Show a0004c0004t0005g0018 a0004c0004t0005g0043 a0004c0004t0005g0044 a0004c0004t0005g0280 a0004c0004t0005g0281 a0004c0004t0005g0282 a0004c0004t0005g0283 a0004c0004t0005g0285 a0004c0004t0005g0286 a0004c0004t0005g0287 a0004c0004t0005g0288 a0004c0004t0005g0290 a0004c0004t0005g0292 a0004c0004t0005g0293 a0004c0004t0005g0294 a0004c0004t0007g0276 a0004c0004t0015g0295 a0004c0004t0016g0277 a0005c0008t0006g0306 a0005c0008t0006g0307 a0005c0008t0006g0308 a0005c0008t0006g0309 a0005c0008t0006g0312 a0005c0008t0006g0313 a0005c0008t0006g0314 a0005c0009t0006g0019 a0005c0009t0006g0049 a0005c0009t0006g0310 a0005c0009t0006g0311 a0005c0024t0006g0019 a0007c0006t0007g0291 a0007c0006t0008g0046 a0007c0006t0008g0278 a0007c0006t0008g0289 a0007c0006t0011g0045 a0007c0006t0011g0284 a0008c0010t0005g0269 a0008c0010t0005g0274 a0008c0010t0007g0270 a0008c0010t0007g0271 a0008c0010t0007g0272 a0008c0010t0007g0273 a0011c0013t0008g0017 a0018c0014t0005g0042 a0022c0022t0005g0043 a0025c0026t0008g0275 a0026c0023t0008g0279	57	432	0.1319	c.544 others(3): Show c.544G>A	p.Glu others(6): Show p.Glu182Lys	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	4/14	691/2796	544/1740	182/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20421283	A A	G G	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00621.hp2 HG01074.hp2 others(67): Show HG00438.hp1 HG00621.hp2 HG01074.hp2 HG01081.hp2 HG01257.hp1 HG01258.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG04199.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18960.hp1 NA18967.hp2 NA18974.hp1 NA18980.hp1 NA18981.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19063.hp2 NA19070.hp1 NA19083.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0004 a0005 a0006 others(8): Show a0004 a0005 a0006 a0007 a0008 a0011 a0018 a0022 a0023 a0025 a0026	a0004c0004 a0005c0008 a0005c0009 others(10): Show a0004c0004 a0005c0008 a0005c0009 a0005c0024 a0006c0005 a0007c0006 a0008c0010 a0011c0013 a0018c0014 a0022c0022 a0023c0025 a0025c0026 a0026c0023	a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 others(18): Show a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 a0004c0004t0016 a0005c0008t0006 a0005c0009t0006 a0005c0024t0006 a0006c0005t0003 a0006c0005t0009 a0006c0005t0012 a0007c0006t0007 a0007c0006t0008 a0007c0006t0011 a0008c0010t0005 a0008c0010t0007 a0011c0013t0008 a0018c0014t0005 a0022c0022t0005 a0023c0025t0006 a0025c0026t0008 a0026c0023t0008	a0004c0004t0005g0018 a0004c0004t0005g0043 a0004c0004t0005g0044 others(55): Show a0004c0004t0005g0018 a0004c0004t0005g0043 a0004c0004t0005g0044 a0004c0004t0005g0280 a0004c0004t0005g0281 a0004c0004t0005g0282 a0004c0004t0005g0283 a0004c0004t0005g0285 a0004c0004t0005g0286 a0004c0004t0005g0287 a0004c0004t0005g0288 a0004c0004t0005g0290 a0004c0004t0005g0292 a0004c0004t0005g0293 a0004c0004t0005g0294 a0004c0004t0007g0276 a0004c0004t0015g0295 a0004c0004t0016g0277 a0005c0008t0006g0306 a0005c0008t0006g0307 a0005c0008t0006g0308 a0005c0008t0006g0309 a0005c0008t0006g0312 a0005c0008t0006g0313 a0005c0008t0006g0314 a0005c0009t0006g0019 a0005c0009t0006g0049 a0005c0009t0006g0310 a0005c0009t0006g0311 a0005c0024t0006g0019 a0006c0005t0003g0224 a0006c0005t0009g0048 a0006c0005t0009g0300 a0006c0005t0009g0301 a0006c0005t0009g0302 a0006c0005t0009g0303 a0006c0005t0009g0304 a0006c0005t0009g0325 a0006c0005t0012g0047 a0006c0005t0012g0299 a0007c0006t0007g0291 a0007c0006t0008g0046 a0007c0006t0008g0278 a0007c0006t0008g0289 a0007c0006t0011g0045 a0007c0006t0011g0284 a0008c0010t0005g0269 a0008c0010t0005g0274 a0008c0010t0007g0270 a0008c0010t0007g0271 a0008c0010t0007g0272 a0008c0010t0007g0273 a0011c0013t0008g0017 a0018c0014t0005g0042 a0022c0022t0005g0043 a0023c0025t0006g0305 a0025c0026t0008g0275 a0026c0023t0008g0279	70	432	0.1620	c.649 others(3): Show c.649A>G	p.Met others(6): Show p.Met217Val	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	5/14	796/2796	649/1740	217/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20421343	C C	A A	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0002 a0014c0027t0002	a0014c0027t0002g0126 a0014c0027t0002g0126	1	431	0.0023	c.709 others(3): Show c.709C>A	p.Pro others(6): Show p.Pro237Thr	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	5/14	856/2796	709/1740	237/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20421343	C C	G G	missense_variant missense_variant	MODERATE	NA19001.hp1 NA19001.hp1	a0014 a0014	a0014c0037 a0014c0037	a0014c0037t0002 a0014c0037t0002	a0014c0037t0002g0194 a0014c0037t0002g0194	1	431	0.0023	c.709 others(3): Show c.709C>G	p.Pro others(6): Show p.Pro237Ala	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	5/14	856/2796	709/1740	237/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20423939	C C	T T	missense_variant missense_variant	MODERATE	HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1	a0018 a0026 a0018 a0026	a0018c0014 a0026c0023 a0018c0014 a0026c0023	a0018c0014t0005 a0026c0023t0008 a0018c0014t0005 a0026c0023t0008	a0018c0014t0005g0042 a0026c0023t0008g0279 a0018c0014t0005g0042 a0026c0023t0008g0279	3	432	0.0069	c.791 others(3): Show c.791C>T	p.Ser others(6): Show p.Ser264Phe	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	6/14	938/2796	791/1740	264/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20423992	C C	T T	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00621.hp2 HG02040.hp2 others(37): Show HG00438.hp1 HG00621.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02615.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03540.hp2 HG04199.hp2 NA18612.hp2 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18960.hp1 NA18967.hp2 NA18974.hp1 NA18980.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19063.hp2 NA19070.hp1 NA19083.hp2 NA19240.hp1 NA19240.hp2	a0004 a0007 a0008 others(3): Show a0004 a0007 a0008 a0011 a0022 a0025	a0004c0004 a0007c0006 a0008c0010 others(3): Show a0004c0004 a0007c0006 a0008c0010 a0011c0013 a0022c0022 a0025c0026	a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 others(9): Show a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 a0004c0004t0016 a0007c0006t0007 a0007c0006t0008 a0007c0006t0011 a0008c0010t0005 a0008c0010t0007 a0011c0013t0008 a0022c0022t0005 a0025c0026t0008	a0004c0004t0005g0018 a0004c0004t0005g0043 a0004c0004t0005g0044 others(30): Show a0004c0004t0005g0018 a0004c0004t0005g0043 a0004c0004t0005g0044 a0004c0004t0005g0280 a0004c0004t0005g0281 a0004c0004t0005g0282 a0004c0004t0005g0283 a0004c0004t0005g0285 a0004c0004t0005g0286 a0004c0004t0005g0287 a0004c0004t0005g0288 a0004c0004t0005g0290 a0004c0004t0005g0292 a0004c0004t0005g0293 a0004c0004t0005g0294 a0004c0004t0007g0276 a0004c0004t0015g0295 a0004c0004t0016g0277 a0007c0006t0007g0291 a0007c0006t0008g0046 a0007c0006t0008g0278 a0007c0006t0008g0289 a0007c0006t0011g0045 a0007c0006t0011g0284 a0008c0010t0005g0269 a0008c0010t0005g0274 a0008c0010t0007g0270 a0008c0010t0007g0271 a0008c0010t0007g0272 a0008c0010t0007g0273 a0011c0013t0008g0017 a0022c0022t0005g0043 a0025c0026t0008g0275	40	432	0.0926	c.844 others(3): Show c.844C>T	p.Leu others(6): Show p.Leu282Phe	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	6/14	991/2796	844/1740	282/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20424049	G G	C C	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02040.hp2	a0022 a0022	a0022c0022 a0022c0022	a0022c0022t0005 a0022c0022t0005	a0022c0022t0005g0043 a0022c0022t0005g0043	1	432	0.0023	c.901 others(3): Show c.901G>C	p.Asp others(6): Show p.Asp301His	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	6/14	1048/2796	901/1740	301/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20427830	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0024 a0024	a0024c0036 a0024c0036	a0024c0036t0013 a0024c0036t0013	a0024c0036t0013g0262 a0024c0036t0013g0262	1	432	0.0023	c.964 others(3): Show c.964A>G	p.Thr others(6): Show p.Thr322Ala	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	7/14	1111/2796	964/1740	322/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20427840	G G	A A	missense_variant missense_variant	MODERATE	HG01358.hp1 HG03942.hp1 HG01358.hp1 HG03942.hp1	a0020 a0028 a0020 a0028	a0020c0029 a0028c0030 a0020c0029 a0028c0030	a0020c0029t0002 a0028c0030t0001 a0020c0029t0002 a0028c0030t0001	a0020c0029t0002g0009 a0028c0030t0001g0223 a0020c0029t0002g0009 a0028c0030t0001g0223	2	432	0.0046	c.974 others(3): Show c.974G>A	p.Arg others(6): Show p.Arg325Gln	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	7/14	1121/2796	974/1740	325/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20429698	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00408.hp2 HG00558.hp1 others(60): Show HG00140.hp2 HG00408.hp2 HG00558.hp1 HG01074.hp2 HG01081.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG01978.hp1 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03669.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19082.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp2	a0003 a0006 a0011 others(2): Show a0003 a0006 a0011 a0012 a0024	a0003c0003 a0006c0005 a0011c0013 others(2): Show a0003c0003 a0006c0005 a0011c0013 a0012c0040 a0024c0036	a0003c0003t0001 a0003c0003t0003 a0006c0005t0003 others(5): Show a0003c0003t0001 a0003c0003t0003 a0006c0005t0003 a0006c0005t0009 a0006c0005t0012 a0011c0013t0008 a0012c0040t0003 a0024c0036t0013	a0003c0003t0001g0142 a0003c0003t0001g0205 a0003c0003t0003g0002 others(44): Show a0003c0003t0001g0142 a0003c0003t0001g0205 a0003c0003t0003g0002 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0035 a0003c0003t0003g0079 a0003c0003t0003g0089 a0003c0003t0003g0094 a0003c0003t0003g0095 a0003c0003t0003g0101 a0003c0003t0003g0102 a0003c0003t0003g0103 a0003c0003t0003g0104 a0003c0003t0003g0105 a0003c0003t0003g0133 a0003c0003t0003g0135 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0140 a0003c0003t0003g0141 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0147 a0003c0003t0003g0175 a0003c0003t0003g0178 a0003c0003t0003g0180 a0003c0003t0003g0181 a0003c0003t0003g0182 a0003c0003t0003g0188 a0003c0003t0003g0216 a0003c0003t0003g0225 a0003c0003t0003g0259 a0006c0005t0003g0224 a0006c0005t0009g0048 a0006c0005t0009g0300 a0006c0005t0009g0301 a0006c0005t0009g0302 a0006c0005t0009g0303 a0006c0005t0009g0304 a0006c0005t0009g0325 a0006c0005t0012g0047 a0006c0005t0012g0299 a0011c0013t0008g0017 a0012c0040t0003g0149 a0024c0036t0013g0262	63	432	0.1458	c.102 others(4): Show c.1022G>A	p.Arg others(6): Show p.Arg341Lys	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	8/14	1169/2796	1022/1740	341/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20429730	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02109.hp2 HG02615.hp1 others(4): Show HG01884.hp1 HG02109.hp2 HG02615.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2	a0005 a0005	a0005c0009 a0005c0024 a0005c0009 a0005c0024	a0005c0009t0006 a0005c0024t0006 a0005c0009t0006 a0005c0024t0006	a0005c0009t0006g0019 a0005c0009t0006g0049 a0005c0009t0006g0310 others(2): Show a0005c0009t0006g0019 a0005c0009t0006g0049 a0005c0009t0006g0310 a0005c0009t0006g0311 a0005c0024t0006g0019	7	432	0.0162	c.105 others(4): Show c.1054C>T	p.Pro others(6): Show p.Pro352Ser	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	8/14	1201/2796	1054/1740	352/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20429731	C C	G G	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00408.hp1 HG00438.hp2 others(214): Show HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0004 a0005 others(11): Show a0001 a0004 a0005 a0008 a0009 a0010 a0012 a0015 a0017 a0018 a0021 a0022 a0023 a0028	a0001c0001 a0001c0007 a0001c0021 others(18): Show a0001c0001 a0001c0007 a0001c0021 a0001c0035 a0001c0038 a0001c0039 a0004c0004 a0005c0008 a0005c0009 a0005c0024 a0008c0010 a0009c0011 a0010c0012 a0012c0019 a0015c0018 a0017c0017 a0018c0014 a0021c0034 a0022c0022 a0023c0025 a0028c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0007t0007 a0001c0007t0011 a0001c0021t0006 a0001c0035t0010 a0001c0038t0001 a0001c0039t0001 a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 a0004c0004t0016 a0005c0008t0006 a0005c0009t0006 a0005c0024t0006 a0008c0010t0005 a0008c0010t0007 a0009c0011t0001 a0010c0012t0001 a0012c0019t0001 a0012c0019t0018 a0015c0018t0001 a0017c0017t0010 a0018c0014t0005 a0021c0034t0001 a0022c0022t0005 a0023c0025t0006 a0028c0030t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(173): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0132 a0001c0001t0002g0226 a0001c0001t0003g0167 a0001c0001t0004g0034 a0001c0001t0004g0170 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0006g0264 a0001c0001t0007g0267 a0001c0001t0007g0268 a0001c0001t0010g0037 a0001c0001t0010g0239 a0001c0001t0013g0261 a0001c0001t0014g0014 a0001c0007t0007g0020 a0001c0007t0007g0319 a0001c0007t0007g0320 a0001c0007t0007g0321 a0001c0007t0007g0322 a0001c0007t0011g0323 a0001c0021t0006g0263 a0001c0035t0010g0252 a0001c0038t0001g0208 a0001c0039t0001g0098 a0004c0004t0005g0018 a0004c0004t0005g0043 a0004c0004t0005g0044 a0004c0004t0005g0280 a0004c0004t0005g0281 a0004c0004t0005g0282 a0004c0004t0005g0283 a0004c0004t0005g0285 a0004c0004t0005g0286 a0004c0004t0005g0287 a0004c0004t0005g0288 a0004c0004t0005g0290 a0004c0004t0005g0292 a0004c0004t0005g0293 a0004c0004t0005g0294 a0004c0004t0007g0276 a0004c0004t0015g0295 a0004c0004t0016g0277 a0005c0008t0006g0306 a0005c0008t0006g0307 a0005c0008t0006g0308 a0005c0008t0006g0309 a0005c0008t0006g0312 a0005c0008t0006g0313 a0005c0008t0006g0314 a0005c0009t0006g0019 a0005c0009t0006g0049 a0005c0009t0006g0310 a0005c0009t0006g0311 a0005c0024t0006g0019 a0008c0010t0005g0269 a0008c0010t0005g0274 a0008c0010t0007g0270 a0008c0010t0007g0271 a0008c0010t0007g0272 a0008c0010t0007g0273 a0009c0011t0001g0013 a0009c0011t0001g0064 a0009c0011t0001g0210 a0009c0011t0001g0214 a0010c0012t0001g0015 a0010c0012t0001g0192 a0012c0019t0001g0222 a0012c0019t0018g0148 a0015c0018t0001g0008 a0015c0018t0001g0120 a0017c0017t0010g0057 a0017c0017t0010g0058 a0018c0014t0005g0042 a0021c0034t0001g0006 a0022c0022t0005g0043 a0023c0025t0006g0305 a0028c0030t0001g0223	217	432	0.5023	c.105 others(4): Show c.1055C>G	p.Pro others(6): Show p.Pro352Arg	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	8/14	1202/2796	1055/1740	352/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20429755	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00408.hp2 HG00558.hp1 others(60): Show HG00140.hp2 HG00408.hp2 HG00558.hp1 HG01074.hp2 HG01081.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG01978.hp1 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03669.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19082.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp2	a0003 a0006 a0011 others(2): Show a0003 a0006 a0011 a0012 a0024	a0003c0003 a0006c0005 a0011c0013 others(2): Show a0003c0003 a0006c0005 a0011c0013 a0012c0040 a0024c0036	a0003c0003t0001 a0003c0003t0003 a0006c0005t0003 others(5): Show a0003c0003t0001 a0003c0003t0003 a0006c0005t0003 a0006c0005t0009 a0006c0005t0012 a0011c0013t0008 a0012c0040t0003 a0024c0036t0013	a0003c0003t0001g0142 a0003c0003t0001g0205 a0003c0003t0003g0002 others(44): Show a0003c0003t0001g0142 a0003c0003t0001g0205 a0003c0003t0003g0002 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0035 a0003c0003t0003g0079 a0003c0003t0003g0089 a0003c0003t0003g0094 a0003c0003t0003g0095 a0003c0003t0003g0101 a0003c0003t0003g0102 a0003c0003t0003g0103 a0003c0003t0003g0104 a0003c0003t0003g0105 a0003c0003t0003g0133 a0003c0003t0003g0135 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0140 a0003c0003t0003g0141 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0147 a0003c0003t0003g0175 a0003c0003t0003g0178 a0003c0003t0003g0180 a0003c0003t0003g0181 a0003c0003t0003g0182 a0003c0003t0003g0188 a0003c0003t0003g0216 a0003c0003t0003g0225 a0003c0003t0003g0259 a0006c0005t0003g0224 a0006c0005t0009g0048 a0006c0005t0009g0300 a0006c0005t0009g0301 a0006c0005t0009g0302 a0006c0005t0009g0303 a0006c0005t0009g0304 a0006c0005t0009g0325 a0006c0005t0012g0047 a0006c0005t0012g0299 a0011c0013t0008g0017 a0012c0040t0003g0149 a0024c0036t0013g0262	63	432	0.1458	c.107 others(4): Show c.1079A>G	p.His others(6): Show p.His360Arg	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	8/14	1226/2796	1079/1740	360/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20431024	A A	C C	missense_variant missense_variant	MODERATE	HG01074.hp1 HG01081.hp1 HG01074.hp1 HG01081.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0001 a0015c0018t0001	a0015c0018t0001g0008 a0015c0018t0001g0120 a0015c0018t0001g0008 a0015c0018t0001g0120	2	432	0.0046	c.115 others(4): Show c.1157A>C	p.Lys others(6): Show p.Lys386Thr	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	9/14	1304/2796	1157/1740	386/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20431272	C C	T T	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0027 a0027	a0027c0033 a0027c0033	a0027c0033t0004 a0027c0033t0004	a0027c0033t0004g0248 a0027c0033t0004g0248	1	432	0.0023	c.125 others(4): Show c.1259C>T	p.Ala others(6): Show p.Ala420Val	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	10/14	1406/2796	1259/1740	420/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20437089	A A	G G	missense_variant missense_variant	MODERATE	HG01109.hp2 NA18953.hp2 NA18957.hp1 others(2): Show HG01109.hp2 NA18953.hp2 NA18957.hp1 NA19006.hp2 NA19056.hp2	a0010 a0019 a0010 a0019	a0010c0012 a0019c0032 a0010c0012 a0019c0032	a0010c0012t0001 a0019c0032t0004 a0010c0012t0001 a0019c0032t0004	a0010c0012t0001g0015 a0010c0012t0001g0192 a0019c0032t0004g0256 a0010c0012t0001g0015 a0010c0012t0001g0192 a0019c0032t0004g0256	5	432	0.0116	c.134 others(4): Show c.1346A>G	p.Asp others(6): Show p.Asp449Gly	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	11/14	1493/2796	1346/1740	449/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20437148	G G	A A	missense_variant missense_variant	MODERATE	HG01515.hp2 HG01515.hp2	a0021 a0021	a0021c0034 a0021c0034	a0021c0034t0001 a0021c0034t0001	a0021c0034t0001g0006 a0021c0034t0001g0006	1	432	0.0023	c.140 others(4): Show c.1405G>A	p.Gly others(6): Show p.Gly469Arg	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	11/14	1552/2796	1405/1740	469/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20437157	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02486.hp2 HG02145.hp1 HG02486.hp2	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0010 a0017c0017t0010	a0017c0017t0010g0057 a0017c0017t0010g0058 a0017c0017t0010g0057 a0017c0017t0010g0058	2	432	0.0046	c.141 others(4): Show c.1414G>A	p.Asp others(6): Show p.Asp472Asn	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	11/14	1561/2796	1414/1740	472/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20437273	G G	A A	missense_variant missense_variant	MODERATE	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0002 a0016c0015t0002	a0016c0015t0002g0003 a0016c0015t0002g0003	2	432	0.0046	c.144 others(4): Show c.1442G>A	p.Arg others(6): Show p.Arg481Gln	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	12/14	1589/2796	1442/1740	481/579	chr16	TogoVar
ACSM6_chr10_95189238_95233929	95194541	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(104): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18944.hp1 NA18959.hp2 NA19030.hp1 NA19060.hp1 NA19079.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0008	a0002c0002 a0002c0005 a0003c0003 others(3): Show a0002c0002 a0002c0005 a0003c0003 a0004c0004 a0005c0006 a0008c0010	a0002c0002t0001 a0002c0005t0001 a0003c0003t0001 others(3): Show a0002c0002t0001 a0002c0005t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001 a0008c0010t0001	a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0038 others(77): Show a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0005t0001g0006 a0002c0005t0001g0041 a0002c0005t0001g0185 a0002c0005t0001g0189 a0002c0005t0001g0207 a0003c0003t0001g0012 a0003c0003t0001g0019 a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0037 a0003c0003t0001g0145 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0184 a0003c0003t0001g0198 a0003c0003t0001g0199 a0004c0004t0001g0008 a0004c0004t0001g0018 a0004c0004t0001g0036 a0004c0004t0001g0157 a0004c0004t0001g0158 a0004c0004t0001g0159 a0004c0004t0001g0160 a0004c0004t0001g0161 a0004c0004t0001g0162 a0004c0004t0001g0163 a0005c0006t0001g0164 a0005c0006t0001g0165 a0008c0010t0001g0146	107	312	0.3429	c.56A others(2): Show c.56A>G	p.Glu others(5): Show p.Glu19Gly	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	2/11	143/1675	56/1443	19/480	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95194603	T T	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(45): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02300.hp1 HG02602.hp1 HG02698.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18944.hp1 NA18959.hp2 NA19060.hp1 NA19079.hp2 NA20805.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0038 others(33): Show a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0005t0001g0006 a0002c0005t0001g0041 a0002c0005t0001g0185 a0002c0005t0001g0189 a0002c0005t0001g0207	48	312	0.1538	c.118 others(3): Show c.118T>A	p.Cys others(5): Show p.Cys40Ser	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	2/11	205/1675	118/1443	40/480	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95202020	G G	C C	missense_variant missense_variant	MODERATE	HG02922.hp2 HG03579.hp1 HG02922.hp2 HG03579.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0164 a0005c0006t0001g0165 a0005c0006t0001g0164 a0005c0006t0001g0165	2	312	0.0064	c.228 others(3): Show c.228G>C	p.Lys others(5): Show p.Lys76Asn	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	3/11	315/1675	228/1443	76/480	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95210706	T T	C C	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0097 a0009c0007t0001g0097	1	312	0.0032	c.668 others(3): Show c.668T>C	p.Ile others(6): Show p.Ile223Thr	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	5/11	755/1675	668/1443	223/480	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95210718	A A	G G	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02109.hp1 HG02145.hp1 others(16): Show HG01884.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA20129.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0006 a0004c0004 a0005c0006	a0004c0004t0001 a0005c0006t0001 a0004c0004t0001 a0005c0006t0001	a0004c0004t0001g0008 a0004c0004t0001g0018 a0004c0004t0001g0036 others(9): Show a0004c0004t0001g0008 a0004c0004t0001g0018 a0004c0004t0001g0036 a0004c0004t0001g0157 a0004c0004t0001g0158 a0004c0004t0001g0159 a0004c0004t0001g0160 a0004c0004t0001g0161 a0004c0004t0001g0162 a0004c0004t0001g0163 a0005c0006t0001g0164 a0005c0006t0001g0165	19	312	0.0609	c.680 others(3): Show c.680A>G	p.Lys others(6): Show p.Lys227Arg	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	5/11	767/1675	680/1443	227/480	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95225300	A A	C C	missense_variant missense_variant	MODERATE	HG02965.hp2 HG02965.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0146 a0008c0010t0001g0146	1	312	0.0032	c.121 others(4): Show c.1211A>C	p.Glu others(6): Show p.Glu404Ala	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	10/11	1298/1675	1211/1443	404/480	chr10	TogoVar
ACSM6_chr10_95189238_95233929	95228755	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0043 a0007c0009t0001g0043	1	312	0.0032	c.141 others(4): Show c.1414G>A	p.Val others(6): Show p.Val472Ile	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	11/11	1501/1675	1414/1443	472/480	chr10	TogoVar
ACSS1_chr20_25001237_25063139	25007826	C C	G G	missense_variant missense_variant	MODERATE	HG00558.hp1 HG00558.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0078 a0010c0023t0001g0078	1	242	0.0041	c.200 others(4): Show c.2006G>C	p.Ser others(6): Show p.Ser669Thr	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	14/14	2043/3632	2006/2070	669/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25013653	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00639.hp1 HG01109.hp1 others(53): Show HG00558.hp2 HG00639.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp2 HG01884.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG03654.hp2 HG03927.hp2 HG06807.hp1 NA18522.hp2 NA18948.hp1 NA18954.hp2 NA18956.hp2 NA18965.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18998.hp1 NA19030.hp2 NA19043.hp1 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19085.hp1 NA21309.hp1	a0002 a0004 a0006 others(3): Show a0002 a0004 a0006 a0007 a0008 a0012	a0002c0004 a0002c0005 a0002c0009 others(12): Show a0002c0004 a0002c0005 a0002c0009 a0002c0012 a0002c0013 a0002c0026 a0002c0027 a0002c0028 a0004c0008 a0004c0018 a0004c0019 a0006c0015 a0007c0014 a0008c0011 a0012c0022	a0002c0004t0002 a0002c0004t0008 a0002c0005t0002 others(14): Show a0002c0004t0002 a0002c0004t0008 a0002c0005t0002 a0002c0009t0001 a0002c0012t0002 a0002c0013t0005 a0002c0026t0001 a0002c0027t0001 a0002c0028t0001 a0004c0008t0001 a0004c0018t0002 a0004c0019t0001 a0006c0015t0005 a0006c0015t0007 a0007c0014t0001 a0008c0011t0001 a0012c0022t0001	a0002c0004t0002g0006 a0002c0004t0002g0101 a0002c0004t0002g0105 others(49): Show a0002c0004t0002g0006 a0002c0004t0002g0101 a0002c0004t0002g0105 a0002c0004t0002g0108 a0002c0004t0002g0109 a0002c0004t0002g0112 a0002c0004t0002g0113 a0002c0004t0002g0116 a0002c0004t0002g0129 a0002c0004t0002g0133 a0002c0004t0002g0160 a0002c0004t0008g0107 a0002c0005t0002g0003 a0002c0005t0002g0038 a0002c0005t0002g0039 a0002c0005t0002g0041 a0002c0005t0002g0042 a0002c0005t0002g0043 a0002c0005t0002g0051 a0002c0005t0002g0062 a0002c0005t0002g0075 a0002c0005t0002g0076 a0002c0009t0001g0148 a0002c0009t0001g0149 a0002c0009t0001g0166 a0002c0009t0001g0196 a0002c0009t0001g0203 a0002c0012t0002g0142 a0002c0012t0002g0167 a0002c0013t0005g0088 a0002c0013t0005g0197 a0002c0013t0005g0206 a0002c0026t0001g0195 a0002c0027t0001g0124 a0002c0028t0001g0079 a0004c0008t0001g0024 a0004c0008t0001g0029 a0004c0008t0001g0030 a0004c0008t0001g0031 a0004c0008t0001g0032 a0004c0008t0001g0033 a0004c0008t0001g0034 a0004c0018t0002g0028 a0004c0019t0001g0026 a0006c0015t0005g0212 a0006c0015t0005g0219 a0006c0015t0007g0216 a0007c0014t0001g0019 a0007c0014t0001g0209 a0008c0011t0001g0004 a0008c0011t0001g0089 a0012c0022t0001g0035	56	242	0.2314	c.146 others(4): Show c.1462G>A	p.Val others(6): Show p.Val488Met	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	10/14	1499/3632	1462/2070	488/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25013978	C C	T T	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02896.hp2 HG02965.hp2 others(3): Show HG02723.hp2 HG02896.hp2 HG02965.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp2	a0007 a0008 a0007 a0008	a0007c0014 a0008c0011 a0007c0014 a0008c0011	a0007c0014t0001 a0008c0011t0001 a0007c0014t0001 a0008c0011t0001	a0007c0014t0001g0019 a0007c0014t0001g0209 a0008c0011t0001g0004 others(1): Show a0007c0014t0001g0019 a0007c0014t0001g0209 a0008c0011t0001g0004 a0008c0011t0001g0089	6	242	0.0248	c.143 others(4): Show c.1435G>A	p.Val others(6): Show p.Val479Ile	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	9/14	1472/3632	1435/2070	479/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25022954	C C	T T	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0011 a0011	a0011c0031 a0011c0031	a0011c0031t0001 a0011c0031t0001	a0011c0031t0001g0218 a0011c0031t0001g0218	1	242	0.0041	c.946 others(3): Show c.946G>A	p.Ala others(6): Show p.Ala316Thr	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	5/14	983/3632	946/2070	316/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25023065	C C	T T	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0010 a0013c0024t0010	a0013c0024t0010g0165 a0013c0024t0010g0165	1	242	0.0041	c.835 others(3): Show c.835G>A	p.Ala others(6): Show p.Ala279Thr	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	5/14	872/3632	835/2070	279/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25030936	G G	A A	missense_variant missense_variant	MODERATE	HG01261.hp1 NA19030.hp1 HG01261.hp1 NA19030.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0087 a0009c0017t0001g0159 a0009c0017t0001g0087 a0009c0017t0001g0159	2	242	0.0083	c.454 others(3): Show c.454C>T	p.Arg others(6): Show p.Arg152Cys	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	3/14	491/3632	454/2070	152/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25057849	G G	T T	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0001 a0012c0022t0001	a0012c0022t0001g0035 a0012c0022t0001g0035	1	242	0.0041	c.254 others(3): Show c.254C>A	p.Thr others(5): Show p.Thr85Asn	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	1/14	291/3632	254/2070	85/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25057917	A A	T T	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02258.hp1 HG02647.hp1 others(10): Show HG02109.hp2 HG02258.hp1 HG02647.hp1 HG02818.hp2 HG02896.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 NA18906.hp1	a0004 a0005 a0004 a0005	a0004c0008 a0004c0018 a0004c0019 others(3): Show a0004c0008 a0004c0018 a0004c0019 a0005c0016 a0005c0020 a0005c0021	a0004c0008t0001 a0004c0018t0002 a0004c0019t0001 others(3): Show a0004c0008t0001 a0004c0018t0002 a0004c0019t0001 a0005c0016t0001 a0005c0020t0006 a0005c0021t0003	a0004c0008t0001g0024 a0004c0008t0001g0029 a0004c0008t0001g0030 others(10): Show a0004c0008t0001g0024 a0004c0008t0001g0029 a0004c0008t0001g0030 a0004c0008t0001g0031 a0004c0008t0001g0032 a0004c0008t0001g0033 a0004c0008t0001g0034 a0004c0018t0002g0028 a0004c0019t0001g0026 a0005c0016t0001g0022 a0005c0016t0001g0027 a0005c0020t0006g0023 a0005c0021t0003g0025	13	242	0.0537	c.186 others(3): Show c.186T>A	p.Ser others(5): Show p.Ser62Arg	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	1/14	223/3632	186/2070	62/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25058075	C C	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp2 HG02055.hp2 others(16): Show HG01109.hp1 HG01109.hp2 HG02055.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 NA19043.hp2	a0003 a0006 a0007 others(1): Show a0003 a0006 a0007 a0011	a0003c0006 a0003c0032 a0006c0015 others(2): Show a0003c0006 a0003c0032 a0006c0015 a0007c0014 a0011c0031	a0003c0006t0001 a0003c0032t0003 a0006c0015t0005 others(3): Show a0003c0006t0001 a0003c0032t0003 a0006c0015t0005 a0006c0015t0007 a0007c0014t0001 a0011c0031t0001	a0003c0006t0001g0020 a0003c0006t0001g0021 a0003c0006t0001g0211 others(13): Show a0003c0006t0001g0020 a0003c0006t0001g0021 a0003c0006t0001g0211 a0003c0006t0001g0213 a0003c0006t0001g0214 a0003c0006t0001g0215 a0003c0006t0001g0217 a0003c0006t0001g0220 a0003c0006t0001g0221 a0003c0032t0003g0210 a0006c0015t0005g0212 a0006c0015t0005g0219 a0006c0015t0007g0216 a0007c0014t0001g0019 a0007c0014t0001g0209 a0011c0031t0001g0218	19	242	0.0785	c.28G others(2): Show c.28G>T	p.Val others(5): Show p.Val10Phe	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	1/14	65/3632	28/2070	10/689	chr20	TogoVar
ACSS1_chr20_25001237_25063139	25058077	C C	T T	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02258.hp1 HG02647.hp1 others(10): Show HG02109.hp2 HG02258.hp1 HG02647.hp1 HG02818.hp2 HG02896.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 NA18906.hp1	a0004 a0005 a0004 a0005	a0004c0008 a0004c0018 a0004c0019 others(3): Show a0004c0008 a0004c0018 a0004c0019 a0005c0016 a0005c0020 a0005c0021	a0004c0008t0001 a0004c0018t0002 a0004c0019t0001 others(3): Show a0004c0008t0001 a0004c0018t0002 a0004c0019t0001 a0005c0016t0001 a0005c0020t0006 a0005c0021t0003	a0004c0008t0001g0024 a0004c0008t0001g0029 a0004c0008t0001g0030 others(10): Show a0004c0008t0001g0024 a0004c0008t0001g0029 a0004c0008t0001g0030 a0004c0008t0001g0031 a0004c0008t0001g0032 a0004c0008t0001g0033 a0004c0008t0001g0034 a0004c0018t0002g0028 a0004c0019t0001g0026 a0005c0016t0001g0022 a0005c0016t0001g0027 a0005c0020t0006g0023 a0005c0021t0003g0025	13	242	0.0537	c.26G others(2): Show c.26G>A	p.Gly others(4): Show p.Gly9Asp	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	1/14	63/3632	26/2070	9/689	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34876769	C C	A A	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0125 a0009c0007t0001g0125	1	310	0.0032	c.124 others(3): Show c.124C>A	p.Pro others(5): Show p.Pro42Thr	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	1/18	158/2885	124/2106	42/701	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34882934	G G	C C	missense_variant missense_variant	MODERATE	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0107 a0004c0006t0001g0282 a0004c0006t0001g0107 a0004c0006t0001g0282	2	310	0.0065	c.319 others(3): Show c.319G>C	p.Val others(6): Show p.Val107Leu	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/18	353/2885	319/2106	107/701	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34882979	G G	A A	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0119 a0007c0008t0001g0119	1	310	0.0032	c.364 others(3): Show c.364G>A	p.Ala others(6): Show p.Ala122Thr	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/18	398/2885	364/2106	122/701	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34913403	G G	C C	missense_variant missense_variant	MODERATE	HG02004.hp2 HG02004.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0023 a0006c0009t0001g0023	1	310	0.0032	c.477 others(3): Show c.477G>C	p.Lys others(6): Show p.Lys159Asn	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	4/18	511/2885	477/2106	159/701	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34919498	T T	A A	missense_variant missense_variant	MODERATE	HG00738.hp1 HG01167.hp2 HG01169.hp1 others(5): Show HG00738.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG03453.hp1 HG03540.hp1 NA18522.hp1 NA18906.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0001 a0003c0005t0001g0019 a0003c0005t0001g0020 others(3): Show a0003c0005t0001g0001 a0003c0005t0001g0019 a0003c0005t0001g0020 a0003c0005t0001g0104 a0003c0005t0001g0122 a0003c0005t0001g0123	8	310	0.0258	c.898 others(3): Show c.898T>A	p.Cys others(6): Show p.Cys300Ser	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	8/18	932/2885	898/2106	300/701	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34921805	T T	C C	missense_variant missense_variant	MODERATE	HG01928.hp2 HG01928.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0076 a0005c0011t0001g0076	1	310	0.0032	c.148 others(4): Show c.1487T>C	p.Val others(6): Show p.Val496Ala	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	13/18	1521/2885	1487/2106	496/701	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34926180	G G	C C	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02717.hp2 HG02723.hp2 others(7): Show HG02572.hp1 HG02717.hp2 HG02723.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03471.hp2 HG03579.hp1 NA18906.hp2	a0002 a0008 a0002 a0008	a0002c0004 a0008c0012 a0002c0004 a0008c0012	a0002c0004t0001 a0008c0012t0001 a0002c0004t0001 a0008c0012t0001	a0002c0004t0001g0012 a0002c0004t0001g0016 a0002c0004t0001g0017 others(7): Show a0002c0004t0001g0012 a0002c0004t0001g0016 a0002c0004t0001g0017 a0002c0004t0001g0144 a0002c0004t0001g0145 a0002c0004t0001g0146 a0002c0004t0001g0147 a0002c0004t0001g0148 a0002c0004t0001g0149 a0008c0012t0001g0014	10	310	0.0323	c.180 others(4): Show c.1802G>C	p.Gly others(6): Show p.Gly601Ala	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	16/18	1836/2885	1802/2106	601/701	chr20	TogoVar

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