Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ACSBG2_chr19_6130667_6198091	6141582	T T	A A	missense_variant missense_variant	MODERATE	HG03492.hp2 HG03492.hp2	a0017 a0017	a0017c0015 a0017c0015	a0017c0015t0001 a0017c0015t0001	a0017c0015t0001g0258 a0017c0015t0001g0258	1	260	0.0038	c.39T others(2): Show c.39T>A	p.Asp others(5): Show p.Asp13Glu	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	2/15	313/2734	39/2001	13/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6147665	C C	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02486.hp2 HG02622.hp2 others(3): Show HG01884.hp2 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG03209.hp1	a0007 a0008 a0016 a0007 a0008 a0016	a0007c0008 a0008c0009 a0016c0018 a0007c0008 a0008c0009 a0016c0018	a0007c0008t0002 a0008c0009t0002 a0016c0018t0001 a0007c0008t0002 a0008c0009t0002 a0016c0018t0001	a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 others(3): Show a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0008c0009t0002g0147 a0008c0009t0002g0164 a0016c0018t0001g0148	6	260	0.0231	c.287 others(3): Show c.287C>A	p.Ser others(5): Show p.Ser96Tyr	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	3/15	561/2734	287/2001	96/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6151720	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0101 a0015c0021t0001g0101	1	260	0.0038	c.311 others(3): Show c.311G>A	p.Arg others(6): Show p.Arg104His	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/15	585/2734	311/2001	104/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6151766	T T	A A	missense_variant missense_variant	MODERATE	HG04228.hp1 HG04228.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0075 a0018c0022t0001g0075	1	260	0.0038	c.357 others(3): Show c.357T>A	p.Phe others(6): Show p.Phe119Leu	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/15	631/2734	357/2001	119/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6151788	C C	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0014 a0013c0016t0001g0014	1	260	0.0038	c.379 others(3): Show c.379C>A	p.Leu others(6): Show p.Leu127Ile	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/15	653/2734	379/2001	127/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6156472	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(163): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18956.hp2 NA18963.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19089.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0007 a0008 a0010 a0013 a0014 a0016 a0017	a0001c0001 a0001c0017 a0001c0020 others(14): Show a0001c0001 a0001c0017 a0001c0020 a0001c0024 a0003c0004 a0003c0005 a0003c0011 a0003c0012 a0004c0003 a0004c0019 a0007c0008 a0008c0009 a0010c0010 a0013c0016 a0014c0023 a0016c0018 a0017c0015	a0001c0001t0001 a0001c0001t0003 a0001c0017t0001 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0017t0001 a0001c0020t0001 a0001c0024t0001 a0003c0004t0002 a0003c0005t0001 a0003c0011t0001 a0003c0012t0002 a0004c0003t0001 a0004c0003t0002 a0004c0019t0002 a0007c0008t0002 a0008c0009t0002 a0010c0010t0002 a0013c0016t0001 a0014c0023t0001 a0016c0018t0001 a0017c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(162): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0163 a0001c0017t0001g0240 a0001c0020t0001g0051 a0001c0024t0001g0036 a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0002g0012 a0003c0004t0002g0013 a0003c0004t0002g0131 a0003c0005t0001g0001 a0003c0005t0001g0133 a0003c0005t0001g0198 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0244 a0003c0011t0001g0144 a0003c0011t0001g0160 a0003c0012t0002g0046 a0003c0012t0002g0170 a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0049 a0004c0003t0002g0134 a0004c0003t0002g0135 a0004c0003t0002g0136 a0004c0003t0002g0137 a0004c0003t0002g0138 a0004c0019t0002g0050 a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0008c0009t0002g0147 a0008c0009t0002g0164 a0010c0010t0002g0052 a0010c0010t0002g0054 a0013c0016t0001g0014 a0014c0023t0001g0202 a0016c0018t0001g0148 a0017c0015t0001g0258	166	260	0.6385	c.428 others(3): Show c.428T>C	p.Val others(6): Show p.Val143Ala	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	5/15	702/2734	428/2001	143/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6156499	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG01074.hp1 others(3): Show HG00099.hp2 HG00140.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp2 NA20752.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0057 a0005c0007t0001g0058 a0005c0007t0001g0059 others(3): Show a0005c0007t0001g0057 a0005c0007t0001g0058 a0005c0007t0001g0059 a0005c0007t0001g0060 a0005c0007t0001g0064 a0005c0007t0001g0065	6	260	0.0231	c.455 others(3): Show c.455A>G	p.Lys others(6): Show p.Lys152Arg	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	5/15	729/2734	455/2001	152/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6165891	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG03209.hp1 HG01884.hp2 HG03209.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0147 a0008c0009t0002g0164 a0008c0009t0002g0147 a0008c0009t0002g0164	2	260	0.0077	c.614 others(3): Show c.614G>A	p.Arg others(6): Show p.Arg205Lys	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/15	888/2734	614/2001	205/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6165983	A A	T T	missense_variant missense_variant	MODERATE	HG00597.hp1 HG00597.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0061 a0012c0025t0001g0061	1	260	0.0038	c.706 others(3): Show c.706A>T	p.Ile others(6): Show p.Ile236Leu	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/15	980/2734	706/2001	236/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6187666	G G	A A	missense_variant missense_variant	MODERATE	HG03195.hp2 HG03209.hp2 HG03195.hp2 HG03209.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0052 a0010c0010t0002g0054 a0010c0010t0002g0052 a0010c0010t0002g0054	2	260	0.0077	c.174 others(4): Show c.1748G>A	p.Arg others(6): Show p.Arg583Gln	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	13/15	2022/2734	1748/2001	583/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6187669	G G	A A	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 HG01884.hp2 others(16): Show HG01069.hp1 HG01071.hp2 HG01884.hp2 HG02027.hp1 HG02080.hp1 HG02129.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02895.hp2 HG03209.hp1 HG03669.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18980.hp2 NA19000.hp1 NA19012.hp2	a0004 a0007 a0008 others(1): Show a0004 a0007 a0008 a0009	a0004c0003 a0004c0019 a0007c0008 others(2): Show a0004c0003 a0004c0019 a0007c0008 a0008c0009 a0009c0013	a0004c0003t0001 a0004c0003t0002 a0004c0019t0002 others(3): Show a0004c0003t0001 a0004c0003t0002 a0004c0019t0002 a0007c0008t0002 a0008c0009t0002 a0009c0013t0002	a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 others(16): Show a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0049 a0004c0003t0002g0134 a0004c0003t0002g0135 a0004c0003t0002g0136 a0004c0003t0002g0137 a0004c0003t0002g0138 a0004c0019t0002g0050 a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0008c0009t0002g0147 a0008c0009t0002g0164 a0009c0013t0002g0110 a0009c0013t0002g0114	19	260	0.0731	c.175 others(4): Show c.1751G>A	p.Gly others(6): Show p.Gly584Asp	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	13/15	2025/2734	1751/2001	584/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6187675	G G	A A	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 HG01884.hp2 others(16): Show HG01069.hp1 HG01071.hp2 HG01884.hp2 HG02027.hp1 HG02080.hp1 HG02129.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02895.hp2 HG03209.hp1 HG03669.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18980.hp2 NA19000.hp1 NA19012.hp2	a0004 a0007 a0008 others(1): Show a0004 a0007 a0008 a0009	a0004c0003 a0004c0019 a0007c0008 others(2): Show a0004c0003 a0004c0019 a0007c0008 a0008c0009 a0009c0013	a0004c0003t0001 a0004c0003t0002 a0004c0019t0002 others(3): Show a0004c0003t0001 a0004c0003t0002 a0004c0019t0002 a0007c0008t0002 a0008c0009t0002 a0009c0013t0002	a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 others(16): Show a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0049 a0004c0003t0002g0134 a0004c0003t0002g0135 a0004c0003t0002g0136 a0004c0003t0002g0137 a0004c0003t0002g0138 a0004c0019t0002g0050 a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0008c0009t0002g0147 a0008c0009t0002g0164 a0009c0013t0002g0110 a0009c0013t0002g0114	19	260	0.0731	c.175 others(4): Show c.1757G>A	p.Gly others(6): Show p.Gly586Asp	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	13/15	2031/2734	1757/2001	586/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6187720	C C	G G	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02572.hp2 HG02647.hp2 others(4): Show HG02145.hp1 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG03098.hp1 HG03139.hp1 HG03579.hp1	a0006 a0014 a0006 a0014	a0006c0006 a0014c0023 a0006c0006 a0014c0023	a0006c0006t0001 a0014c0023t0001 a0006c0006t0001 a0014c0023t0001	a0006c0006t0001g0018 a0006c0006t0001g0023 a0006c0006t0001g0025 others(4): Show a0006c0006t0001g0018 a0006c0006t0001g0023 a0006c0006t0001g0025 a0006c0006t0001g0026 a0006c0006t0001g0027 a0006c0006t0001g0028 a0014c0023t0001g0202	7	260	0.0269	c.180 others(4): Show c.1802C>G	p.Pro others(6): Show p.Pro601Arg	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	13/15	2076/2734	1802/2001	601/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6187789	G G	A A	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 HG01433.hp1 others(39): Show HG01069.hp1 HG01071.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG02027.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03669.hp1 HG03834.hp2 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp2 NA19000.hp1 NA19012.hp2 NA19030.hp2 NA19066.hp2 NA19077.hp2 NA19085.hp1	a0003 a0004 a0007 others(4): Show a0003 a0004 a0007 a0008 a0009 a0010 a0013	a0003c0004 a0003c0005 a0003c0011 others(8): Show a0003c0004 a0003c0005 a0003c0011 a0003c0012 a0004c0003 a0004c0019 a0007c0008 a0008c0009 a0009c0013 a0010c0010 a0013c0016	a0003c0004t0002 a0003c0005t0001 a0003c0011t0001 others(9): Show a0003c0004t0002 a0003c0005t0001 a0003c0011t0001 a0003c0012t0002 a0004c0003t0001 a0004c0003t0002 a0004c0019t0002 a0007c0008t0002 a0008c0009t0002 a0009c0013t0002 a0010c0010t0002 a0013c0016t0001	a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 others(38): Show a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0002g0012 a0003c0004t0002g0013 a0003c0004t0002g0131 a0003c0005t0001g0001 a0003c0005t0001g0133 a0003c0005t0001g0198 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0244 a0003c0011t0001g0144 a0003c0011t0001g0160 a0003c0012t0002g0046 a0003c0012t0002g0170 a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0049 a0004c0003t0002g0134 a0004c0003t0002g0135 a0004c0003t0002g0136 a0004c0003t0002g0137 a0004c0003t0002g0138 a0004c0019t0002g0050 a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0008c0009t0002g0147 a0008c0009t0002g0164 a0009c0013t0002g0110 a0009c0013t0002g0114 a0010c0010t0002g0052 a0010c0010t0002g0054 a0013c0016t0001g0014	42	260	0.1615	c.187 others(4): Show c.1871G>A	p.Arg others(6): Show p.Arg624Lys	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	13/15	2145/2734	1871/2001	624/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6187794	G G	C C	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 HG01433.hp1 others(39): Show HG01069.hp1 HG01071.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG02027.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03669.hp1 HG03834.hp2 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp2 NA19000.hp1 NA19012.hp2 NA19030.hp2 NA19066.hp2 NA19077.hp2 NA19085.hp1	a0003 a0004 a0007 others(4): Show a0003 a0004 a0007 a0008 a0009 a0010 a0013	a0003c0004 a0003c0005 a0003c0011 others(8): Show a0003c0004 a0003c0005 a0003c0011 a0003c0012 a0004c0003 a0004c0019 a0007c0008 a0008c0009 a0009c0013 a0010c0010 a0013c0016	a0003c0004t0002 a0003c0005t0001 a0003c0011t0001 others(9): Show a0003c0004t0002 a0003c0005t0001 a0003c0011t0001 a0003c0012t0002 a0004c0003t0001 a0004c0003t0002 a0004c0019t0002 a0007c0008t0002 a0008c0009t0002 a0009c0013t0002 a0010c0010t0002 a0013c0016t0001	a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 others(38): Show a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0002g0012 a0003c0004t0002g0013 a0003c0004t0002g0131 a0003c0005t0001g0001 a0003c0005t0001g0133 a0003c0005t0001g0198 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0244 a0003c0011t0001g0144 a0003c0011t0001g0160 a0003c0012t0002g0046 a0003c0012t0002g0170 a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0049 a0004c0003t0002g0134 a0004c0003t0002g0135 a0004c0003t0002g0136 a0004c0003t0002g0137 a0004c0003t0002g0138 a0004c0019t0002g0050 a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0008c0009t0002g0147 a0008c0009t0002g0164 a0009c0013t0002g0110 a0009c0013t0002g0114 a0010c0010t0002g0052 a0010c0010t0002g0054 a0013c0016t0001g0014	42	260	0.1615	c.187 others(4): Show c.1876G>C	p.Glu others(6): Show p.Glu626Gln	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	13/15	2150/2734	1876/2001	626/666	chr19	TogoVar
ACSF2_chr17_50421218_50479837	50426316	G G	T T	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01167.hp2 HG01169.hp1 others(9): Show HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG02145.hp1 HG02615.hp2 HG02630.hp1 HG02895.hp1 HG03225.hp2 HG03540.hp2 HG06807.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0008 a0002c0004 a0002c0008	a0002c0004t0002 a0002c0008t0001 a0002c0004t0002 a0002c0008t0001	a0002c0004t0002g0012 a0002c0004t0002g0040 a0002c0004t0002g0041 others(8): Show a0002c0004t0002g0012 a0002c0004t0002g0040 a0002c0004t0002g0041 a0002c0004t0002g0042 a0002c0004t0002g0043 a0002c0004t0002g0044 a0002c0004t0002g0045 a0002c0004t0002g0046 a0002c0004t0002g0047 a0002c0008t0001g0263 a0002c0008t0001g0264	12	318	0.0377	c.55G others(2): Show c.55G>T	p.Gly others(5): Show p.Gly19Trp	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	1/16	99/2177	55/1848	19/615	chr17	TogoVar
ACSF2_chr17_50421218_50479837	50426323	T T	A A	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 HG01099.hp1 others(5): Show HG01069.hp1 HG01071.hp2 HG01099.hp1 HG02572.hp1 HG02886.hp2 HG02895.hp2 HG02976.hp2 HG03540.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0021 a0003c0005t0002g0148 a0003c0005t0002g0149 others(4): Show a0003c0005t0002g0021 a0003c0005t0002g0148 a0003c0005t0002g0149 a0003c0005t0002g0150 a0003c0005t0002g0151 a0003c0005t0002g0152 a0003c0005t0002g0153	8	318	0.0252	c.62T others(2): Show c.62T>A	p.Leu others(5): Show p.Leu21Gln	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	1/16	106/2177	62/1848	21/615	chr17	TogoVar
ACSF2_chr17_50421218_50479837	50426362	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02809.hp2 NA18522.hp2 others(1): Show HG02451.hp1 HG02809.hp2 NA18522.hp2 NA19030.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0002 a0004c0006t0001 a0004c0006t0002	a0004c0006t0001g0135 a0004c0006t0002g0136 a0004c0006t0002g0137 others(1): Show a0004c0006t0001g0135 a0004c0006t0002g0136 a0004c0006t0002g0137 a0004c0006t0002g0138	4	318	0.0126	c.101 others(3): Show c.101C>T	p.Ala others(5): Show p.Ala34Val	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	1/16	145/2177	101/1848	34/615	chr17	TogoVar
ACSF2_chr17_50421218_50479837	50460756	A A	C C	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00438.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0091 a0006c0011t0001g0091	1	318	0.0031	c.208 others(3): Show c.208A>C	p.Asn others(5): Show p.Asn70His	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	2/16	252/2177	208/1848	70/615	chr17	TogoVar
ACSF2_chr17_50421218_50479837	50463410	C C	T T	missense_variant missense_variant	MODERATE	NA18960.hp1 NA19090.hp1 NA18960.hp1 NA19090.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0016 a0005c0007t0001g0016	2	318	0.0063	c.904 others(3): Show c.904C>T	p.Arg others(6): Show p.Arg302Trp	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	8/16	948/2177	904/1848	302/615	chr17	TogoVar
ACSF2_chr17_50421218_50479837	50474547	C C	A A	missense_variant missense_variant	MODERATE	HG02970.hp1 HG02970.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0209 a0007c0010t0001g0209	1	318	0.0031	c.184 others(4): Show c.1843C>A	p.Leu others(6): Show p.Leu615Met	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	16/16	1887/2177	1843/1848	615/615	chr17	TogoVar
ACSF3_chr16_89088852_89161233	89100686	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0007 a0008 a0011	a0001c0001 a0001c0005 a0001c0014 others(7): Show a0001c0001 a0001c0005 a0001c0014 a0001c0018 a0004c0004 a0005c0009 a0005c0017 a0007c0013 a0008c0016 a0011c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0049 a0001c0001t0058 a0001c0001t0059 a0001c0005t0001 a0001c0005t0009 a0001c0005t0010 a0001c0014t0023 a0001c0018t0010 a0004c0004t0003 a0004c0004t0021 a0004c0004t0024 a0004c0004t0029 a0004c0004t0035 a0004c0004t0036 a0005c0009t0010 a0005c0009t0014 a0005c0009t0032 a0005c0009t0037 a0005c0009t0051 a0005c0017t0033 a0007c0013t0001 a0008c0016t0002 a0011c0015t0009	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0089 others(203): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0158 a0001c0001t0001g0194 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0011g0012 a0001c0001t0011g0013 a0001c0001t0011g0014 a0001c0001t0011g0015 a0001c0001t0011g0038 a0001c0001t0011g0039 a0001c0001t0011g0267 a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0012g0047 a0001c0001t0012g0048 a0001c0001t0012g0110 a0001c0001t0012g0268 a0001c0001t0014g0105 a0001c0001t0015g0236 a0001c0001t0015g0237 a0001c0001t0016g0011 a0001c0001t0016g0246 a0001c0001t0017g0104 a0001c0001t0017g0107 a0001c0001t0022g0269 a0001c0001t0025g0011 a0001c0001t0026g0213 a0001c0001t0027g0238 a0001c0001t0028g0345 a0001c0001t0030g0262 a0001c0001t0031g0265 a0001c0001t0034g0242 a0001c0001t0049g0296 a0001c0001t0058g0313 a0001c0001t0059g0255 a0001c0005t0001g0010 a0001c0005t0001g0040 a0001c0005t0001g0041 a0001c0005t0001g0042 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0001g0243 a0001c0005t0001g0244 a0001c0005t0001g0293 a0001c0005t0001g0295 a0001c0005t0009g0196 a0001c0005t0009g0241 a0001c0005t0009g0245 a0001c0005t0009g0289 a0001c0005t0009g0290 a0001c0005t0009g0291 a0001c0005t0009g0301 a0001c0005t0009g0302 a0001c0005t0009g0320 a0001c0005t0009g0321 a0001c0005t0009g0341 a0001c0005t0010g0304 a0001c0005t0010g0305 a0001c0005t0010g0306 a0001c0005t0010g0307 a0001c0005t0010g0314 a0001c0005t0010g0315 a0001c0005t0010g0316 a0001c0005t0010g0319 a0001c0014t0023g0312 a0001c0018t0010g0256 a0004c0004t0003g0001 a0004c0004t0003g0019 a0004c0004t0003g0212 a0004c0004t0003g0218 a0004c0004t0003g0224 a0004c0004t0003g0225 a0004c0004t0003g0226 a0004c0004t0003g0228 a0004c0004t0003g0229 a0004c0004t0003g0297 a0004c0004t0003g0299 a0004c0004t0003g0300 a0004c0004t0003g0323 a0004c0004t0003g0324 a0004c0004t0003g0325 a0004c0004t0003g0326 a0004c0004t0003g0327 a0004c0004t0003g0328 a0004c0004t0003g0330 a0004c0004t0003g0331 a0004c0004t0003g0332 a0004c0004t0003g0333 a0004c0004t0003g0335 a0004c0004t0003g0336 a0004c0004t0003g0337 a0004c0004t0021g0108 a0004c0004t0024g0329 a0004c0004t0029g0227 a0004c0004t0035g0018 a0004c0004t0036g0334 a0005c0009t0010g0303 a0005c0009t0014g0253 a0005c0009t0032g0348 a0005c0009t0037g0037 a0005c0009t0051g0214 a0005c0017t0033g0347 a0007c0013t0001g0275 a0007c0013t0001g0285 a0008c0016t0002g0167 a0011c0015t0009g0322	221	366	0.6038	c.5T> others(1): Show c.5T>C	p.Leu others(4): Show p.Leu2Pro	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	3/11	343/4095	5/1731	2/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89100730	G G	C C	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00544.hp2 HG00558.hp2 others(31): Show HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG02015.hp2 HG02083.hp2 HG02132.hp2 HG03490.hp2 HG03491.hp2 HG03927.hp1 HG04199.hp2 NA18612.hp1 NA18941.hp1 NA18949.hp2 NA18950.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18980.hp1 NA18981.hp2 NA18992.hp1 NA18994.hp1 NA19003.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19080.hp1 NA19084.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0021 a0004c0004t0024 others(3): Show a0004c0004t0003 a0004c0004t0021 a0004c0004t0024 a0004c0004t0029 a0004c0004t0035 a0004c0004t0036	a0004c0004t0003g0001 a0004c0004t0003g0019 a0004c0004t0003g0212 others(27): Show a0004c0004t0003g0001 a0004c0004t0003g0019 a0004c0004t0003g0212 a0004c0004t0003g0218 a0004c0004t0003g0224 a0004c0004t0003g0225 a0004c0004t0003g0226 a0004c0004t0003g0228 a0004c0004t0003g0229 a0004c0004t0003g0297 a0004c0004t0003g0299 a0004c0004t0003g0300 a0004c0004t0003g0323 a0004c0004t0003g0324 a0004c0004t0003g0325 a0004c0004t0003g0326 a0004c0004t0003g0327 a0004c0004t0003g0328 a0004c0004t0003g0330 a0004c0004t0003g0331 a0004c0004t0003g0332 a0004c0004t0003g0333 a0004c0004t0003g0335 a0004c0004t0003g0336 a0004c0004t0003g0337 a0004c0004t0021g0108 a0004c0004t0024g0329 a0004c0004t0029g0227 a0004c0004t0035g0018 a0004c0004t0036g0334	34	366	0.0929	c.49G others(2): Show c.49G>C	p.Ala others(5): Show p.Ala17Pro	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	3/11	387/4095	49/1731	17/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89101072	G G	A A	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02280.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0019 a0009c0019t0019	a0009c0019t0019g0239 a0009c0019t0019g0239	1	366	0.0027	c.391 others(3): Show c.391G>A	p.Ala others(6): Show p.Ala131Thr	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	3/11	729/4095	391/1731	131/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89101281	C C	G G	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0004 a0010c0024t0004	a0010c0024t0004g0122 a0010c0024t0004g0122	1	366	0.0027	c.600 others(3): Show c.600C>G	p.Ile others(6): Show p.Ile200Met	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	3/11	938/4095	600/1731	200/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89114475	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0007 others(4): Show a0001 a0003 a0007 a0008 a0009 a0011 a0012	a0001c0001 a0001c0005 a0001c0014 others(10): Show a0001c0001 a0001c0005 a0001c0014 a0001c0018 a0003c0006 a0003c0007 a0003c0008 a0003c0010 a0007c0013 a0008c0016 a0009c0019 a0011c0015 a0012c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0049 a0001c0001t0058 a0001c0001t0059 a0001c0005t0001 a0001c0005t0009 a0001c0005t0010 a0001c0014t0023 a0001c0018t0010 a0003c0006t0007 a0003c0006t0046 a0003c0006t0057 a0003c0007t0007 a0003c0008t0008 a0003c0008t0019 a0003c0008t0045 a0003c0008t0047 a0003c0010t0004 a0003c0010t0008 a0003c0010t0056 a0007c0013t0001 a0008c0016t0002 a0009c0019t0019 a0011c0015t0009 a0012c0022t0007	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0089 others(203): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0158 a0001c0001t0001g0194 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0011g0012 a0001c0001t0011g0013 a0001c0001t0011g0014 a0001c0001t0011g0015 a0001c0001t0011g0038 a0001c0001t0011g0039 a0001c0001t0011g0267 a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0012g0047 a0001c0001t0012g0048 a0001c0001t0012g0110 a0001c0001t0012g0268 a0001c0001t0014g0105 a0001c0001t0015g0236 a0001c0001t0015g0237 a0001c0001t0016g0011 a0001c0001t0016g0246 a0001c0001t0017g0104 a0001c0001t0017g0107 a0001c0001t0022g0269 a0001c0001t0025g0011 a0001c0001t0026g0213 a0001c0001t0027g0238 a0001c0001t0028g0345 a0001c0001t0030g0262 a0001c0001t0031g0265 a0001c0001t0034g0242 a0001c0001t0049g0296 a0001c0001t0058g0313 a0001c0001t0059g0255 a0001c0005t0001g0010 a0001c0005t0001g0040 a0001c0005t0001g0041 a0001c0005t0001g0042 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0001g0243 a0001c0005t0001g0244 a0001c0005t0001g0293 a0001c0005t0001g0295 a0001c0005t0009g0196 a0001c0005t0009g0241 a0001c0005t0009g0245 a0001c0005t0009g0289 a0001c0005t0009g0290 a0001c0005t0009g0291 a0001c0005t0009g0301 a0001c0005t0009g0302 a0001c0005t0009g0320 a0001c0005t0009g0321 a0001c0005t0009g0341 a0001c0005t0010g0304 a0001c0005t0010g0305 a0001c0005t0010g0306 a0001c0005t0010g0307 a0001c0005t0010g0314 a0001c0005t0010g0315 a0001c0005t0010g0316 a0001c0005t0010g0319 a0001c0014t0023g0312 a0001c0018t0010g0256 a0003c0006t0007g0005 a0003c0006t0007g0022 a0003c0006t0007g0049 a0003c0006t0007g0055 a0003c0006t0007g0056 a0003c0006t0007g0058 a0003c0006t0007g0059 a0003c0006t0007g0060 a0003c0006t0007g0062 a0003c0006t0007g0072 a0003c0006t0007g0073 a0003c0006t0007g0074 a0003c0006t0007g0111 a0003c0006t0046g0061 a0003c0006t0057g0338 a0003c0007t0007g0050 a0003c0007t0007g0051 a0003c0007t0007g0052 a0003c0007t0007g0053 a0003c0007t0007g0054 a0003c0007t0007g0069 a0003c0007t0007g0097 a0003c0007t0007g0098 a0003c0007t0007g0099 a0003c0008t0008g0036 a0003c0008t0008g0063 a0003c0008t0008g0064 a0003c0008t0019g0240 a0003c0008t0045g0017 a0003c0008t0047g0057 a0003c0010t0004g0132 a0003c0010t0004g0133 a0003c0010t0008g0125 a0003c0010t0056g0157 a0007c0013t0001g0275 a0007c0013t0001g0285 a0008c0016t0002g0167 a0009c0019t0019g0239 a0011c0015t0009g0322 a0012c0022t0007g0068	218	366	0.5956	c.111 others(4): Show c.1114G>A	p.Val others(6): Show p.Val372Met	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	6/11	1452/4095	1114/1731	372/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89133239	C C	T T	missense_variant missense_variant	MODERATE	HG02015.hp1 HG02015.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0167 a0008c0016t0002g0167	1	366	0.0027	c.134 others(4): Show c.1343C>T	p.Thr others(6): Show p.Thr448Ile	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/11	1681/4095	1343/1731	448/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89145306	G G	A A	missense_variant missense_variant	MODERATE	HG03239.hp2 HG03239.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0009 a0011c0015t0009	a0011c0015t0009g0322 a0011c0015t0009g0322	1	366	0.0027	c.140 others(4): Show c.1406G>A	p.Arg others(6): Show p.Arg469Gln	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	9/11	1744/4095	1406/1731	469/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89145356	G G	A A	missense_variant missense_variant	MODERATE	NA18940.hp1 NA18945.hp2 NA19085.hp2 NA18940.hp1 NA18945.hp2 NA19085.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0006 a0006c0012t0006	a0006c0012t0006g0201 a0006c0012t0006g0202 a0006c0012t0006g0203 a0006c0012t0006g0201 a0006c0012t0006g0202 a0006c0012t0006g0203	3	366	0.0082	c.145 others(4): Show c.1456G>A	p.Ala others(6): Show p.Ala486Thr	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	9/11	1794/4095	1456/1731	486/576	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89145998	C C	G G	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0007 a0012c0022t0007	a0012c0022t0007g0068 a0012c0022t0007g0068	1	366	0.0027	c.156 others(4): Show c.1562C>G	p.Thr others(6): Show p.Thr521Ser	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/11	1900/4095	1562/1731	521/576	chr16	TogoVar
ACSL1_chr4_184750595_184830968	184773859	T T	A A	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0328 a0002c0011t0001g0328	1	390	0.0026	c.773 others(3): Show c.773A>T	p.Asn others(6): Show p.Asn258Ile	ACSL1	ENSG00000151726.16	transcript	ENST00000281455.7	protein_coding	8/21	858/3712	773/2097	258/698	chr4	TogoVar
ACSL1_chr4_184750595_184830968	184776913	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0150 a0003c0012t0002g0150	1	390	0.0026	c.548 others(3): Show c.548A>G	p.Asn others(6): Show p.Asn183Ser	ACSL1	ENSG00000151726.16	transcript	ENST00000281455.7	protein_coding	6/21	633/3712	548/2097	183/698	chr4	TogoVar
ACSL3_chr2_222856036_222949639	222919163	A A	G G	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0022 a0003c0005t0022	a0003c0005t0022g0200 a0003c0005t0022g0200	1	250	0.0040	c.766 others(3): Show c.766A>G	p.Met others(6): Show p.Met256Val	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	7/17	1195/5577	766/2163	256/720	chr2	TogoVar
ACSL3_chr2_222856036_222949639	222919191	A A	G G	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0015 a0004c0004t0003g0015	1	250	0.0040	c.794 others(3): Show c.794A>G	p.Lys others(6): Show p.Lys265Arg	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	7/17	1223/5577	794/2163	265/720	chr2	TogoVar
ACSL3_chr2_222856036_222949639	222934623	G G	C C	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0017 a0002c0003t0020g0017	1	250	0.0040	c.194 others(4): Show c.1941G>C	p.Glu others(6): Show p.Glu647Asp	ACSL3	ENSG00000123983.15	transcript	ENST00000357430.8	protein_coding	16/17	2370/5577	1941/2163	647/720	chr2	TogoVar
ACSL4_chrX_109636335_109738257	109681124	C C	G G	missense_variant missense_variant	MODERATE	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0071 a0003c0002t0001g0071	1	220	0.0045	c.529 others(3): Show c.529G>C	p.Asp others(6): Show p.Asp177His	ACSL4	ENSG00000068366.21	transcript	ENST00000672401.1	protein_coding	6/16	713/4891	529/2013	177/670	chrX	TogoVar
ACSL4_chrX_109636335_109738257	109683296	T T	C C	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0060 a0002c0004t0001g0060	1	220	0.0045	c.68A others(2): Show c.68A>G	p.His others(5): Show p.His23Arg	ACSL4	ENSG00000068366.21	transcript	ENST00000672401.1	protein_coding	3/16	252/4891	68/2013	23/670	chrX	TogoVar
ACSL5_chr10_112369116_112433376	112394996	T T	C C	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0303 a0006c0007t0002g0303	1	362	0.0028	c.50T others(2): Show c.50T>C	p.Leu others(5): Show p.Leu17Ser	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	2/21	233/3253	50/2052	17/683	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112409518	A A	G G	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00544.hp2 HG01074.hp1 others(24): Show HG00323.hp2 HG00544.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01928.hp2 HG02055.hp2 HG02129.hp2 HG02293.hp2 NA18939.hp1 NA18948.hp1 NA18953.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18981.hp2 NA18985.hp2 NA19004.hp2 NA19011.hp2 NA19012.hp1 NA19066.hp2 NA19081.hp2 NA19082.hp1 NA19088.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0122 a0002c0002t0003g0003 a0002c0002t0003g0004 others(22): Show a0002c0002t0001g0122 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0143 a0002c0002t0003g0144 a0002c0002t0003g0157 a0002c0002t0003g0158 a0002c0002t0003g0159 a0002c0002t0003g0160 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164	27	362	0.0746	c.544 others(3): Show c.544A>G	p.Met others(6): Show p.Met182Val	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	7/21	727/3253	544/2052	182/683	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112410599	G G	A A	missense_variant missense_variant	MODERATE	NA18906.hp1 NA18906.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0017 a0008c0008t0002g0017	1	362	0.0028	c.760 others(3): Show c.760G>A	p.Asp others(6): Show p.Asp254Asn	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	9/21	943/3253	760/2052	254/683	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112413225	G G	A A	missense_variant missense_variant	MODERATE	HG01255.hp1 HG01255.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0134 a0005c0009t0001g0134	1	362	0.0028	c.100 others(4): Show c.1001G>A	p.Arg others(6): Show p.Arg334Gln	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	12/21	1184/3253	1001/2052	334/683	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112413273	C C	T T	missense_variant missense_variant	MODERATE	HG04199.hp2 HG04199.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0179 a0007c0011t0001g0179	1	362	0.0028	c.104 others(4): Show c.1049C>T	p.Ala others(6): Show p.Ala350Val	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	12/21	1232/3253	1049/2052	350/683	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112417858	G G	A A	missense_variant missense_variant	MODERATE	HG01433.hp1 HG02451.hp2 HG01433.hp1 HG02451.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0166 a0004c0006t0001g0186 a0004c0006t0001g0166 a0004c0006t0001g0186	2	362	0.0055	c.123 others(4): Show c.1231G>A	p.Gly others(6): Show p.Gly411Arg	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	14/21	1414/3253	1231/2052	411/683	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112422015	A A	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG03130.hp1 HG03579.hp1 others(2): Show HG02896.hp1 HG03130.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1	a0003 a0008 a0003 a0008	a0003c0004 a0008c0008 a0003c0004 a0008c0008	a0003c0004t0002 a0008c0008t0002 a0003c0004t0002 a0008c0008t0002	a0003c0004t0002g0017 a0003c0004t0002g0319 a0003c0004t0002g0320 others(2): Show a0003c0004t0002g0017 a0003c0004t0002g0319 a0003c0004t0002g0320 a0003c0004t0002g0337 a0008c0008t0002g0017	5	362	0.0138	c.145 others(4): Show c.1456A>G	p.Thr others(6): Show p.Thr486Ala	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	16/21	1639/3253	1456/2052	486/683	chr10	TogoVar
ACSL6_chr5_131944973_132016658	131966417	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20300.hp1 NA20300.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0120 a0005c0008t0004g0120	1	324	0.0031	c.171 others(4): Show c.1712C>T	p.Pro others(6): Show p.Pro571Leu	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	17/21	1817/6535	1712/2169	571/722	chr5	TogoVar
ACSL6_chr5_131944973_132016658	131990934	A A	C C	missense_variant missense_variant	MODERATE	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0208 a0004c0005t0002g0208	1	324	0.0031	c.304 others(3): Show c.304T>G	p.Ser others(6): Show p.Ser102Ala	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	3/21	409/6535	304/2169	102/722	chr5	TogoVar
ACSL6_chr5_131944973_132016658	131990952	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0139 a0002c0010t0003g0139	1	324	0.0031	c.286 others(3): Show c.286C>T	p.Arg others(5): Show p.Arg96Trp	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	3/21	391/6535	286/2169	96/722	chr5	TogoVar
ACSL6_chr5_131944973_132016658	131994159	G G	A A	missense_variant missense_variant	MODERATE	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0108 a0003c0011t0002g0108	1	324	0.0031	c.142 others(3): Show c.142C>T	p.Arg others(5): Show p.Arg48Cys	ACSL6	ENSG00000164398.15	transcript	ENST00000651883.2	protein_coding	2/21	247/6535	142/2169	48/722	chr5	TogoVar
ACSM1_chr16_20618235_20702680	20625515	T T	C C	missense_variant missense_variant	MODERATE	HG01496.hp1 NA18906.hp2 HG01496.hp1 NA18906.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0246 a0004c0010t0002g0274 a0004c0010t0002g0246 a0004c0010t0002g0274	2	316	0.0063	c.143 others(4): Show c.1435A>G	p.Ile others(6): Show p.Ile479Val	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	12/14	1531/2081	1435/1734	479/577	chr16	TogoVar
ACSM1_chr16_20618235_20702680	20627316	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02615.hp2 HG02896.hp1 HG02615.hp2 HG02896.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0081 a0006c0009t0001g0100 a0006c0009t0001g0081 a0006c0009t0001g0100	2	316	0.0063	c.130 others(4): Show c.1300G>A	p.Gly others(6): Show p.Gly434Ser	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	11/14	1396/2081	1300/1734	434/577	chr16	TogoVar

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