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
AATK_chr17_81112295_81171221	81121918	G G	C C	missense_variant missense_variant	MODERATE	NA19068.hp1 NA19068.hp1	a0035 a0035	a0035c0038 a0035c0038	a0035c0038t0001 a0035c0038t0001	a0035c0038t0001g0166 a0035c0038t0001g0166	1	366	0.0027	c.201 others(4): Show c.2018C>G	p.Ala others(6): Show p.Ala673Gly	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2247/5461	2018/4125	673/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121919	C C	G G	missense_variant missense_variant	MODERATE	NA19068.hp1 NA19068.hp1	a0035 a0035	a0035c0038 a0035c0038	a0035c0038t0001 a0035c0038t0001	a0035c0038t0001g0166 a0035c0038t0001g0166	1	366	0.0027	c.201 others(4): Show c.2017G>C	p.Ala others(6): Show p.Ala673Pro	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2246/5461	2017/4125	673/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81122084	T T	G G	missense_variant missense_variant	MODERATE	NA19065.hp2 NA19065.hp2	a0034 a0034	a0034c0052 a0034c0052	a0034c0052t0001 a0034c0052t0001	a0034c0052t0001g0162 a0034c0052t0001g0162	1	366	0.0027	c.185 others(4): Show c.1852A>C	p.Ser others(6): Show p.Ser618Arg	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2081/5461	1852/4125	618/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81122104	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp2 HG03209.hp1 HG02145.hp2 HG03209.hp1	a0020 a0027 a0020 a0027	a0020c0053 a0027c0054 a0020c0053 a0027c0054	a0020c0053t0002 a0027c0054t0001 a0020c0053t0002 a0027c0054t0001	a0020c0053t0002g0224 a0027c0054t0001g0221 a0020c0053t0002g0224 a0027c0054t0001g0221	2	366	0.0055	c.183 others(4): Show c.1832C>T	p.Ser others(6): Show p.Ser611Leu	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2061/5461	1832/4125	611/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81122142	G G	C C	missense_variant missense_variant	MODERATE	NA19070.hp1 NA19070.hp1	a0036 a0036	a0036c0055 a0036c0055	a0036c0055t0001 a0036c0055t0001	a0036c0055t0001g0093 a0036c0055t0001g0093	1	366	0.0027	c.179 others(4): Show c.1794C>G	p.Ser others(6): Show p.Ser598Arg	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2023/5461	1794/4125	598/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81122300	C C	G G	missense_variant missense_variant	MODERATE	HG02602.hp2 HG02602.hp2	a0021 a0021	a0021c0063 a0021c0063	a0021c0063t0001 a0021c0063t0001	a0021c0063t0001g0108 a0021c0063t0001g0108	1	366	0.0027	c.163 others(4): Show c.1636G>C	p.Asp others(6): Show p.Asp546His	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	1865/5461	1636/4125	546/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81122315	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp2 HG00438.hp2 others(32): Show HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00733.hp2 HG00735.hp1 HG01074.hp2 HG01123.hp1 HG01256.hp1 HG01257.hp1 HG01884.hp2 HG02109.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02809.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03710.hp1 HG04184.hp1 NA18959.hp2 NA18975.hp2 NA18977.hp1 NA19043.hp1 NA19079.hp2	a0004 a0008 a0010 others(4): Show a0004 a0008 a0010 a0023 a0026 a0030 a0033	a0004c0005 a0004c0029 a0004c0035 others(8): Show a0004c0005 a0004c0029 a0004c0035 a0004c0062 a0008c0010 a0010c0014 a0010c0030 a0023c0072 a0026c0034 a0030c0036 a0033c0037	a0004c0005t0001 a0004c0005t0005 a0004c0029t0001 others(9): Show a0004c0005t0001 a0004c0005t0005 a0004c0029t0001 a0004c0035t0001 a0004c0062t0001 a0008c0010t0002 a0010c0014t0001 a0010c0030t0001 a0023c0072t0001 a0026c0034t0002 a0030c0036t0001 a0033c0037t0002	a0004c0005t0001g0015 a0004c0005t0001g0049 a0004c0005t0001g0050 others(29): Show a0004c0005t0001g0015 a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0051 a0004c0005t0001g0057 a0004c0005t0001g0058 a0004c0005t0001g0078 a0004c0005t0001g0110 a0004c0005t0001g0118 a0004c0005t0001g0177 a0004c0005t0001g0178 a0004c0005t0001g0249 a0004c0005t0001g0254 a0004c0005t0001g0317 a0004c0005t0005g0021 a0004c0029t0001g0020 a0004c0035t0001g0111 a0004c0062t0001g0197 a0008c0010t0002g0196 a0008c0010t0002g0238 a0008c0010t0002g0284 a0008c0010t0002g0305 a0008c0010t0002g0307 a0008c0010t0002g0312 a0008c0010t0002g0314 a0010c0014t0001g0019 a0010c0014t0001g0247 a0010c0030t0001g0285 a0023c0072t0001g0322 a0026c0034t0002g0308 a0030c0036t0001g0071 a0033c0037t0002g0315	35	366	0.0956	c.162 others(4): Show c.1621G>A	p.Ala others(6): Show p.Ala541Thr	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	1850/5461	1621/4125	541/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81122472	C C	A A	missense_variant missense_variant	MODERATE	HG03471.hp2 HG03486.hp1 HG03471.hp2 HG03486.hp1	a0028 a0029 a0028 a0029	a0028c0068 a0029c0067 a0028c0068 a0029c0067	a0028c0068t0004 a0029c0067t0004 a0028c0068t0004 a0029c0067t0004	a0028c0068t0004g0227 a0029c0067t0004g0333 a0028c0068t0004g0227 a0029c0067t0004g0333	2	366	0.0055	c.146 others(4): Show c.1464G>T	p.Glu others(6): Show p.Glu488Asp	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	1693/5461	1464/4125	488/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81122717	C C	G G	missense_variant missense_variant	MODERATE	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0001 a0014c0026t0001	a0014c0026t0001g0012 a0014c0026t0001g0012	2	366	0.0055	c.121 others(4): Show c.1219G>C	p.Glu others(6): Show p.Glu407Gln	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	1448/5461	1219/4125	407/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81131067	G G	A A	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0023 a0023	a0023c0072 a0023c0072	a0023c0072t0001 a0023c0072t0001	a0023c0072t0001g0322 a0023c0072t0001g0322	1	366	0.0027	c.328 others(3): Show c.328C>T	p.Arg others(6): Show p.Arg110Cys	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	3/14	557/5461	328/4125	110/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81131145	T T	C C	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02451.hp1 HG02630.hp2 HG02055.hp1 HG02451.hp1 HG02630.hp2	a0015 a0022 a0015 a0022	a0015c0028 a0022c0074 a0015c0028 a0022c0074	a0015c0028t0001 a0022c0074t0001 a0015c0028t0001 a0022c0074t0001	a0015c0028t0001g0342 a0015c0028t0001g0343 a0022c0074t0001g0180 a0015c0028t0001g0342 a0015c0028t0001g0343 a0022c0074t0001g0180	3	366	0.0082	c.250 others(3): Show c.250A>G	p.Thr others(5): Show p.Thr84Ala	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	3/14	479/5461	250/4125	84/1374	chr17	TogoVar
ABAT_chr16_8669617_8789570	8735794	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01169.hp1 HG02055.hp1 HG01167.hp2 HG01169.hp1 HG02055.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0010 a0003c0010t0001 a0003c0010t0010	a0003c0010t0001g0234 a0003c0010t0010g0338 a0003c0010t0010g0339 a0003c0010t0001g0234 a0003c0010t0010g0338 a0003c0010t0010g0339	3	360	0.0083	c.55C others(2): Show c.55C>T	p.Arg others(5): Show p.Arg19Cys	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/16	191/4779	55/1503	19/500	chr16	TogoVar
ABAT_chr16_8669617_8789570	8746040	T T	C C	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0035 a0006c0014t0001g0035	1	360	0.0028	c.110 others(3): Show c.110T>C	p.Val others(5): Show p.Val37Ala	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	3/16	246/4779	110/1503	37/500	chr16	TogoVar
ABAT_chr16_8669617_8789570	8746097	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(193): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0003 a0001c0011 others(6): Show a0001c0001 a0001c0003 a0001c0011 a0001c0013 a0001c0021 a0001c0022 a0001c0023 a0004c0020 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0047 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0015 a0001c0003t0035 a0001c0003t0036 a0001c0003t0044 a0001c0011t0001 a0001c0011t0002 a0001c0013t0002 a0001c0021t0001 a0001c0022t0002 a0001c0023t0024 a0004c0020t0005 a0006c0014t0001	a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0051 others(193): Show a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0288 a0001c0001t0001g0300 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0333 a0001c0001t0001g0361 a0001c0001t0002g0027 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0086 a0001c0001t0002g0096 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0146 a0001c0001t0002g0152 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0220 a0001c0001t0002g0243 a0001c0001t0002g0251 a0001c0001t0002g0255 a0001c0001t0002g0273 a0001c0001t0002g0280 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0296 a0001c0001t0002g0317 a0001c0001t0002g0347 a0001c0001t0002g0350 a0001c0001t0002g0354 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0003g0061 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0003g0105 a0001c0001t0003g0131 a0001c0001t0003g0164 a0001c0001t0003g0212 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0324 a0001c0001t0003g0353 a0001c0001t0004g0066 a0001c0001t0004g0097 a0001c0001t0004g0118 a0001c0001t0004g0126 a0001c0001t0004g0268 a0001c0001t0004g0320 a0001c0001t0004g0325 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0056 a0001c0001t0005g0075 a0001c0001t0005g0106 a0001c0001t0005g0226 a0001c0001t0005g0294 a0001c0001t0006g0298 a0001c0001t0006g0307 a0001c0001t0008g0034 a0001c0001t0009g0279 a0001c0001t0011g0232 a0001c0001t0011g0326 a0001c0001t0012g0246 a0001c0001t0021g0323 a0001c0001t0022g0030 a0001c0001t0023g0205 a0001c0001t0025g0259 a0001c0001t0028g0072 a0001c0001t0037g0286 a0001c0001t0039g0103 a0001c0001t0040g0287 a0001c0001t0042g0088 a0001c0001t0043g0049 a0001c0001t0047g0309 a0001c0003t0001g0028 a0001c0003t0001g0090 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0099 a0001c0003t0001g0228 a0001c0003t0001g0235 a0001c0003t0001g0247 a0001c0003t0001g0356 a0001c0003t0002g0052 a0001c0003t0002g0127 a0001c0003t0002g0170 a0001c0003t0002g0172 a0001c0003t0002g0182 a0001c0003t0002g0244 a0001c0003t0003g0055 a0001c0003t0003g0069 a0001c0003t0003g0071 a0001c0003t0003g0073 a0001c0003t0003g0084 a0001c0003t0003g0089 a0001c0003t0003g0102 a0001c0003t0003g0107 a0001c0003t0003g0113 a0001c0003t0003g0117 a0001c0003t0003g0123 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0147 a0001c0003t0003g0153 a0001c0003t0003g0159 a0001c0003t0003g0168 a0001c0003t0003g0178 a0001c0003t0003g0204 a0001c0003t0003g0213 a0001c0003t0003g0214 a0001c0003t0003g0216 a0001c0003t0003g0230 a0001c0003t0003g0258 a0001c0003t0003g0262 a0001c0003t0003g0271 a0001c0003t0003g0272 a0001c0003t0003g0295 a0001c0003t0003g0299 a0001c0003t0003g0345 a0001c0003t0003g0355 a0001c0003t0003g0357 a0001c0003t0003g0359 a0001c0003t0004g0108 a0001c0003t0004g0142 a0001c0003t0004g0274 a0001c0003t0004g0284 a0001c0003t0004g0285 a0001c0003t0004g0289 a0001c0003t0004g0360 a0001c0003t0005g0227 a0001c0003t0015g0063 a0001c0003t0035g0261 a0001c0003t0036g0150 a0001c0003t0044g0256 a0001c0011t0001g0199 a0001c0011t0002g0198 a0001c0013t0002g0196 a0001c0013t0002g0197 a0001c0021t0001g0120 a0001c0022t0002g0257 a0001c0023t0024g0276 a0004c0020t0005g0321 a0006c0014t0001g0035	196	360	0.5444	c.167 others(3): Show c.167A>G	p.Gln others(5): Show p.Gln56Arg	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	3/16	303/4779	167/1503	56/500	chr16	TogoVar
ABAT_chr16_8669617_8789570	8768230	T T	C C	missense_variant missense_variant	MODERATE	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0005 a0004c0020t0005	a0004c0020t0005g0321 a0004c0020t0005g0321	1	360	0.0028	c.641 others(3): Show c.641T>C	p.Met others(6): Show p.Met214Thr	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	10/16	777/4779	641/1503	214/500	chr16	TogoVar
ABAT_chr16_8669617_8789570	8779483	G G	A A	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0157 a0005c0019t0002g0157	1	360	0.0028	c.127 others(4): Show c.1274G>A	p.Arg others(6): Show p.Arg425Gln	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	15/16	1410/4779	1274/1503	425/500	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69150035	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01243.hp1	a0015 a0015	a0015c0029 a0015c0029	a0015c0029t0014 a0015c0029t0014	a0015c0029t0014g0198 a0015c0029t0014g0198	1	346	0.0029	c.442 others(4): Show c.4426C>T	p.Pro others(7): Show p.Pro1476Ser	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	37/39	4982/6008	4426/4632	1476/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69153849	G G	C C	missense_variant missense_variant	MODERATE	NA18953.hp2 NA18953.hp2	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0002 a0023c0036t0002	a0023c0036t0002g0283 a0023c0036t0002g0283	1	346	0.0029	c.394 others(4): Show c.3947C>G	p.Ala others(7): Show p.Ala1316Gly	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	32/39	4503/6008	3947/4632	1316/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69153850	C C	A A	missense_variant missense_variant	MODERATE	NA18953.hp2 NA18953.hp2	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0002 a0023c0036t0002	a0023c0036t0002g0283 a0023c0036t0002g0283	1	346	0.0029	c.394 others(4): Show c.3946G>T	p.Ala others(7): Show p.Ala1316Ser	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	32/39	4502/6008	3946/4632	1316/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69153982	C C	T T	missense_variant missense_variant	MODERATE	NA18953.hp2 NA18953.hp2	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0002 a0023c0036t0002	a0023c0036t0002g0283 a0023c0036t0002g0283	1	346	0.0029	c.381 others(4): Show c.3814G>A	p.Val others(7): Show p.Val1272Ile	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	32/39	4370/6008	3814/4632	1272/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69155824	G G	C C	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp1 HG01106.hp2 others(6): Show HG01069.hp1 HG01071.hp1 HG01106.hp2 HG02647.hp1 HG02717.hp2 HG02922.hp1 HG03471.hp1 NA19043.hp1 NA20129.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0007 a0007c0008t0004 a0007c0008t0007	a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 others(5): Show a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 a0007c0008t0007g0331 a0007c0008t0007g0332 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335	9	346	0.0260	c.355 others(4): Show c.3557C>G	p.Thr others(7): Show p.Thr1186Ser	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	29/39	4113/6008	3557/4632	1186/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69156852	C C	T T	missense_variant missense_variant	MODERATE	HG03942.hp2 HG03942.hp2	a0021 a0021	a0021c0027 a0021c0027	a0021c0027t0001 a0021c0027t0001	a0021c0027t0001g0229 a0021c0027t0001g0229	1	346	0.0029	c.343 others(4): Show c.3435G>A	p.Met others(7): Show p.Met1145Ile	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	28/39	3991/6008	3435/4632	1145/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69156910	C C	T T	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0001 a0019c0026t0001	a0019c0026t0001g0073 a0019c0026t0001g0073	1	346	0.0029	c.337 others(4): Show c.3377G>A	p.Ser others(7): Show p.Ser1126Asn	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	28/39	3933/6008	3377/4632	1126/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69174744	G G	C C	missense_variant missense_variant	MODERATE	NA18943.hp2 NA18960.hp2 NA18973.hp1 NA18943.hp2 NA18960.hp2 NA18973.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0008 a0011c0012t0008	a0011c0012t0008g0322 a0011c0012t0008g0323 a0011c0012t0008g0324 a0011c0012t0008g0322 a0011c0012t0008g0323 a0011c0012t0008g0324	3	346	0.0087	c.291 others(4): Show c.2911C>G	p.Leu others(6): Show p.Leu971Val	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	24/39	3467/6008	2911/4632	971/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69182175	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(236): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0002 a0003 a0004 others(15): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0026	a0002c0002 a0002c0015 a0003c0003 others(24): Show a0002c0002 a0002c0015 a0003c0003 a0003c0025 a0003c0028 a0004c0004 a0004c0006 a0005c0005 a0005c0013 a0005c0014 a0006c0007 a0006c0016 a0007c0008 a0008c0009 a0009c0010 a0010c0018 a0010c0022 a0014c0020 a0014c0021 a0015c0029 a0016c0037 a0017c0030 a0019c0026 a0020c0019 a0021c0027 a0022c0024 a0026c0023	a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 others(33): Show a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 a0003c0003t0001 a0003c0003t0005 a0003c0003t0016 a0003c0025t0001 a0003c0028t0006 a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 a0004c0006t0011 a0005c0005t0004 a0005c0005t0015 a0005c0013t0001 a0005c0014t0001 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004 a0007c0008t0004 a0007c0008t0007 a0008c0009t0009 a0009c0010t0006 a0010c0018t0001 a0010c0018t0002 a0010c0022t0012 a0014c0020t0006 a0014c0021t0006 a0015c0029t0014 a0016c0037t0007 a0017c0030t0001 a0019c0026t0001 a0020c0019t0001 a0021c0027t0001 a0022c0024t0001 a0026c0023t0001	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(229): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0184 a0002c0002t0001g0203 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0005g0008 a0002c0002t0005g0311 a0002c0002t0005g0312 a0002c0015t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0044 a0003c0003t0001g0055 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0074 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0106 a0003c0003t0001g0113 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0121 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0140 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0183 a0003c0003t0001g0199 a0003c0003t0001g0202 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0213 a0003c0003t0001g0250 a0003c0003t0001g0261 a0003c0003t0001g0301 a0003c0003t0001g0305 a0003c0003t0005g0308 a0003c0003t0005g0315 a0003c0003t0005g0316 a0003c0003t0005g0317 a0003c0003t0005g0318 a0003c0003t0005g0319 a0003c0003t0005g0320 a0003c0003t0005g0321 a0003c0003t0016g0307 a0003c0025t0001g0045 a0003c0028t0006g0249 a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 a0004c0004t0003g0108 a0004c0004t0003g0144 a0004c0004t0003g0194 a0004c0004t0003g0208 a0004c0004t0003g0209 a0004c0004t0003g0210 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0235 a0004c0004t0003g0236 a0004c0004t0003g0237 a0004c0004t0003g0238 a0004c0004t0003g0239 a0004c0004t0003g0240 a0004c0004t0003g0242 a0004c0004t0003g0243 a0004c0004t0003g0244 a0004c0004t0003g0248 a0004c0004t0003g0255 a0004c0004t0003g0256 a0004c0004t0003g0270 a0004c0004t0003g0271 a0004c0004t0003g0279 a0004c0004t0003g0303 a0004c0004t0011g0313 a0004c0006t0003g0036 a0004c0006t0003g0037 a0004c0006t0003g0047 a0004c0006t0003g0048 a0004c0006t0003g0053 a0004c0006t0003g0056 a0004c0006t0003g0057 a0004c0006t0003g0107 a0004c0006t0003g0124 a0004c0006t0003g0125 a0004c0006t0003g0155 a0004c0006t0003g0268 a0004c0006t0011g0327 a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0217 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0223 a0005c0005t0004g0241 a0005c0005t0004g0262 a0005c0005t0015g0218 a0005c0013t0001g0042 a0005c0013t0001g0052 a0005c0014t0001g0142 a0005c0014t0001g0224 a0006c0007t0004g0114 a0006c0007t0004g0186 a0006c0007t0004g0187 a0006c0007t0004g0189 a0006c0007t0004g0190 a0006c0007t0004g0192 a0006c0007t0004g0193 a0006c0007t0004g0196 a0006c0007t0010g0336 a0006c0007t0010g0337 a0006c0007t0010g0338 a0006c0016t0004g0188 a0006c0016t0004g0191 a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 a0007c0008t0007g0331 a0007c0008t0007g0332 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335 a0008c0009t0009g0005 a0008c0009t0009g0201 a0008c0009t0009g0227 a0008c0009t0009g0245 a0008c0009t0009g0246 a0009c0010t0006g0138 a0009c0010t0006g0143 a0009c0010t0006g0195 a0010c0018t0001g0105 a0010c0018t0002g0211 a0010c0022t0012g0139 a0014c0020t0006g0135 a0014c0021t0006g0304 a0015c0029t0014g0198 a0016c0037t0007g0328 a0017c0030t0001g0260 a0019c0026t0001g0073 a0020c0019t0001g0205 a0021c0027t0001g0229 a0022c0024t0001g0302 a0026c0023t0001g0212	239	346	0.6908	c.274 others(4): Show c.2747T>C	p.Met others(6): Show p.Met916Thr	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/39	3303/6008	2747/4632	916/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69182232	A A	G G	missense_variant missense_variant	MODERATE	HG04115.hp2 HG04115.hp2	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0001 a0022c0024t0001	a0022c0024t0001g0302 a0022c0024t0001g0302	1	346	0.0029	c.269 others(4): Show c.2690T>C	p.Met others(6): Show p.Met897Thr	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/39	3246/6008	2690/4632	897/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69182281	A A	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG03098.hp1 HG03516.hp2 HG01891.hp1 HG03098.hp1 HG03516.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0006 a0009c0010t0006	a0009c0010t0006g0138 a0009c0010t0006g0143 a0009c0010t0006g0195 a0009c0010t0006g0138 a0009c0010t0006g0143 a0009c0010t0006g0195	3	346	0.0087	c.264 others(4): Show c.2641T>A	p.Phe others(6): Show p.Phe881Ile	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/39	3197/6008	2641/4632	881/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69187705	C C	T T	missense_variant missense_variant	MODERATE	NA18969.hp2 NA18969.hp2	a0024 a0024	a0024c0033 a0024c0033	a0024c0033t0002 a0024c0033t0002	a0024c0033t0002g0164 a0024c0033t0002g0164	1	346	0.0029	c.230 others(4): Show c.2306G>A	p.Arg others(6): Show p.Arg769His	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	19/39	2862/6008	2306/4632	769/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69190364	C C	T T	missense_variant missense_variant	MODERATE	HG02083.hp2 NA19004.hp1 HG02083.hp2 NA19004.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0002 a0013c0017t0002	a0013c0017t0002g0273 a0013c0017t0002g0288 a0013c0017t0002g0273 a0013c0017t0002g0288	2	346	0.0058	c.212 others(4): Show c.2125G>A	p.Glu others(6): Show p.Glu709Lys	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	18/39	2681/6008	2125/4632	709/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69191199	A A	G G	missense_variant missense_variant	MODERATE	NA18943.hp2 NA18960.hp2 NA18973.hp1 NA18943.hp2 NA18960.hp2 NA18973.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0008 a0011c0012t0008	a0011c0012t0008g0322 a0011c0012t0008g0323 a0011c0012t0008g0324 a0011c0012t0008g0322 a0011c0012t0008g0323 a0011c0012t0008g0324	3	346	0.0087	c.198 others(4): Show c.1988T>C	p.Leu others(6): Show p.Leu663Ser	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	17/39	2544/6008	1988/4632	663/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69194478	A A	G G	missense_variant missense_variant	MODERATE	HG02451.hp1 HG03516.hp1 HG02451.hp1 HG03516.hp1	a0014 a0014	a0014c0020 a0014c0021 a0014c0020 a0014c0021	a0014c0020t0006 a0014c0021t0006 a0014c0020t0006 a0014c0021t0006	a0014c0020t0006g0135 a0014c0021t0006g0304 a0014c0020t0006g0135 a0014c0021t0006g0304	2	346	0.0058	c.125 others(4): Show c.1252T>C	p.Tyr others(6): Show p.Tyr418His	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	12/39	1808/6008	1252/4632	418/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69201542	A A	C C	missense_variant missense_variant	MODERATE	NA18983.hp2 NA18983.hp2	a0025 a0025	a0025c0032 a0025c0032	a0025c0032t0002 a0025c0032t0002	a0025c0032t0002g0170 a0025c0032t0002g0170	1	346	0.0029	c.113 others(4): Show c.1133T>G	p.Phe others(6): Show p.Phe378Cys	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	10/39	1689/6008	1133/4632	378/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69201560	T T	G G	missense_variant missense_variant	MODERATE	HG01346.hp2 HG02451.hp2 HG02572.hp1 others(4): Show HG01346.hp2 HG02451.hp2 HG02572.hp1 HG03098.hp2 HG03225.hp1 HG03579.hp1 HG06807.hp1	a0008 a0016 a0008 a0016	a0008c0009 a0016c0037 a0008c0009 a0016c0037	a0008c0009t0009 a0016c0037t0007 a0008c0009t0009 a0016c0037t0007	a0008c0009t0009g0005 a0008c0009t0009g0201 a0008c0009t0009g0227 others(3): Show a0008c0009t0009g0005 a0008c0009t0009g0201 a0008c0009t0009g0227 a0008c0009t0009g0245 a0008c0009t0009g0246 a0016c0037t0007g0328	7	346	0.0202	c.111 others(4): Show c.1115A>C	p.His others(6): Show p.His372Pro	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	10/39	1671/6008	1115/4632	372/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69214715	C C	T T	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0026 a0026	a0026c0023 a0026c0023	a0026c0023t0001 a0026c0023t0001	a0026c0023t0001g0212 a0026c0023t0001g0212	1	346	0.0029	c.995 others(3): Show c.995G>A	p.Arg others(6): Show p.Arg332Gln	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/39	1551/6008	995/4632	332/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69214851	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00323.hp2 HG00438.hp1 HG00438.hp2 others(80): Show HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00733.hp1 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01952.hp1 HG01978.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02148.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02698.hp1 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18942.hp2 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp2 NA18982.hp2 NA18988.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2	a0002 a0019 a0021 a0002 a0019 a0021	a0002c0002 a0002c0015 a0019c0026 others(1): Show a0002c0002 a0002c0015 a0019c0026 a0021c0027	a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 others(2): Show a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 a0019c0026t0001 a0021c0027t0001	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(76): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0184 a0002c0002t0001g0203 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0005g0008 a0002c0002t0005g0311 a0002c0002t0005g0312 a0002c0015t0001g0003 a0019c0026t0001g0073 a0021c0027t0001g0229	83	346	0.2399	c.859 others(3): Show c.859A>G	p.Ile others(6): Show p.Ile287Val	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/39	1415/6008	859/4632	287/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69215844	G G	T T	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0018 a0018	a0018c0031 a0018c0031	a0018c0031t0001 a0018c0031t0001	a0018c0031t0001g0072 a0018c0031t0001g0072	1	346	0.0029	c.829 others(3): Show c.829C>A	p.Pro others(6): Show p.Pro277Thr	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	8/39	1385/6008	829/4632	277/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69215982	T T	C C	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01243.hp1	a0015 a0015	a0015c0029 a0015c0029	a0015c0029t0014 a0015c0029t0014	a0015c0029t0014g0198 a0015c0029t0014g0198	1	346	0.0029	c.691 others(3): Show c.691A>G	p.Met others(6): Show p.Met231Val	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	8/39	1247/6008	691/4632	231/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69216249	A A	G G	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18988.hp2 NA19006.hp2 NA18948.hp2 NA18988.hp2 NA19006.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0002 a0012c0011t0002	a0012c0011t0002g0058 a0012c0011t0002g0080 a0012c0011t0002g0081 a0012c0011t0002g0058 a0012c0011t0002g0080 a0012c0011t0002g0081	3	346	0.0087	c.640 others(3): Show c.640T>C	p.Phe others(6): Show p.Phe214Leu	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	7/39	1196/6008	640/4632	214/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69216282	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(170): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18988.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0002 a0003 a0005 others(8): Show a0002 a0003 a0005 a0006 a0015 a0017 a0019 a0020 a0021 a0022 a0026	a0002c0002 a0002c0015 a0003c0003 others(14): Show a0002c0002 a0002c0015 a0003c0003 a0003c0025 a0003c0028 a0005c0005 a0005c0013 a0005c0014 a0006c0007 a0006c0016 a0015c0029 a0017c0030 a0019c0026 a0020c0019 a0021c0027 a0022c0024 a0026c0023	a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 others(19): Show a0002c0002t0001 a0002c0002t0005 a0002c0015t0001 a0003c0003t0001 a0003c0003t0005 a0003c0003t0016 a0003c0025t0001 a0003c0028t0006 a0005c0005t0004 a0005c0005t0015 a0005c0013t0001 a0005c0014t0001 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004 a0015c0029t0014 a0017c0030t0001 a0019c0026t0001 a0020c0019t0001 a0021c0027t0001 a0022c0024t0001 a0026c0023t0001	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(166): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0184 a0002c0002t0001g0203 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0005g0008 a0002c0002t0005g0311 a0002c0002t0005g0312 a0002c0015t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0044 a0003c0003t0001g0055 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0074 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0106 a0003c0003t0001g0113 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0121 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0140 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0183 a0003c0003t0001g0199 a0003c0003t0001g0202 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0213 a0003c0003t0001g0250 a0003c0003t0001g0261 a0003c0003t0001g0301 a0003c0003t0001g0305 a0003c0003t0005g0308 a0003c0003t0005g0315 a0003c0003t0005g0316 a0003c0003t0005g0317 a0003c0003t0005g0318 a0003c0003t0005g0319 a0003c0003t0005g0320 a0003c0003t0005g0321 a0003c0003t0016g0307 a0003c0025t0001g0045 a0003c0028t0006g0249 a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0217 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0223 a0005c0005t0004g0241 a0005c0005t0004g0262 a0005c0005t0015g0218 a0005c0013t0001g0042 a0005c0013t0001g0052 a0005c0014t0001g0142 a0005c0014t0001g0224 a0006c0007t0004g0114 a0006c0007t0004g0186 a0006c0007t0004g0187 a0006c0007t0004g0189 a0006c0007t0004g0190 a0006c0007t0004g0192 a0006c0007t0004g0193 a0006c0007t0004g0196 a0006c0007t0010g0336 a0006c0007t0010g0337 a0006c0007t0010g0338 a0006c0016t0004g0188 a0006c0016t0004g0191 a0015c0029t0014g0198 a0017c0030t0001g0260 a0019c0026t0001g0073 a0020c0019t0001g0205 a0021c0027t0001g0229 a0022c0024t0001g0302 a0026c0023t0001g0212	173	346	0.5000	c.607 others(3): Show c.607C>T	p.Pro others(6): Show p.Pro203Ser	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	7/39	1163/6008	607/4632	203/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69221842	G G	C C	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02572.hp1 HG03098.hp2 others(3): Show HG02451.hp2 HG02572.hp1 HG03098.hp2 HG03225.hp1 HG03579.hp1 HG06807.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0009 a0008c0009t0009	a0008c0009t0009g0005 a0008c0009t0009g0201 a0008c0009t0009g0227 others(2): Show a0008c0009t0009g0005 a0008c0009t0009g0201 a0008c0009t0009g0227 a0008c0009t0009g0245 a0008c0009t0009g0246	6	346	0.0173	c.253 others(3): Show c.253C>G	p.Leu others(5): Show p.Leu85Val	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	5/39	809/6008	253/4632	85/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69222685	A A	G G	missense_variant missense_variant	MODERATE	HG03688.hp2 HG03688.hp2	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0001 a0020c0019t0001	a0020c0019t0001g0205 a0020c0019t0001g0205	1	346	0.0029	c.47T others(2): Show c.47T>C	p.Ile others(5): Show p.Ile16Thr	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	4/39	603/6008	47/4632	16/1543	chr17	TogoVar
ABCA12_chr2_214926542_215143626	214934127	G G	A A	missense_variant missense_variant	MODERATE	HG03710.hp1 HG03710.hp1	a0018 a0018	a0018c0047 a0018c0047	a0018c0047t0001 a0018c0047t0001	a0018c0047t0001g0046 a0018c0047t0001g0046	1	196	0.0051	c.763 others(4): Show c.7631C>T	p.Thr others(7): Show p.Thr2544Ile	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	52/53	8049/9298	7631/7788	2544/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214948607	C C	T T	missense_variant missense_variant	MODERATE	HG03490.hp1 HG03669.hp2 HG03490.hp1 HG03669.hp2	a0015 a0017 a0015 a0017	a0015c0055 a0017c0049 a0015c0055 a0017c0049	a0015c0055t0010 a0017c0049t0001 a0015c0055t0010 a0017c0049t0001	a0015c0055t0010g0184 a0017c0049t0001g0068 a0015c0055t0010g0184 a0017c0049t0001g0068	2	196	0.0102	c.709 others(4): Show c.7093G>A	p.Asp others(7): Show p.Asp2365Asn	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	47/53	7511/9298	7093/7788	2365/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214951083	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01255.hp2 HG01943.hp1 HG01993.hp2 HG01255.hp2 HG01943.hp1 HG01993.hp2	a0005 a0005	a0005c0024 a0005c0034 a0005c0024 a0005c0034	a0005c0024t0005 a0005c0034t0005 a0005c0024t0005 a0005c0034t0005	a0005c0024t0005g0093 a0005c0024t0005g0094 a0005c0034t0005g0169 a0005c0024t0005g0093 a0005c0024t0005g0094 a0005c0034t0005g0169	3	196	0.0153	c.664 others(4): Show c.6648G>T	p.Arg others(7): Show p.Arg2216Ser	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	45/53	7066/9298	6648/7788	2216/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214958415	G G	C C	missense_variant missense_variant	MODERATE	HG02622.hp2 NA19240.hp2 NA20129.hp1 HG02622.hp2 NA19240.hp2 NA20129.hp1	a0009 a0014 a0009 a0014	a0009c0028 a0014c0048 a0009c0028 a0014c0048	a0009c0028t0003 a0014c0048t0003 a0009c0028t0003 a0014c0048t0003	a0009c0028t0003g0081 a0009c0028t0003g0083 a0014c0048t0003g0052 a0009c0028t0003g0081 a0009c0028t0003g0083 a0014c0048t0003g0052	3	196	0.0153	c.597 others(4): Show c.5979C>G	p.Ile others(7): Show p.Ile1993Met	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	41/53	6397/9298	5979/7788	1993/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214978346	C C	G G	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00423.hp1	a0010 a0010	a0010c0046 a0010c0046	a0010c0046t0002 a0010c0046t0002	a0010c0046t0002g0162 a0010c0046t0002g0162	1	196	0.0051	c.509 others(4): Show c.5098G>C	p.Val others(7): Show p.Val1700Leu	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	33/53	5516/9298	5098/7788	1700/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214978874	C C	T T	missense_variant missense_variant	MODERATE	NA18971.hp1 NA18971.hp1	a0019 a0019	a0019c0038 a0019c0038	a0019c0038t0008 a0019c0038t0008	a0019c0038t0008g0195 a0019c0038t0008g0195	1	196	0.0051	c.490 others(4): Show c.4907G>A	p.Arg others(7): Show p.Arg1636Gln	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	32/53	5325/9298	4907/7788	1636/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214983804	T T	C C	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0011 a0011	a0011c0036 a0011c0036	a0011c0036t0001 a0011c0036t0001	a0011c0036t0001g0084 a0011c0036t0001g0084	1	196	0.0051	c.422 others(4): Show c.4225A>G	p.Ile others(7): Show p.Ile1409Val	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	29/53	4643/9298	4225/7788	1409/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	214990845	T T	A A	missense_variant missense_variant	MODERATE	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0003 a0008c0026t0003	a0008c0026t0003g0053 a0008c0026t0003g0056 a0008c0026t0003g0053 a0008c0026t0003g0056	2	196	0.0102	c.348 others(4): Show c.3481A>T	p.Met others(7): Show p.Met1161Leu	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	24/53	3899/9298	3481/7788	1161/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215000938	T T	G G	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0016 a0016	a0016c0037 a0016c0037	a0016c0037t0004 a0016c0037t0004	a0016c0037t0004g0023 a0016c0037t0004g0023	1	196	0.0051	c.294 others(4): Show c.2946A>C	p.Lys others(6): Show p.Lys982Asn	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	22/53	3364/9298	2946/7788	982/2595	chr2	TogoVar

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