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
ABCA4_chr1_93987834_94126148	94047046	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 NA19030.hp1 HG02896.hp1 NA19030.hp1	a0039 a0048 a0039 a0048	a0039c0086 a0048c0087 a0039c0086 a0048c0087	a0039c0086t0001 a0048c0087t0001 a0039c0086t0001 a0048c0087t0001	a0039c0086t0001g0128 a0048c0087t0001g0189 a0039c0086t0001g0128 a0048c0087t0001g0189	2	304	0.0066	c.279 others(4): Show c.2791G>A	p.Val others(6): Show p.Val931Met	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	19/50	2894/7328	2791/6822	931/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94048921	G G	A A	missense_variant missense_variant	MODERATE	HG00733.hp2 HG00733.hp2	a0024 a0024	a0024c0074 a0024c0074	a0024c0074t0002 a0024c0074t0002	a0024c0074t0002g0246 a0024c0074t0002g0246	1	304	0.0033	c.269 others(4): Show c.2690C>T	p.Thr others(6): Show p.Thr897Ile	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	18/50	2793/7328	2690/6822	897/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94062587	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02280.hp1 HG02258.hp1 HG02280.hp1	a0017 a0017	a0017c0050 a0017c0051 a0017c0050 a0017c0051	a0017c0050t0001 a0017c0051t0002 a0017c0050t0001 a0017c0051t0002	a0017c0050t0001g0009 a0017c0051t0002g0010 a0017c0050t0001g0009 a0017c0051t0002g0010	2	304	0.0066	c.192 others(4): Show c.1927G>A	p.Val others(6): Show p.Val643Met	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	13/50	2030/7328	1927/6822	643/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94063157	C C	T T	missense_variant missense_variant	MODERATE	HG04228.hp2 HG04228.hp2	a0045 a0045	a0045c0049 a0045c0049	a0045c0049t0001 a0045c0049t0001	a0045c0049t0001g0260 a0045c0049t0001g0260	1	304	0.0033	c.171 others(4): Show c.1715G>A	p.Arg others(6): Show p.Arg572Gln	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	12/50	1818/7328	1715/6822	572/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94063218	C C	T T	missense_variant missense_variant	MODERATE	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0019 a0019	a0019c0025 a0019c0025	a0019c0025t0001 a0019c0025t0001	a0019c0025t0001g0001 a0019c0025t0001g0001	2	304	0.0066	c.165 others(4): Show c.1654G>A	p.Val others(6): Show p.Val552Ile	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	12/50	1757/7328	1654/6822	552/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94078678	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00408.hp1 HG00544.hp2 others(70): Show HG00140.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00735.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02080.hp1 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18947.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18970.hp2 NA18979.hp1 NA18985.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp2 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19030.hp1 NA19056.hp2 NA19065.hp1 NA19066.hp1 NA19089.hp1	a0002 a0005 a0013 others(17): Show a0002 a0005 a0013 a0014 a0015 a0016 a0019 a0023 a0026 a0027 a0028 a0029 a0031 a0032 a0033 a0034 a0036 a0039 a0046 a0048	a0002c0002 a0002c0010 a0002c0028 others(28): Show a0002c0002 a0002c0010 a0002c0028 a0002c0029 a0002c0094 a0002c0095 a0002c0098 a0005c0026 a0005c0027 a0005c0034 a0005c0097 a0013c0016 a0014c0030 a0015c0047 a0015c0048 a0016c0089 a0016c0090 a0019c0025 a0023c0109 a0026c0099 a0027c0093 a0028c0088 a0029c0091 a0031c0100 a0032c0096 a0033c0102 a0034c0092 a0036c0101 a0039c0086 a0046c0105 a0048c0087	a0002c0002t0001 a0002c0010t0001 a0002c0028t0001 others(28): Show a0002c0002t0001 a0002c0010t0001 a0002c0028t0001 a0002c0029t0001 a0002c0094t0001 a0002c0095t0001 a0002c0098t0001 a0005c0026t0001 a0005c0027t0002 a0005c0034t0002 a0005c0097t0002 a0013c0016t0001 a0014c0030t0001 a0015c0047t0001 a0015c0048t0001 a0016c0089t0001 a0016c0090t0003 a0019c0025t0001 a0023c0109t0001 a0026c0099t0001 a0027c0093t0001 a0028c0088t0001 a0029c0091t0001 a0031c0100t0001 a0032c0096t0001 a0033c0102t0001 a0034c0092t0004 a0036c0101t0001 a0039c0086t0001 a0046c0105t0001 a0048c0087t0001	a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0017 others(67): Show a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0017 a0002c0002t0001g0024 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0104 a0002c0002t0001g0113 a0002c0002t0001g0117 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0190 a0002c0002t0001g0208 a0002c0002t0001g0218 a0002c0002t0001g0236 a0002c0002t0001g0286 a0002c0010t0001g0095 a0002c0010t0001g0097 a0002c0010t0001g0119 a0002c0010t0001g0162 a0002c0028t0001g0025 a0002c0028t0001g0028 a0002c0029t0001g0262 a0002c0029t0001g0263 a0002c0094t0001g0091 a0002c0095t0001g0163 a0002c0098t0001g0288 a0005c0026t0001g0298 a0005c0026t0001g0299 a0005c0027t0002g0020 a0005c0027t0002g0078 a0005c0034t0002g0132 a0005c0097t0002g0093 a0013c0016t0001g0023 a0013c0016t0001g0171 a0014c0030t0001g0004 a0015c0047t0001g0089 a0015c0048t0001g0022 a0016c0089t0001g0296 a0016c0090t0003g0031 a0019c0025t0001g0001 a0023c0109t0001g0243 a0026c0099t0001g0249 a0027c0093t0001g0014 a0028c0088t0001g0015 a0029c0091t0001g0248 a0031c0100t0001g0290 a0032c0096t0001g0081 a0033c0102t0001g0012 a0034c0092t0004g0165 a0036c0101t0001g0011 a0039c0086t0001g0128 a0046c0105t0001g0121 a0048c0087t0001g0189	73	304	0.2401	c.126 others(4): Show c.1268A>G	p.His others(6): Show p.His423Arg	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	10/50	1371/7328	1268/6822	423/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94083372	T T	A A	missense_variant missense_variant	MODERATE	HG01928.hp1 HG02818.hp1 HG01928.hp1 HG02818.hp1	a0031 a0036 a0031 a0036	a0031c0100 a0036c0101 a0031c0100 a0036c0101	a0031c0100t0001 a0036c0101t0001 a0031c0100t0001 a0036c0101t0001	a0031c0100t0001g0290 a0036c0101t0001g0011 a0031c0100t0001g0290 a0036c0101t0001g0011	2	304	0.0066	c.838 others(3): Show c.838A>T	p.Met others(6): Show p.Met280Leu	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	7/50	941/7328	838/6822	280/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94098885	C C	A A	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02486.hp2	a0033 a0033	a0033c0102 a0033c0102	a0033c0102t0001 a0033c0102t0001	a0033c0102t0001g0012 a0033c0102t0001g0012	1	304	0.0033	c.677 others(3): Show c.677G>T	p.Arg others(6): Show p.Arg226Leu	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	6/50	780/7328	677/6822	226/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94098895	T T	G G	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0051 a0051	a0051c0103 a0051c0103	a0051c0103t0001 a0051c0103t0001	a0051c0103t0001g0046 a0051c0103t0001g0046	1	304	0.0033	c.667 others(3): Show c.667A>C	p.Lys others(6): Show p.Lys223Gln	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	6/50	770/7328	667/6822	223/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94098927	C C	T T	missense_variant missense_variant	MODERATE	HG01243.hp2 HG01943.hp1 HG02148.hp1 others(15): Show HG01243.hp2 HG01943.hp1 HG02148.hp1 HG02280.hp2 HG02559.hp2 HG02886.hp2 HG02896.hp2 HG02970.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03540.hp2 NA18953.hp1 NA18962.hp2 NA19063.hp2 NA19079.hp1 NA19084.hp2 NA19240.hp1	a0004 a0007 a0013 others(2): Show a0004 a0007 a0013 a0015 a0043	a0004c0011 a0004c0035 a0004c0039 others(12): Show a0004c0011 a0004c0035 a0004c0039 a0004c0044 a0004c0046 a0007c0037 a0007c0040 a0007c0041 a0007c0042 a0007c0043 a0007c0045 a0013c0016 a0015c0047 a0015c0048 a0043c0036	a0004c0011t0002 a0004c0035t0002 a0004c0039t0001 others(12): Show a0004c0011t0002 a0004c0035t0002 a0004c0039t0001 a0004c0044t0002 a0004c0046t0001 a0007c0037t0001 a0007c0040t0001 a0007c0041t0001 a0007c0042t0001 a0007c0043t0001 a0007c0045t0001 a0013c0016t0001 a0015c0047t0001 a0015c0048t0001 a0043c0036t0003	a0004c0011t0002g0111 a0004c0011t0002g0123 a0004c0011t0002g0124 others(15): Show a0004c0011t0002g0111 a0004c0011t0002g0123 a0004c0011t0002g0124 a0004c0035t0002g0051 a0004c0039t0001g0115 a0004c0044t0002g0205 a0004c0046t0001g0112 a0007c0037t0001g0049 a0007c0040t0001g0122 a0007c0041t0001g0019 a0007c0042t0001g0109 a0007c0043t0001g0207 a0007c0045t0001g0206 a0013c0016t0001g0023 a0013c0016t0001g0171 a0015c0047t0001g0089 a0015c0048t0001g0022 a0043c0036t0003g0050	18	304	0.0592	c.635 others(3): Show c.635G>A	p.Arg others(6): Show p.Arg212His	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	6/50	738/7328	635/6822	212/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94098944	G G	C C	missense_variant missense_variant	MODERATE	HG03139.hp2 NA18906.hp1 HG03139.hp2 NA18906.hp1	a0042 a0046 a0042 a0046	a0042c0104 a0046c0105 a0042c0104 a0046c0105	a0042c0104t0001 a0046c0105t0001 a0042c0104t0001 a0046c0105t0001	a0042c0104t0001g0130 a0046c0105t0001g0121 a0042c0104t0001g0130 a0046c0105t0001g0121	2	302	0.0066	c.618 others(3): Show c.618C>G	p.Ser others(6): Show p.Ser206Arg	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	6/50	721/7328	618/6822	206/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94098987	G G	A A	missense_variant missense_variant	MODERATE	NA19066.hp2 NA19066.hp2	a0049 a0049	a0049c0106 a0049c0106	a0049c0106t0001 a0049c0106t0001	a0049c0106t0001g0202 a0049c0106t0001g0202	1	304	0.0033	c.575 others(3): Show c.575C>T	p.Ala others(6): Show p.Ala192Val	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	6/50	678/7328	575/6822	192/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94098988	C C	T T	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02895.hp2	a0038 a0038	a0038c0038 a0038c0038	a0038c0038t0001 a0038c0038t0001	a0038c0038t0001g0195 a0038c0038t0001g0195	1	304	0.0033	c.574 others(3): Show c.574G>A	p.Ala others(6): Show p.Ala192Thr	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	6/50	677/7328	574/6822	192/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94103119	T T	C C	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01516.hp1 HG01517.hp1 HG00642.hp2 HG01516.hp1 HG01517.hp1	a0014 a0023 a0014 a0023	a0014c0030 a0023c0109 a0014c0030 a0023c0109	a0014c0030t0001 a0023c0109t0001 a0014c0030t0001 a0023c0109t0001	a0014c0030t0001g0004 a0023c0109t0001g0243 a0014c0030t0001g0004 a0023c0109t0001g0243	3	304	0.0099	c.466 others(3): Show c.466A>G	p.Ile others(6): Show p.Ile156Val	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	5/50	569/7328	466/6822	156/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94120994	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0022 a0022	a0022c0110 a0022c0110	a0022c0110t0001 a0022c0110t0001	a0022c0110t0001g0300 a0022c0110t0001g0300	1	304	0.0033	c.52C others(2): Show c.52C>T	p.Arg others(5): Show p.Arg18Trp	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/50	155/7328	52/6822	18/2273	chr1	TogoVar
ABCA5_chr17_69239311_69332133	69249909	T T	G G	missense_variant missense_variant	MODERATE	NA18977.hp2 NA18977.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0147 a0013c0018t0001g0147	1	348	0.0029	c.476 others(4): Show c.4761A>C	p.Glu others(7): Show p.Glu1587Asp	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	37/39	4858/8252	4761/4929	1587/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69254325	C C	T T	missense_variant missense_variant	MODERATE	NA19076.hp1 NA19076.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0002 a0015c0019t0002	a0015c0019t0002g0251 a0015c0019t0002g0251	1	348	0.0029	c.423 others(4): Show c.4234G>A	p.Val others(7): Show p.Val1412Ile	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	32/39	4331/8252	4234/4929	1412/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69256272	G G	A A	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0004 a0011c0020t0004	a0011c0020t0004g0179 a0011c0020t0004g0179	1	348	0.0029	c.374 others(4): Show c.3743C>T	p.Thr others(7): Show p.Thr1248Met	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	29/39	3840/8252	3743/4929	1248/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69271176	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(177): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02735.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19089.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0006 others(8): Show a0002 a0003 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0015 a0016	a0002c0001 a0002c0016 a0003c0003 others(9): Show a0002c0001 a0002c0016 a0003c0003 a0006c0009 a0007c0011 a0008c0012 a0009c0025 a0010c0014 a0011c0020 a0014c0023 a0015c0019 a0016c0021	a0002c0001t0002 a0002c0001t0004 a0002c0001t0008 others(23): Show a0002c0001t0002 a0002c0001t0004 a0002c0001t0008 a0002c0001t0009 a0002c0001t0011 a0002c0001t0022 a0002c0001t0024 a0002c0001t0025 a0002c0001t0031 a0002c0001t0032 a0002c0016t0004 a0003c0003t0003 a0003c0003t0015 a0003c0003t0021 a0006c0009t0003 a0006c0009t0008 a0006c0009t0028 a0007c0011t0002 a0008c0012t0002 a0008c0012t0023 a0009c0025t0002 a0010c0014t0002 a0011c0020t0004 a0014c0023t0002 a0015c0019t0002 a0016c0021t0002	a0002c0001t0002g0014 a0002c0001t0002g0015 a0002c0001t0002g0210 others(174): Show a0002c0001t0002g0014 a0002c0001t0002g0015 a0002c0001t0002g0210 a0002c0001t0002g0212 a0002c0001t0002g0213 a0002c0001t0002g0215 a0002c0001t0002g0216 a0002c0001t0002g0217 a0002c0001t0002g0222 a0002c0001t0002g0224 a0002c0001t0002g0225 a0002c0001t0002g0226 a0002c0001t0002g0227 a0002c0001t0002g0228 a0002c0001t0002g0229 a0002c0001t0002g0230 a0002c0001t0002g0231 a0002c0001t0002g0232 a0002c0001t0002g0233 a0002c0001t0002g0234 a0002c0001t0002g0235 a0002c0001t0002g0236 a0002c0001t0002g0237 a0002c0001t0002g0239 a0002c0001t0002g0240 a0002c0001t0002g0241 a0002c0001t0002g0242 a0002c0001t0002g0243 a0002c0001t0002g0244 a0002c0001t0002g0245 a0002c0001t0002g0246 a0002c0001t0002g0248 a0002c0001t0002g0249 a0002c0001t0002g0250 a0002c0001t0002g0252 a0002c0001t0002g0253 a0002c0001t0002g0254 a0002c0001t0002g0255 a0002c0001t0002g0257 a0002c0001t0002g0260 a0002c0001t0002g0261 a0002c0001t0002g0262 a0002c0001t0002g0263 a0002c0001t0002g0264 a0002c0001t0002g0265 a0002c0001t0002g0267 a0002c0001t0002g0269 a0002c0001t0002g0272 a0002c0001t0002g0273 a0002c0001t0002g0274 a0002c0001t0002g0275 a0002c0001t0002g0276 a0002c0001t0002g0277 a0002c0001t0002g0278 a0002c0001t0002g0279 a0002c0001t0002g0280 a0002c0001t0002g0281 a0002c0001t0002g0283 a0002c0001t0002g0284 a0002c0001t0002g0285 a0002c0001t0002g0286 a0002c0001t0002g0288 a0002c0001t0002g0290 a0002c0001t0002g0291 a0002c0001t0002g0292 a0002c0001t0002g0293 a0002c0001t0002g0295 a0002c0001t0002g0298 a0002c0001t0002g0299 a0002c0001t0002g0300 a0002c0001t0002g0301 a0002c0001t0002g0302 a0002c0001t0002g0303 a0002c0001t0002g0304 a0002c0001t0002g0305 a0002c0001t0002g0306 a0002c0001t0002g0307 a0002c0001t0002g0309 a0002c0001t0002g0310 a0002c0001t0002g0311 a0002c0001t0002g0313 a0002c0001t0002g0317 a0002c0001t0002g0318 a0002c0001t0004g0004 a0002c0001t0004g0167 a0002c0001t0004g0168 a0002c0001t0004g0169 a0002c0001t0004g0170 a0002c0001t0004g0171 a0002c0001t0004g0172 a0002c0001t0004g0173 a0002c0001t0004g0174 a0002c0001t0004g0175 a0002c0001t0004g0176 a0002c0001t0004g0177 a0002c0001t0004g0181 a0002c0001t0004g0182 a0002c0001t0004g0183 a0002c0001t0004g0184 a0002c0001t0004g0186 a0002c0001t0004g0188 a0002c0001t0004g0189 a0002c0001t0004g0190 a0002c0001t0004g0191 a0002c0001t0004g0315 a0002c0001t0004g0316 a0002c0001t0008g0180 a0002c0001t0009g0238 a0002c0001t0009g0258 a0002c0001t0009g0266 a0002c0001t0009g0308 a0002c0001t0011g0247 a0002c0001t0011g0296 a0002c0001t0011g0297 a0002c0001t0022g0187 a0002c0001t0024g0287 a0002c0001t0025g0223 a0002c0001t0031g0312 a0002c0001t0032g0346 a0002c0016t0004g0178 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0016 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0043 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0192 a0003c0003t0015g0152 a0003c0003t0015g0153 a0003c0003t0021g0030 a0006c0009t0003g0218 a0006c0009t0003g0219 a0006c0009t0003g0220 a0006c0009t0008g0162 a0006c0009t0008g0163 a0006c0009t0028g0221 a0007c0011t0002g0268 a0007c0011t0002g0270 a0007c0011t0002g0271 a0008c0012t0002g0259 a0008c0012t0023g0289 a0009c0025t0002g0294 a0010c0014t0002g0256 a0011c0020t0004g0179 a0014c0023t0002g0282 a0015c0019t0002g0251 a0016c0021t0002g0161	180	348	0.5172	c.287 others(4): Show c.2878A>G	p.Met others(6): Show p.Met960Val	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	21/39	2975/8252	2878/4929	960/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69274111	A A	G G	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18972.hp2 NA19060.hp1 NA18952.hp1 NA18972.hp2 NA19060.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0268 a0007c0011t0002g0270 a0007c0011t0002g0271 a0007c0011t0002g0268 a0007c0011t0002g0270 a0007c0011t0002g0271	3	348	0.0086	c.261 others(4): Show c.2612T>C	p.Ile others(6): Show p.Ile871Thr	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	20/39	2709/8252	2612/4929	871/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69277741	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0005 others(9): Show a0001 a0002 a0005 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0002 a0001c0004 a0001c0006 others(18): Show a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0013 a0001c0017 a0001c0022 a0001c0024 a0002c0001 a0002c0016 a0005c0007 a0007c0011 a0009c0025 a0010c0014 a0011c0020 a0012c0015 a0013c0018 a0014c0023 a0015c0019 a0016c0021	a0001c0002t0001 a0001c0002t0012 a0001c0002t0013 others(39): Show a0001c0002t0001 a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0004t0003 a0001c0004t0005 a0001c0004t0008 a0001c0004t0014 a0001c0004t0017 a0001c0004t0026 a0001c0004t0027 a0001c0006t0001 a0001c0006t0007 a0001c0006t0018 a0001c0008t0001 a0001c0008t0019 a0001c0010t0010 a0001c0013t0002 a0001c0017t0001 a0001c0022t0003 a0001c0024t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0008 a0002c0001t0009 a0002c0001t0011 a0002c0001t0022 a0002c0001t0024 a0002c0001t0025 a0002c0001t0031 a0002c0001t0032 a0002c0016t0004 a0005c0007t0006 a0007c0011t0002 a0009c0025t0002 a0010c0014t0002 a0011c0020t0004 a0012c0015t0001 a0013c0018t0001 a0014c0023t0002 a0015c0019t0002 a0016c0021t0002	a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(276): Show a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0214 a0001c0002t0012g0011 a0001c0002t0012g0012 a0001c0002t0012g0013 a0001c0002t0013g0051 a0001c0002t0013g0085 a0001c0002t0020g0122 a0001c0004t0003g0165 a0001c0004t0003g0330 a0001c0004t0003g0335 a0001c0004t0003g0336 a0001c0004t0003g0337 a0001c0004t0005g0017 a0001c0004t0005g0323 a0001c0004t0005g0324 a0001c0004t0005g0325 a0001c0004t0005g0326 a0001c0004t0005g0327 a0001c0004t0005g0328 a0001c0004t0005g0329 a0001c0004t0008g0166 a0001c0004t0014g0320 a0001c0004t0014g0321 a0001c0004t0017g0322 a0001c0004t0026g0164 a0001c0004t0027g0319 a0001c0006t0001g0104 a0001c0006t0001g0105 a0001c0006t0001g0106 a0001c0006t0001g0110 a0001c0006t0007g0053 a0001c0006t0007g0107 a0001c0006t0007g0108 a0001c0006t0007g0109 a0001c0006t0018g0093 a0001c0008t0001g0048 a0001c0008t0001g0049 a0001c0008t0001g0050 a0001c0008t0001g0052 a0001c0008t0001g0084 a0001c0008t0001g0095 a0001c0008t0019g0091 a0001c0010t0010g0331 a0001c0010t0010g0332 a0001c0010t0010g0333 a0001c0010t0010g0334 a0001c0013t0002g0055 a0001c0017t0001g0158 a0001c0022t0003g0314 a0001c0024t0001g0144 a0002c0001t0002g0014 a0002c0001t0002g0015 a0002c0001t0002g0210 a0002c0001t0002g0212 a0002c0001t0002g0213 a0002c0001t0002g0215 a0002c0001t0002g0216 a0002c0001t0002g0217 a0002c0001t0002g0222 a0002c0001t0002g0224 a0002c0001t0002g0225 a0002c0001t0002g0226 a0002c0001t0002g0227 a0002c0001t0002g0228 a0002c0001t0002g0229 a0002c0001t0002g0230 a0002c0001t0002g0231 a0002c0001t0002g0232 a0002c0001t0002g0233 a0002c0001t0002g0234 a0002c0001t0002g0235 a0002c0001t0002g0236 a0002c0001t0002g0237 a0002c0001t0002g0239 a0002c0001t0002g0240 a0002c0001t0002g0241 a0002c0001t0002g0242 a0002c0001t0002g0243 a0002c0001t0002g0244 a0002c0001t0002g0245 a0002c0001t0002g0246 a0002c0001t0002g0248 a0002c0001t0002g0249 a0002c0001t0002g0250 a0002c0001t0002g0252 a0002c0001t0002g0253 a0002c0001t0002g0254 a0002c0001t0002g0255 a0002c0001t0002g0257 a0002c0001t0002g0260 a0002c0001t0002g0261 a0002c0001t0002g0262 a0002c0001t0002g0263 a0002c0001t0002g0264 a0002c0001t0002g0265 a0002c0001t0002g0267 a0002c0001t0002g0269 a0002c0001t0002g0272 a0002c0001t0002g0273 a0002c0001t0002g0274 a0002c0001t0002g0275 a0002c0001t0002g0276 a0002c0001t0002g0277 a0002c0001t0002g0278 a0002c0001t0002g0279 a0002c0001t0002g0280 a0002c0001t0002g0281 a0002c0001t0002g0283 a0002c0001t0002g0284 a0002c0001t0002g0285 a0002c0001t0002g0286 a0002c0001t0002g0288 a0002c0001t0002g0290 a0002c0001t0002g0291 a0002c0001t0002g0292 a0002c0001t0002g0293 a0002c0001t0002g0295 a0002c0001t0002g0298 a0002c0001t0002g0299 a0002c0001t0002g0300 a0002c0001t0002g0301 a0002c0001t0002g0302 a0002c0001t0002g0303 a0002c0001t0002g0304 a0002c0001t0002g0305 a0002c0001t0002g0306 a0002c0001t0002g0307 a0002c0001t0002g0309 a0002c0001t0002g0310 a0002c0001t0002g0311 a0002c0001t0002g0313 a0002c0001t0002g0317 a0002c0001t0002g0318 a0002c0001t0004g0004 a0002c0001t0004g0167 a0002c0001t0004g0168 a0002c0001t0004g0169 a0002c0001t0004g0170 a0002c0001t0004g0171 a0002c0001t0004g0172 a0002c0001t0004g0173 a0002c0001t0004g0174 a0002c0001t0004g0175 a0002c0001t0004g0176 a0002c0001t0004g0177 a0002c0001t0004g0181 a0002c0001t0004g0182 a0002c0001t0004g0183 a0002c0001t0004g0184 a0002c0001t0004g0186 a0002c0001t0004g0188 a0002c0001t0004g0189 a0002c0001t0004g0190 a0002c0001t0004g0191 a0002c0001t0004g0315 a0002c0001t0004g0316 a0002c0001t0008g0180 a0002c0001t0009g0238 a0002c0001t0009g0258 a0002c0001t0009g0266 a0002c0001t0009g0308 a0002c0001t0011g0247 a0002c0001t0011g0296 a0002c0001t0011g0297 a0002c0001t0022g0187 a0002c0001t0024g0287 a0002c0001t0025g0223 a0002c0001t0031g0312 a0002c0001t0032g0346 a0002c0016t0004g0178 a0005c0007t0006g0338 a0005c0007t0006g0339 a0005c0007t0006g0340 a0005c0007t0006g0341 a0005c0007t0006g0342 a0005c0007t0006g0343 a0005c0007t0006g0344 a0005c0007t0006g0345 a0007c0011t0002g0268 a0007c0011t0002g0270 a0007c0011t0002g0271 a0009c0025t0002g0294 a0010c0014t0002g0256 a0011c0020t0004g0179 a0012c0015t0001g0071 a0013c0018t0001g0147 a0014c0023t0002g0282 a0015c0019t0002g0251 a0016c0021t0002g0161	281	348	0.8075	c.249 others(4): Show c.2494G>T	p.Ala others(6): Show p.Ala832Ser	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	19/39	2591/8252	2494/4929	832/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69284043	T T	C C	missense_variant missense_variant	MODERATE	HG01069.hp2 HG01071.hp2 HG01106.hp1 others(5): Show HG01069.hp2 HG01071.hp2 HG01106.hp1 HG02647.hp2 HG02717.hp2 HG03209.hp1 HG03471.hp1 NA20129.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0338 a0005c0007t0006g0339 a0005c0007t0006g0340 others(5): Show a0005c0007t0006g0338 a0005c0007t0006g0339 a0005c0007t0006g0340 a0005c0007t0006g0341 a0005c0007t0006g0342 a0005c0007t0006g0343 a0005c0007t0006g0344 a0005c0007t0006g0345	8	348	0.0230	c.230 others(4): Show c.2302A>G	p.Asn others(6): Show p.Asn768Asp	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	18/39	2399/8252	2302/4929	768/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69294699	T T	C C	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00609.hp1 HG00642.hp1 others(46): Show HG00280.hp2 HG00609.hp1 HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01433.hp1 HG01516.hp2 HG01928.hp2 HG01934.hp1 HG02055.hp2 HG02071.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03688.hp2 HG03942.hp2 HG04184.hp2 NA18612.hp2 NA18955.hp1 NA18975.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19084.hp1 NA19084.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0003 a0006 a0016 a0003 a0006 a0016	a0003c0003 a0006c0009 a0016c0021 a0003c0003 a0006c0009 a0016c0021	a0003c0003t0003 a0003c0003t0015 a0003c0003t0021 others(4): Show a0003c0003t0003 a0003c0003t0015 a0003c0003t0021 a0006c0009t0003 a0006c0009t0008 a0006c0009t0028 a0016c0021t0002	a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0005 others(44): Show a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0016 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0043 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0192 a0003c0003t0015g0152 a0003c0003t0015g0153 a0003c0003t0021g0030 a0006c0009t0003g0218 a0006c0009t0003g0219 a0006c0009t0003g0220 a0006c0009t0008g0162 a0006c0009t0008g0163 a0006c0009t0028g0221 a0016c0021t0002g0161	49	348	0.1408	c.145 others(4): Show c.1451A>G	p.Gln others(6): Show p.Gln484Arg	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	11/39	1548/8252	1451/4929	484/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69297222	A A	C C	missense_variant missense_variant	MODERATE	HG01069.hp2 HG01071.hp2 HG01106.hp1 others(5): Show HG01069.hp2 HG01071.hp2 HG01106.hp1 HG02647.hp2 HG02717.hp2 HG03209.hp1 HG03471.hp1 NA20129.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0338 a0005c0007t0006g0339 a0005c0007t0006g0340 others(5): Show a0005c0007t0006g0338 a0005c0007t0006g0339 a0005c0007t0006g0340 a0005c0007t0006g0341 a0005c0007t0006g0342 a0005c0007t0006g0343 a0005c0007t0006g0344 a0005c0007t0006g0345	8	348	0.0230	c.140 others(4): Show c.1405T>G	p.Ser others(6): Show p.Ser469Ala	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	10/39	1502/8252	1405/4929	469/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69297284	T T	C C	missense_variant missense_variant	MODERATE	NA18999.hp1 NA18999.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0002 a0014c0023t0002	a0014c0023t0002g0282 a0014c0023t0002g0282	1	348	0.0029	c.134 others(4): Show c.1343A>G	p.Glu others(6): Show p.Glu448Gly	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	10/39	1440/8252	1343/4929	448/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69302876	A A	G G	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00408.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0002 a0009c0025t0002	a0009c0025t0002g0294 a0009c0025t0002g0294	1	348	0.0029	c.961 others(3): Show c.961T>C	p.Phe others(6): Show p.Phe321Leu	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	8/39	1058/8252	961/4929	321/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69306869	G G	T T	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18948.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0071 a0012c0015t0001g0071	1	348	0.0029	c.644 others(3): Show c.644C>A	p.Thr others(6): Show p.Thr215Asn	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	6/39	741/8252	644/4929	215/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69308306	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00609.hp1 HG00642.hp1 others(39): Show HG00280.hp2 HG00609.hp1 HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01433.hp1 HG01516.hp2 HG01928.hp2 HG01934.hp1 HG02055.hp2 HG02071.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03688.hp2 HG03942.hp2 HG04184.hp2 NA18612.hp2 NA18955.hp1 NA18975.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19084.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0015 a0003c0003t0021 a0003c0003t0003 a0003c0003t0015 a0003c0003t0021	a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0005 others(37): Show a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0016 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0043 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0192 a0003c0003t0015g0152 a0003c0003t0015g0153 a0003c0003t0021g0030	42	348	0.1207	c.532 others(3): Show c.532G>A	p.Ala others(6): Show p.Ala178Thr	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	5/39	629/8252	532/4929	178/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69308362	C C	T T	missense_variant missense_variant	MODERATE	HG02083.hp2 HG02083.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0002 a0010c0014t0002	a0010c0014t0002g0256 a0010c0014t0002g0256	1	348	0.0029	c.476 others(3): Show c.476G>A	p.Cys others(6): Show p.Cys159Tyr	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	5/39	573/8252	476/4929	159/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69309378	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00408.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0002 a0009c0025t0002	a0009c0025t0002g0294 a0009c0025t0002g0294	1	348	0.0029	c.353 others(3): Show c.353C>T	p.Ser others(6): Show p.Ser118Phe	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	4/39	450/8252	353/4929	118/1642	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69081069	C C	T T	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00544.hp2	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0002 a0012c0024t0002	a0012c0024t0002g0215 a0012c0024t0002g0215	1	324	0.0031	c.469 others(4): Show c.4693G>A	p.Ala others(7): Show p.Ala1565Thr	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	37/39	4889/5321	4693/4854	1565/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69081096	G G	T T	missense_variant missense_variant	MODERATE	HG01975.hp2 HG02004.hp2 HG01975.hp2 HG02004.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0137 a0009c0012t0002g0139 a0009c0012t0002g0137 a0009c0012t0002g0139	2	324	0.0062	c.466 others(4): Show c.4666C>A	p.Leu others(7): Show p.Leu1556Ile	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	37/39	4862/5321	4666/4854	1556/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69083300	C C	G G	missense_variant missense_variant	MODERATE	HG02040.hp2 NA19086.hp1 HG02040.hp2 NA19086.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0002 a0010c0014t0002	a0010c0014t0002g0247 a0010c0014t0002g0250 a0010c0014t0002g0247 a0010c0014t0002g0250	2	324	0.0062	c.438 others(4): Show c.4387G>C	p.Glu others(7): Show p.Glu1463Gln	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	35/39	4583/5321	4387/4854	1463/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69084301	G G	A A	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02486.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0271 a0014c0021t0001g0271	1	324	0.0031	c.431 others(4): Show c.4315C>T	p.Pro others(7): Show p.Pro1439Ser	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	34/39	4511/5321	4315/4854	1439/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69085107	G G	C C	missense_variant missense_variant	MODERATE	NA19091.hp2 NA19091.hp2	a0025 a0025	a0025c0025 a0025c0025	a0025c0025t0002 a0025c0025t0002	a0025c0025t0002g0249 a0025c0025t0002g0249	1	324	0.0031	c.410 others(4): Show c.4105C>G	p.Leu others(7): Show p.Leu1369Val	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	32/39	4301/5321	4105/4854	1369/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69085689	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(140): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02965.hp2 HG02970.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18942.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18982.hp2 NA18985.hp2 NA18987.hp1 NA18989.hp2 NA18993.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19054.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19078.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0004 a0008 others(4): Show a0001 a0004 a0008 a0009 a0020 a0022 a0023	a0001c0001 a0004c0004 a0008c0008 others(4): Show a0001c0001 a0004c0004 a0008c0008 a0009c0012 a0020c0017 a0022c0026 a0023c0015	a0001c0001t0001 a0004c0004t0002 a0008c0008t0002 others(4): Show a0001c0001t0001 a0004c0004t0002 a0008c0008t0002 a0009c0012t0002 a0020c0017t0001 a0022c0026t0002 a0023c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(114): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0279 a0004c0004t0002g0006 a0004c0004t0002g0021 a0004c0004t0002g0022 a0004c0004t0002g0033 a0004c0004t0002g0130 a0004c0004t0002g0135 a0004c0004t0002g0136 a0004c0004t0002g0138 a0004c0004t0002g0140 a0004c0004t0002g0141 a0004c0004t0002g0142 a0004c0004t0002g0143 a0004c0004t0002g0144 a0004c0004t0002g0145 a0004c0004t0002g0146 a0004c0004t0002g0147 a0004c0004t0002g0148 a0004c0004t0002g0149 a0004c0004t0002g0150 a0004c0004t0002g0153 a0008c0008t0002g0020 a0008c0008t0002g0133 a0008c0008t0002g0134 a0009c0012t0002g0137 a0009c0012t0002g0139 a0020c0017t0001g0100 a0022c0026t0002g0106 a0023c0015t0001g0047	143	324	0.4414	c.396 others(4): Show c.3965A>G	p.Asn others(7): Show p.Asn1322Ser	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	31/39	4161/5321	3965/4854	1322/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086729	C C	T T	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03516.hp1 HG03098.hp1 HG03516.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0043 a0011c0011t0001g0044 a0011c0011t0001g0043 a0011c0011t0001g0044	2	324	0.0062	c.382 others(4): Show c.3826G>A	p.Val others(7): Show p.Val1276Ile	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/39	4022/5321	3826/4854	1276/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69087355	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0002 a0016c0018t0002	a0016c0018t0002g0060 a0016c0018t0002g0060	1	324	0.0031	c.381 others(4): Show c.3817G>A	p.Glu others(7): Show p.Glu1273Lys	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	29/39	4013/5321	3817/4854	1273/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69088219	A A	C C	missense_variant missense_variant	MODERATE	HG03239.hp1 HG03239.hp1	a0020 a0020	a0020c0017 a0020c0017	a0020c0017t0001 a0020c0017t0001	a0020c0017t0001g0100 a0020c0017t0001g0100	1	324	0.0031	c.364 others(4): Show c.3646T>G	p.Cys others(7): Show p.Cys1216Gly	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	28/39	3842/5321	3646/4854	1216/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69096764	T T	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0272 a0018c0022t0001g0272	1	324	0.0031	c.315 others(4): Show c.3158A>G	p.Tyr others(7): Show p.Tyr1053Cys	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	24/39	3354/5321	3158/4854	1053/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69096788	G G	A A	missense_variant missense_variant	MODERATE	HG06807.hp1 HG06807.hp1	a0021 a0021	a0021c0027 a0021c0027	a0021c0027t0002 a0021c0027t0002	a0021c0027t0002g0202 a0021c0027t0002g0202	1	324	0.0031	c.313 others(4): Show c.3134C>T	p.Ser others(7): Show p.Ser1045Phe	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	24/39	3330/5321	3134/4854	1045/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69105577	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18993.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0007 others(9): Show a0001 a0002 a0007 a0010 a0012 a0016 a0020 a0021 a0022 a0023 a0024 a0025	a0001c0001 a0002c0002 a0002c0019 others(10): Show a0001c0001 a0002c0002 a0002c0019 a0007c0006 a0010c0014 a0012c0024 a0016c0018 a0020c0017 a0021c0027 a0022c0026 a0023c0015 a0024c0023 a0025c0025	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(13): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0019t0002 a0007c0006t0001 a0007c0006t0002 a0010c0014t0002 a0012c0024t0002 a0016c0018t0002 a0020c0017t0001 a0021c0027t0002 a0022c0026t0002 a0023c0015t0001 a0024c0023t0002 a0025c0025t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(188): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0279 a0002c0002t0001g0025 a0002c0002t0001g0169 a0002c0002t0001g0224 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0162 a0002c0002t0002g0166 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0187 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0248 a0002c0002t0002g0251 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0003g0228 a0002c0019t0002g0186 a0007c0006t0001g0061 a0007c0006t0001g0087 a0007c0006t0001g0088 a0007c0006t0001g0104 a0007c0006t0001g0105 a0007c0006t0002g0035 a0007c0006t0002g0057 a0007c0006t0002g0099 a0007c0006t0002g0110 a0010c0014t0002g0247 a0010c0014t0002g0250 a0012c0024t0002g0215 a0016c0018t0002g0060 a0020c0017t0001g0100 a0021c0027t0002g0202 a0022c0026t0002g0106 a0023c0015t0001g0047 a0024c0023t0002g0188 a0025c0025t0002g0249	221	324	0.6821	c.262 others(4): Show c.2625G>A	p.Met others(6): Show p.Met875Ile	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	20/39	2821/5321	2625/4854	875/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69106192	C C	G G	missense_variant missense_variant	MODERATE	HG03209.hp2 HG03209.hp2	a0019 a0019	a0019c0020 a0019c0020	a0019c0020t0001 a0019c0020t0001	a0019c0020t0001g0263 a0019c0020t0001g0263	1	324	0.0031	c.240 others(4): Show c.2409G>C	p.Met others(6): Show p.Met803Ile	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	19/39	2605/5321	2409/4854	803/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69110801	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19089.hp1 NA19089.hp1	a0024 a0024	a0024c0023 a0024c0023	a0024c0023t0002 a0024c0023t0002	a0024c0023t0002g0188 a0024c0023t0002g0188	1	324	0.0031	c.227 others(4): Show c.2272G>A	p.Asp others(6): Show p.Asp758Asn	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	17/39	2468/5321	2272/4854	758/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69112221	C C	G G	missense_variant missense_variant	MODERATE	HG00609.hp1 HG00639.hp2 HG00733.hp1 others(84): Show HG00609.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02148.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp2 NA18945.hp1 NA18959.hp1 NA18965.hp2 NA18974.hp1 NA18985.hp2 NA18989.hp2 NA18993.hp2 NA19000.hp1 NA19002.hp2 NA19030.hp2 NA19060.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0003 a0004 a0005 others(8): Show a0003 a0004 a0005 a0008 a0009 a0011 a0013 a0014 a0017 a0018 a0019	a0003c0003 a0003c0009 a0004c0004 others(9): Show a0003c0003 a0003c0009 a0004c0004 a0005c0005 a0008c0008 a0009c0012 a0011c0011 a0013c0016 a0014c0021 a0017c0030 a0018c0022 a0019c0020	a0003c0003t0001 a0003c0009t0001 a0004c0004t0002 others(10): Show a0003c0003t0001 a0003c0009t0001 a0004c0004t0002 a0005c0005t0001 a0005c0005t0002 a0008c0008t0002 a0009c0012t0002 a0011c0011t0001 a0013c0016t0001 a0014c0021t0001 a0017c0030t0002 a0018c0022t0001 a0019c0020t0001	a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0030 others(71): Show a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0009t0001g0167 a0003c0009t0001g0168 a0003c0009t0001g0258 a0004c0004t0002g0006 a0004c0004t0002g0021 a0004c0004t0002g0022 a0004c0004t0002g0033 a0004c0004t0002g0130 a0004c0004t0002g0135 a0004c0004t0002g0136 a0004c0004t0002g0138 a0004c0004t0002g0140 a0004c0004t0002g0141 a0004c0004t0002g0142 a0004c0004t0002g0143 a0004c0004t0002g0144 a0004c0004t0002g0145 a0004c0004t0002g0146 a0004c0004t0002g0147 a0004c0004t0002g0148 a0004c0004t0002g0149 a0004c0004t0002g0150 a0004c0004t0002g0153 a0005c0005t0001g0157 a0005c0005t0001g0158 a0005c0005t0002g0007 a0005c0005t0002g0123 a0005c0005t0002g0124 a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0127 a0005c0005t0002g0128 a0005c0005t0002g0131 a0005c0005t0002g0132 a0005c0005t0002g0151 a0005c0005t0002g0152 a0005c0005t0002g0154 a0005c0005t0002g0155 a0005c0005t0002g0156 a0005c0005t0002g0160 a0008c0008t0002g0020 a0008c0008t0002g0133 a0008c0008t0002g0134 a0009c0012t0002g0137 a0009c0012t0002g0139 a0011c0011t0001g0043 a0011c0011t0001g0044 a0013c0016t0001g0159 a0014c0021t0001g0271 a0017c0030t0002g0129 a0018c0022t0001g0272 a0019c0020t0001g0263	87	324	0.2685	c.209 others(4): Show c.2094G>C	p.Met others(6): Show p.Met698Ile	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	16/39	2290/5321	2094/4854	698/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69113692	T T	A A	missense_variant missense_variant	MODERATE	HG00609.hp1 HG00733.hp1 HG01070.hp1 others(50): Show HG00609.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02148.hp2 HG02886.hp2 HG02895.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03490.hp2 HG03516.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp2 NA18612.hp1 NA18940.hp2 NA18945.hp1 NA18959.hp1 NA18965.hp2 NA18974.hp1 NA18985.hp2 NA18989.hp2 NA18993.hp2 NA19000.hp1 NA19002.hp2 NA19030.hp2 NA19060.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19086.hp2 NA20752.hp2 NA21309.hp1	a0004 a0005 a0008 others(4): Show a0004 a0005 a0008 a0009 a0011 a0013 a0017	a0004c0004 a0005c0005 a0008c0008 others(4): Show a0004c0004 a0005c0005 a0008c0008 a0009c0012 a0011c0011 a0013c0016 a0017c0030	a0004c0004t0002 a0005c0005t0001 a0005c0005t0002 others(5): Show a0004c0004t0002 a0005c0005t0001 a0005c0005t0002 a0008c0008t0002 a0009c0012t0002 a0011c0011t0001 a0013c0016t0001 a0017c0030t0002	a0004c0004t0002g0006 a0004c0004t0002g0021 a0004c0004t0002g0022 others(43): Show a0004c0004t0002g0006 a0004c0004t0002g0021 a0004c0004t0002g0022 a0004c0004t0002g0033 a0004c0004t0002g0130 a0004c0004t0002g0135 a0004c0004t0002g0136 a0004c0004t0002g0138 a0004c0004t0002g0140 a0004c0004t0002g0141 a0004c0004t0002g0142 a0004c0004t0002g0143 a0004c0004t0002g0144 a0004c0004t0002g0145 a0004c0004t0002g0146 a0004c0004t0002g0147 a0004c0004t0002g0148 a0004c0004t0002g0149 a0004c0004t0002g0150 a0004c0004t0002g0153 a0005c0005t0001g0157 a0005c0005t0001g0158 a0005c0005t0002g0007 a0005c0005t0002g0123 a0005c0005t0002g0124 a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0127 a0005c0005t0002g0128 a0005c0005t0002g0131 a0005c0005t0002g0132 a0005c0005t0002g0151 a0005c0005t0002g0152 a0005c0005t0002g0154 a0005c0005t0002g0155 a0005c0005t0002g0156 a0005c0005t0002g0160 a0008c0008t0002g0020 a0008c0008t0002g0133 a0008c0008t0002g0134 a0009c0012t0002g0137 a0009c0012t0002g0139 a0011c0011t0001g0043 a0011c0011t0001g0044 a0013c0016t0001g0159 a0017c0030t0002g0129	53	324	0.1636	c.182 others(4): Show c.1828A>T	p.Asn others(6): Show p.Asn610Tyr	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	14/39	2024/5321	1828/4854	610/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69115434	A A	T T	missense_variant missense_variant	MODERATE	HG01243.hp2 HG01243.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0159 a0013c0016t0001g0159	1	324	0.0031	c.154 others(4): Show c.1548T>A	p.Ser others(6): Show p.Ser516Arg	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	12/39	1744/5321	1548/4854	516/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69124968	A A	G G	missense_variant missense_variant	MODERATE	NA18974.hp1 NA18985.hp2 NA18993.hp2 others(1): Show NA18974.hp1 NA18985.hp2 NA18993.hp2 NA19086.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0020 a0008c0008t0002g0133 a0008c0008t0002g0134 a0008c0008t0002g0020 a0008c0008t0002g0133 a0008c0008t0002g0134	4	324	0.0123	c.118 others(4): Show c.1187T>C	p.Met others(6): Show p.Met396Thr	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	9/39	1383/5321	1187/4854	396/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69129699	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(172): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18982.hp2 NA18985.hp2 NA18987.hp1 NA18989.hp2 NA18993.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19078.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(9): Show a0001 a0004 a0005 a0007 a0008 a0009 a0011 a0013 a0016 a0017 a0020 a0023	a0001c0001 a0004c0004 a0005c0005 others(9): Show a0001c0001 a0004c0004 a0005c0005 a0007c0006 a0008c0008 a0009c0012 a0011c0011 a0013c0016 a0016c0018 a0017c0030 a0020c0017 a0023c0015	a0001c0001t0001 a0004c0004t0002 a0005c0005t0001 others(11): Show a0001c0001t0001 a0004c0004t0002 a0005c0005t0001 a0005c0005t0002 a0007c0006t0001 a0007c0006t0002 a0008c0008t0002 a0009c0012t0002 a0011c0011t0001 a0013c0016t0001 a0016c0018t0002 a0017c0030t0002 a0020c0017t0001 a0023c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(144): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0279 a0004c0004t0002g0006 a0004c0004t0002g0021 a0004c0004t0002g0022 a0004c0004t0002g0033 a0004c0004t0002g0130 a0004c0004t0002g0135 a0004c0004t0002g0136 a0004c0004t0002g0138 a0004c0004t0002g0140 a0004c0004t0002g0141 a0004c0004t0002g0142 a0004c0004t0002g0143 a0004c0004t0002g0144 a0004c0004t0002g0145 a0004c0004t0002g0146 a0004c0004t0002g0147 a0004c0004t0002g0148 a0004c0004t0002g0149 a0004c0004t0002g0150 a0004c0004t0002g0153 a0005c0005t0001g0157 a0005c0005t0001g0158 a0005c0005t0002g0007 a0005c0005t0002g0123 a0005c0005t0002g0124 a0005c0005t0002g0125 a0005c0005t0002g0126 a0005c0005t0002g0127 a0005c0005t0002g0128 a0005c0005t0002g0131 a0005c0005t0002g0132 a0005c0005t0002g0151 a0005c0005t0002g0152 a0005c0005t0002g0154 a0005c0005t0002g0155 a0005c0005t0002g0156 a0005c0005t0002g0160 a0007c0006t0001g0061 a0007c0006t0001g0087 a0007c0006t0001g0088 a0007c0006t0001g0104 a0007c0006t0001g0105 a0007c0006t0002g0035 a0007c0006t0002g0057 a0007c0006t0002g0099 a0007c0006t0002g0110 a0008c0008t0002g0020 a0008c0008t0002g0133 a0008c0008t0002g0134 a0009c0012t0002g0137 a0009c0012t0002g0139 a0011c0011t0001g0043 a0011c0011t0001g0044 a0013c0016t0001g0159 a0016c0018t0002g0060 a0017c0030t0002g0129 a0020c0017t0001g0100 a0023c0015t0001g0047	175	324	0.5401	c.844 others(3): Show c.844G>A	p.Val others(6): Show p.Val282Ile	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	7/39	1040/5321	844/4854	282/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69133710	T T	C C	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0015 a0015	a0015c0029 a0015c0029	a0015c0029t0001 a0015c0029t0001	a0015c0029t0001g0240 a0015c0029t0001g0240	1	324	0.0031	c.722 others(3): Show c.722A>G	p.Asn others(6): Show p.Asn241Ser	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	6/39	918/5321	722/4854	241/1617	chr17	TogoVar

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