Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ABCC6_chr16_16144565_16228494	16185006	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(97): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 NA18522.hp2 NA18747.hp1 NA18943.hp2 NA18947.hp1 NA18949.hp1 NA18953.hp1 NA18962.hp1 NA18968.hp2 NA18971.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19066.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1	a0002 a0003 a0007 others(8): Show a0002 a0003 a0007 a0009 a0012 a0018 a0020 a0025 a0026 a0031 a0032	a0002c0003 a0002c0013 a0002c0014 others(22): Show a0002c0003 a0002c0013 a0002c0014 a0002c0022 a0002c0024 a0002c0051 a0002c0057 a0002c0068 a0002c0074 a0003c0005 a0003c0007 a0003c0021 a0003c0071 a0007c0009 a0009c0029 a0009c0042 a0009c0045 a0012c0020 a0012c0050 a0018c0034 a0020c0027 a0025c0076 a0026c0039 a0031c0058 a0032c0038	a0002c0003t0001 a0002c0013t0001 a0002c0014t0001 others(24): Show a0002c0003t0001 a0002c0013t0001 a0002c0014t0001 a0002c0022t0001 a0002c0024t0001 a0002c0051t0001 a0002c0057t0001 a0002c0068t0001 a0002c0074t0001 a0003c0005t0001 a0003c0005t0005 a0003c0005t0008 a0003c0007t0001 a0003c0021t0001 a0003c0071t0001 a0007c0009t0001 a0009c0029t0001 a0009c0042t0001 a0009c0045t0001 a0012c0020t0001 a0012c0050t0001 a0018c0034t0001 a0020c0027t0007 a0025c0076t0001 a0026c0039t0001 a0031c0058t0001 a0032c0038t0001	a0002c0003t0001g0002 a0002c0003t0001g0013 a0002c0003t0001g0074 others(96): Show a0002c0003t0001g0002 a0002c0003t0001g0013 a0002c0003t0001g0074 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0123 a0002c0003t0001g0142 a0002c0003t0001g0146 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0176 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0232 a0002c0003t0001g0257 a0002c0003t0001g0261 a0002c0003t0001g0267 a0002c0003t0001g0306 a0002c0003t0001g0316 a0002c0003t0001g0320 a0002c0003t0001g0333 a0002c0003t0001g0350 a0002c0013t0001g0241 a0002c0013t0001g0243 a0002c0013t0001g0244 a0002c0013t0001g0253 a0002c0013t0001g0266 a0002c0014t0001g0284 a0002c0014t0001g0288 a0002c0014t0001g0289 a0002c0014t0001g0328 a0002c0014t0001g0331 a0002c0022t0001g0095 a0002c0022t0001g0345 a0002c0024t0001g0153 a0002c0024t0001g0155 a0002c0051t0001g0353 a0002c0057t0001g0255 a0002c0068t0001g0097 a0002c0074t0001g0186 a0003c0005t0001g0028 a0003c0005t0001g0029 a0003c0005t0001g0084 a0003c0005t0001g0135 a0003c0005t0001g0158 a0003c0005t0001g0177 a0003c0005t0001g0178 a0003c0005t0001g0197 a0003c0005t0001g0228 a0003c0005t0001g0260 a0003c0005t0001g0282 a0003c0005t0001g0307 a0003c0005t0001g0309 a0003c0005t0001g0314 a0003c0005t0001g0318 a0003c0005t0001g0319 a0003c0005t0001g0321 a0003c0005t0005g0213 a0003c0005t0008g0317 a0003c0007t0001g0036 a0003c0007t0001g0098 a0003c0007t0001g0101 a0003c0007t0001g0102 a0003c0007t0001g0104 a0003c0007t0001g0109 a0003c0007t0001g0110 a0003c0007t0001g0210 a0003c0007t0001g0221 a0003c0007t0001g0245 a0003c0021t0001g0011 a0003c0021t0001g0012 a0003c0071t0001g0035 a0007c0009t0001g0044 a0007c0009t0001g0048 a0007c0009t0001g0050 a0007c0009t0001g0116 a0007c0009t0001g0118 a0007c0009t0001g0119 a0007c0009t0001g0120 a0009c0029t0001g0159 a0009c0029t0001g0230 a0009c0042t0001g0099 a0009c0045t0001g0106 a0012c0020t0001g0055 a0012c0020t0001g0056 a0012c0020t0001g0057 a0012c0050t0001g0040 a0018c0034t0001g0001 a0020c0027t0007g0293 a0020c0027t0007g0294 a0025c0076t0001g0047 a0026c0039t0001g0032 a0031c0058t0001g0165 a0032c0038t0001g0033	100	356	0.2809	c.189 others(4): Show c.1896C>A	p.His others(6): Show p.His632Gln	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	15/31	1956/5140	1896/4512	632/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16187150	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(100): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 NA18522.hp2 NA18747.hp1 NA18943.hp2 NA18947.hp1 NA18949.hp1 NA18953.hp1 NA18962.hp1 NA18968.hp2 NA18971.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19066.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1	a0002 a0003 a0007 others(11): Show a0002 a0003 a0007 a0009 a0010 a0018 a0020 a0024 a0025 a0026 a0027 a0031 a0034 a0044	a0002c0003 a0002c0013 a0002c0014 others(24): Show a0002c0003 a0002c0013 a0002c0014 a0002c0022 a0002c0024 a0002c0051 a0002c0057 a0002c0068 a0002c0074 a0003c0005 a0003c0007 a0003c0021 a0003c0071 a0007c0009 a0009c0029 a0009c0042 a0009c0045 a0010c0015 a0018c0034 a0020c0027 a0024c0075 a0025c0076 a0026c0039 a0027c0073 a0031c0058 a0034c0056 a0044c0044	a0002c0003t0001 a0002c0013t0001 a0002c0014t0001 others(26): Show a0002c0003t0001 a0002c0013t0001 a0002c0014t0001 a0002c0022t0001 a0002c0024t0001 a0002c0051t0001 a0002c0057t0001 a0002c0068t0001 a0002c0074t0001 a0003c0005t0001 a0003c0005t0005 a0003c0005t0008 a0003c0007t0001 a0003c0021t0001 a0003c0071t0001 a0007c0009t0001 a0009c0029t0001 a0009c0042t0001 a0009c0045t0001 a0010c0015t0001 a0018c0034t0001 a0020c0027t0007 a0024c0075t0001 a0025c0076t0001 a0026c0039t0001 a0027c0073t0001 a0031c0058t0001 a0034c0056t0001 a0044c0044t0001	a0002c0003t0001g0002 a0002c0003t0001g0013 a0002c0003t0001g0074 others(99): Show a0002c0003t0001g0002 a0002c0003t0001g0013 a0002c0003t0001g0074 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0123 a0002c0003t0001g0142 a0002c0003t0001g0146 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0176 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0232 a0002c0003t0001g0257 a0002c0003t0001g0261 a0002c0003t0001g0267 a0002c0003t0001g0306 a0002c0003t0001g0316 a0002c0003t0001g0320 a0002c0003t0001g0333 a0002c0003t0001g0350 a0002c0013t0001g0241 a0002c0013t0001g0243 a0002c0013t0001g0244 a0002c0013t0001g0253 a0002c0013t0001g0266 a0002c0014t0001g0284 a0002c0014t0001g0288 a0002c0014t0001g0289 a0002c0014t0001g0328 a0002c0014t0001g0331 a0002c0022t0001g0095 a0002c0022t0001g0345 a0002c0024t0001g0153 a0002c0024t0001g0155 a0002c0051t0001g0353 a0002c0057t0001g0255 a0002c0068t0001g0097 a0002c0074t0001g0186 a0003c0005t0001g0028 a0003c0005t0001g0029 a0003c0005t0001g0084 a0003c0005t0001g0135 a0003c0005t0001g0158 a0003c0005t0001g0177 a0003c0005t0001g0178 a0003c0005t0001g0197 a0003c0005t0001g0228 a0003c0005t0001g0260 a0003c0005t0001g0282 a0003c0005t0001g0307 a0003c0005t0001g0309 a0003c0005t0001g0314 a0003c0005t0001g0318 a0003c0005t0001g0319 a0003c0005t0001g0321 a0003c0005t0005g0213 a0003c0005t0008g0317 a0003c0007t0001g0036 a0003c0007t0001g0098 a0003c0007t0001g0101 a0003c0007t0001g0102 a0003c0007t0001g0104 a0003c0007t0001g0109 a0003c0007t0001g0110 a0003c0007t0001g0210 a0003c0007t0001g0221 a0003c0007t0001g0245 a0003c0021t0001g0011 a0003c0021t0001g0012 a0003c0071t0001g0035 a0007c0009t0001g0044 a0007c0009t0001g0048 a0007c0009t0001g0050 a0007c0009t0001g0116 a0007c0009t0001g0118 a0007c0009t0001g0119 a0007c0009t0001g0120 a0009c0029t0001g0159 a0009c0029t0001g0230 a0009c0042t0001g0099 a0009c0045t0001g0106 a0010c0015t0001g0018 a0010c0015t0001g0019 a0010c0015t0001g0022 a0010c0015t0001g0327 a0018c0034t0001g0001 a0020c0027t0007g0293 a0020c0027t0007g0294 a0024c0075t0001g0049 a0025c0076t0001g0047 a0026c0039t0001g0032 a0027c0073t0001g0016 a0031c0058t0001g0165 a0034c0056t0001g0041 a0044c0044t0001g0302	103	356	0.2893	c.184 others(4): Show c.1841T>C	p.Val others(6): Show p.Val614Ala	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	14/31	1901/5140	1841/4512	614/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16190229	C C	A A	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0029 a0029	a0029c0069 a0029c0069	a0029c0069t0001 a0029c0069t0001	a0029c0069t0001g0015 a0029c0069t0001g0015	1	356	0.0028	c.157 others(4): Show c.1570G>T	p.Ala others(6): Show p.Ala524Ser	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	12/31	1630/5140	1570/4512	524/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16198076	T T	C C	missense_variant missense_variant	MODERATE	NA19074.hp2 NA19074.hp2	a0041 a0041	a0041c0070 a0041c0070	a0041c0070t0002 a0041c0070t0002	a0041c0070t0002g0067 a0041c0070t0002g0067	1	356	0.0028	c.128 others(4): Show c.1283A>G	p.Asn others(6): Show p.Asn428Ser	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	10/31	1343/5140	1283/4512	428/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16198116	C C	T T	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00438.hp1	a0023 a0023	a0023c0053 a0023c0053	a0023c0053t0001 a0023c0053t0001	a0023c0053t0001g0154 a0023c0053t0001g0154	1	356	0.0028	c.124 others(4): Show c.1243G>A	p.Val others(6): Show p.Val415Met	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	10/31	1303/5140	1243/4512	415/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16203453	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp2 NA20300.hp1 HG02258.hp2 NA20300.hp1	a0017 a0017	a0017c0035 a0017c0035	a0017c0035t0001 a0017c0035t0001	a0017c0035t0001g0077 a0017c0035t0001g0078 a0017c0035t0001g0077 a0017c0035t0001g0078	2	356	0.0056	c.955 others(3): Show c.955A>G	p.Ile others(6): Show p.Ile319Val	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	8/31	1015/5140	955/4512	319/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16208729	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00323.hp1 HG00642.hp1 HG00733.hp1 others(23): Show HG00323.hp1 HG00642.hp1 HG00733.hp1 HG01081.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02071.hp1 HG02258.hp2 HG02300.hp2 HG02970.hp1 HG03195.hp1 HG03471.hp2 HG03579.hp1 NA18942.hp1 NA18943.hp2 NA18978.hp1 NA18981.hp2 NA18983.hp1 NA19007.hp1 NA19066.hp2 NA19079.hp2 NA19084.hp1 NA19240.hp1 NA20300.hp1	a0004 a0007 a0017 others(4): Show a0004 a0007 a0017 a0018 a0024 a0025 a0033	a0004c0010 a0004c0017 a0004c0078 others(6): Show a0004c0010 a0004c0017 a0004c0078 a0007c0009 a0017c0035 a0018c0034 a0024c0075 a0025c0076 a0033c0077	a0004c0010t0001 a0004c0017t0001 a0004c0078t0001 others(6): Show a0004c0010t0001 a0004c0017t0001 a0004c0078t0001 a0007c0009t0001 a0017c0035t0001 a0018c0034t0001 a0024c0075t0001 a0025c0076t0001 a0033c0077t0001	a0004c0010t0001g0042 a0004c0010t0001g0043 a0004c0010t0001g0045 others(22): Show a0004c0010t0001g0042 a0004c0010t0001g0043 a0004c0010t0001g0045 a0004c0010t0001g0046 a0004c0010t0001g0073 a0004c0010t0001g0075 a0004c0010t0001g0342 a0004c0017t0001g0076 a0004c0017t0001g0193 a0004c0017t0001g0214 a0004c0017t0001g0254 a0004c0078t0001g0199 a0007c0009t0001g0044 a0007c0009t0001g0048 a0007c0009t0001g0050 a0007c0009t0001g0116 a0007c0009t0001g0118 a0007c0009t0001g0119 a0007c0009t0001g0120 a0017c0035t0001g0077 a0017c0035t0001g0078 a0018c0034t0001g0001 a0024c0075t0001g0049 a0025c0076t0001g0047 a0033c0077t0001g0198	26	356	0.0730	c.793 others(3): Show c.793A>G	p.Arg others(6): Show p.Arg265Gly	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	7/31	853/5140	793/4512	265/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16212240	A A	G G	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0022 a0022	a0022c0041 a0022c0041	a0022c0041t0001 a0022c0041t0001	a0022c0041t0001g0216 a0022c0041t0001g0216	1	356	0.0028	c.607 others(3): Show c.607T>C	p.Cys others(6): Show p.Cys203Arg	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	6/31	667/5140	607/4512	203/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16214364	G G	A A	missense_variant missense_variant	MODERATE	NA20905.hp2 NA20905.hp2	a0045 a0045	a0045c0080 a0045c0080	a0045c0080t0001 a0045c0080t0001	a0045c0080t0001g0090 a0045c0080t0001g0090	1	356	0.0028	c.560 others(3): Show c.560C>T	p.Ala others(6): Show p.Ala187Val	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	5/31	620/5140	560/4512	187/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16214437	C C	T T	missense_variant missense_variant	MODERATE	HG02280.hp2 HG03209.hp2 NA19043.hp1 HG02280.hp2 HG03209.hp2 NA19043.hp1	a0026 a0032 a0040 a0026 a0032 a0040	a0026c0039 a0032c0038 a0040c0040 a0026c0039 a0032c0038 a0040c0040	a0026c0039t0001 a0032c0038t0001 a0040c0040t0001 a0026c0039t0001 a0032c0038t0001 a0040c0040t0001	a0026c0039t0001g0032 a0032c0038t0001g0033 a0040c0040t0001g0031 a0026c0039t0001g0032 a0032c0038t0001g0033 a0040c0040t0001g0031	3	356	0.0084	c.487 others(3): Show c.487G>A	p.Asp others(6): Show p.Asp163Asn	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	5/31	547/5140	487/4512	163/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16219555	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02258.hp1 HG02922.hp2 HG02965.hp1 others(1): Show HG02258.hp1 HG02922.hp2 HG02965.hp1 HG06807.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0249 a0014c0018t0001g0250 a0014c0018t0001g0251 others(1): Show a0014c0018t0001g0249 a0014c0018t0001g0250 a0014c0018t0001g0251 a0014c0018t0001g0252	4	356	0.0112	c.473 others(3): Show c.473C>T	p.Ala others(6): Show p.Ala158Val	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	4/31	533/5140	473/4512	158/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16219655	C C	T T	missense_variant missense_variant	MODERATE	NA19007.hp2 NA19007.hp2	a0039 a0039	a0039c0037 a0039c0037	a0039c0037t0001 a0039c0037t0001	a0039c0037t0001g0355 a0039c0037t0001g0355	1	356	0.0028	c.373 others(3): Show c.373G>A	p.Glu others(6): Show p.Glu125Lys	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	4/31	433/5140	373/4512	125/1503	chr16	TogoVar
ABCC6_chr16_16144565_16228494	16221759	C C	A A	missense_variant missense_variant	MODERATE	NA18944.hp1 NA19065.hp1 NA18944.hp1 NA19065.hp1	a0019 a0019	a0019c0036 a0019c0036	a0019c0036t0001 a0019c0036t0001	a0019c0036t0001g0343 a0019c0036t0001g0344 a0019c0036t0001g0343 a0019c0036t0001g0344	2	356	0.0056	c.109 others(3): Show c.109G>T	p.Val others(5): Show p.Val37Phe	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	2/31	169/5140	109/4512	37/1503	chr16	TogoVar
ABCC8_chr11_17387885_17481845	17393023	C C	T T	missense_variant missense_variant	MODERATE	HG01433.hp2 HG01884.hp1 HG02622.hp2 others(3): Show HG01433.hp2 HG01884.hp1 HG02622.hp2 HG02735.hp1 HG02886.hp2 HG03017.hp1	a0003 a0003	a0003c0029 a0003c0032 a0003c0036 others(1): Show a0003c0029 a0003c0032 a0003c0036 a0003c0063	a0003c0029t0001 a0003c0029t0002 a0003c0032t0001 others(2): Show a0003c0029t0001 a0003c0029t0002 a0003c0032t0001 a0003c0036t0001 a0003c0063t0001	a0003c0029t0001g0325 a0003c0029t0002g0011 a0003c0032t0001g0195 others(3): Show a0003c0029t0001g0325 a0003c0029t0002g0011 a0003c0032t0001g0195 a0003c0032t0001g0199 a0003c0036t0001g0045 a0003c0063t0001g0052	6	328	0.0183	c.471 others(4): Show c.4714G>A	p.Val others(7): Show p.Val1572Ile	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	39/39	4783/4921	4714/4746	1572/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17396930	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(249): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19078.hp2 NA19080.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(9): Show a0001 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015	a0001c0001 a0001c0003 a0001c0004 others(59): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0028 a0001c0031 a0001c0033 a0001c0034 a0001c0035 a0001c0043 a0001c0046 a0001c0049 a0001c0051 a0001c0053 a0001c0058 a0001c0059 a0001c0061 a0001c0062 a0001c0065 a0001c0068 a0001c0070 a0001c0071 a0001c0073 a0001c0075 a0001c0076 a0001c0077 a0001c0079 a0001c0080 a0001c0081 a0003c0029 a0003c0032 a0003c0036 a0003c0063 a0004c0038 a0004c0040 a0004c0041 a0005c0048 a0007c0067 a0008c0072 a0009c0042 a0010c0056 a0011c0057 a0013c0066 a0014c0037 a0015c0055	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(66): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0009t0003 a0001c0010t0001 a0001c0010t0002 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0014t0002 a0001c0015t0001 a0001c0017t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0001c0021t0003 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0026t0004 a0001c0028t0001 a0001c0031t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0002 a0001c0043t0001 a0001c0046t0001 a0001c0049t0001 a0001c0051t0001 a0001c0053t0001 a0001c0058t0001 a0001c0059t0001 a0001c0061t0001 a0001c0062t0001 a0001c0065t0001 a0001c0068t0001 a0001c0070t0002 a0001c0071t0001 a0001c0073t0001 a0001c0075t0001 a0001c0076t0002 a0001c0077t0001 a0001c0079t0001 a0001c0080t0001 a0001c0081t0001 a0003c0029t0001 a0003c0029t0002 a0003c0032t0001 a0003c0036t0001 a0003c0063t0001 a0004c0038t0001 a0004c0040t0001 a0004c0041t0001 a0005c0048t0001 a0007c0067t0001 a0008c0072t0001 a0009c0042t0001 a0010c0056t0002 a0011c0057t0001 a0013c0066t0001 a0014c0037t0001 a0015c0055t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(245): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0137 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0317 a0001c0003t0001g0030 a0001c0003t0001g0082 a0001c0003t0001g0085 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0115 a0001c0003t0001g0119 a0001c0003t0001g0130 a0001c0003t0001g0160 a0001c0003t0001g0162 a0001c0003t0001g0164 a0001c0003t0001g0167 a0001c0003t0001g0282 a0001c0003t0001g0302 a0001c0003t0001g0309 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0004t0001g0144 a0001c0004t0001g0178 a0001c0004t0001g0187 a0001c0004t0001g0216 a0001c0004t0001g0223 a0001c0004t0001g0227 a0001c0004t0001g0232 a0001c0004t0001g0250 a0001c0004t0001g0256 a0001c0004t0001g0257 a0001c0004t0001g0258 a0001c0004t0001g0260 a0001c0004t0001g0262 a0001c0004t0001g0269 a0001c0004t0001g0270 a0001c0004t0001g0293 a0001c0004t0001g0296 a0001c0004t0002g0012 a0001c0006t0001g0044 a0001c0006t0001g0079 a0001c0006t0001g0080 a0001c0006t0001g0083 a0001c0006t0001g0090 a0001c0006t0001g0091 a0001c0006t0001g0092 a0001c0006t0001g0096 a0001c0006t0001g0097 a0001c0006t0001g0102 a0001c0006t0001g0103 a0001c0006t0001g0107 a0001c0006t0001g0278 a0001c0007t0001g0036 a0001c0007t0001g0117 a0001c0007t0001g0120 a0001c0007t0001g0125 a0001c0007t0001g0126 a0001c0007t0001g0127 a0001c0007t0001g0128 a0001c0007t0001g0129 a0001c0007t0001g0131 a0001c0007t0001g0139 a0001c0007t0001g0163 a0001c0007t0001g0310 a0001c0008t0001g0039 a0001c0008t0001g0040 a0001c0008t0001g0041 a0001c0008t0001g0042 a0001c0008t0001g0047 a0001c0008t0001g0081 a0001c0008t0001g0140 a0001c0008t0001g0157 a0001c0008t0001g0165 a0001c0008t0001g0307 a0001c0008t0001g0308 a0001c0009t0001g0002 a0001c0009t0001g0050 a0001c0009t0001g0150 a0001c0009t0001g0201 a0001c0009t0001g0251 a0001c0009t0001g0268 a0001c0009t0001g0289 a0001c0009t0001g0290 a0001c0009t0001g0291 a0001c0009t0003g0015 a0001c0010t0001g0049 a0001c0010t0001g0135 a0001c0010t0001g0136 a0001c0010t0001g0142 a0001c0010t0001g0143 a0001c0010t0001g0191 a0001c0010t0001g0192 a0001c0010t0001g0194 a0001c0010t0001g0203 a0001c0010t0001g0298 a0001c0010t0002g0005 a0001c0012t0001g0073 a0001c0012t0001g0151 a0001c0012t0001g0171 a0001c0012t0001g0210 a0001c0012t0001g0211 a0001c0012t0001g0212 a0001c0012t0001g0243 a0001c0012t0001g0252 a0001c0012t0001g0259 a0001c0013t0001g0064 a0001c0013t0001g0069 a0001c0013t0001g0152 a0001c0013t0001g0175 a0001c0013t0001g0189 a0001c0013t0001g0197 a0001c0013t0001g0242 a0001c0013t0001g0267 a0001c0013t0001g0314 a0001c0014t0001g0032 a0001c0014t0001g0084 a0001c0014t0001g0168 a0001c0014t0001g0170 a0001c0014t0001g0320 a0001c0014t0001g0322 a0001c0014t0002g0006 a0001c0014t0002g0009 a0001c0015t0001g0018 a0001c0015t0001g0019 a0001c0015t0001g0020 a0001c0015t0001g0021 a0001c0015t0001g0022 a0001c0015t0001g0023 a0001c0015t0001g0024 a0001c0015t0001g0155 a0001c0017t0001g0003 a0001c0017t0001g0051 a0001c0017t0001g0070 a0001c0017t0001g0179 a0001c0017t0001g0186 a0001c0019t0001g0122 a0001c0019t0001g0280 a0001c0019t0001g0284 a0001c0019t0001g0304 a0001c0019t0001g0321 a0001c0020t0001g0004 a0001c0020t0001g0043 a0001c0020t0001g0156 a0001c0020t0001g0319 a0001c0021t0001g0138 a0001c0021t0001g0220 a0001c0021t0001g0231 a0001c0021t0003g0014 a0001c0022t0001g0072 a0001c0022t0001g0292 a0001c0022t0001g0294 a0001c0022t0001g0297 a0001c0023t0001g0031 a0001c0023t0001g0205 a0001c0023t0001g0253 a0001c0024t0001g0153 a0001c0024t0001g0154 a0001c0024t0001g0264 a0001c0025t0001g0055 a0001c0025t0001g0056 a0001c0025t0001g0075 a0001c0026t0001g0033 a0001c0026t0001g0035 a0001c0026t0004g0326 a0001c0028t0001g0077 a0001c0028t0001g0159 a0001c0031t0001g0241 a0001c0031t0001g0244 a0001c0033t0001g0001 a0001c0034t0001g0176 a0001c0034t0001g0177 a0001c0035t0002g0013 a0001c0043t0001g0093 a0001c0046t0001g0166 a0001c0049t0001g0141 a0001c0051t0001g0116 a0001c0053t0001g0158 a0001c0058t0001g0046 a0001c0059t0001g0206 a0001c0061t0001g0311 a0001c0062t0001g0261 a0001c0065t0001g0288 a0001c0068t0001g0048 a0001c0070t0002g0008 a0001c0071t0001g0071 a0001c0073t0001g0054 a0001c0075t0001g0034 a0001c0076t0002g0007 a0001c0077t0001g0313 a0001c0079t0001g0016 a0001c0080t0001g0312 a0001c0081t0001g0017 a0003c0029t0001g0325 a0003c0029t0002g0011 a0003c0032t0001g0195 a0003c0032t0001g0199 a0003c0036t0001g0045 a0003c0063t0001g0052 a0004c0038t0001g0109 a0004c0040t0001g0114 a0004c0041t0001g0145 a0005c0048t0001g0169 a0007c0067t0001g0295 a0008c0072t0001g0053 a0009c0042t0001g0124 a0010c0056t0002g0010 a0011c0057t0001g0089 a0013c0066t0001g0174 a0014c0037t0001g0104 a0015c0055t0001g0078	252	328	0.7683	c.410 others(4): Show c.4105G>T	p.Ala others(7): Show p.Ala1369Ser	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	33/39	4174/4921	4105/4746	1369/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17397205	C C	T T	missense_variant missense_variant	MODERATE	HG02155.hp1 HG02155.hp1	a0006 a0006	a0006c0052 a0006c0052	a0006c0052t0001 a0006c0052t0001	a0006c0052t0001g0281 a0006c0052t0001g0281	1	328	0.0030	c.397 others(4): Show c.3976G>A	p.Glu others(7): Show p.Glu1326Lys	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	32/39	4045/4921	3976/4746	1326/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17414512	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0007 a0007	a0007c0067 a0007c0067	a0007c0067t0001 a0007c0067t0001	a0007c0067t0001g0295 a0007c0067t0001g0295	1	328	0.0030	c.239 others(4): Show c.2390G>A	p.Arg others(6): Show p.Arg797Gln	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	19/39	2459/4921	2390/4746	797/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17414608	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02970.hp1 HG02970.hp1	a0008 a0008	a0008c0072 a0008c0072	a0008c0072t0001 a0008c0072t0001	a0008c0072t0001g0053 a0008c0072t0001g0053	1	328	0.0030	c.229 others(4): Show c.2294A>T	p.Lys others(6): Show p.Lys765Met	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	19/39	2363/4921	2294/4746	765/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17428606	C C	T T	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0009 a0009	a0009c0042 a0009c0042	a0009c0042t0001 a0009c0042t0001	a0009c0042t0001g0124 a0009c0042t0001g0124	1	328	0.0030	c.188 others(4): Show c.1882G>A	p.Glu others(6): Show p.Glu628Lys	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	13/39	1951/4921	1882/4746	628/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17428614	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0048 a0005c0048	a0005c0048t0001 a0005c0048t0001	a0005c0048t0001g0169 a0005c0048t0001g0169	1	328	0.0030	c.187 others(4): Show c.1874C>T	p.Ala others(6): Show p.Ala625Val	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	13/39	1943/4921	1874/4746	625/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17428630	G G	A A	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0015 a0015	a0015c0055 a0015c0055	a0015c0055t0001 a0015c0055t0001	a0015c0055t0001g0078 a0015c0055t0001g0078	1	328	0.0030	c.185 others(4): Show c.1858C>T	p.Arg others(6): Show p.Arg620Cys	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	13/39	1927/4921	1858/4746	620/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17430953	C C	T T	missense_variant missense_variant	MODERATE	NA18946.hp2 NA18949.hp1 NA18983.hp1 others(1): Show NA18946.hp2 NA18949.hp1 NA18983.hp1 NA19080.hp2	a0004 a0012 a0004 a0012	a0004c0038 a0004c0040 a0004c0041 others(1): Show a0004c0038 a0004c0040 a0004c0041 a0012c0039	a0004c0038t0001 a0004c0040t0001 a0004c0041t0001 others(1): Show a0004c0038t0001 a0004c0040t0001 a0004c0041t0001 a0012c0039t0001	a0004c0038t0001g0109 a0004c0040t0001g0114 a0004c0041t0001g0145 others(1): Show a0004c0038t0001g0109 a0004c0040t0001g0114 a0004c0041t0001g0145 a0012c0039t0001g0108	4	328	0.0122	c.167 others(4): Show c.1678G>A	p.Val others(6): Show p.Val560Met	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	12/39	1747/4921	1678/4746	560/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17442795	G G	A A	missense_variant missense_variant	MODERATE	HG06807.hp1 HG06807.hp1	a0010 a0010	a0010c0056 a0010c0056	a0010c0056t0002 a0010c0056t0002	a0010c0056t0002g0010 a0010c0056t0002g0010	1	328	0.0030	c.155 others(4): Show c.1555C>T	p.Arg others(6): Show p.Arg519Cys	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	10/39	1624/4921	1555/4746	519/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17442840	G G	A A	missense_variant missense_variant	MODERATE	NA18941.hp1 NA18941.hp1	a0011 a0011	a0011c0057 a0011c0057	a0011c0057t0001 a0011c0057t0001	a0011c0057t0001g0089 a0011c0057t0001g0089	1	328	0.0030	c.151 others(4): Show c.1510C>T	p.Arg others(6): Show p.Arg504Cys	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	10/39	1579/4921	1510/4746	504/1581	chr11	TogoVar
ABCC8_chr11_17387885_17481845	17460616	A A	T T	missense_variant missense_variant	MODERATE	NA19065.hp2 NA19065.hp2	a0014 a0014	a0014c0037 a0014c0037	a0014c0037t0001 a0014c0037t0001	a0014c0037t0001g0104 a0014c0037t0001g0104	1	328	0.0030	c.883 others(3): Show c.883T>A	p.Phe others(6): Show p.Phe295Ile	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	6/39	952/4921	883/4746	295/1581	chr11	TogoVar
ABCC9_chr12_21792389_21946426	21842378	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp2 HG03041.hp1 HG02559.hp2 HG03041.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0039 a0002c0007t0001g0049 a0002c0007t0001g0039 a0002c0007t0001g0049	2	210	0.0095	c.340 others(4): Show c.3409G>A	p.Val others(7): Show p.Val1137Ile	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	29/40	3772/8668	3409/4650	1137/1549	chr12	TogoVar
ABCC9_chr12_21792389_21946426	21875660	G G	A A	missense_variant missense_variant	MODERATE	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0158 a0003c0011t0001g0158	1	210	0.0048	c.208 others(4): Show c.2086C>T	p.Pro others(6): Show p.Pro696Ser	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	17/40	2449/8668	2086/4650	696/1549	chr12	TogoVar
ABCC9_chr12_21792389_21946426	21912885	T T	A A	missense_variant missense_variant	MODERATE	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0195 a0004c0012t0001g0195	1	210	0.0048	c.998 others(3): Show c.998A>T	p.Asn others(6): Show p.Asn333Ile	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	8/40	1361/8668	998/4650	333/1549	chr12	TogoVar
ABCD1_chrX_153719856_153749755	153725661	G G	T T	missense_variant missense_variant	MODERATE	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0001 a0003c0010t0001g0001	1	283	0.0035	c.395 others(3): Show c.395G>T	p.Trp others(6): Show p.Trp132Leu	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	806/3669	395/2238	132/745	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153725702	T T	A A	missense_variant missense_variant	MODERATE	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	1	283	0.0035	c.436 others(3): Show c.436T>A	p.Phe others(6): Show p.Phe146Ile	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	847/3669	436/2238	146/745	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153726119	C C	T T	missense_variant missense_variant	MODERATE	NA19090.hp1 NA19090.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0008 a0004c0008t0003g0008	1	283	0.0035	c.853 others(3): Show c.853C>T	p.Arg others(6): Show p.Arg285Cys	ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/10	1264/3669	853/2238	285/745	chrX	TogoVar
ABCD2_chr12_39545033_39624803	39554040	C C	G G	missense_variant missense_variant	MODERATE	NA18939.hp2 NA18957.hp1 NA18939.hp2 NA18957.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0023 a0004c0004t0012g0023	2	338	0.0059	c.209 others(4): Show c.2095G>C	p.Glu others(6): Show p.Glu699Gln	ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	10/10	2283/6290	2095/2223	699/740	chr12	TogoVar
ABCD2_chr12_39545033_39624803	39619428	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp1 HG03516.hp2 HG01167.hp1 HG01169.hp1 HG03516.hp2	a0003 a0003	a0003c0005 a0003c0009 a0003c0005 a0003c0009	a0003c0005t0011 a0003c0009t0011 a0003c0005t0011 a0003c0009t0011	a0003c0005t0011g0031 a0003c0009t0011g0273 a0003c0005t0011g0031 a0003c0009t0011g0273	3	338	0.0089	c.188 others(3): Show c.188C>G	p.Thr others(5): Show p.Thr63Arg	ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	1/10	376/6290	188/2223	63/740	chr12	TogoVar
ABCD2_chr12_39545033_39624803	39619590	G G	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG01070.hp1 HG01071.hp1 others(8): Show HG00639.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp2 HG02056.hp1 NA18971.hp1 NA18988.hp2 NA19002.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0005 a0002c0002t0004g0032 a0002c0002t0004g0274 others(4): Show a0002c0002t0004g0005 a0002c0002t0004g0032 a0002c0002t0004g0274 a0002c0002t0004g0275 a0002c0002t0004g0276 a0002c0002t0004g0277 a0002c0002t0004g0278	11	338	0.0325	c.26C others(2): Show c.26C>G	p.Ala others(4): Show p.Ala9Gly	ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	1/10	214/6290	26/2223	9/740	chr12	TogoVar
ABCD4_chr14_74280269_74307934	74286717	C C	T T	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02280.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0122 a0010c0018t0001g0122	1	382	0.0026	c.173 others(4): Show c.1736G>A	p.Arg others(6): Show p.Arg579Gln	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	18/19	1758/3035	1736/1821	579/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74287857	T T	A A	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0063 a0009c0013t0001g0063	1	382	0.0026	c.158 others(4): Show c.1589A>T	p.Gln others(6): Show p.Gln530Leu	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	17/19	1611/3035	1589/1821	530/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74290035	G G	A A	missense_variant missense_variant	MODERATE	HG01934.hp1 HG01934.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0102 a0008c0019t0001g0102	1	382	0.0026	c.141 others(4): Show c.1411C>T	p.Arg others(6): Show p.Arg471Trp	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	13/19	1433/3035	1411/1821	471/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74292303	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(101): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00621.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03209.hp1 HG03490.hp1 HG03654.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18982.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA19000.hp1 NA19001.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19078.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0002 a0009 a0011 a0002 a0009 a0011	a0002c0002 a0002c0009 a0002c0012 others(2): Show a0002c0002 a0002c0009 a0002c0012 a0009c0013 a0011c0014	a0002c0002t0001 a0002c0002t0024 a0002c0009t0012 others(3): Show a0002c0002t0001 a0002c0002t0024 a0002c0009t0012 a0002c0012t0001 a0009c0013t0001 a0011c0014t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0013 others(53): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0204 a0002c0002t0024g0062 a0002c0009t0012g0185 a0002c0009t0012g0186 a0002c0012t0001g0070 a0009c0013t0001g0063 a0011c0014t0001g0067	104	382	0.2723	c.110 others(4): Show c.1102G>A	p.Glu others(6): Show p.Glu368Lys	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	11/19	1124/3035	1102/1821	368/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74292356	G G	C C	missense_variant missense_variant	MODERATE	HG00738.hp1 HG01516.hp2 HG01517.hp1 HG00738.hp1 HG01516.hp2 HG01517.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0022 a0005c0006t0001g0022	3	382	0.0079	c.104 others(4): Show c.1049C>G	p.Thr others(6): Show p.Thr350Arg	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	11/19	1071/3035	1049/1821	350/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74292362	C C	T T	missense_variant missense_variant	MODERATE	HG01081.hp2 HG02615.hp2 HG03471.hp1 others(1): Show HG01081.hp2 HG02615.hp2 HG03471.hp1 HG03540.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0012 a0004c0005t0005g0012	4	382	0.0105	c.104 others(4): Show c.1043G>A	p.Arg others(6): Show p.Arg348Gln	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	11/19	1065/3035	1043/1821	348/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74292363	G G	A A	missense_variant missense_variant	MODERATE	HG02129.hp1 HG02602.hp2 HG02129.hp1 HG02602.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0037 a0006c0010t0001g0037	2	382	0.0052	c.104 others(4): Show c.1042C>T	p.Arg others(6): Show p.Arg348Trp	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	11/19	1064/3035	1042/1821	348/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74292581	G G	A A	missense_variant missense_variant	MODERATE	HG02683.hp1 HG02683.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0067 a0011c0014t0001g0067	1	382	0.0026	c.998 others(3): Show c.998C>T	p.Thr others(6): Show p.Thr333Met	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	10/19	1020/3035	998/1821	333/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74292774	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(101): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00621.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03209.hp1 HG03490.hp1 HG03654.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18982.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA19000.hp1 NA19001.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19078.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0002 a0009 a0011 a0002 a0009 a0011	a0002c0002 a0002c0009 a0002c0012 others(2): Show a0002c0002 a0002c0009 a0002c0012 a0009c0013 a0011c0014	a0002c0002t0001 a0002c0002t0024 a0002c0009t0012 others(3): Show a0002c0002t0001 a0002c0002t0024 a0002c0009t0012 a0002c0012t0001 a0009c0013t0001 a0011c0014t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0013 others(53): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0204 a0002c0002t0024g0062 a0002c0009t0012g0185 a0002c0009t0012g0186 a0002c0012t0001g0070 a0009c0013t0001g0063 a0011c0014t0001g0067	104	381	0.2730	c.910 others(3): Show c.910G>A	p.Ala others(6): Show p.Ala304Thr	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	9/19	932/3035	910/1821	304/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74296361	C C	T T	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01109.hp2 HG01243.hp2 others(24): Show HG01081.hp2 HG01109.hp2 HG01243.hp2 HG01884.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA21309.hp2	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0003 a0004c0005 a0007c0007 a0003c0003 a0004c0005 a0007c0007	a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 others(11): Show a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 a0003c0003t0011 a0003c0003t0013 a0003c0003t0014 a0003c0003t0015 a0003c0003t0016 a0003c0003t0017 a0003c0003t0018 a0003c0003t0019 a0004c0005t0005 a0007c0007t0011 a0007c0007t0023	a0003c0003t0005g0026 a0003c0003t0005g0179 a0003c0003t0005g0180 others(18): Show a0003c0003t0005g0026 a0003c0003t0005g0179 a0003c0003t0005g0180 a0003c0003t0008g0151 a0003c0003t0008g0173 a0003c0003t0008g0175 a0003c0003t0008g0182 a0003c0003t0009g0040 a0003c0003t0009g0140 a0003c0003t0009g0141 a0003c0003t0011g0051 a0003c0003t0013g0184 a0003c0003t0014g0174 a0003c0003t0015g0181 a0003c0003t0016g0142 a0003c0003t0017g0171 a0003c0003t0018g0172 a0003c0003t0019g0176 a0004c0005t0005g0012 a0007c0007t0011g0048 a0007c0007t0023g0047	27	382	0.0707	c.514 others(3): Show c.514G>A	p.Val others(6): Show p.Val172Ile	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	5/19	536/3035	514/1821	172/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74297972	G G	A A	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01109.hp2 HG01243.hp2 others(24): Show HG01081.hp2 HG01109.hp2 HG01243.hp2 HG01884.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA21309.hp2	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0003 a0004c0005 a0007c0007 a0003c0003 a0004c0005 a0007c0007	a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 others(11): Show a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 a0003c0003t0011 a0003c0003t0013 a0003c0003t0014 a0003c0003t0015 a0003c0003t0016 a0003c0003t0017 a0003c0003t0018 a0003c0003t0019 a0004c0005t0005 a0007c0007t0011 a0007c0007t0023	a0003c0003t0005g0026 a0003c0003t0005g0179 a0003c0003t0005g0180 others(18): Show a0003c0003t0005g0026 a0003c0003t0005g0179 a0003c0003t0005g0180 a0003c0003t0008g0151 a0003c0003t0008g0173 a0003c0003t0008g0175 a0003c0003t0008g0182 a0003c0003t0009g0040 a0003c0003t0009g0140 a0003c0003t0009g0141 a0003c0003t0011g0051 a0003c0003t0013g0184 a0003c0003t0014g0174 a0003c0003t0015g0181 a0003c0003t0016g0142 a0003c0003t0017g0171 a0003c0003t0018g0172 a0003c0003t0019g0176 a0004c0005t0005g0012 a0007c0007t0011g0048 a0007c0007t0023g0047	27	382	0.0707	c.383 others(3): Show c.383C>T	p.Ala others(6): Show p.Ala128Val	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	4/19	405/3035	383/1821	128/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74299657	T T	C C	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01109.hp2 HG01243.hp2 others(24): Show HG01081.hp2 HG01109.hp2 HG01243.hp2 HG01884.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA21309.hp2	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0003 a0004c0005 a0007c0007 a0003c0003 a0004c0005 a0007c0007	a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 others(11): Show a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 a0003c0003t0011 a0003c0003t0013 a0003c0003t0014 a0003c0003t0015 a0003c0003t0016 a0003c0003t0017 a0003c0003t0018 a0003c0003t0019 a0004c0005t0005 a0007c0007t0011 a0007c0007t0023	a0003c0003t0005g0026 a0003c0003t0005g0179 a0003c0003t0005g0180 others(18): Show a0003c0003t0005g0026 a0003c0003t0005g0179 a0003c0003t0005g0180 a0003c0003t0008g0151 a0003c0003t0008g0173 a0003c0003t0008g0175 a0003c0003t0008g0182 a0003c0003t0009g0040 a0003c0003t0009g0140 a0003c0003t0009g0141 a0003c0003t0011g0051 a0003c0003t0013g0184 a0003c0003t0014g0174 a0003c0003t0015g0181 a0003c0003t0016g0142 a0003c0003t0017g0171 a0003c0003t0018g0172 a0003c0003t0019g0176 a0004c0005t0005g0012 a0007c0007t0011g0048 a0007c0007t0023g0047	27	382	0.0707	c.176 others(3): Show c.176A>G	p.Gln others(5): Show p.Gln59Arg	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	3/19	198/3035	176/1821	59/606	chr14	TogoVar
ABCD4_chr14_74280269_74307934	74302903	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03098.hp2 HG06807.hp2 HG02630.hp2 HG03098.hp2 HG06807.hp2	a0007 a0012 a0007 a0012	a0007c0007 a0012c0011 a0007c0007 a0012c0011	a0007c0007t0011 a0007c0007t0023 a0012c0011t0002 a0007c0007t0011 a0007c0007t0023 a0012c0011t0002	a0007c0007t0011g0048 a0007c0007t0023g0047 a0012c0011t0002g0049 a0007c0007t0011g0048 a0007c0007t0023g0047 a0012c0011t0002g0049	3	382	0.0079	c.10G others(2): Show c.10G>C	p.Ala others(4): Show p.Ala4Pro	ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	1/19	32/3035	10/1821	4/606	chr14	TogoVar
ABCE1_chr4_145093311_145134524	145123031	G G	A A	missense_variant missense_variant	MODERATE	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0001 a0002c0005t0001g0001	1	258	0.0039	c.127 others(4): Show c.1274G>A	p.Arg others(6): Show p.Arg425His	ABCE1	ENSG00000164163.11	transcript	ENST00000296577.9	protein_coding	14/18	1410/3887	1274/1800	425/599	chr4	TogoVar
ABCF1_chr6_30566442_30596522	30578077	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0014 a0008c0013t0001g0014	1	414	0.0024	c.218 others(3): Show c.218A>C	p.Gln others(5): Show p.Gln73Pro	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	4/25	264/3405	218/2538	73/845	chr6	TogoVar
ABCF1_chr6_30566442_30596522	30578353	G G	A A	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0050 a0009c0007t0001g0050	1	413	0.0024	c.349 others(3): Show c.349G>A	p.Ala others(6): Show p.Ala117Thr	ABCF1	ENSG00000204574.14	transcript	ENST00000326195.13	protein_coding	5/25	395/3405	349/2538	117/845	chr6	TogoVar

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