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	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ACOT11_chr1_54543228_54615329	54584623	TCTGTCCC others(3): Show TCTGTCCCCAC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02723.hp2 HG03139.hp2 others(1): Show HG02572.hp1 HG02723.hp2 HG03139.hp2 HG03516.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0006 a0002c0008t0006	a0002c0008t0006g0075 a0002c0008t0006g0195 a0002c0008t0006g0196 others(1): Show a0002c0008t0006g0075 a0002c0008t0006g0195 a0002c0008t0006g0196 a0002c0008t0006g0197	4	386	0.0104	-10	c.34- others(20): Show c.34-17_34-8delCCCCACCTGT		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15				INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54594551	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp2 HG00673.hp1 HG00735.hp1 others(89): Show HG00558.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01952.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18963.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0002c0011 a0002c0013 others(3): Show a0002c0002 a0002c0011 a0002c0013 a0002c0015 a0004c0004 a0007c0012	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(10): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0014 a0002c0011t0006 a0002c0013t0007 a0002c0015t0003 a0004c0004t0004 a0004c0004t0012 a0007c0012t0004	a0002c0002t0001g0186 a0002c0002t0003g0032 a0002c0002t0003g0054 others(88): Show a0002c0002t0001g0186 a0002c0002t0003g0032 a0002c0002t0003g0054 a0002c0002t0003g0065 a0002c0002t0003g0076 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0085 a0002c0002t0003g0133 a0002c0002t0003g0169 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0004g0019 a0002c0002t0004g0090 a0002c0002t0004g0091 a0002c0002t0004g0094 a0002c0002t0004g0096 a0002c0002t0004g0097 a0002c0002t0004g0101 a0002c0002t0004g0102 a0002c0002t0004g0103 a0002c0002t0004g0104 a0002c0002t0004g0105 a0002c0002t0004g0106 a0002c0002t0004g0107 a0002c0002t0004g0126 a0002c0002t0004g0155 a0002c0002t0004g0190 a0002c0002t0004g0216 a0002c0002t0004g0268 a0002c0002t0004g0331 a0002c0002t0004g0377 a0002c0002t0004g0379 a0002c0002t0006g0163 a0002c0002t0006g0164 a0002c0002t0006g0165 a0002c0002t0006g0194 a0002c0002t0006g0335 a0002c0002t0007g0086 a0002c0002t0007g0109 a0002c0002t0007g0110 a0002c0002t0007g0168 a0002c0002t0007g0180 a0002c0002t0007g0189 a0002c0002t0007g0245 a0002c0002t0009g0249 a0002c0002t0009g0250 a0002c0002t0009g0252 a0002c0002t0009g0256 a0002c0002t0014g0084 a0002c0011t0006g0185 a0002c0013t0007g0056 a0002c0013t0007g0067 a0002c0015t0003g0033 a0004c0004t0004g0004 a0004c0004t0004g0151 a0004c0004t0004g0152 a0004c0004t0004g0208 a0004c0004t0004g0215 a0004c0004t0004g0224 a0004c0004t0004g0257 a0004c0004t0004g0278 a0004c0004t0004g0302 a0004c0004t0004g0304 a0004c0004t0004g0305 a0004c0004t0004g0306 a0004c0004t0004g0307 a0004c0004t0004g0308 a0004c0004t0004g0309 a0004c0004t0004g0341 a0004c0004t0004g0345 a0004c0004t0004g0346 a0004c0004t0004g0349 a0004c0004t0004g0351 a0004c0004t0004g0352 a0004c0004t0004g0353 a0004c0004t0004g0354 a0004c0004t0004g0356 a0004c0004t0004g0357 a0004c0004t0004g0359 a0004c0004t0004g0360 a0004c0004t0004g0361 a0004c0004t0004g0376 a0004c0004t0004g0378 a0004c0004t0012g0099 a0007c0012t0004g0098 a0007c0012t0004g0297	92	386	0.2383	0	c.472 others(5): Show c.472-5G>A		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	5/15					chr1	TogoVar
ACOT11_chr1_54543228_54615329	54594689	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00558.hp2 HG00639.hp2 HG00673.hp1 others(113): Show HG00558.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01109.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01952.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18963.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0002c0008 a0002c0011 others(6): Show a0002c0002 a0002c0008 a0002c0011 a0002c0013 a0002c0015 a0002c0022 a0002c0025 a0004c0004 a0007c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(14): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0014 a0002c0008t0006 a0002c0011t0006 a0002c0013t0007 a0002c0015t0003 a0002c0022t0004 a0002c0025t0003 a0004c0004t0004 a0004c0004t0012 a0007c0012t0004	a0002c0002t0001g0186 a0002c0002t0002g0172 a0002c0002t0003g0001 others(111): Show a0002c0002t0001g0186 a0002c0002t0002g0172 a0002c0002t0003g0001 a0002c0002t0003g0032 a0002c0002t0003g0054 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0073 a0002c0002t0003g0076 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0082 a0002c0002t0003g0085 a0002c0002t0003g0133 a0002c0002t0003g0156 a0002c0002t0003g0157 a0002c0002t0003g0158 a0002c0002t0003g0162 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0004g0019 a0002c0002t0004g0090 a0002c0002t0004g0091 a0002c0002t0004g0094 a0002c0002t0004g0096 a0002c0002t0004g0097 a0002c0002t0004g0101 a0002c0002t0004g0102 a0002c0002t0004g0103 a0002c0002t0004g0104 a0002c0002t0004g0105 a0002c0002t0004g0106 a0002c0002t0004g0107 a0002c0002t0004g0126 a0002c0002t0004g0155 a0002c0002t0004g0190 a0002c0002t0004g0216 a0002c0002t0004g0268 a0002c0002t0004g0331 a0002c0002t0004g0334 a0002c0002t0004g0377 a0002c0002t0004g0379 a0002c0002t0006g0163 a0002c0002t0006g0164 a0002c0002t0006g0165 a0002c0002t0006g0194 a0002c0002t0006g0335 a0002c0002t0007g0069 a0002c0002t0007g0070 a0002c0002t0007g0086 a0002c0002t0007g0109 a0002c0002t0007g0110 a0002c0002t0007g0168 a0002c0002t0007g0180 a0002c0002t0007g0189 a0002c0002t0007g0245 a0002c0002t0009g0249 a0002c0002t0009g0250 a0002c0002t0009g0252 a0002c0002t0009g0256 a0002c0002t0014g0084 a0002c0008t0006g0075 a0002c0008t0006g0195 a0002c0008t0006g0196 a0002c0008t0006g0197 a0002c0011t0006g0087 a0002c0011t0006g0185 a0002c0013t0007g0056 a0002c0013t0007g0067 a0002c0015t0003g0033 a0002c0022t0004g0161 a0002c0025t0003g0055 a0004c0004t0004g0004 a0004c0004t0004g0151 a0004c0004t0004g0152 a0004c0004t0004g0208 a0004c0004t0004g0215 a0004c0004t0004g0224 a0004c0004t0004g0257 a0004c0004t0004g0278 a0004c0004t0004g0302 a0004c0004t0004g0304 a0004c0004t0004g0305 a0004c0004t0004g0306 a0004c0004t0004g0307 a0004c0004t0004g0308 a0004c0004t0004g0309 a0004c0004t0004g0341 a0004c0004t0004g0345 a0004c0004t0004g0346 a0004c0004t0004g0349 a0004c0004t0004g0351 a0004c0004t0004g0352 a0004c0004t0004g0353 a0004c0004t0004g0354 a0004c0004t0004g0356 a0004c0004t0004g0357 a0004c0004t0004g0359 a0004c0004t0004g0360 a0004c0004t0004g0361 a0004c0004t0004g0376 a0004c0004t0004g0378 a0004c0004t0012g0099 a0007c0012t0004g0098 a0007c0012t0004g0297	116	386	0.3005	0	c.605 others(3): Show c.605G>A	p.Gly others(6): Show p.Gly202Asp	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	6/16	687/3084	605/1785	202/594		chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599421	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02723.hp2 HG03139.hp2 others(1): Show HG02572.hp1 HG02723.hp2 HG03139.hp2 HG03516.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0006 a0002c0008t0006	a0002c0008t0006g0075 a0002c0008t0006g0195 a0002c0008t0006g0196 others(1): Show a0002c0008t0006g0075 a0002c0008t0006g0195 a0002c0008t0006g0196 a0002c0008t0006g0197	4	386	0.0104	0	c.884 others(5): Show c.884+6G>T		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	8/15					chr1	TogoVar
ACOT1_chr14_73532143_73548796	73541698	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp1 HG02895.hp1 HG02897.hp2 others(6): Show HG02717.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03453.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	9	152	0.0592	0	c.660 others(5): Show c.660+3G>T		ACOT1	ENSG00000184227.8	transcript	ENST00000311148.9	protein_coding	2/2					chr14	TogoVar
ACOT2_chr14_73564213_73580655	73573385	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	0	c.644 others(5): Show c.644-3A>G		ACOT2	ENSG00000119673.16	transcript	ENST00000238651.10	protein_coding	1/2					chr14	TogoVar
ACOT6_chr14_73607517_73624888	73617197	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(87): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01109.hp2 HG01168.hp1 HG01192.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01952.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18971.hp2 NA18972.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18993.hp2 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19075.hp1 NA19077.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19240.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0012 a0002c0015 others(2): Show a0002c0002 a0002c0012 a0002c0015 a0002c0016 a0005c0005	a0002c0002t0001 a0002c0002t0002 a0002c0012t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0012t0001 a0002c0015t0001 a0002c0016t0001 a0005c0005t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0006 others(30): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0014 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0083 a0002c0002t0002g0003 a0002c0012t0001g0002 a0002c0015t0001g0014 a0002c0016t0001g0082 a0005c0005t0001g0006	90	392	0.2296	0	c.660 others(5): Show c.660+5G>A		ACOT6	ENSG00000205669.4	transcript	ENST00000645972.2	protein_coding	2/2					chr14	TogoVar
ACOT7_chr1_6259272_6398767	6264693	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0193 a0001c0007t0004g0193	1	238	0.0042	0	c.101 others(4): Show c.1017C>T	p.Pro others(6): Show p.Pro339Pro	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	9/9	1385/1806	1017/1113	339/370		chr1	TogoVar
ACOT7_chr1_6259272_6398767	6281094	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01169.hp2 HG02258.hp2 others(7): Show HG01167.hp2 HG01169.hp2 HG02258.hp2 HG02615.hp1 HG02809.hp2 HG02886.hp2 HG03195.hp2 HG03225.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002	a0001c0001t0003g0154 a0001c0001t0004g0206 a0001c0001t0007g0102 others(7): Show a0001c0001t0003g0154 a0001c0001t0004g0206 a0001c0001t0007g0102 a0001c0001t0007g0120 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0009g0153 a0001c0001t0009g0155 a0001c0001t0009g0156 a0001c0002t0002g0118	10	238	0.0420	0	c.101 others(6): Show c.1014+8C>T		ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	8/8					chr1	TogoVar
ACOT8_chr20_45836721_45862392	45843524	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(36): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA19030.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 others(11): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0003c0004t0001g0035	39	420	0.0929	0	c.841 others(5): Show c.841+3G>A		ACOT8	ENSG00000101473.17	transcript	ENST00000217455.9	protein_coding	5/5					chr20	TogoVar
ACOT9_chrX_23696055_23748276	23705594	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00733.hp2 HG00738.hp1 HG02622.hp1 others(1): Show HG00733.hp2 HG00738.hp1 HG02622.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0039 a0002c0003t0001 a0002c0003t0039	a0002c0003t0001g0012 a0002c0003t0001g0290 a0002c0003t0039g0291 a0002c0003t0001g0012 a0002c0003t0001g0290 a0002c0003t0039g0291	4	307	0.0130	0	c.934 others(3): Show c.934G>C	p.Glu others(6): Show p.Glu312Gln	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	13/16	1066/4318	934/1347	312/448		chrX	TogoVar
ACOX2_chr3_58500136_58542190	58508886	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18747.hp1 NA19088.hp1 NA18747.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0087 a0001c0002t0001g0083 a0001c0002t0001g0087	2	362	0.0055	0	c.198 others(6): Show c.1983+7G>A		ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	14/14					chr3	TogoVar
ACOX3_chr4_8361282_8445723	8367085	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18939.hp1 NA18939.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0308 a0009c0012t0001g0308	1	378	0.0026	0	c.198 others(6): Show c.1984-5T>C		ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	17/17					chr4	TogoVar
ACOX3_chr4_8361282_8445723	8371000	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp2 HG02258.hp2 HG03669.hp1 HG01070.hp2 HG02258.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0061 a0002c0004t0001g0361 a0002c0004t0001g0362 a0001c0001t0001g0061 a0002c0004t0001g0361 a0002c0004t0001g0362	3	378	0.0079	0	c.189 others(6): Show c.1897-6C>T		ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	16/17					chr4	TogoVar
ACOX3_chr4_8361282_8445723	8381488	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG01070.hp2 HG01109.hp1 others(4): Show HG00735.hp1 HG01070.hp2 HG01109.hp1 HG02258.hp2 HG02615.hp2 HG03239.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0003 a0002c0004 a0002c0015 others(2): Show a0001c0003 a0002c0004 a0002c0015 a0003c0008 a0007c0020	a0001c0003t0003 a0002c0004t0001 a0002c0015t0002 others(3): Show a0001c0003t0003 a0002c0004t0001 a0002c0015t0002 a0003c0008t0001 a0003c0008t0003 a0007c0020t0009	a0001c0003t0003g0257 a0002c0004t0001g0361 a0002c0004t0001g0362 others(4): Show a0001c0003t0003g0257 a0002c0004t0001g0361 a0002c0004t0001g0362 a0002c0015t0002g0363 a0003c0008t0001g0230 a0003c0008t0003g0231 a0007c0020t0009g0364	7	378	0.0185	0	c.165 others(6): Show c.1653+4A>C		ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	14/17					chr4	TogoVar
ACOX3_chr4_8361282_8445723	8416371	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 NA20129.hp2 HG02451.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0265 a0001c0003t0001g0266 a0001c0003t0001g0265 a0001c0003t0001g0266	2	378	0.0053	0	c.144 others(5): Show c.144+7C>T		ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	2/17					chr4	TogoVar
ACOXL_chr2_110727573_111123548	110801654	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0130 a0011c0011t0001g0130	1	148	0.0068	0	c.550 others(3): Show c.550C>A	p.Leu others(6): Show p.Leu184Met	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	8/18	774/2699	550/1743	184/580		chr2	TogoVar
ACOXL_chr2_110727573_111123548	110908790	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02897.hp2 HG02976.hp1 HG03516.hp2 others(1): Show HG02897.hp2 HG02976.hp1 HG03516.hp2 NA19030.hp2	a0006 a0013 a0006 a0013	a0006c0006 a0013c0016 a0006c0006 a0013c0016	a0006c0006t0001 a0006c0006t0002 a0013c0016t0001 a0006c0006t0001 a0006c0006t0002 a0013c0016t0001	a0006c0006t0001g0001 a0006c0006t0001g0135 a0006c0006t0002g0146 others(1): Show a0006c0006t0001g0001 a0006c0006t0001g0135 a0006c0006t0002g0146 a0013c0016t0001g0057	4	148	0.0270	0	c.790 others(3): Show c.790C>T	p.Arg others(6): Show p.Arg264Trp	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	11/18	1014/2699	790/1743	264/580		chr2	TogoVar
ACOXL_chr2_110727573_111123548	110995965	GGTTCTTC others(47): Show GGTTCTTCAGCGGGGTTTGGTGGCCAGAATTTATTATAAGGTAAAGATAC ACTGT	G G	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01243.hp2 HG01891.hp1 HG02109.hp1 others(8): Show HG01243.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02886.hp1 HG02897.hp1 HG03225.hp2 HG06807.hp1 NA19043.hp1 NA21309.hp2	a0004 a0008 a0004 a0008	a0004c0005 a0008c0008 a0004c0005 a0008c0008	a0004c0005t0001 a0004c0005t0002 a0004c0005t0005 others(2): Show a0004c0005t0001 a0004c0005t0002 a0004c0005t0005 a0004c0005t0008 a0008c0008t0001	a0004c0005t0001g0069 a0004c0005t0001g0134 a0004c0005t0002g0003 others(8): Show a0004c0005t0001g0069 a0004c0005t0001g0134 a0004c0005t0002g0003 a0004c0005t0002g0019 a0004c0005t0002g0021 a0004c0005t0002g0124 a0004c0005t0002g0125 a0004c0005t0005g0045 a0004c0005t0008g0133 a0008c0008t0001g0014 a0008c0008t0001g0015	11	148	0.0743	-54	c.124 others(66): Show c.1246_1281+18delCTTCAGCGGGGTTTGGTGGCCAGAATTTATTAT AAGGTAAAGATACACTGTGTT	p.Leu others(13): Show p.Leu416_Lys427del	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	14/18	1470/2699	1246/1743	416/580	INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP1_chr2_259947_283283	265015	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG06807.hp2 NA19043.hp1 HG01884.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0034 a0001c0001t0002g0020 a0001c0001t0002g0034	3	388	0.0077	0	c.43+ others(4): Show c.43+8G>A		ACP1	ENSG00000143727.16	transcript	ENST00000272065.10	protein_coding	1/5					chr2	TogoVar
ACP2_chr11_47234302_47253814	47242725	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0060 a0004c0005t0001g0060	1	356	0.0028	0	c.113 others(4): Show c.1136C>T	p.Thr others(6): Show p.Thr379Ile	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding	10/11	1161/2111	1136/1272	379/423		chr11	TogoVar
ACP2_chr11_47234302_47253814	47243128	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0082 a0002c0008t0001g0082	1	356	0.0028	0	c.856 others(5): Show c.856-4G>A		ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding	8/10					chr11	TogoVar
ACP3_chr3_132312407_132363841	132350001	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00673.hp2 HG02056.hp1 HG00673.hp2 HG02056.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0237 a0003c0005t0001g0238 a0003c0005t0001g0237 a0003c0005t0001g0238	2	366	0.0055	0	c.863 others(3): Show c.863C>T	p.Ala others(6): Show p.Ala288Val	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	8/10	913/3174	863/1161	288/386		chr3	TogoVar
ACP4_chr19_50785415_50800219	50790698	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00544.hp1 HG00733.hp1 HG01167.hp2 others(48): Show HG00544.hp1 HG00733.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01884.hp2 HG01993.hp2 HG02071.hp2 HG02132.hp1 HG02135.hp2 HG02572.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp1 HG03540.hp2 NA18951.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18974.hp1 NA18990.hp1 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19085.hp1 NA19086.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0001c0008 a0005c0007 a0001c0003 a0001c0008 a0005c0007	a0001c0003t0001 a0001c0008t0001 a0005c0007t0001 a0001c0003t0001 a0001c0008t0001 a0005c0007t0001	a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0009 others(8): Show a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0014 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0008t0001g0005 a0005c0007t0001g0006	51	378	0.1349	0	c.216 others(3): Show c.216G>A	p.Thr others(5): Show p.Thr72Thr	ACP4	ENSG00000142513.6	transcript	ENST00000270593.2	protein_coding	2/11	216/1342	216/1281	72/426		chr19	TogoVar
ACP4_chr19_50785415_50800219	50792238	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	378	0.0026	0	c.550 others(5): Show c.550-4C>T		ACP4	ENSG00000142513.6	transcript	ENST00000270593.2	protein_coding	5/10					chr19	TogoVar
ACP4_chr19_50785415_50800219	50793881	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG01496.hp1 HG02738.hp1 others(3): Show HG00741.hp1 HG01496.hp1 HG02738.hp1 HG02738.hp2 HG03654.hp2 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0017 a0002c0002t0001g0018	6	378	0.0159	0	c.779 others(5): Show c.779-7T>C		ACP4	ENSG00000142513.6	transcript	ENST00000270593.2	protein_coding	7/10					chr19	TogoVar
ACP6_chr1_147637230_147675524	147659642	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18945.hp2 NA18953.hp1 NA18945.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	402	0.0050	0	c.348 others(5): Show c.348+5G>A		ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	2/9					chr1	TogoVar
ACP7_chr19_39079368_39116493	39100213	G G	GC GC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(99): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA19004.hp1 NA19057.hp2 NA19062.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19086.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0017 a0001c0018 a0001c0002 a0001c0017 a0001c0018	a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 others(9): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0012 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0027 a0001c0002t0031 a0001c0017t0002 a0001c0018t0002	a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0012 others(92): Show a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0148 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0178 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0187 a0001c0002t0005g0007 a0001c0002t0005g0042 a0001c0002t0005g0054 a0001c0002t0005g0062 a0001c0002t0005g0063 a0001c0002t0005g0069 a0001c0002t0005g0070 a0001c0002t0005g0080 a0001c0002t0005g0085 a0001c0002t0005g0088 a0001c0002t0005g0089 a0001c0002t0005g0094 a0001c0002t0005g0106 a0001c0002t0005g0107 a0001c0002t0005g0108 a0001c0002t0005g0125 a0001c0002t0005g0172 a0001c0002t0005g0219 a0001c0002t0005g0220 a0001c0002t0005g0226 a0001c0002t0005g0227 a0001c0002t0005g0229 a0001c0002t0005g0237 a0001c0002t0005g0239 a0001c0002t0005g0240 a0001c0002t0005g0288 a0001c0002t0005g0314 a0001c0002t0005g0324 a0001c0002t0005g0325 a0001c0002t0005g0326 a0001c0002t0005g0368 a0001c0002t0007g0225 a0001c0002t0007g0231 a0001c0002t0007g0232 a0001c0002t0007g0233 a0001c0002t0007g0234 a0001c0002t0007g0235 a0001c0002t0007g0236 a0001c0002t0007g0241 a0001c0002t0007g0242 a0001c0002t0012g0246 a0001c0002t0012g0330 a0001c0002t0012g0331 a0001c0002t0021g0158 a0001c0002t0021g0180 a0001c0002t0022g0179 a0001c0002t0022g0184 a0001c0002t0023g0238 a0001c0002t0024g0230 a0001c0002t0027g0177 a0001c0002t0031g0312 a0001c0017t0002g0176 a0001c0018t0002g0186	102	399	0.2556	1	c.506 others(6): Show c.506-9dupC		ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	4/12				INFO_REALIGN_3_PRIME	chr19	TogoVar
ACP7_chr19_39079368_39116493	39101214	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0235 a0001c0002t0007g0235	1	400	0.0025	0	c.973 others(5): Show c.973+7G>T		ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	9/12					chr19	TogoVar
ACP7_chr19_39079368_39116493	39101459	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02135.hp1 NA19064.hp1 HG02135.hp1 NA19064.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0076 a0001c0004t0004g0077 a0001c0004t0004g0076 a0001c0004t0004g0077	2	400	0.0050	0	c.104 others(6): Show c.1042-7T>C		ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	10/12					chr19	TogoVar
ACRBP_chr12_6633075_6652432	6638412	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0009 a0002c0003 others(4): Show a0001c0001 a0001c0009 a0002c0003 a0003c0004 a0005c0006 a0006c0011 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0002c0003t0001 a0003c0004t0001 a0005c0006t0001 a0006c0011t0001 a0007c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0002g0007 a0001c0001t0002g0039 a0001c0001t0002g0052 a0001c0001t0002g0080 a0001c0009t0001g0058 a0002c0003t0001g0008 a0002c0003t0001g0046 a0003c0004t0001g0011 a0003c0004t0001g0051 a0005c0006t0001g0026 a0006c0011t0001g0064 a0007c0007t0001g0037	268	420	0.6381	0	c.151 others(6): Show c.1510-8C>G		ACRBP	ENSG00000111644.8	transcript	ENST00000229243.7	protein_coding	9/9					chr12	TogoVar
ACRV1_chr11_125666522_125685847	125678297	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18747.hp2 NA18982.hp2 NA19085.hp1 NA18747.hp2 NA18982.hp2 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0022 a0003c0003t0001g0022	3	424	0.0071	0	c.53G others(2): Show c.53G>A	p.Gly others(5): Show p.Gly18Glu	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	2/4	120/1936	53/798	18/265		chr11	TogoVar
ACR_chr22_50733204_50750339	50744057	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(250): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18974.hp1 NA18980.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0001c0015 a0002c0002 others(5): Show a0001c0001 a0001c0015 a0002c0002 a0002c0009 a0002c0016 a0003c0003 a0005c0004 a0008c0010	a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 a0002c0009t0001 a0002c0016t0001 a0003c0003t0001 a0005c0004t0001 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(104): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0015t0001g0004 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0053 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0086 a0002c0002t0001g0102 a0002c0002t0001g0108 a0002c0002t0001g0139 a0002c0009t0001g0124 a0002c0016t0001g0073 a0003c0003t0001g0010 a0003c0003t0001g0012 a0003c0003t0001g0026 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0083 a0003c0003t0001g0134 a0003c0003t0001g0140 a0005c0004t0001g0001 a0005c0004t0001g0012 a0005c0004t0001g0120 a0008c0010t0001g0019	253	462	0.5476	0	c.566 others(5): Show c.566-4A>G		ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding	3/4					chr22	TogoVar
ACSBG2_chr19_6130667_6198091	6147442	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp2 HG01433.hp1 HG01891.hp1 others(19): Show HG00741.hp2 HG01433.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02559.hp1 HG02630.hp2 HG02897.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 NA18522.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp2 NA19066.hp2 NA19077.hp2 NA19085.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0010 a0013	a0001c0001 a0001c0020 a0003c0004 others(4): Show a0001c0001 a0001c0020 a0003c0004 a0003c0005 a0004c0019 a0010c0010 a0013c0016	a0001c0001t0001 a0001c0020t0001 a0003c0004t0002 others(4): Show a0001c0001t0001 a0001c0020t0001 a0003c0004t0002 a0003c0005t0001 a0004c0019t0002 a0010c0010t0002 a0013c0016t0001	a0001c0001t0001g0053 a0001c0020t0001g0051 a0003c0004t0002g0006 others(18): Show a0001c0001t0001g0053 a0001c0020t0001g0051 a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0002g0012 a0003c0004t0002g0013 a0003c0004t0002g0131 a0003c0005t0001g0001 a0003c0005t0001g0133 a0003c0005t0001g0198 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0244 a0004c0019t0002g0050 a0010c0010t0002g0052 a0010c0010t0002g0054 a0013c0016t0001g0014	22	260	0.0846	0	c.68- others(4): Show c.68-4G>C		ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	2/14					chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6161208	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG01891.hp1 HG02027.hp1 others(12): Show HG01884.hp2 HG01891.hp1 HG02027.hp1 HG02129.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02895.hp2 HG03209.hp1 HG03453.hp2 NA18612.hp2 NA18980.hp2 NA19000.hp1 NA19030.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0007 a0008 a0009 a0013	a0001c0001 a0003c0011 a0004c0003 others(4): Show a0001c0001 a0003c0011 a0004c0003 a0007c0008 a0008c0009 a0009c0013 a0013c0016	a0001c0001t0001 a0003c0011t0001 a0004c0003t0002 others(4): Show a0001c0001t0001 a0003c0011t0001 a0004c0003t0002 a0007c0008t0002 a0008c0009t0002 a0009c0013t0002 a0013c0016t0001	a0001c0001t0001g0015 a0003c0011t0001g0144 a0003c0011t0001g0160 others(12): Show a0001c0001t0001g0015 a0003c0011t0001g0144 a0003c0011t0001g0160 a0004c0003t0002g0134 a0004c0003t0002g0135 a0004c0003t0002g0136 a0004c0003t0002g0137 a0004c0003t0002g0138 a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0008c0009t0002g0147 a0008c0009t0002g0164 a0009c0013t0002g0114 a0013c0016t0001g0014	15	260	0.0577	0	c.508 others(5): Show c.508-7C>T		ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	5/14					chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6182745	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG03453.hp2 NA19030.hp2 HG01891.hp1 HG03453.hp2 NA19030.hp2	a0003 a0013 a0003 a0013	a0003c0011 a0013c0016 a0003c0011 a0013c0016	a0003c0011t0001 a0013c0016t0001 a0003c0011t0001 a0013c0016t0001	a0003c0011t0001g0144 a0003c0011t0001g0160 a0013c0016t0001g0014 a0003c0011t0001g0144 a0003c0011t0001g0160 a0013c0016t0001g0014	3	260	0.0115	0	c.907 others(5): Show c.907-6A>C		ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	8/14					chr19	TogoVar
ACSF2_chr17_50421218_50479837	50461373	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	318	0.0031	0	c.453 others(5): Show c.453+3G>A		ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	3/15					chr17	TogoVar
ACSF2_chr17_50421218_50479837	50472430	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(79): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02970.hp1 HG03239.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18956.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp2 NA18992.hp1 NA18995.hp2 NA19000.hp1 NA19009.hp1 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19074.hp1 NA19081.hp1 NA19087.hp1 NA20805.hp2	a0001 a0007 a0001 a0007	a0001c0003 a0007c0010 a0001c0003 a0007c0010	a0001c0003t0001 a0001c0003t0002 a0007c0010t0001 a0001c0003t0001 a0001c0003t0002 a0007c0010t0001	a0001c0003t0001g0004 a0001c0003t0001g0007 a0001c0003t0001g0008 others(66): Show a0001c0003t0001g0004 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0056 a0001c0003t0001g0070 a0001c0003t0001g0097 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0107 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0154 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0233 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0240 a0001c0003t0001g0243 a0001c0003t0001g0245 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0002g0004 a0007c0010t0001g0209	82	318	0.2579	0	c.132 others(4): Show c.1326C>G	p.Ala others(6): Show p.Ala442Ala	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	12/16	1370/2177	1326/1848	442/615		chr17	TogoVar
ACSF2_chr17_50421218_50479837	50474201	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0032 a0001c0009t0001g0032	1	318	0.0031	0	c.173 others(4): Show c.1731C>T	p.Ile others(6): Show p.Ile577Ile	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	15/16	1775/2177	1731/1848	577/615		chr17	TogoVar
ACSF3_chr16_89088852_89161233	89100658	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0007 a0008 a0011	a0001c0001 a0001c0005 a0001c0014 others(7): Show a0001c0001 a0001c0005 a0001c0014 a0001c0018 a0004c0004 a0005c0009 a0005c0017 a0007c0013 a0008c0016 a0011c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0049 a0001c0001t0058 a0001c0001t0059 a0001c0005t0001 a0001c0005t0009 a0001c0005t0010 a0001c0014t0023 a0001c0018t0010 a0004c0004t0003 a0004c0004t0021 a0004c0004t0024 a0004c0004t0029 a0004c0004t0035 a0004c0004t0036 a0005c0009t0010 a0005c0009t0014 a0005c0009t0032 a0005c0009t0037 a0005c0009t0051 a0005c0017t0033 a0007c0013t0001 a0008c0016t0002 a0011c0015t0009	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0089 others(203): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0158 a0001c0001t0001g0194 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0011g0012 a0001c0001t0011g0013 a0001c0001t0011g0014 a0001c0001t0011g0015 a0001c0001t0011g0038 a0001c0001t0011g0039 a0001c0001t0011g0267 a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0012g0047 a0001c0001t0012g0048 a0001c0001t0012g0110 a0001c0001t0012g0268 a0001c0001t0014g0105 a0001c0001t0015g0236 a0001c0001t0015g0237 a0001c0001t0016g0011 a0001c0001t0016g0246 a0001c0001t0017g0104 a0001c0001t0017g0107 a0001c0001t0022g0269 a0001c0001t0025g0011 a0001c0001t0026g0213 a0001c0001t0027g0238 a0001c0001t0028g0345 a0001c0001t0030g0262 a0001c0001t0031g0265 a0001c0001t0034g0242 a0001c0001t0049g0296 a0001c0001t0058g0313 a0001c0001t0059g0255 a0001c0005t0001g0010 a0001c0005t0001g0040 a0001c0005t0001g0041 a0001c0005t0001g0042 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0001g0243 a0001c0005t0001g0244 a0001c0005t0001g0293 a0001c0005t0001g0295 a0001c0005t0009g0196 a0001c0005t0009g0241 a0001c0005t0009g0245 a0001c0005t0009g0289 a0001c0005t0009g0290 a0001c0005t0009g0291 a0001c0005t0009g0301 a0001c0005t0009g0302 a0001c0005t0009g0320 a0001c0005t0009g0321 a0001c0005t0009g0341 a0001c0005t0010g0304 a0001c0005t0010g0305 a0001c0005t0010g0306 a0001c0005t0010g0307 a0001c0005t0010g0314 a0001c0005t0010g0315 a0001c0005t0010g0316 a0001c0005t0010g0319 a0001c0014t0023g0312 a0001c0018t0010g0256 a0004c0004t0003g0001 a0004c0004t0003g0019 a0004c0004t0003g0212 a0004c0004t0003g0218 a0004c0004t0003g0224 a0004c0004t0003g0225 a0004c0004t0003g0226 a0004c0004t0003g0228 a0004c0004t0003g0229 a0004c0004t0003g0297 a0004c0004t0003g0299 a0004c0004t0003g0300 a0004c0004t0003g0323 a0004c0004t0003g0324 a0004c0004t0003g0325 a0004c0004t0003g0326 a0004c0004t0003g0327 a0004c0004t0003g0328 a0004c0004t0003g0330 a0004c0004t0003g0331 a0004c0004t0003g0332 a0004c0004t0003g0333 a0004c0004t0003g0335 a0004c0004t0003g0336 a0004c0004t0003g0337 a0004c0004t0021g0108 a0004c0004t0024g0329 a0004c0004t0029g0227 a0004c0004t0035g0018 a0004c0004t0036g0334 a0005c0009t0010g0303 a0005c0009t0014g0253 a0005c0009t0032g0348 a0005c0009t0037g0037 a0005c0009t0051g0214 a0005c0017t0033g0347 a0007c0013t0001g0275 a0007c0013t0001g0285 a0008c0016t0002g0167 a0011c0015t0009g0322	221	366	0.6038	0	c.-20 others(5): Show c.-20-4C>G		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	2/10					chr16	TogoVar
ACSF3_chr16_89088852_89161233	89100664	C C	T T	splice_region_variant splice_region_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0296 a0001c0001t0049g0296	1	366	0.0027	0	c.-18 others(3): Show c.-18C>T		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	3/11					chr16	TogoVar
ACSF3_chr16_89088852_89161233	89114491	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp2 HG03486.hp1 NA19240.hp1 others(1): Show HG03453.hp2 HG03486.hp1 NA19240.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 others(1): Show a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 a0002c0003t0005g0080	4	366	0.0109	0	c.112 others(6): Show c.1126+4C>T		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	6/10					chr16	TogoVar
ACSF3_chr16_89088852_89161233	89120796	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18939.hp2 NA18970.hp2 NA19057.hp2 NA18939.hp2 NA18970.hp2 NA19057.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0010 a0001c0005t0001g0295 a0001c0005t0001g0010 a0001c0005t0001g0295	3	366	0.0082	0	c.112 others(6): Show c.1127-5T>C		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	6/10					chr16	TogoVar
ACSF3_chr16_89088852_89161233	89145261	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp2 HG03486.hp1 NA19240.hp1 others(1): Show HG03453.hp2 HG03486.hp1 NA19240.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 others(1): Show a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 a0002c0003t0005g0080	4	366	0.0109	0	c.136 others(6): Show c.1367-6C>T		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10					chr16	TogoVar
ACSL1_chr4_184750595_184830968	184766764	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0264 a0001c0003t0003g0264	1	390	0.0026	0	c.112 others(6): Show c.1129-8C>T		ACSL1	ENSG00000151726.16	transcript	ENST00000281455.7	protein_coding	12/20					chr4	TogoVar
ACSL1_chr4_184750595_184830968	184788737	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01167.hp2 HG01169.hp1 others(5): Show HG01069.hp1 HG01167.hp2 HG01169.hp1 HG01433.hp2 HG02451.hp2 HG02970.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0351 others(5): Show a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357	8	390	0.0205	0	c.196 others(5): Show c.196-6T>C		ACSL1	ENSG00000151726.16	transcript	ENST00000281455.7	protein_coding	2/20					chr4	TogoVar
ACSL4_chrX_109636335_109738257	109663409	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0171 a0001c0001t0007g0171	1	220	0.0045	0	c.139 others(6): Show c.1391-7T>C		ACSL4	ENSG00000068366.21	transcript	ENST00000672401.1	protein_coding	12/15					chrX	TogoVar
ACSL5_chr10_112369116_112433376	112426862	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	362	0.0028	0	c.191 others(6): Show c.1911+3G>A		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	20/20					chr10	TogoVar
ACSL5_chr10_112369116_112433376	112426864	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	362	0.0028	0	c.191 others(6): Show c.1911+5G>A		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	20/20					chr10	TogoVar
ACSL5_chr10_112369116_112433376	112426865	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	362	0.0028	0	c.191 others(6): Show c.1911+6T>A		ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	20/20					chr10	TogoVar

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