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	distance	status	chr	external
ACAP2_chr3_195269745_195448020	195372987	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01169.hp2 others(2): Show HG00323.hp1 HG00738.hp1 HG01169.hp2 HG01975.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014	a0001c0001t0003g0117 a0001c0001t0003g0136 a0001c0001t0008g0132 others(2): Show a0001c0001t0003g0117 a0001c0001t0003g0136 a0001c0001t0008g0132 a0001c0001t0012g0114 a0001c0001t0014g0012	5	175	0.0286	12	c.285 others(29): Show c.285+8010_285+8021dupTTTTTTTTTTTT		ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22						chr3	TogoVar
ACAP2_chr3_195269745_195448020	195377138	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01074.hp2 others(12): Show HG00438.hp1 HG00642.hp1 HG01074.hp2 HG01169.hp1 HG01361.hp2 HG02572.hp2 HG02965.hp1 HG03834.hp1 NA18943.hp1 NA18949.hp2 NA18955.hp1 NA19002.hp1 NA19006.hp2 NA19063.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0023	a0001c0001t0001g0007 a0001c0001t0001g0216 a0001c0001t0001g0243 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0216 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0291 a0001c0001t0002g0265 a0001c0001t0002g0304 a0001c0001t0010g0225 a0001c0001t0010g0297 a0001c0001t0023g0264	15	107	0.1402	12	c.285 others(29): Show c.285+3859_285+3870dupAAAAAAAAAAAA		ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22						chr3	TogoVar
ACAP2_chr3_195269745_195448020	195398637	C C	CTAAATAA others(5): Show CTAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02523.hp2 HG02735.hp2 others(12): Show HG00621.hp1 HG02523.hp2 HG02735.hp2 HG02738.hp1 HG02922.hp2 HG03139.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp1 NA18747.hp2 NA18952.hp1 NA18989.hp1 NA18994.hp1 NA19060.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0004	a0001c0001t0001g0211 a0001c0001t0001g0229 a0001c0001t0001g0237 others(12): Show a0001c0001t0001g0211 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0299 a0001c0001t0003g0108 a0001c0001t0005g0059 a0001c0001t0007g0315 a0001c0002t0004g0041 a0001c0002t0004g0054 a0001c0002t0004g0205	15	125	0.1200	12	c.54- others(27): Show c.54-6502_54-6491dupTTTATTTATTTA		ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	1/22						chr3	TogoVar
ACAP2_chr3_195269745_195448020	195424261	G G	GTGTGTGT others(5): Show GTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0322 a0001c0001t0020g0322	1	312	0.0032	12	c.53+ others(29): Show c.53+18533_53+18534insTATACACACACA		ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	1/22						chr3	TogoVar
ACAP3_chr1_1287391_1312930	1308546	C C	CGGGGGGG others(5): Show CGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG02071.hp1 HG04228.hp1 HG01358.hp2 HG02071.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0032 a0001c0001t0002g0149 a0001c0001t0010g0147 a0001c0001t0001g0032 a0001c0001t0002g0149 a0001c0001t0010g0147	3	133	0.0226	12	c.-73 others(21): Show c.-732_-731insCCCCCCCCCCCC		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					617		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1312198	T T	TGGGGGGG others(5): Show TGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0108 a0001c0016t0002g0108	1	55	0.0182	12	c.-43 others(23): Show c.-4384_-4383insCCCCCCCCCCCC		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					4269		chr1	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA18977.hp2 HG01069.hp1 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0224 a0002c0002t0002g0233 a0002c0002t0002g0224 a0002c0002t0002g0233	2	14	0.1429	12	c.73- others(25): Show c.73-546_73-535dupTTTTTTTTTTTT		ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACAT1_chr11_108116567_108152603	108151631	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0192 a0001c0003t0003g0192	1	70	0.0143	12	c.42 others(23): Show c.4241_*4242insAAAAAAAAAAAA		ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding					4029		chr11	TogoVar
ACAT1_chr11_108116567_108152603	108151665	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0168 a0001c0003t0003g0168	1	384	0.0026	12	c.42 others(23): Show c.4275_*4276insAAAAAAAAAAAT		ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding					4063		chr11	TogoVar
ACBD3_chr1_226139679_226191741	226149529	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0186 a0002c0002t0008g0186	1	52	0.0192	12	c.137 others(31): Show c.1376-2720_1376-2709dupAAAAAAAAAAAA		ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	7/7						chr1	TogoVar
ACBD3_chr1_226139679_226191741	226172155	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG01074.hp2 others(25): Show HG00544.hp2 HG00673.hp1 HG01074.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01952.hp1 HG01978.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02293.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp2 NA18943.hp1 NA18950.hp1 NA18963.hp1 NA18989.hp2 NA19002.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp2 NA19062.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0011 a0007c0007 a0002c0002 a0002c0011 a0007c0007	a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 others(2): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0002c0011t0001 a0007c0007t0001	a0002c0002t0001g0019 a0002c0002t0001g0133 a0002c0002t0001g0139 others(24): Show a0002c0002t0001g0019 a0002c0002t0001g0133 a0002c0002t0001g0139 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0208 a0002c0002t0001g0217 a0002c0002t0001g0222 a0002c0002t0001g0248 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0112 a0002c0002t0003g0117 a0002c0002t0008g0186 a0002c0002t0008g0187 a0002c0011t0001g0359 a0007c0007t0001g0132	28	98	0.2857	12	c.287 others(29): Show c.287-6167_287-6156dupTTTTTTTTTTTT		ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	1/7						chr1	TogoVar
ACBD5_chr10_27190214_27245797	27194612	A A	AAATAATA others(5): Show AAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG02055.hp2 HG02572.hp1 others(17): Show HG01928.hp1 HG02055.hp2 HG02572.hp1 HG02615.hp1 HG02895.hp2 HG02896.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp1 NA18943.hp1 NA18962.hp1 NA18970.hp2 NA18998.hp1 NA19043.hp1 NA19065.hp1 NA19079.hp1 NA19081.hp2 NA19085.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0019 a0001c0005t0002 a0001c0005t0008 a0002c0004t0005	a0001c0001t0001g0283 a0001c0001t0002g0100 a0001c0002t0001g0211 others(15): Show a0001c0001t0001g0283 a0001c0001t0002g0100 a0001c0002t0001g0211 a0001c0003t0001g0003 a0001c0003t0001g0005 a0001c0003t0001g0165 a0001c0003t0001g0286 a0001c0003t0001g0302 a0001c0003t0019g0166 a0001c0005t0002g0119 a0001c0005t0002g0123 a0001c0005t0002g0189 a0001c0005t0002g0202 a0001c0005t0008g0168 a0001c0005t0008g0170 a0001c0005t0008g0171 a0002c0004t0005g0183 a0002c0004t0005g0191	20	65	0.3077	12	c.28 others(23): Show c.2806_*2817dupATTATTATTATT		ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding					601		chr10	TogoVar
ACBD5_chr10_27190214_27245797	27207286	C C	CATAATAA others(5): Show CATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00597.hp1 others(27): Show HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00673.hp1 HG02015.hp2 HG02055.hp2 HG02109.hp2 HG02135.hp1 HG02280.hp1 HG02523.hp2 HG02615.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp2 NA18939.hp1 NA18942.hp2 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18964.hp1 NA18970.hp1 NA18989.hp1 NA18991.hp1 NA19000.hp2 NA19007.hp1 NA19012.hp1 NA19043.hp1 NA19058.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0006 a0001c0005 a0003c0006	a0001c0005t0002 a0003c0006t0004 a0003c0006t0018 a0001c0005t0002 a0003c0006t0004 a0003c0006t0018	a0001c0005t0002g0119 a0001c0005t0002g0122 a0001c0005t0002g0123 others(23): Show a0001c0005t0002g0119 a0001c0005t0002g0122 a0001c0005t0002g0123 a0001c0005t0002g0124 a0001c0005t0002g0125 a0001c0005t0002g0156 a0001c0005t0002g0189 a0001c0005t0002g0193 a0001c0005t0002g0202 a0003c0006t0004g0002 a0003c0006t0004g0126 a0003c0006t0004g0127 a0003c0006t0004g0128 a0003c0006t0004g0129 a0003c0006t0004g0132 a0003c0006t0004g0133 a0003c0006t0004g0134 a0003c0006t0004g0135 a0003c0006t0004g0136 a0003c0006t0004g0137 a0003c0006t0004g0139 a0003c0006t0004g0140 a0003c0006t0004g0141 a0003c0006t0004g0142 a0003c0006t0004g0143 a0003c0006t0018g0138	30	192	0.1563	12	c.140 others(29): Show c.1404+948_1404+959dupTATTATTATTAT		ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	10/12						chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(5): Show ATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0023 a0001c0002t0012g0023	1	251	0.0040	12	c.375 others(29): Show c.375+2932_375+2933insAAAATATATATA		ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12						chr10	TogoVar
ACBD5_chr10_27190214_27245797	27243112	A A	ACACACAC others(5): Show ACACACACACGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0289 a0001c0003t0001g0289	1	127	0.0079	12	c.-24 others(23): Show c.-2425_-2424insCGCGTGTGTGTG		ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding					2316		chr10	TogoVar
ACBD6_chr1_180283230_180507577	180477978	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG01106.hp2 others(14): Show HG00738.hp2 HG01070.hp1 HG01106.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp1 HG02886.hp2 HG03130.hp2 HG03831.hp2 HG03942.hp2 NA18954.hp1 NA18991.hp2 NA19030.hp2 NA19043.hp2 NA19074.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0002g0283 a0001c0001t0002g0307 a0001c0001t0002g0318 others(14): Show a0001c0001t0002g0283 a0001c0001t0002g0307 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281	17	291	0.0584	12	c.384 others(31): Show c.384+14279_384+14290dupTTTTTTTTTTTT		ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	3/7						chr1	TogoVar
ACCS_chr11_44061270_44089237	44072148	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG03041.hp2 others(12): Show HG02109.hp1 HG02559.hp1 HG03041.hp2 HG03453.hp2 HG03471.hp1 HG06807.hp1 NA18522.hp1 NA18939.hp1 NA18949.hp2 NA18980.hp1 NA18997.hp2 NA19002.hp2 NA19010.hp1 NA19085.hp1 NA20129.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0013	a0002c0003 a0002c0004 a0003c0002 others(2): Show a0002c0003 a0002c0004 a0003c0002 a0004c0005 a0013c0012	a0002c0003t0001 a0002c0004t0001 a0003c0002t0001 others(2): Show a0002c0003t0001 a0002c0004t0001 a0003c0002t0001 a0004c0005t0001 a0013c0012t0001	a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0113 others(11): Show a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0004t0001g0158 a0003c0002t0001g0036 a0003c0002t0001g0095 a0003c0002t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0103 a0013c0012t0001g0227	15	229	0.0655	12	c.348 others(27): Show c.348+850_348+861dupTTTATTTATTTA		ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCS_chr11_44061270_44089237	44084612	A A	ACAACAAC others(5): Show ACAACAACAACGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	436	0.0023	12	c.82 others(21): Show c.820_*821insCAACAACAACGG		ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding					376		chr11	TogoVar
ACE2_chrX_15556033_15605960	15593391	A A	AAAGGAAG others(5): Show AAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19072.hp1 NA19060.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	25	0.0800	12	c.346 others(29): Show c.346-1081_346-1070dupCCTTCCTTCCTT		ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	2/17						chrX	TogoVar
ACER1_chr19_6301142_6338612	6311646	A A	AAGGAGAA others(5): Show AAGGAGAAGGAGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	391	0.0026	12	c.350 others(27): Show c.350+491_350+502dupCCTCCTTCTCCT		ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	3/5						chr19	TogoVar
ACER1_chr19_6301142_6338612	6314872	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02723.hp2 others(2): Show HG01891.hp1 HG02257.hp2 HG02723.hp2 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0180 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0344	5	238	0.0210	12	c.94- others(27): Show c.94-2385_94-2374dupTAAATAAATAAA		ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5						chr19	TogoVar
ACER1_chr19_6301142_6338612	6324860	A A	AAAGGAAG others(5): Show AAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG01175.hp1 others(23): Show HG00099.hp2 HG00621.hp1 HG01175.hp1 HG01175.hp2 HG01943.hp1 HG01978.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02602.hp2 HG02886.hp1 HG03490.hp2 HG03492.hp1 NA18941.hp1 NA18948.hp2 NA18964.hp1 NA18970.hp2 NA18974.hp2 NA18982.hp1 NA18983.hp1 NA19055.hp1 NA19055.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0004c0007t0001	a0001c0001t0001g0020 a0001c0001t0001g0166 a0001c0001t0001g0193 others(23): Show a0001c0001t0001g0020 a0001c0001t0001g0166 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0240 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0006t0001g0330 a0002c0002t0001g0007 a0002c0002t0001g0213 a0002c0002t0001g0237 a0002c0002t0001g0274 a0002c0002t0001g0298 a0004c0007t0001g0026	26	101	0.2574	12	c.93+ others(27): Show c.93+8587_93+8598dupCCTTCCTTCCTT		ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5						chr19	TogoVar
ACER1_chr19_6301142_6338612	6324861	A A	AAGGAAGG others(5): Show AAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp2 HG02486.hp1 others(2): Show HG01433.hp2 HG02109.hp2 HG02486.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 others(2): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0004t0001g0383	5	392	0.0128	12	c.93+ others(27): Show c.93+8597_93+8598insCCCTCCCTTCCT		ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5						chr19	TogoVar
ACER1_chr19_6301142_6338612	6335906	C C	CTTTCTTT others(5): Show CTTTCTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0339 a0002c0002t0001g0339	1	367	0.0027	12	c.-23 others(23): Show c.-2356_-2355insAAAAAAAAGAAA		ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding					2295		chr19	TogoVar
ACER1_chr19_6301142_6338612	6335906	C C	CTTTTCTT others(5): Show CTTTTCTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01884.hp2 HG02004.hp2 others(8): Show HG00733.hp2 HG01884.hp2 HG02004.hp2 HG02280.hp1 HG02451.hp2 HG02717.hp1 HG02818.hp2 HG03471.hp2 NA19030.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 others(8): Show a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0008t0001g0351	11	377	0.0292	12	c.-23 others(23): Show c.-2356_-2355insAAAAAAAGAAAA		ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding					2295		chr19	TogoVar
ACER3_chr11_76855918_77031797	76859314	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0101 a0001c0003t0011g0101	1	154	0.0065	12	c.-16 others(23): Show c.-1663_-1662insAAAAAAAAAAAA		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding					1603		chr11	TogoVar
ACER3_chr11_76855918_77031797	76859890	T T	TTTTATTT others(5): Show TTTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp2 others(58): Show HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00609.hp2 HG01071.hp2 HG01167.hp2 HG01192.hp1 HG01256.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG03927.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18945.hp1 NA18946.hp1 NA18960.hp1 NA18963.hp1 NA18985.hp1 NA18994.hp2 NA19000.hp1 NA19003.hp2 NA19009.hp1 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19084.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0004	a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 others(40): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0092 a0001c0003t0011 a0001c0003t0016 a0001c0003t0026 a0001c0003t0027 a0001c0003t0129 a0001c0003t0131 a0001c0003t0132 a0001c0003t0133 a0001c0003t0134 a0001c0003t0138 a0001c0003t0140 a0001c0003t0142 a0001c0003t0144 a0001c0003t0150 a0001c0005t0153 a0002c0002t0001 a0002c0002t0009 a0002c0002t0021 a0002c0002t0024 a0002c0002t0025 a0002c0002t0039 a0002c0002t0042 a0002c0002t0043 a0002c0002t0045 a0002c0002t0046 a0002c0002t0098 a0002c0002t0099 a0002c0002t0104 a0002c0002t0108 a0002c0002t0109 a0002c0002t0110 a0002c0002t0113 a0002c0002t0120 a0002c0004t0006 a0002c0004t0015 a0002c0004t0090	a0001c0001t0002g0191 a0001c0001t0013g0016 a0001c0001t0013g0019 others(58): Show a0001c0001t0002g0191 a0001c0001t0013g0016 a0001c0001t0013g0019 a0001c0001t0014g0199 a0001c0001t0029g0202 a0001c0001t0030g0027 a0001c0001t0035g0069 a0001c0001t0092g0076 a0001c0003t0011g0101 a0001c0003t0011g0106 a0001c0003t0011g0107 a0001c0003t0016g0109 a0001c0003t0026g0114 a0001c0003t0026g0115 a0001c0003t0026g0120 a0001c0003t0027g0117 a0001c0003t0027g0119 a0001c0003t0129g0346 a0001c0003t0131g0343 a0001c0003t0132g0340 a0001c0003t0133g0345 a0001c0003t0134g0344 a0001c0003t0138g0122 a0001c0003t0140g0332 a0001c0003t0142g0334 a0001c0003t0144g0113 a0001c0003t0150g0110 a0001c0005t0153g0204 a0002c0002t0001g0242 a0002c0002t0001g0252 a0002c0002t0001g0264 a0002c0002t0001g0274 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0001g0318 a0002c0002t0009g0262 a0002c0002t0021g0008 a0002c0002t0021g0010 a0002c0002t0024g0254 a0002c0002t0024g0255 a0002c0002t0024g0263 a0002c0002t0025g0220 a0002c0002t0039g0275 a0002c0002t0042g0303 a0002c0002t0043g0322 a0002c0002t0045g0011 a0002c0002t0045g0013 a0002c0002t0046g0330 a0002c0002t0046g0331 a0002c0002t0098g0315 a0002c0002t0099g0223 a0002c0002t0104g0265 a0002c0002t0108g0294 a0002c0002t0109g0260 a0002c0002t0110g0300 a0002c0002t0113g0320 a0002c0002t0120g0219 a0002c0004t0006g0305 a0002c0004t0015g0230 a0002c0004t0015g0251 a0002c0004t0090g0314	61	95	0.6421	12	c.-10 others(23): Show c.-1087_-1086insTTTATTTATTTA		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding					1027		chr11	TogoVar
ACER3_chr11_76855918_77031797	76868383	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	291	0.0034	12	c.103 others(29): Show c.103+7305_103+7306insGTGTGTGTGTGT		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	76875107	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG01943.hp1 others(5): Show HG00597.hp2 HG00621.hp2 HG01943.hp1 HG02300.hp2 NA18952.hp2 NA18964.hp1 NA19000.hp2 NA19068.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0015 a0002c0004t0088 a0002c0004t0006 a0002c0004t0015 a0002c0004t0088	a0002c0004t0006g0304 a0002c0004t0006g0307 a0002c0004t0006g0308 others(5): Show a0002c0004t0006g0304 a0002c0004t0006g0307 a0002c0004t0006g0308 a0002c0004t0006g0311 a0002c0004t0015g0309 a0002c0004t0015g0310 a0002c0004t0015g0324 a0002c0004t0088g0250	8	93	0.0860	12	c.103 others(31): Show c.103+14043_103+14054dupTTTTTTTTTTTT		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	76933173	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00642.hp1 others(44): Show HG00423.hp2 HG00438.hp1 HG00642.hp1 HG01358.hp1 HG01516.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02683.hp1 HG03017.hp1 HG03239.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG04228.hp1 NA18942.hp2 NA18943.hp2 NA18948.hp2 NA18957.hp1 NA18960.hp2 NA18973.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18989.hp2 NA18994.hp1 NA19001.hp1 NA19001.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(17): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0036 a0001c0001t0055 a0001c0001t0060 a0001c0001t0062 a0001c0001t0066 a0001c0001t0067 a0001c0001t0071 a0001c0001t0085 a0001c0001t0094	a0001c0001t0003g0023 a0001c0001t0003g0032 a0001c0001t0003g0041 others(44): Show a0001c0001t0003g0023 a0001c0001t0003g0032 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0048 a0001c0001t0003g0052 a0001c0001t0004g0040 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0058 a0001c0001t0004g0074 a0001c0001t0004g0078 a0001c0001t0004g0089 a0001c0001t0005g0130 a0001c0001t0005g0150 a0001c0001t0005g0157 a0001c0001t0005g0165 a0001c0001t0005g0167 a0001c0001t0005g0178 a0001c0001t0005g0183 a0001c0001t0005g0190 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0007g0171 a0001c0001t0007g0185 a0001c0001t0008g0037 a0001c0001t0008g0091 a0001c0001t0013g0136 a0001c0001t0013g0137 a0001c0001t0013g0159 a0001c0001t0022g0077 a0001c0001t0022g0079 a0001c0001t0023g0064 a0001c0001t0030g0027 a0001c0001t0031g0044 a0001c0001t0033g0056 a0001c0001t0036g0022 a0001c0001t0055g0141 a0001c0001t0060g0170 a0001c0001t0062g0036 a0001c0001t0066g0018 a0001c0001t0067g0060 a0001c0001t0071g0158 a0001c0001t0085g0028 a0001c0001t0094g0082	47	172	0.2733	12	c.214 others(29): Show c.214+6515_214+6526dupATATATATATAT		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	76948211	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0137 a0001c0001t0013g0137	1	62	0.0161	12	c.215 others(31): Show c.215-10726_215-10715dupGTGTGTGTGTGT		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	76996398	C C	CATTATTA others(5): Show CATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0330 a0002c0002t0046g0331 a0002c0002t0046g0330 a0002c0002t0046g0331	2	104	0.0192	12	c.439 others(29): Show c.439-2343_439-2332dupATTATTATTATT		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77010163	A A	AAATAATA others(5): Show AAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02055.hp1 HG02056.hp1 others(4): Show HG00280.hp1 HG02055.hp1 HG02056.hp1 HG03041.hp2 HG03471.hp2 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0001t0014 a0001c0001t0029 others(3): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0029 a0001c0001t0037 a0001c0001t0089 a0001c0003t0011	a0001c0001t0007g0153 a0001c0001t0014g0209 a0001c0001t0029g0203 others(4): Show a0001c0001t0007g0153 a0001c0001t0014g0209 a0001c0001t0029g0203 a0001c0001t0037g0099 a0001c0001t0037g0128 a0001c0001t0089g0127 a0001c0003t0011g0107	7	92	0.0761	12	c.498 others(29): Show c.498-4829_498-4818dupTAATAATAATAA		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77024272	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01358.hp1 others(17): Show HG00741.hp2 HG01109.hp1 HG01358.hp1 HG01516.hp2 HG01891.hp2 HG02148.hp1 HG02683.hp1 HG03654.hp2 HG03704.hp1 NA18943.hp2 NA18960.hp2 NA18982.hp1 NA18991.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0030 a0001c0001t0034 others(4): Show a0001c0001t0004 a0001c0001t0030 a0001c0001t0034 a0001c0001t0038 a0001c0001t0066 a0001c0001t0084 a0001c0001t0085	a0001c0001t0004g0031 a0001c0001t0004g0040 a0001c0001t0004g0043 others(17): Show a0001c0001t0004g0031 a0001c0001t0004g0040 a0001c0001t0004g0043 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0058 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0078 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0030g0015 a0001c0001t0030g0027 a0001c0001t0034g0092 a0001c0001t0034g0098 a0001c0001t0038g0046 a0001c0001t0038g0093 a0001c0001t0066g0018 a0001c0001t0084g0026 a0001c0001t0085g0028	20	96	0.2083	12	c.39 others(23): Show c.3963_*3974dupAAAAAAAAAAAA		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	11/11				3975	INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77025392	T T	TTATATAT others(5): Show TTATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG02965.hp2 HG02145.hp2 HG02723.hp1 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0132 a0001c0003t0138 a0001c0003t0150 a0001c0003t0132 a0001c0003t0138 a0001c0003t0150	a0001c0003t0132g0340 a0001c0003t0138g0122 a0001c0003t0150g0110 a0001c0003t0132g0340 a0001c0003t0138g0122 a0001c0003t0150g0110	3	110	0.0273	12	c.50 others(23): Show c.5073_*5084dupATATATATATAT		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	11/11				5085	INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77025392	T T	TTATATGT others(5): Show TTATATGTATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0086 a0001c0001t0073 a0001c0001t0086	a0001c0001t0073g0207 a0001c0001t0086g0208 a0001c0001t0073g0207 a0001c0001t0086g0208	2	109	0.0183	12	c.50 others(23): Show c.5070_*5071insGTATATATATAT		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	11/11				5071	INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77031780	C C	CTTATTTA others(5): Show CTTATTTATTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 NA18947.hp2 HG02886.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0143 a0001c0001t0002 a0001c0003t0143	a0001c0001t0002g0147 a0001c0003t0143g0338 a0001c0001t0002g0147 a0001c0003t0143g0338	2	94	0.0213	12	c.11 others(25): Show c.11453_*11454insTTATTTATTTAT		ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding					4984		chr11	TogoVar
ACIN1_chr14_23053564_23100136	23059956	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0012 a0012	a0012c0029 a0012c0029	a0012c0029t0001 a0012c0029t0001	a0012c0029t0001g0215 a0012c0029t0001g0215	1	221	0.0045	12	c.352 others(29): Show c.3526-494_3526-483dupAAAAAAAAAAAA		ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	18/18						chr14	TogoVar
ACIN1_chr14_23053564_23100136	23079574	A A	AGAACGTG others(5): Show AGAACGTGAACGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02647.hp2 HG03098.hp1 HG03195.hp2 others(2): Show HG02647.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03516.hp2	a0007 a0012 a0007 a0012	a0007c0011 a0012c0029 a0007c0011 a0012c0029	a0007c0011t0001 a0012c0029t0001 a0007c0011t0001 a0012c0029t0001	a0007c0011t0001g0021 a0007c0011t0001g0243 a0007c0011t0001g0244 others(1): Show a0007c0011t0001g0021 a0007c0011t0001g0243 a0007c0011t0001g0244 a0012c0029t0001g0215	5	169	0.0296	12	c.174 others(21): Show c.1749_1760dupACGTTCACGTTC	p.Ser others(25): Show p.Ser587_Arg588insArgSerArgSer	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1784/4460	1760/3852	587/1283			chr14	TogoVar
ACKR2_chr3_42804445_42872286	42822165	T T	TATAAATA others(5): Show TATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG02818.hp2 others(4): Show HG00639.hp2 HG01243.hp2 HG02818.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp2 NA18967.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0002c0002t0002 a0001c0001t0001 a0001c0001t0011 a0002c0002t0002	a0001c0001t0001g0116 a0001c0001t0001g0184 a0001c0001t0001g0185 others(4): Show a0001c0001t0001g0116 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0011g0206 a0001c0001t0011g0209 a0002c0002t0002g0272	7	203	0.0345	12	c.-38 others(29): Show c.-38+2476_-38+2487dupTAAATAAATAAA		ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
ACKR2_chr3_42804445_42872286	42860164	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01346.hp1 others(7): Show HG01168.hp1 HG01169.hp2 HG01346.hp1 HG01433.hp1 HG01975.hp2 HG03516.hp1 HG04115.hp1 NA18941.hp1 NA18971.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0018 a0001c0001t0001g0089 a0001c0001t0001g0117 others(6): Show a0001c0001t0001g0018 a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0013g0084 a0001c0001t0013g0088	10	123	0.0813	12	c.-37 others(29): Show c.-37-4288_-37-4277dupAAAAAAAAAAAA		ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
ACKR3_chr2_236564825_236587354	236566718	C C	CCCTTCCT others(5): Show CCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01099.hp1 HG01167.hp1 others(40): Show HG00408.hp2 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01256.hp1 HG02004.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02698.hp1 HG02970.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA18943.hp1 NA18949.hp1 NA18959.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18995.hp2 NA19012.hp1 NA19030.hp1 NA19066.hp1 NA19068.hp1 NA19076.hp2 NA19081.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0011t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0118 a0001c0001t0004g0052 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0025 a0001c0002t0001g0054 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0011t0001g0004 a0003c0005t0001g0024	43	103	0.4175	12	c.-32 others(23): Show c.-3233_-3232insCCTTCCTTCCTT		ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding					3106		chr2	TogoVar
ACKR3_chr2_236564825_236587354	236573190	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02647.hp1 HG02965.hp2 others(1): Show HG01358.hp2 HG02647.hp1 HG02965.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0088 a0001c0002t0001g0021 a0001c0002t0001g0088	4	392	0.0102	12	c.-27 others(29): Show c.-27+3270_-27+3281dupACACACACACAC		ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
ACLY_chr17_41861918_41923951	41879647	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG01069.hp2 others(3): Show HG00408.hp2 HG00558.hp2 HG01069.hp2 HG01433.hp1 HG02976.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0063 a0001c0001t0001g0111 a0001c0001t0001g0153 others(3): Show a0001c0001t0001g0063 a0001c0001t0001g0111 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0221 a0001c0003t0004g0244	6	17	0.3529	12	c.226 others(29): Show c.2266-735_2266-724dupTTTTTTTTTTTT		ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28						chr17	TogoVar
ACLY_chr17_41861918_41923951	41882367	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 HG02818.hp1 others(1): Show HG02559.hp2 HG02717.hp1 HG02818.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0115 a0001c0001t0001g0204 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0115 a0001c0001t0001g0204 a0001c0001t0001g0205	4	17	0.2353	12	c.226 others(29): Show c.2265+743_2265+754dupTTTTTTTTTTTT		ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28						chr17	TogoVar
ACLY_chr17_41861918_41923951	41885116	A A	ACAATCCT others(5): Show ACAATCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0252 a0002c0002t0002g0252	1	292	0.0034	12	c.207 others(29): Show c.2073-854_2073-843dupGGAGGAGGATTG		ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	18/28						chr17	TogoVar
ACLY_chr17_41861918_41923951	41889524	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02523.hp1 NA19082.hp2 HG00099.hp2 HG02523.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0067 a0001c0001t0001g0146 a0002c0002t0003g0287 a0001c0001t0001g0067 a0001c0001t0001g0146 a0002c0002t0003g0287	3	11	0.2727	12	c.177 others(31): Show c.1771-1833_1771-1822dupTTTTTTTTTTTT		ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	16/28						chr17	TogoVar
ACMSD_chr2_134833616_134907034	134834771	G G	GGGAAGGA others(5): Show GGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp2 HG01169.hp2 others(9): Show HG01168.hp1 HG01168.hp2 HG01169.hp2 HG02074.hp1 HG03139.hp1 HG03471.hp2 HG03491.hp1 NA18940.hp2 NA18961.hp1 NA18974.hp2 NA19003.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0079 a0001c0001t0001g0091 others(9): Show a0001c0001t0001g0041 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0153 a0001c0001t0001g0207 a0001c0001t0001g0256	12	324	0.0370	12	c.-39 others(23): Show c.-3912_-3911insGGAAGGAAGGAA		ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding					3844		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834775	G G	GGGAAGGA others(5): Show GGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 NA18612.hp2 NA18943.hp2 others(2): Show HG01981.hp2 NA18612.hp2 NA18943.hp2 NA18953.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0036 a0001c0001t0001g0065 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0001g0183 a0001c0001t0001g0192	5	111	0.0450	12	c.-39 others(23): Show c.-3908_-3907insGGAAGGAAGGAA		ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding					3840		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(5): Show AGGAAGGAAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01496.hp1 HG02015.hp1 others(14): Show HG00738.hp2 HG01496.hp1 HG02015.hp1 HG02027.hp1 HG02155.hp2 HG02300.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 NA18941.hp2 NA18957.hp1 NA18982.hp1 NA18995.hp2 NA19079.hp2 NA19080.hp2 NA19090.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0028 others(14): Show a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0089 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0152 a0001c0001t0001g0180 a0001c0001t0001g0265 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0304 a0001c0001t0001g0317 a0001c0001t0001g0324 a0007c0007t0001g0205	17	302	0.0563	12	c.-38 others(23): Show c.-3876_-3875insGGAAGGAAGGAG		ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding					3808		chr2	TogoVar

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