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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACYP2_chr2_53966113_54310300	54201636	C C	CTTTCTTT others(26): Show CTTTCTTTTCTTTCTTTCTTTCTTTGTTTCTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	128	0.0078	33	c.404 others(52): Show c.404+62889_404+62890insTTCTTTTCTTTCTTTCTTTCTTTGTT TCTTTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0372 a0001c0001t0008g0372	1	299	0.0033	33	c.973 others(48): Show c.973-422_973-421insATATATATATATATATATATTTTTTTTTTT TTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0185 a0001c0001t0013g0185	1	299	0.0033	33	c.973 others(48): Show c.973-422_973-421insATATATATATATATATATATATATTTTTTT TTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0100 a0002c0006t0007g0100	1	65	0.0154	33	c.114 others(52): Show c.1145+7304_1145+7305insATATATATATATATATTTTTTTTTTT TTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0007 a0002c0001t0001g0007	1	65	0.0154	33	c.114 others(52): Show c.1145+7304_1145+7305insATATATATATATATATATATATATAT TTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0026 a0002c0016t0026	a0002c0016t0026g0004 a0002c0016t0026g0004	1	65	0.0154	33	c.114 others(52): Show c.1145+7304_1145+7305insATATATATATATATATATATATATAT ATTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0224 a0001c0004t0002g0224	1	65	0.0154	33	c.114 others(52): Show c.1145+7304_1145+7305insATATATATATATATATATATATATAT ATATTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126112844	T T	TCATATTC others(26): Show TCATATTCCTGAAACCCAGTGTCCTCCTGAAACC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0025 a0001c0004t0002g0025	1	250	0.0040	33	c.604 others(50): Show c.604-3037_604-3005dupGGTTTCAGGAGGACACTGGGTTTCAGGA ATATG	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126121383	T T	TATATGCA others(26): Show TATATGCAATATATAATATATTGCATATTATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02132.hp1 HG02165.hp1 others(8): Show HG00423.hp2 HG02132.hp1 HG02165.hp1 NA18942.hp2 NA18944.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA19002.hp2 NA19011.hp1 NA19084.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0013 others(3): Show a0001c0002 a0001c0003 a0001c0013 a0002c0001 a0002c0016 a0003c0029	a0001c0002t0001 a0001c0003t0004 a0001c0013t0001 others(5): Show a0001c0002t0001 a0001c0003t0004 a0001c0013t0001 a0002c0001t0001 a0002c0001t0029 a0002c0016t0001 a0002c0016t0026 a0003c0029t0007	a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0003t0004g0215 others(8): Show a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0003t0004g0215 a0001c0013t0001g0083 a0001c0013t0001g0217 a0002c0001t0001g0126 a0002c0001t0029g0003 a0002c0016t0001g0054 a0002c0016t0001g0065 a0002c0016t0026g0004 a0003c0029t0007g0241	11	249	0.0442	33	c.417 others(50): Show c.417-3192_417-3160dupTATATAATATGCAATATATTATATATTG CATAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA19091.hp1 HG00099.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0009 a0001c0001t0024g0006 a0001c0001t0001g0009 a0001c0001t0024g0006	2	95	0.0211	33	c.957 others(48): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM17_chr2_9483486_9560830	9521840	T T	TCTTCCCT others(26): Show TCTTCCCTGCCTGCCTGCCTGCCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG02647.hp1 others(3): Show HG01099.hp2 HG01106.hp1 HG02647.hp1 HG03225.hp1 HG03239.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0067	a0001c0001t0008g0106 a0001c0001t0009g0124 a0001c0001t0009g0126 others(3): Show a0001c0001t0008g0106 a0001c0001t0009g0124 a0001c0001t0009g0126 a0001c0001t0012g0117 a0001c0001t0012g0118 a0001c0001t0067g0132	6	133	0.0451	33	c.844 others(48): Show c.844-525_844-524insGCAGGCAGGCAGGCAGGCAGGCAGGCAGGG AAG	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	7/18			chr2	TogoVar
ADAM22_chr7_87929251_88207889	87966721	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	48	0.0208	33	c.247 others(52): Show c.247-11584_247-11583insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	87982699	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0105 a0003c0003t0001g0105	1	100	0.0100	33	c.323 others(50): Show c.323+4287_323+4288insTATATATATATATATATATATATATATA TATAT	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31			chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0038 a0001c0001t0016g0038	1	77	0.0130	33	c.324 others(52): Show c.324-36161_324-36160insAAAAAAAAATATATATATATATATAT ATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAMTS14_chr10_70667506_70767441	70759132	T T	TTTTTTTT others(26): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG01257.hp1 others(23): Show HG00621.hp1 HG00673.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01952.hp1 HG01978.hp1 HG02071.hp1 HG02148.hp1 HG02257.hp2 HG02300.hp1 HG02602.hp1 HG02976.hp1 HG03453.hp2 HG03579.hp1 HG06807.hp1 NA18941.hp2 NA18950.hp2 NA18964.hp2 NA18979.hp2 NA18980.hp2 NA19000.hp2 NA19003.hp1 NA19012.hp1 NA19068.hp2 NA20300.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0031	a0001c0002 a0001c0005 a0001c0025 others(7): Show a0001c0002 a0001c0005 a0001c0025 a0001c0039 a0001c0057 a0001c0079 a0003c0003 a0003c0070 a0004c0052 a0031c0086	a0001c0002t0002 a0001c0002t0007 a0001c0005t0006 others(10): Show a0001c0002t0002 a0001c0002t0007 a0001c0005t0006 a0001c0025t0028 a0001c0039t0027 a0001c0057t0010 a0001c0079t0048 a0003c0003t0006 a0003c0003t0026 a0003c0003t0028 a0003c0070t0044 a0004c0052t0006 a0031c0086t0006	a0001c0002t0002g0118 a0001c0002t0007g0054 a0001c0005t0006g0321 others(22): Show a0001c0002t0002g0118 a0001c0002t0007g0054 a0001c0005t0006g0321 a0001c0025t0028g0041 a0001c0039t0027g0075 a0001c0039t0027g0093 a0001c0057t0010g0239 a0001c0079t0048g0240 a0003c0003t0006g0002 a0003c0003t0006g0100 a0003c0003t0006g0112 a0003c0003t0006g0138 a0003c0003t0006g0139 a0003c0003t0006g0141 a0003c0003t0006g0142 a0003c0003t0006g0144 a0003c0003t0006g0154 a0003c0003t0006g0162 a0003c0003t0006g0163 a0003c0003t0006g0224 a0003c0003t0026g0060 a0003c0003t0028g0023 a0003c0070t0044g0344 a0004c0052t0006g0210 a0031c0086t0006g0128	26	189	0.1376	33	c.317 others(50): Show c.3178+848_3178+849insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCT	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS19_chr5_129455298_129743683	129658350	A A	AAAGAGAG others(26): Show AAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	222	0.0045	33	c.230 others(50): Show c.2305-263_2305-262insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAAGA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129658354	A A	AGAGAGAG others(26): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0129 a0001c0001t0005g0129	1	223	0.0045	33	c.230 others(50): Show c.2305-263_2305-262insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAG	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	14/22			chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129702941	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	142	0.0070	33	c.316 others(52): Show c.3160-1297_3160-1296insAAATATATATATATATATATATATAT ATATATA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	44	0.0227	33	c.161 others(52): Show c.1614+1906_1614+1907insAAAAAAATATATATATATATATATAT ATATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA19090.hp1 HG03239.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0028 a0001c0001t0001g0030	2	45	0.0444	33	c.161 others(52): Show c.1614+1906_1614+1907insAAAAAAAAAAATATATATATATATAT ATATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18959.hp1 HG00673.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0032 a0001c0001t0001g0049	2	45	0.0444	33	c.161 others(52): Show c.1614+1906_1614+1907insAAAAAAAAAAAAATATATATATATAT ATATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS2_chr5_179105853_179350461	179302941	G G	GACAGGAG others(26): Show GACAGGAGGGCAGAGTGGTGGGCCTGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp1 HG02723.hp2 HG02809.hp1	a0001 a0003 a0001 a0003	a0001c0070 a0003c0002 a0001c0070 a0003c0002	a0001c0070t0001 a0003c0002t0001 a0001c0070t0001 a0003c0002t0001	a0001c0070t0001g0081 a0003c0002t0001g0125 a0001c0070t0001g0081 a0003c0002t0001g0125	2	272	0.0074	33	c.535 others(52): Show c.535-29910_535-29878dupACCCCACCCAGGCCCACCACTCTGCC CTCCTGT	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179302983	G G	GCAGAGTG others(26): Show GCAGAGTGGTGGGCCTGGGTGGGGTACAGGAGGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0099 a0002c0099	a0002c0099t0001 a0002c0099t0001	a0002c0099t0001g0226 a0002c0099t0001g0226	1	272	0.0037	33	c.535 others(52): Show c.535-29952_535-29920dupACCTCCTGTACCCCACCCAGGCCCAC CACTCTG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72399693	A A	ATATATAC others(26): Show ATATATACACACACGGTGTGTACGCATATGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	180	0.0056	33	c.661 others(52): Show c.661+15089_661+15121dupCACACATATGCGTACACACCGTGTGT GTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72530625	T T	TTATTATA others(26): Show TTATTATATAATATATTATATATAATATTATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18942.hp2 NA18998.hp2 others(1): Show HG02165.hp1 NA18942.hp2 NA18998.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0090 a0001c0001t0002g0058 a0001c0001t0002g0059 others(1): Show a0001c0001t0001g0090 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0086	4	180	0.0222	33	c.504 others(52): Show c.504+17820_504+17852dupTATATAATATTATATATAATATATTA TATAATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTSL1_chr9_18469153_18915950	18634911	T T	TTTATATA others(26): Show TTTATATATAAATATGTATGTAAATATATATTTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0011 a0001c0005t0003g0011	1	176	0.0057	33	c.602 others(50): Show c.602-1032_602-1031insTTATATATAAATATGTATGTAAATATAT ATTTA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	5/28			chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18866116	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02109.hp2 HG02572.hp1 HG01257.hp2 HG02109.hp2 HG02572.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0007 a0002c0074 a0008c0017 a0001c0007 a0002c0074 a0008c0017	a0001c0007t0031 a0002c0074t0003 a0008c0017t0002 a0001c0007t0031 a0002c0074t0003 a0008c0017t0002	a0001c0007t0031g0140 a0002c0074t0003g0034 a0008c0017t0002g0043 a0001c0007t0031g0140 a0002c0074t0003g0034 a0008c0017t0002g0043	3	54	0.0556	33	c.425 others(54): Show c.4250-21701_4250-21700insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADARB2_chr10_1172313_1742525	1373820	A A	ACTCCGCG others(26): Show ACTCCGCGCACCCTTCCTAGTGAAACCGCGTGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp2 HG02970.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0017 a0002c0002t0046 a0001c0001t0017 a0002c0002t0046	a0001c0001t0017g0030 a0002c0002t0046g0056 a0001c0001t0017g0030 a0002c0002t0046g0056	2	45	0.0444	33	c.187 others(50): Show c.187+5221_187+5253dupCCCACGCGGTTTCACTAGGAAGGGTGCG CGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	2/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1674884	A A	AGGATGCA others(26): Show AGGATGCATGGATGTTCTGGAGGTTTGGGTTCAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02258.hp2 others(9): Show HG01884.hp1 HG02055.hp2 HG02258.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG03209.hp2 HG03540.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0014 a0011c0011	a0001c0001t0001 a0001c0001t0019 a0001c0001t0049 others(8): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0049 a0001c0003t0040 a0001c0007t0033 a0001c0007t0066 a0002c0002t0005 a0002c0002t0038 a0002c0002t0044 a0002c0014t0008 a0011c0011t0034	a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0019g0038 others(9): Show a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0019g0038 a0001c0001t0049g0040 a0001c0003t0040g0073 a0001c0007t0033g0041 a0001c0007t0066g0105 a0002c0002t0005g0028 a0002c0002t0038g0048 a0002c0002t0044g0049 a0002c0014t0008g0060 a0011c0011t0034g0076	12	106	0.1132	33	c.100 others(52): Show c.100+62134_100+62166dupCTGAACCCAAACCTCCAGAACATCCA TGCATCC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADAT1_chr16_75591868_75628281	75624117	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	345	0.0029	33	c.-17 others(44): Show c.-1737_-1736insATATATATATATATATATATATATATATATATA	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		837		chr16	TogoVar
ADA_chr20_44614522_44656699	44623665	C C	CTTTCCTT others(26): Show CTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03579.hp2 HG02486.hp1 HG03579.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0020 a0001c0001 a0011c0020	a0001c0001t0001 a0011c0020t0001 a0001c0001t0001 a0011c0020t0001	a0001c0001t0001g0095 a0011c0020t0001g0257 a0001c0001t0001g0095 a0011c0020t0001g0257	2	326	0.0061	33	c.606 others(48): Show c.606+504_606+536dupAAGAGGAAGGGAGGGAGGGAGGAAGGAAGG AAA	ADA	ENSG00000196839.14	transcript	ENST00000372874.9	protein_coding	6/11			chr20	TogoVar
ADCK1_chr14_77795109_77940014	77852665	A A	ATATATAT others(26): Show ATATATATATATATTTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0054	1	284	0.0035	33	c.220 others(50): Show c.220-6398_220-6397insTTATATATATATATATATATTATATATA TATAT	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCK1_chr14_77795109_77940014	77852907	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0040 a0001c0004t0002g0040	1	163	0.0061	33	c.220 others(50): Show c.220-6168_220-6167insATATATATATATATATATATATTTTTTT TTTTT	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCY1_chr7_45569368_45728116	45583937	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0061 a0001c0001t0023g0061	1	191	0.0052	33	c.639 others(50): Show c.639+8783_639+8784insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY1_chr7_45569368_45728116	45641932	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	20	0.0500	33	c.102 others(52): Show c.1021-6724_1021-6723insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADCY2_chr5_7391138_7835081	7561568	T T	TTTTTTTT others(26): Show TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0018 a0002c0002t0015g0018	1	113	0.0088	33	c.570 others(52): Show c.570+40670_570+40671insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCT	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7589458	A A	AAAAGAAA others(26): Show AAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0004 a0007c0017t0004	a0007c0017t0004g0024 a0007c0017t0004g0024	1	80	0.0125	33	c.571 others(52): Show c.571-36686_571-36685insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY5_chr3_123277296_123454090	123359331	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	17	0.0588	33	c.113 others(52): Show c.1135-6751_1135-6750insATATATATATATATATATATATATAT ATATATA	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/20			chr3	TogoVar
ADCY6_chr12_48761194_48794089	48786552	A A	AGGGGGGG others(26): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0103 a0001c0001t0011g0103	1	302	0.0033	33	c.-5+ others(48): Show c.-5+2353_-5+2354insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCC	ADCY6	ENSG00000174233.12	transcript	ENST00000357869.8	protein_coding	1/21			chr12	TogoVar
ADD3_chr10_110002984_110140565	110065539	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18982.hp1 NA18997.hp2 HG03486.hp1 NA18982.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0011 a0001c0004t0001 a0001c0001t0001 a0001c0001t0011 a0001c0004t0001	a0001c0001t0001g0255 a0001c0001t0011g0283 a0001c0004t0001g0202 a0001c0001t0001g0255 a0001c0001t0011g0283 a0001c0004t0001g0202	3	65	0.0462	33	c.-29 others(52): Show c.-29-35068_-29-35067insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	ADD3	ENSG00000148700.15	transcript	ENST00000356080.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRB3_chr6_68630282_69394506	69031552	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	114	0.0088	33	c.210 others(54): Show c.2107+13053_2107+13054insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31			chr6	TogoVar
ADGRD1_chr12_130948907_131146469	131046203	C C	CCCTCCCT others(26): Show CCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp1 HG01257.hp1 others(8): Show HG00738.hp2 HG01168.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG02683.hp2 HG02895.hp2 HG02897.hp1 HG03195.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0035 a0001c0003 a0006c0035	a0001c0003t0004 a0001c0003t0012 a0006c0035t0047 a0001c0003t0004 a0001c0003t0012 a0006c0035t0047	a0001c0003t0004g0013 a0001c0003t0004g0104 a0001c0003t0004g0121 others(8): Show a0001c0003t0004g0013 a0001c0003t0004g0104 a0001c0003t0004g0121 a0001c0003t0004g0122 a0001c0003t0004g0189 a0001c0003t0004g0190 a0001c0003t0004g0191 a0001c0003t0004g0193 a0001c0003t0012g0025 a0001c0003t0012g0027 a0006c0035t0047g0219	11	57	0.1930	33	c.147 others(54): Show c.1474-30576_1474-30544dupCTGGTCAGTGCTCCTCCCTGGTCA GTGTCCTCC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRE2_chr19_14727392_14783560	14736809	G G	GATATTTA others(26): Show GATATTTAGAAATATATAGATATTTAATATCTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(78): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01361.hp2 HG01496.hp1 HG01943.hp1 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04199.hp1 HG06807.hp2 NA18747.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18971.hp1 NA18986.hp1 NA18990.hp2 NA19000.hp1 NA19007.hp1 NA19010.hp2 NA19060.hp1 NA19074.hp1 NA19083.hp1 NA19083.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0008 a0010 a0015 a0017 a0023 a0024 a0028	a0001c0001 a0001c0010 a0001c0011 others(12): Show a0001c0001 a0001c0010 a0001c0011 a0001c0012 a0002c0002 a0002c0013 a0002c0032 a0003c0003 a0008c0016 a0010c0015 a0015c0028 a0017c0021 a0023c0022 a0024c0039 a0028c0038	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0047 a0001c0010t0001 a0001c0011t0009 a0001c0011t0044 a0001c0012t0009 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 a0002c0002t0014 a0002c0002t0019 a0002c0013t0006 a0002c0032t0003 a0003c0003t0005 a0003c0003t0011 a0008c0016t0001 a0010c0015t0043 a0010c0015t0048 a0015c0028t0001 a0017c0021t0006 a0023c0022t0001 a0024c0039t0014 a0028c0038t0001	a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0144 others(78): Show a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0087 a0001c0001t0006g0009 a0001c0001t0006g0019 a0001c0001t0047g0150 a0001c0010t0001g0168 a0001c0011t0009g0115 a0001c0011t0009g0130 a0001c0011t0044g0114 a0001c0012t0009g0129 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0169 a0002c0002t0003g0088 a0002c0002t0003g0109 a0002c0002t0003g0111 a0002c0002t0006g0005 a0002c0002t0006g0037 a0002c0002t0006g0055 a0002c0002t0009g0121 a0002c0002t0014g0057 a0002c0002t0014g0058 a0002c0002t0019g0040 a0002c0002t0019g0041 a0002c0013t0006g0050 a0002c0032t0003g0099 a0003c0003t0005g0140 a0003c0003t0005g0209 a0003c0003t0011g0080 a0008c0016t0001g0151 a0008c0016t0001g0154 a0010c0015t0043g0112 a0010c0015t0048g0135 a0015c0028t0001g0149 a0017c0021t0006g0010 a0023c0022t0001g0119 a0024c0039t0014g0061 a0028c0038t0001g0175	81	196	0.4133	33	c.246 others(50): Show c.2464-598_2464-566dupATAGATATTAAATATCTATATATTTCTA AATAT	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	20/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14736839	C C	CTATATAT others(26): Show CTATATATTTAGAAATATATAGATATTTAATATT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0029 a0001c0001t0006g0029	1	216	0.0046	33	c.246 others(50): Show c.2464-596_2464-595insAATATTAAATATCTATATATTTCTAAAT ATATA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	20/20			chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14620542	T T	TATAATAT others(26): Show TATAATATATATATATATATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0196 a0002c0018t0001g0196	1	367	0.0027	33	c.192 others(52): Show c.1921-1072_1921-1071insTATATATAATATATATATATATATAT ATATTAT	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
ADGRL3_chr4_61195326_62083335	61844575	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0041 a0001c0002t0014g0041	1	15	0.0667	33	c.148 others(54): Show c.1480+30687_1480+30688insAAATATATATATATATATATATAT ATATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRV1_chr5_90553797_91169437	90569387	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0050 a0050	a0050c0024 a0050c0024	a0050c0024t0007 a0050c0024t0007	a0050c0024t0007g0154 a0050c0024t0007g0154	1	100	0.0100	33	c.22+ others(50): Show c.22+10471_22+10472insATATATATATATATATATATTTTTTTTT TTTTT	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	1/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRV1_chr5_90553797_91169437	91014136	C C	CCCACACA others(26): Show CCCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0119 a0003c0007t0001g0119	1	24	0.0417	33	c.181 others(56): Show c.18152+28615_18152+28616insCACACACACACACACACACACA CACACACACAC	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	85/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADORA3_chr1_111494429_111508633	111502463	C C	CATATATT others(26): Show CATATATTTATTATAATGAATATATATAGGATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	166	0.0060	33	c.350 others(48): Show c.350+541_350+542insATATCCTATATATATTCATTATAATAAATA TAT	ADORA3	ENSG00000282608.2	transcript	ENST00000241356.5	protein_coding	1/1			chr1	TogoVar
ADRA1D_chr20_4215630_4254287	4227704	C C	CTCCCTCC others(26): Show CTCCCTCCTTCCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19086.hp2 HG02165.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0177 a0001c0001t0001g0165 a0001c0001t0001g0177	2	178	0.0112	33	c.111 others(52): Show c.1112-5575_1112-5574insAGGAAGGAAGGAAGGAAGGAAGGGAA GGAGGGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar

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