Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
ACAP3_chr1_1287391_1312930	1288589	CCGTGTCT others(49): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	295	0.0034	-56	c.49 others(67): Show c.4919_*4974delACGGGGCAGAGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3801		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288750	CTCCGTCC others(49): Show CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCCCTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG03209.hp2 NA19087.hp2 HG02897.hp2 HG03209.hp2 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0003c0004t0001 a0001c0001t0001 a0001c0001t0003 a0003c0004t0001	a0001c0001t0001g0103 a0001c0001t0003g0002 a0003c0004t0001g0211 a0001c0001t0001g0103 a0001c0001t0003g0002 a0003c0004t0001g0211	3	295	0.0102	-56	c.47 others(67): Show c.4758_*4813delACAGGGACACGGGGGACGGAGCAGAGACACGGGA CGGAGCAGGGACACGGGACGGA		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3640		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288775	CCGTGTCT others(49): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCT GCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19077.hp2 NA19009.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0153 a0001c0002t0001g0087 a0001c0001t0002g0153 a0001c0002t0001g0087	2	295	0.0068	-56	c.47 others(67): Show c.4733_*4788delACGGAGCAGAGACTCGGGGGACGGAACAGGGACA CGGGGGACGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3615		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288880	CTCCGTCC others(49): Show CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCCCTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	295	0.0034	-56	c.46 others(67): Show c.4628_*4683delACAGGGACACGGGGGACGGAGCAGAGACACGGGA CGGAGCAGGGACACGGGACGGA		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3510		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289055	CCGTGTCT others(49): Show CCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	295	0.0034	-56	c.44 others(67): Show c.4453_*4508delACGGAGCAGGGACACGGGGGACGGAGCAGAGACT CGGGGGACGGAGCAGAGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3335		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289087	TCCGTCCC others(49): Show TCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	295	0.0034	-56	c.44 others(67): Show c.4421_*4476delGGCAGAGACACGGGACGGAGCAGGGACACGGGAC GGAGCAGGGACACGGGGGACGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3303		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289100	TCCCTGCT others(49): Show TCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	295	0.0034	-56	c.44 others(67): Show c.4408_*4463delGGACACGGGACGGGGCAGAGACACGGGACGGAGC AGGGACACGGGACGGAGCAGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3290		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289149	CCGTGTCC others(49): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	295	0.0034	-56	c.43 others(67): Show c.4359_*4414delACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGGGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3241		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289234	TCTGCTCC others(49): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCC CGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	295	0.0034	-56	c.42 others(67): Show c.4274_*4329delGGACACGGGACGGAGCAGGGACACGGGGGACGGA GCAGAGACACGGGACGGAGCAG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3156		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289257	TCCGTCCC others(49): Show TCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGT CTCTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 NA19079.hp1 NA19088.hp2 HG01346.hp1 NA19079.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0001t0001 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0052 a0001c0002t0001g0021 a0001c0003t0002g0119 a0001c0001t0001g0052 a0001c0002t0001g0021 a0001c0003t0002g0119	3	295	0.0102	-56	c.42 others(67): Show c.4251_*4306delGGCAGAGACACGGGACGGGGCAGGGACACGGGAC GGAGCAGGGACACGGGGGACGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3133		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289395	CCCCGTGT others(49): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	-56	c.41 others(67): Show c.4113_*4168delACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2995		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289709	CCGTGTCC others(49): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	295	0.0034	-56	c.37 others(67): Show c.3799_*3854delACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGGGACACG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2681		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289916	CTCTGCCC others(49): Show CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	295	0.0034	-56	c.35 others(67): Show c.3592_*3647delCACGGGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGGGCAGA		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2474		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290072	TCCCGTGT others(49): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	295	0.0034	-56	c.34 others(67): Show c.3436_*3491delGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2318		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290117	TCTGCTCC others(49): Show TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	295	0.0034	-56	c.33 others(67): Show c.3391_*3446delGGACACGGGACGGAGCAGAGACACGGGACGGAGC AGAGACACGGGGGACGGAGCAG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2273		chr1	TogoVar
ACOX3_chr4_8361282_8445723	8364482	TGAGAACC others(49): Show TGAGAACCCGTCGTGTCTGACATGGTGACATCGTGGCATCGCAAAGCTCT CCTGCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00735.hp1 others(57): Show HG00280.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01346.hp1 HG01433.hp1 HG02040.hp1 HG02040.hp2 HG02145.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18946.hp1 NA18947.hp2 NA18987.hp1 NA19005.hp1 NA19030.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0002c0015 a0008c0023	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0003t0001 a0001c0003t0005 a0001c0011t0002 a0002c0015t0002 a0008c0023t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0019 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0162 a0001c0001t0001g0262 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0293 a0001c0001t0004g0239 a0001c0001t0004g0241 a0001c0001t0005g0187 a0001c0002t0002g0011 a0001c0002t0002g0018 a0001c0002t0002g0094 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0111 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0307 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0004g0279 a0001c0002t0004g0280 a0001c0002t0004g0281 a0001c0002t0004g0282 a0001c0002t0004g0283 a0001c0002t0008g0008 a0001c0002t0008g0009 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0005g0254 a0001c0003t0005g0255 a0001c0003t0005g0256 a0001c0003t0005g0257 a0001c0003t0005g0258 a0001c0011t0002g0359 a0002c0015t0002g0369 a0008c0023t0002g0363	60	380	0.1579	-56	c.24 others(67): Show c.2423_*2478delGTGCAGGAGAGCTTTGCGATGCCACGATGTCACC ATGTCAGACACGACGGGTTCTC		ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding					1799		chr4	TogoVar
ACSF3_chr16_89088852_89161233	89147184	GGGAGGGT others(49): Show GGGAGGGTCCACAGAGTGAGTGAGAGAGGAGGGAGGGTCCACAGAGTGAG TGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0337 a0004c0004t0003g0337	1	368	0.0027	-56	c.161 others(75): Show c.1613+1142_1613+1197delTCCACAGAGTGAGTGAGAGAGGAGGG AGGGTCCACAGAGTGAGTGAGGGAGGAGGG		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
ADA2_chr22_17173790_17224435	17184892	ACACTCTA others(49): Show ACACTCTAGCCTGGGTGACAGAGGTGGAGGCTGTAGTGAGCTGTCATCAC ACCACCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(367): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 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.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(16): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0013 a0001c0018 a0002c0002 a0002c0006 a0002c0007 a0002c0009 a0002c0011 a0002c0012 a0002c0017 a0003c0019 a0004c0016 a0005c0014 a0006c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(102): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0025 a0001c0001t0035 a0001c0001t0037 a0001c0001t0040 a0001c0001t0048 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0003t0012 a0001c0003t0013 a0001c0003t0016 a0001c0003t0019 a0001c0003t0023 a0001c0003t0026 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0007 a0001c0004t0008 a0001c0004t0012 a0001c0004t0013 a0001c0004t0015 a0001c0004t0016 a0001c0004t0021 a0001c0004t0036 a0001c0004t0038 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0006 a0001c0005t0014 a0001c0005t0024 a0001c0005t0027 a0001c0005t0039 a0001c0008t0001 a0001c0008t0002 a0001c0008t0004 a0001c0008t0006 a0001c0008t0042 a0001c0008t0047 a0001c0010t0002 a0001c0010t0006 a0001c0010t0018 a0001c0013t0001 a0001c0013t0028 a0001c0018t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0012 a0002c0002t0013 a0002c0002t0017 a0002c0002t0020 a0002c0002t0041 a0002c0002t0044 a0002c0002t0051 a0002c0006t0003 a0002c0006t0004 a0002c0006t0007 a0002c0006t0008 a0002c0006t0010 a0002c0006t0017 a0002c0006t0029 a0002c0006t0031 a0002c0006t0033 a0002c0006t0046 a0002c0006t0050 a0002c0007t0001 a0002c0007t0003 a0002c0007t0007 a0002c0007t0008 a0002c0007t0009 a0002c0007t0030 a0002c0009t0002 a0002c0009t0006 a0002c0009t0014 a0002c0011t0002 a0002c0011t0006 a0002c0011t0018 a0002c0011t0043 a0002c0012t0014 a0002c0017t0014 a0003c0019t0007 a0004c0016t0045 a0005c0014t0004 a0006c0015t0001	a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0055 others(364): Show a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0003g0172 a0001c0001t0003g0187 a0001c0001t0003g0287 a0001c0001t0004g0329 a0001c0001t0004g0338 a0001c0001t0004g0350 a0001c0001t0004g0355 a0001c0001t0004g0373 a0001c0001t0004g0378 a0001c0001t0004g0380 a0001c0001t0004g0381 a0001c0001t0004g0396 a0001c0001t0004g0402 a0001c0001t0005g0062 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0005g0104 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0123 a0001c0001t0005g0163 a0001c0001t0005g0226 a0001c0001t0005g0270 a0001c0001t0005g0273 a0001c0001t0005g0323 a0001c0001t0007g0152 a0001c0001t0008g0376 a0001c0001t0009g0076 a0001c0001t0010g0052 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0013g0065 a0001c0001t0013g0170 a0001c0001t0015g0030 a0001c0001t0015g0096 a0001c0001t0015g0219 a0001c0001t0015g0307 a0001c0001t0016g0337 a0001c0001t0016g0382 a0001c0001t0019g0295 a0001c0001t0025g0169 a0001c0001t0035g0057 a0001c0001t0037g0249 a0001c0001t0040g0321 a0001c0001t0048g0358 a0001c0003t0001g0095 a0001c0003t0001g0109 a0001c0003t0001g0134 a0001c0003t0001g0151 a0001c0003t0001g0230 a0001c0003t0001g0232 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0245 a0001c0003t0001g0311 a0001c0003t0003g0035 a0001c0003t0003g0097 a0001c0003t0003g0105 a0001c0003t0003g0111 a0001c0003t0003g0225 a0001c0003t0003g0308 a0001c0003t0004g0328 a0001c0003t0004g0335 a0001c0003t0004g0339 a0001c0003t0004g0342 a0001c0003t0004g0346 a0001c0003t0004g0359 a0001c0003t0005g0241 a0001c0003t0005g0315 a0001c0003t0008g0365 a0001c0003t0008g0389 a0001c0003t0010g0088 a0001c0003t0012g0001 a0001c0003t0012g0007 a0001c0003t0012g0010 a0001c0003t0012g0014 a0001c0003t0013g0108 a0001c0003t0016g0325 a0001c0003t0019g0244 a0001c0003t0023g0008 a0001c0003t0026g0026 a0001c0004t0001g0050 a0001c0004t0001g0051 a0001c0004t0001g0063 a0001c0004t0001g0068 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0083 a0001c0004t0001g0091 a0001c0004t0001g0098 a0001c0004t0001g0125 a0001c0004t0001g0126 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0001g0139 a0001c0004t0001g0145 a0001c0004t0001g0146 a0001c0004t0001g0147 a0001c0004t0001g0201 a0001c0004t0001g0216 a0001c0004t0001g0224 a0001c0004t0001g0234 a0001c0004t0001g0260 a0001c0004t0001g0261 a0001c0004t0001g0264 a0001c0004t0001g0286 a0001c0004t0001g0324 a0001c0004t0004g0395 a0001c0004t0005g0067 a0001c0004t0005g0124 a0001c0004t0005g0143 a0001c0004t0005g0221 a0001c0004t0005g0222 a0001c0004t0005g0223 a0001c0004t0005g0228 a0001c0004t0005g0235 a0001c0004t0005g0258 a0001c0004t0005g0259 a0001c0004t0007g0263 a0001c0004t0008g0336 a0001c0004t0012g0006 a0001c0004t0013g0074 a0001c0004t0013g0254 a0001c0004t0015g0058 a0001c0004t0016g0326 a0001c0004t0021g0013 a0001c0004t0036g0253 a0001c0004t0038g0138 a0001c0005t0001g0209 a0001c0005t0002g0024 a0001c0005t0002g0028 a0001c0005t0002g0033 a0001c0005t0002g0046 a0001c0005t0002g0048 a0001c0005t0002g0103 a0001c0005t0002g0156 a0001c0005t0002g0174 a0001c0005t0002g0194 a0001c0005t0002g0198 a0001c0005t0002g0199 a0001c0005t0002g0203 a0001c0005t0002g0205 a0001c0005t0002g0210 a0001c0005t0002g0215 a0001c0005t0002g0220 a0001c0005t0002g0248 a0001c0005t0002g0250 a0001c0005t0002g0310 a0001c0005t0002g0313 a0001c0005t0004g0352 a0001c0005t0004g0353 a0001c0005t0004g0354 a0001c0005t0006g0372 a0001c0005t0006g0374 a0001c0005t0006g0379 a0001c0005t0014g0309 a0001c0005t0024g0160 a0001c0005t0027g0017 a0001c0005t0039g0298 a0001c0008t0001g0100 a0001c0008t0002g0110 a0001c0008t0002g0231 a0001c0008t0002g0304 a0001c0008t0002g0317 a0001c0008t0004g0399 a0001c0008t0006g0327 a0001c0008t0006g0348 a0001c0008t0006g0349 a0001c0008t0006g0357 a0001c0008t0006g0384 a0001c0008t0006g0386 a0001c0008t0006g0387 a0001c0008t0006g0388 a0001c0008t0006g0391 a0001c0008t0042g0344 a0001c0008t0047g0351 a0001c0010t0002g0069 a0001c0010t0002g0136 a0001c0010t0002g0137 a0001c0010t0002g0236 a0001c0010t0006g0334 a0001c0010t0006g0403 a0001c0010t0018g0144 a0001c0013t0001g0056 a0001c0013t0028g0036 a0001c0018t0001g0133 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0021 a0002c0002t0001g0031 a0002c0002t0001g0077 a0002c0002t0001g0159 a0002c0002t0001g0179 a0002c0002t0001g0189 a0002c0002t0001g0252 a0002c0002t0001g0272 a0002c0002t0001g0280 a0002c0002t0001g0314 a0002c0002t0001g0319 a0002c0002t0003g0023 a0002c0002t0003g0029 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0002t0003g0078 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0173 a0002c0002t0003g0211 a0002c0002t0003g0266 a0002c0002t0003g0278 a0002c0002t0003g0301 a0002c0002t0007g0049 a0002c0002t0007g0289 a0002c0002t0007g0320 a0002c0002t0008g0356 a0002c0002t0008g0377 a0002c0002t0009g0165 a0002c0002t0009g0177 a0002c0002t0009g0180 a0002c0002t0009g0274 a0002c0002t0009g0294 a0002c0002t0010g0032 a0002c0002t0010g0066 a0002c0002t0010g0202 a0002c0002t0010g0204 a0002c0002t0010g0206 a0002c0002t0010g0207 a0002c0002t0010g0217 a0002c0002t0012g0005 a0002c0002t0013g0185 a0002c0002t0017g0034 a0002c0002t0020g0392 a0002c0002t0020g0400 a0002c0002t0041g0332 a0002c0002t0044g0330 a0002c0002t0051g0333 a0002c0006t0003g0037 a0002c0006t0003g0064 a0002c0006t0003g0087 a0002c0006t0003g0106 a0002c0006t0003g0107 a0002c0006t0003g0132 a0002c0006t0003g0246 a0002c0006t0003g0316 a0002c0006t0004g0363 a0002c0006t0007g0020 a0002c0006t0007g0121 a0002c0006t0008g0331 a0002c0006t0008g0347 a0002c0006t0008g0361 a0002c0006t0008g0364 a0002c0006t0008g0369 a0002c0006t0010g0089 a0002c0006t0010g0305 a0002c0006t0017g0018 a0002c0006t0017g0218 a0002c0006t0029g0186 a0002c0006t0031g0085 a0002c0006t0033g0247 a0002c0006t0046g0370 a0002c0006t0050g0345 a0002c0007t0001g0122 a0002c0007t0001g0140 a0002c0007t0001g0148 a0002c0007t0001g0149 a0002c0007t0001g0256 a0002c0007t0003g0082 a0002c0007t0003g0099 a0002c0007t0003g0255 a0002c0007t0003g0257 a0002c0007t0007g0073 a0002c0007t0007g0129 a0002c0007t0007g0130 a0002c0007t0007g0142 a0002c0007t0007g0197 a0002c0007t0008g0394 a0002c0007t0008g0404 a0002c0007t0009g0141 a0002c0007t0009g0190 a0002c0007t0009g0237 a0002c0007t0030g0188 a0002c0009t0002g0045 a0002c0009t0002g0054 a0002c0009t0002g0090 a0002c0009t0002g0208 a0002c0009t0002g0282 a0002c0009t0002g0302 a0002c0009t0002g0306 a0002c0009t0006g0383 a0002c0009t0014g0022 a0002c0011t0002g0019 a0002c0011t0002g0131 a0002c0011t0006g0343 a0002c0011t0018g0025 a0002c0011t0043g0401 a0002c0012t0014g0015 a0002c0012t0014g0047 a0002c0017t0014g0086 a0003c0019t0007g0053 a0004c0016t0045g0341 a0005c0014t0004g0393 a0006c0015t0001g0167	370	408	0.9069	-56	c.108 others(75): Show c.1082-2187_1082-2132delCGGTGGTGTGATGACAGCTCACTACA GCCTCCACCTCTGTCACCCAGGCTAGAGTG		ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9						chr22	TogoVar
ADAMTS17_chr15_99966437_100346975	100102421	CGAAGGGG others(49): Show CGAAGGGGATCTACATTTGAGGGCCGACCAAAGGGGATCTACATTTGAGG GCCAACT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02071.hp2 HG02109.hp2 others(14): Show HG02055.hp1 HG02071.hp2 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02970.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0021 a0001c0047 a0002c0011 others(10): Show a0001c0021 a0001c0047 a0002c0011 a0002c0051 a0002c0055 a0002c0066 a0002c0071 a0003c0009 a0004c0008 a0004c0030 a0005c0036 a0006c0016 a0007c0023	a0001c0021t0016 a0001c0047t0005 a0002c0011t0006 others(12): Show a0001c0021t0016 a0001c0047t0005 a0002c0011t0006 a0002c0051t0015 a0002c0055t0014 a0002c0066t0006 a0002c0071t0025 a0003c0009t0001 a0003c0009t0003 a0004c0008t0001 a0004c0030t0001 a0004c0030t0003 a0005c0036t0002 a0006c0016t0024 a0007c0023t0001	a0001c0021t0016g0113 a0001c0047t0005g0209 a0002c0011t0006g0054 others(14): Show a0001c0021t0016g0113 a0001c0047t0005g0209 a0002c0011t0006g0054 a0002c0051t0015g0090 a0002c0055t0014g0002 a0002c0066t0006g0176 a0002c0071t0025g0162 a0003c0009t0001g0110 a0003c0009t0001g0126 a0003c0009t0003g0052 a0004c0008t0001g0163 a0004c0030t0001g0214 a0004c0030t0003g0020 a0005c0036t0002g0140 a0006c0016t0024g0200 a0007c0023t0001g0072 a0007c0023t0001g0206	17	228	0.0746	-56	c.201 others(75): Show c.2017-6001_2017-5946delAGTTGGCCCTCAAATGTAGATCCCCT TTGGTCGGCCCTCAAATGTAGATCCCCTTC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	14/21						chr15	TogoVar
ADAMTS2_chr5_179105853_179350461	179263011	TATTATTC others(49): Show TATTATTCCCCCATGATTTGGGGAGCAGTATTATTCCCCCATGATTTGGG GAGCAGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02451.hp1 HG02976.hp1 others(2): Show HG00140.hp2 HG02451.hp1 HG02976.hp1 NA18946.hp2 NA18995.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0014 a0001c0018 a0002c0003 others(1): Show a0001c0014 a0001c0018 a0002c0003 a0008c0036	a0001c0014t0008 a0001c0018t0002 a0002c0003t0001 others(1): Show a0001c0014t0008 a0001c0018t0002 a0002c0003t0001 a0008c0036t0007	a0001c0014t0008g0065 a0001c0018t0002g0178 a0002c0003t0001g0246 others(2): Show a0001c0014t0008g0065 a0001c0018t0002g0178 a0002c0003t0001g0246 a0002c0003t0001g0268 a0008c0036t0007g0035	5	276	0.0181	-56	c.688 others(73): Show c.688+9844_688+9899delGCTGCTCCCCAAATCATGGGGGAATAAT ACTGCTCCCCAAATCATGGGGGAATAAT		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179263039	TATTATTC others(49): Show TATTATTCCCCCATGATTTGGGGAGCAGCATTATTCCCCCATGATTTGGG GAGCAGC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01106.hp1 others(6): Show HG00735.hp2 HG01069.hp1 HG01106.hp1 HG02109.hp1 HG02630.hp1 HG02895.hp1 HG03490.hp1 HG03492.hp2 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0011 a0019	a0001c0001 a0002c0109 a0003c0030 others(5): Show a0001c0001 a0002c0109 a0003c0030 a0004c0033 a0004c0077 a0007c0026 a0011c0054 a0019c0081	a0001c0001t0001 a0002c0109t0012 a0003c0030t0011 others(5): Show a0001c0001t0001 a0002c0109t0012 a0003c0030t0011 a0004c0033t0003 a0004c0077t0017 a0007c0026t0003 a0011c0054t0001 a0019c0081t0028	a0001c0001t0001g0115 a0002c0109t0012g0203 a0003c0030t0011g0128 others(6): Show a0001c0001t0001g0115 a0002c0109t0012g0203 a0003c0030t0011g0128 a0004c0033t0003g0140 a0004c0077t0017g0135 a0007c0026t0003g0137 a0007c0026t0003g0138 a0011c0054t0001g0045 a0019c0081t0028g0053	9	276	0.0326	-56	c.688 others(73): Show c.688+9816_688+9871delGCTGCTCCCCAAATCATGGGGGAATAAT GCTGCTCCCCAAATCATGGGGGAATAAT		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21						chr5	TogoVar
ADARB1_chr21_45069580_45231560	45074001	CGGGGGCT others(49): Show CGGGGGCTCGGCGGGGGCTCGGCGGGGGCTCGGCGGGGGCTCGGCGGGGG CTCGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02970.hp2 HG03453.hp1 HG01891.hp1 HG02970.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0016 a0001c0002 a0002c0016	a0001c0002t0001 a0001c0002t0099 a0002c0016t0073 a0001c0002t0001 a0001c0002t0099 a0002c0016t0073	a0001c0002t0001g0035 a0001c0002t0099g0046 a0002c0016t0073g0047 a0001c0002t0001g0035 a0001c0002t0099g0046 a0002c0016t0073g0047	3	350	0.0086	-56	c.-10 others(66): Show c.-1011_-956delGGGGGCTCGGCGGGGGCTCGGCGGGGGCTCGGCGG GGGCTCGGCGGGGGCTCGGCG		ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding					578		chr21	TogoVar
ADARB2_chr10_1172313_1742525	1214073	ATAGGTTT others(49): Show ATAGGTTTGCACCTGTGTCCAGCATCGTGTAGGTTTGCACCTGTGTCCAG CGTCATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG01934.hp1 others(22): Show HG01243.hp1 HG01433.hp2 HG01934.hp1 HG02040.hp2 HG02109.hp1 HG02602.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02970.hp2 HG03041.hp1 HG04184.hp1 NA18522.hp2 NA18945.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18998.hp2 NA19011.hp1 NA19086.hp2 NA20805.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0009c0015	a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 others(15): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0022 a0001c0001t0035 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0003t0009 a0001c0003t0032 a0001c0003t0039 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0062 a0009c0015t0014	a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0097 others(22): Show a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0011g0017 a0001c0001t0011g0026 a0001c0001t0018g0027 a0001c0001t0022g0015 a0001c0001t0035g0079 a0001c0001t0056g0081 a0001c0001t0057g0103 a0001c0001t0058g0099 a0001c0001t0059g0092 a0001c0003t0009g0046 a0001c0003t0032g0071 a0001c0003t0039g0044 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0004g0101 a0002c0002t0006g0018 a0002c0002t0062g0093 a0009c0015t0014g0008	25	106	0.2359	-56	c.168 others(75): Show c.1682+2822_1682+2877delCATGACGCTGGACACAGGTGCAAACC TACACGATGCTGGACACAGGTGCAAACCTA		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	7/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1472325	TGCGGCTC others(49): Show TGCGGCTCAGGGGTCAGCCAGGTGTGACGAGCTCTGTGCCATAGGGGCGA GGGCCAC	T T	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0082 a0002c0002t0004g0082	1	106	0.0094	-56	c.101 others(75): Show c.101-93221_101-93166delGTGGCCCTCGCCCCTATGGCACAGAG CTCGTCACACCTGGCTGACCCCTGAGCCGC		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADGB_chr6_146593972_146820462	146691421	TATATATA others(49): Show TATATATATATATATATATATAAAAATATATATATATAAAAATATATATA TATATAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03540.hp1 HG02809.hp1 HG03540.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0003 a0004c0020t0003	a0004c0020t0003g0216 a0004c0020t0003g0217 a0004c0020t0003g0216 a0004c0020t0003g0217	2	276	0.0073	-56	c.148 others(73): Show c.1486+153_1486+208delAAAATATATATATATAAAAATATATATA TATATAAATATATATATATATATATATA		ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	11/35					INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRA1_chr10_133082924_133136675	133135636	TGGTCTCT others(49): Show TGGTCTCTGGGTCCCTGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGTG GGGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01243.hp1 HG01433.hp2 others(5): Show HG00642.hp1 HG01243.hp1 HG01433.hp2 HG02922.hp1 HG03017.hp2 HG04199.hp2 NA18522.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0017 a0001c0001t0040 a0001c0001t0045 others(2): Show a0001c0001t0017 a0001c0001t0040 a0001c0001t0045 a0001c0001t0053 a0001c0016t0060	a0001c0001t0017g0052 a0001c0001t0017g0130 a0001c0001t0017g0155 others(5): Show a0001c0001t0017g0052 a0001c0001t0017g0130 a0001c0001t0017g0155 a0001c0001t0017g0201 a0001c0001t0040g0025 a0001c0001t0045g0206 a0001c0001t0053g0303 a0001c0016t0060g0291	8	368	0.0217	-56	c.61 others(67): Show c.6126_*6181delGGTCTCTGGGTCCCTGTGGGGGGGTTCTGGTCTC TGGGTCCCTGTGGTGGGGGGGG		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding					3962		chr10	TogoVar
ADGRB3_chr6_68630282_69394506	68661351	GTGTGTGT others(49): Show GTGTGTGTGTGTGTATATATATGTGTATACATATATATATGTGTGTATAC ATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp2 HG02970.hp1 others(6): Show HG02559.hp2 HG02895.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002	a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 others(6): Show a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0093 a0001c0002t0001g0042 a0001c0002t0002g0037 a0001c0002t0002g0041 a0001c0003t0002g0120	9	120	0.0750	-56	c.757 others(75): Show c.757+21929_757+21984delGTGTATATATATGTGTATACATATAT ATATGTGTGTATACATATATATGTGTGTGT		ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	68661361	GTGTATAT others(49): Show GTGTATATATATGTGTATACATATATATATGTGTGTATACATATATATGT GTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	120	0.0083	-56	c.757 others(75): Show c.757+21931_757+21986delGTATATATATGTGTATACATATATAT ATGTGTGTATACATATATATGTGTGTGTAT		ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr6	TogoVar
ADK_chr10_74146221_74714290	74300259	TTTCCTTC others(49): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0136 a0001c0002t0004g0136	1	200	0.0050	-56	c.195 others(75): Show c.195-14361_195-14306delCCTTCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTT		ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74302053	TTTTTTTA others(49): Show TTTTTTTAAAGCTTATTTTTGCTTTCTTTTCTTTTCTGTTTTTTTTTTGT TTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0136 a0001c0002t0004g0136	1	200	0.0050	-56	c.195 others(75): Show c.195-12607_195-12552delAAAGCTTATTTTTGCTTTCTTTTCTT TTCTGTTTTTTTTTTGTTTGTTTGTTTTTT		ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADORA3_chr1_111494429_111508633	111502230	GAATATAT others(49): Show GAATATATAGGATATATTTATTATAATAAATATATAGGATATATATTCAT TATAATA	G G	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	458	0.0022	-56	c.350 others(71): Show c.350+719_350+774delTATTATAATGAATATATATCCTATATATTT ATTATAATAAATATATCCTATATATT		ADORA3	ENSG00000282608.2	transcript	ENST00000241356.5	protein_coding	1/1						chr1	TogoVar
ADRA1D_chr20_4215630_4254287	4227651	TTTCCTTC others(49): Show TTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCTCTCCCTCCCTCCC TCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG02615.hp1 others(4): Show HG01515.hp1 HG01517.hp1 HG02615.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0003g0148 a0001c0001t0004g0340 a0001c0001t0004g0341 others(3): Show a0001c0001t0003g0148 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0354 a0001c0001t0006g0031 a0001c0001t0006g0337	7	452	0.0155	-56	c.111 others(75): Show c.1112-5577_1112-5522delGGAGGGAGGGAGGGAGGGAGAGAGGG AAGGAAGGAAGGAAGGAGGGAAGGAAGGAA		ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1						chr20	TogoVar
AFDN_chr6_167821911_167977023	167940622	GGTGAGGG others(49): Show GGTGAGGGTGGAAGCCATCCACAGGAGACATGTGGACAGACACAGAGGGA TGTAGGT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0011 a0010c0023t0011	a0010c0023t0011g0272 a0010c0023t0011g0272	1	326	0.0031	-56	c.310 others(75): Show c.3100-2494_3100-2439delGCCATCCACAGGAGACATGTGGACAG ACACAGAGGGATGTAGGTGTGAGGGTGGAA		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33					INFO_REALIGN_3_PRIME	chr6	TogoVar
AFDN_chr6_167821911_167977023	167940841	GGATGTAG others(49): Show GGATGTAGGGGTGAGGGTGGAAGCCATCCACAGGAGACATATGGACAGAC ACAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0011 a0010c0023t0011	a0010c0023t0011g0272 a0010c0023t0011g0272	1	326	0.0031	-56	c.310 others(75): Show c.3100-2266_3100-2211delGCCATCCACAGGAGACATATGGACAG ACACAGAGAGATGTAGGGGTGAGGGTGGAA		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33					INFO_REALIGN_3_PRIME	chr6	TogoVar
AFDN_chr6_167821911_167977023	167941253	ATGAGGGT others(49): Show ATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGACACAGAGGGAT GTAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0001 a0007c0021t0001	a0007c0021t0001g0203 a0007c0021t0001g0203	1	326	0.0031	-56	c.310 others(75): Show c.3100-1843_3100-1788delGACAGACACAGAGGGATGTAGGGGTG AGGGTGGAAACCATCCACAGGAGAGATGTG		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33					INFO_REALIGN_3_PRIME	chr6	TogoVar
AGBL1_chr15_86074871_86921156	86827431	ACATATAT others(49): Show ACATATATATATGTGTGTGTATATATATATATATATATACATATATATAT ATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03471.hp2 NA18906.hp1 HG02895.hp2 HG03471.hp2 NA18906.hp1	a0001 a0017 a0001 a0017	a0001c0002 a0001c0007 a0017c0028 a0001c0002 a0001c0007 a0017c0028	a0001c0002t0022 a0001c0007t0029 a0017c0028t0013 a0001c0002t0022 a0001c0007t0029 a0017c0028t0013	a0001c0002t0022g0041 a0001c0007t0029g0115 a0017c0028t0013g0131 a0001c0002t0022g0041 a0001c0007t0029g0115 a0017c0028t0013g0131	3	132	0.0227	-56	c.315 others(77): Show c.3159-79655_3159-79600delCATATATATATGTGTGTGTATATA TATATATATATATACATATATATATATATGTG		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22						chr15	TogoVar
AGFG1_chr2_227467156_227566217	227553459	GGACTCTG others(49): Show GGACTCTGGCCTGGGTAATAGAGTGAGATCATGTCTCAAAAAAAAAAAAA AAAAGGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02559.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0024 a0001c0001t0018g0025 a0001c0001t0018g0024 a0001c0001t0018g0025	2	328	0.0061	-56	c.153 others(73): Show c.1538-244_1538-189delGACTCTGGCCTGGGTAATAGAGTGAGAT CATGTCTCAAAAAAAAAAAAAAAAAGGT		AGFG1	ENSG00000173744.18	transcript	ENST00000310078.13	protein_coding	11/12						chr2	TogoVar
AGMO_chr7_15195317_15567015	15322537	TATATATA others(49): Show TATATATATAAATATATATAAATATATAAATATATATAAATATATATAAA TATATAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00544.hp2 others(53): Show HG00280.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02559.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02895.hp1 HG02970.hp2 HG03490.hp1 HG03654.hp2 HG03834.hp1 HG04184.hp1 HG06807.hp2 NA18612.hp2 NA18943.hp1 NA18946.hp1 NA18951.hp2 NA18971.hp2 NA19009.hp2 NA19012.hp2 NA19063.hp1 NA19066.hp2 NA19084.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0003 a0013c0017 a0001c0001 a0001c0003 a0013c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0013c0017t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(53): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0221 a0001c0001t0002g0037 a0001c0001t0002g0053 a0001c0001t0002g0069 a0001c0001t0002g0085 a0001c0001t0002g0094 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0127 a0001c0001t0006g0231 a0001c0003t0001g0146 a0001c0003t0001g0165 a0013c0017t0001g0171	56	236	0.2373	-56	c.126 others(77): Show c.1263+42921_1263+42976delTTATATATTTATATATATTTATAT ATATTTATATATTTATATATATTTATATATAT		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
AGMO_chr7_15195317_15567015	15354448	GTGTGTAT others(49): Show GTGTGTATACACACGTGTGTGTATACACACGTGTGTATATACACACGTGT ATATATA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	236	0.0042	-56	c.126 others(77): Show c.1263+11010_1263+11065delTATATATACACGTGTGTATATACA CACGTGTGTATACACACACGTGTGTATACACA		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
AGXT_chr2_240863824_240885500	240879898	CCGTCGTG others(49): Show CCGTCGTGGGCGCCGGTGTGTCTTTGTTGCTGAGTGCCGTCCCGTCATAT GGACGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0028 a0001c0025t0028	a0001c0025t0028g0112 a0001c0025t0028g0112	1	444	0.0023	-56	c.11 others(67): Show c.1101_*1156delTGTTGCTGAGTGCCGTCCCGTCATATGGACGTGC GTCGTGGGCGCCGGTGTGTCTT		AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	11/11				1101	INFO_REALIGN_3_PRIME	chr2	TogoVar
AHRR_chr5_316714_443285	370112	GAAGCCCC others(49): Show GAAGCCCCGTCCTCCCGGGCCCTCGCTGGTGCCCCGTCCTCCCGGGCCCT CGCTGGA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0014 a0004c0003t0014	a0004c0003t0014g0220 a0004c0003t0014g0220	1	268	0.0037	-56	c.245 others(73): Show c.245-6496_245-6441delAGCCCCGTCCTCCCGGGCCCTCGCTGGT GCCCCGTCCTCCCGGGCCCTCGCTGGAA		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	397815	GTAGCTCC others(49): Show GTAGCTCCTGACCGTCCATGTTAGCCCCTGACCATGTTAGCCCCTGACCA TCCCTGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	268	0.0037	-56	c.352 others(75): Show c.352-15524_352-15469delTCCTGACCGTCCATGTTAGCCCCTGA CCATGTTAGCCCCTGACCATCCCTGTTAGC		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AKAP17A_chrX_1586604_1607520	1589084	CCTCCCCT others(49): Show CCTCCCCTCCCTTCCCCTCCCCTCCCCTCCTTTCCCTTCCCCTCCCCTCC TCTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0072 a0002c0003t0002g0072	1	151	0.0066	-56	c.-27 others(67): Show c.-2704_-2649delCTCCCCTCCCTTCCCCTCCCCTCCCCTCCTTTCC CTTCCCCTCCCCTCCTCTCCCT		AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding					2519		chrX	TogoVar
ALDH1A1_chr9_72895671_72958053	72908504	GACGAAAG others(49): Show GACGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA AGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	306	0.0033	-56	c.135 others(75): Show c.1358+1042_1358+1097delTCTTTCTTCTTTCTTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCGT		ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12						chr9	TogoVar
ALDH1A1_chr9_72895671_72958053	72908506	CGAAAGAA others(49): Show CGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAG AAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	306	0.0033	-56	c.135 others(75): Show c.1358+1040_1358+1095delTTTCTTTCTTCTTTCTTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC		ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12						chr9	TogoVar
ALG12_chr22_49895229_49923438	49901503	TGATTGCA others(49): Show TGATTGCATTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCATTGTG TGTGCAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0134 a0001c0001t0053g0134	1	348	0.0029	-56	c.22 others(67): Show c.2279_*2334delGTGCACACACAATGCACACGTGCACACACCATGC ATACACACCACACAATGCAATC		ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	10/10				2279		chr22	TogoVar
ALG6_chr1_63362627_63443553	63400241	ATACGTAT others(49): Show ATACGTATATATATGTATATATATATACGTATATATATATACGTATATAT ATATACG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01952.hp2 HG02004.hp2 others(2): Show HG01496.hp2 HG01952.hp2 HG02004.hp2 HG02293.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 others(2): Show a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310	5	388	0.0129	-56	c.168 others(73): Show c.168-2010_168-1955delCGTATATATATGTATATATATATACGTA TATATATATACGTATATATATATACGTA		ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
AMBN_chr4_70587256_70612288	70606275	GCTATGGG others(49): Show GCTATGGGCGGTGACTTCACTCTGGAATTTGACTCCCCAGTGGCTGCCAC CAAAGGC	G G	frameshift_variant frameshift_variant	HIGH	NA18970.hp1 NA18970.hp1	a0020 a0020	a0020c0028 a0020c0028	a0020c0028t0001 a0020c0028t0001	a0020c0028t0001g0059 a0020c0028t0001g0059	1	480	0.0021	-56	c.891 others(63): Show c.891_946delTATGGGCGGTGACTTCACTCTGGAATTTGACTCCCCAG TGGCTGCCACCAAAGGCC	p.Met others(5): Show p.Met298fs	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	994/2005	891/1344	297/447		INFO_REALIGN_3_PRIME	chr4	TogoVar
AMBN_chr4_70587256_70612288	70606698	ATGCATGA others(49): Show ATGCATGACGCATGGCATTTCCAAGAGCCCTGACAGCTCTAAGATATTAG CTACTTT	A A	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	NA18946.hp1 NA18946.hp1	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0009 a0017c0026t0009	a0017c0026t0009g0186 a0017c0026t0009g0186	1	480	0.0021	-56	c.131 others(64): Show c.1313_*24delTGCATGACGCATGGCATTTCCAAGAGCCCTGACAGCT CTAAGATATTAGCTACTTT	p.Met others(5): Show p.Met438fs	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	13/13	1416/2005	1313/1344	438/447			chr4	TogoVar
AMTN_chr4_70513569_70537743	70516348	ATATACAT others(49): Show ATATACATATATATGTATATATATACATGTATATATATACGTATATATAT ATATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0026 a0002c0003t0001g0026	1	458	0.0022	-56	c.-23 others(67): Show c.-2321_-2266delTATACATATATATGTATATATATACATGTATATA TATACGTATATATATATATACG		AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding					2220		chr4	TogoVar

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