Joint Open Genome and Omics Platform (JoGo)

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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
SMYD3_chr1_245744347_246512279	245975133	T T	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCAGCCC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	113	0.0088	48	c.532 others(67): Show c.532-45197_532-45196insGGGCTGGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975205	C C	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0149 a0002c0004t0001g0149	1	130	0.0077	48	c.532 others(67): Show c.532-45269_532-45268insAGGCTAGAGACGATGGCTTTCCCTGG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975369	G G	GGCCCAGG others(41): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18984.hp2 HG03225.hp1 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0007 a0002c0003t0001g0126 a0001c0001t0001g0007 a0002c0003t0001g0126	2	135	0.0148	48	c.532 others(67): Show c.532-45433_532-45432insTAGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975421	C C	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	135	0.0074	48	c.532 others(67): Show c.532-45485_532-45484insAGGCCGGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975440	T T	TAGCCCAG others(41): Show TAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	100	0.0100	48	c.532 others(67): Show c.532-45504_532-45503insGGAGACGATGGCTTTCCCTGGGCCGG AGACGATGGCTTTCCCTGGGCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975565	T T	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02615.hp2 HG00738.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0084 a0001c0001t0001g0093	2	107	0.0187	48	c.532 others(67): Show c.532-45629_532-45628insGGGCCGGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975633	G G	GGCCCAGG others(41): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG02273.hp1 others(1): Show HG00544.hp1 HG00735.hp1 HG02273.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0090 others(1): Show a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0090 a0001c0002t0002g0041	4	123	0.0325	48	c.532 others(67): Show c.532-45697_532-45696insTAGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975633	G G	GGCCCAGG others(41): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0068 a0001c0006t0001g0068	1	120	0.0083	48	c.532 others(67): Show c.532-45697_532-45696insTAGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975637	T T	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02970.hp1 HG00544.hp1 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0002 a0001c0002t0002 a0002c0003t0002	a0001c0002t0002g0041 a0002c0003t0002g0131 a0001c0002t0002g0041 a0002c0003t0002g0131	2	97	0.0206	48	c.532 others(67): Show c.532-45748_532-45701dupGGGCCGGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975705	G G	GGCCCAGG others(41): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0129 a0002c0003t0002g0129	1	129	0.0078	48	c.532 others(67): Show c.532-45769_532-45768insTAGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975781	T T	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	107	0.0093	48	c.532 others(67): Show c.532-45845_532-45844insGGGCCGGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975825	G G	GGCCCAGG others(41): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	135	0.0074	48	c.532 others(67): Show c.532-45889_532-45888insTAGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975829	C C	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG02615.hp2 others(1): Show HG00738.hp1 HG01433.hp1 HG02615.hp2 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0001c0001t0001 a0002c0003t0001 a0002c0004t0001	a0001c0001t0001g0084 a0001c0001t0001g0093 a0002c0003t0001g0101 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0093 a0002c0003t0001g0101 a0002c0004t0001g0132	4	139	0.0288	48	c.532 others(67): Show c.532-45893_532-45892insAGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975993	G G	GGCCTAGG others(41): Show GGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0149 a0002c0004t0001g0149	1	129	0.0078	48	c.532 others(67): Show c.532-46057_532-46056insTAGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976021	T T	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0001 a0001c0006t0003g0001	1	110	0.0091	48	c.532 others(67): Show c.532-46085_532-46084insGGGCCGGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976089	G G	GGCCCAGG others(41): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0108 a0002c0003t0001g0108	1	133	0.0075	48	c.532 others(67): Show c.532-46153_532-46152insTAGAGACGATGGCTTTCCCTGGGCTA GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976093	C C	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02273.hp1 HG03017.hp2 HG01496.hp1 HG02273.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0082 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0001g0082 a0001c0001t0002g0087 a0001c0001t0002g0090	3	136	0.0221	48	c.532 others(67): Show c.532-46157_532-46156insAGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976137	G G	GGCCCAGG others(41): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0125 a0002c0003t0002g0125	1	117	0.0085	48	c.532 others(67): Show c.532-46201_532-46200insTAGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976141	C C	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0001 a0001c0006t0003g0001	1	120	0.0083	48	c.532 others(67): Show c.532-46205_532-46204insAGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976305	A A	AGCCTAGG others(41): Show AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0143 a0002c0004t0001g0143	1	114	0.0088	48	c.532 others(67): Show c.532-46369_532-46368insCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976309	C C	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0149 a0002c0004t0001g0149	1	116	0.0086	48	c.532 others(67): Show c.532-46373_532-46372insAGGCCGGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976429	T T	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	113	0.0088	48	c.532 others(67): Show c.532-46493_532-46492insGGGCCGGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976453	C C	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0068 a0001c0006t0001g0068	1	130	0.0077	48	c.532 others(67): Show c.532-46517_532-46516insAGGCCGGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976477	C C	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0128 a0002c0004t0001g0128	1	123	0.0081	48	c.532 others(67): Show c.532-46541_532-46540insAGGCTAGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976545	A A	AGCCCAGG others(41): Show AGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp2 HG03209.hp1 HG02145.hp1 HG02647.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0002c0005 a0001c0006 a0002c0003 a0002c0005	a0001c0006t0003 a0002c0003t0001 a0002c0005t0001 a0001c0006t0003 a0002c0003t0001 a0002c0005t0001	a0001c0006t0003g0001 a0002c0003t0001g0121 a0002c0005t0001g0113 a0001c0006t0003g0001 a0002c0003t0001g0121 a0002c0005t0001g0113	3	120	0.0250	48	c.532 others(67): Show c.532-46609_532-46608insCGGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976549	T T	TAGGGAAA others(41): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0123 a0002c0005t0001g0123	1	107	0.0093	48	c.532 others(67): Show c.532-46613_532-46612insGGGCCGGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976592	C C	CGGCCCAG others(41): Show CGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02615.hp2 HG03225.hp1 HG00738.hp1 HG02615.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0084 a0001c0001t0001g0093 a0002c0003t0001g0126 a0001c0001t0001g0084 a0001c0001t0001g0093 a0002c0003t0001g0126	3	104	0.0288	48	c.532 others(67): Show c.532-46656_532-46655insAGAGACGATGGCTTTCCCTAGGCTAG AGACGATGGCTTTCCCTGGGCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976593	A A	AGCCCAGG others(41): Show AGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	99	0.0101	48	c.532 others(67): Show c.532-46657_532-46656insCGGAGACGATGGCTTTCCCTGGGCTG GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976593	A A	AGCCCAGG others(41): Show AGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	99	0.0101	48	c.532 others(67): Show c.532-46657_532-46656insCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976597	C C	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	125	0.0080	48	c.532 others(67): Show c.532-46661_532-46660insAGGCCGGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976621	C C	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	127	0.0079	48	c.532 others(67): Show c.532-46685_532-46684insAGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976621	C C	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTGGCCT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0050 a0005c0013t0002g0050	1	127	0.0079	48	c.532 others(67): Show c.532-46685_532-46684insAGGCCAGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976641	A A	AGCCCAGG others(41): Show AGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0050 a0005c0013t0002g0050	1	114	0.0088	48	c.532 others(67): Show c.532-46705_532-46704insCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976713	A A	AGCCTAGG others(41): Show AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	123	0.0081	48	c.532 others(67): Show c.532-46777_532-46776insCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976717	C C	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0113 a0002c0005t0001g0113	1	115	0.0087	48	c.532 others(67): Show c.532-46781_532-46780insAGGCTAGAGACGATGGCTTTCCCTGG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976809	A A	AGCCCAGG others(41): Show AGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0143 a0002c0004t0001g0143	1	123	0.0081	48	c.532 others(67): Show c.532-46873_532-46872insCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976977	G G	GGCCCAGG others(41): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	114	0.0088	48	c.532 others(67): Show c.532-47041_532-47040insTAGAGACGATGGCTTTCCCTAGGCCG GAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245977053	C C	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02004.hp1 HG00735.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0002g0021 a0001c0001t0001g0011 a0001c0001t0002g0021	2	100	0.0200	48	c.532 others(67): Show c.532-47117_532-47116insAGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245977053	C C	CAGGGAAA others(41): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0149 a0002c0004t0001g0149	1	99	0.0101	48	c.532 others(67): Show c.532-47117_532-47116insAGGCTAGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246348077	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATACACACATACATAC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0055 a0001c0014t0002g0055	1	49	0.0204	48	c.228 others(65): Show c.228+6953_228+6954insGTATGTATGTGTGTATATATATATATAT ATATATATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	2/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246478745	T T	TCCTGGAG others(41): Show TCCTGGAGCTGGTACGTAAGTGCTCATATATGCACACCTGTCCTCCGTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0014 a0001c0006t0001g0014	1	5	0.2000	48	c.164 others(67): Show c.164+28308_164+28309insGACGGAGGACAGGTGTGCATATATGA GCACTTACGTACCAGCTCCAGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246478745	T T	TCCTGGAG others(41): Show TCCTGGAGCTGGTACGTAAGTGCTCATATATGCACACCTGTCCTCCGTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00738.hp1 others(17): Show HG00140.hp2 HG00408.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01496.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02165.hp1 HG02273.hp1 HG02300.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03491.hp1 HG03831.hp1 NA19000.hp2 NA19088.hp1 NA19240.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0004c0010 others(1): Show a0001c0001 a0001c0002 a0004c0010 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0004c0010t0001 a0005c0013t0002	a0001c0001t0001g0029 a0001c0001t0001g0080 a0001c0001t0001g0082 others(17): Show a0001c0001t0001g0029 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0046 a0001c0001t0002g0076 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0002t0001g0062 a0001c0002t0001g0086 a0001c0002t0002g0061 a0001c0002t0002g0083 a0004c0010t0001g0077 a0005c0013t0002g0050	20	24	0.8333	48	c.164 others(67): Show c.164+28308_164+28309insAACGGAGGACAGGTGTGCATATATGA GCACTTACGTACCAGCTCCAGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNAPC4_chr9_136370571_136405170	136403369	C C	CGGGGGAG others(41): Show CGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG04204.hp1 HG02809.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0084 a0001c0001t0001g0035 a0001c0001t0001g0084	2	322	0.0062	48	c.-32 others(59): Show c.-3293_-3246dupCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTG TCCCTTTCTCCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3200		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403416	C C	CGGGGAAG others(41): Show CGGGGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	327	0.0031	48	c.-33 others(59): Show c.-3340_-3293dupCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTG TCCCTTTCTTCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3247		chr9	TogoVar
SNED1_chr2_240993618_241100568	241030901	T T	TTCCTTGA others(41): Show TTCCTTGATAATGCCAAACATGACAGAAACATTGACTCAAGAATAATCA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0110 a0005c0007t0001g0110	1	342	0.0029	48	c.501 others(63): Show c.501+331_501+378dupTCCTTGATAATGCCAAACATGACAGAAACA TTGACTCAAGAATAATCA	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNIP1_chr1_37529449_37559293	37535230	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG03688.hp1 NA18980.hp1 HG02615.hp1 HG03688.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0156 a0001c0001t0025g0170 a0001c0001t0025g0187 a0001c0001t0025g0156 a0001c0001t0025g0170 a0001c0001t0025g0187	3	286	0.0105	48	c.25 others(59): Show c.2517_*2518insTATATATATATATATATATATATATATATATATA TATATATATATATA	SNIP1	ENSG00000163877.11	transcript	ENST00000296215.8	protein_coding	4/4	2517		chr1	TogoVar
SNTB2_chr16_69182164_69314052	69292395	T T	TATATATT others(41): Show TATATATTATATATATATATATTATATATATATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp2 HG02572.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0064 a0001c0002t0015g0066 a0001c0002t0015g0064 a0001c0002t0015g0066	2	216	0.0093	48	c.134 others(67): Show c.1346-7189_1346-7188insTATATATATATATATTATATATATAT AATATATATATATATAATATAT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TCTTTTCT others(41): Show TCTTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0076 a0001c0002t0014g0076	1	34	0.0294	48	c.-10 others(69): Show c.-103+26372_-103+26373insCTTTTCTTTTTTTTCTTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18			chr8	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTCTTT others(41): Show TTTTCTTTTCTTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA18952.hp1 HG01071.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0042 a0001c0001t0003g0019 a0001c0001t0002g0042 a0001c0001t0003g0019	2	35	0.0571	48	c.-10 others(69): Show c.-103+26379_-103+26380insTCTTTTCTTTTTTTTCTTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1031508	T T	TTTTATAT others(41): Show TTTTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0033 a0006c0010t0001g0033	1	170	0.0059	48	c.73- others(65): Show c.73-52009_73-52008insTTATATATATATATATATATATATATAT ATATATATATATATATATAT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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