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
TMEM185A_chrX_149591556_149636792	149605436	A A	ACTTTCTA others(217): Show ACTTTCTATGGCCTCCCTTGTCACTTTCTATGGCCTCCCATGTCACTTTC TATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCTATAGC CTCCCATGTCACTTTCTATGGCCTCCCTTGTCACTTTCTATGGCCTCCCA TGTCACTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCAC TTTCTATAGCCTCCCATGTCACTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0190 a0001c0001t0006g0190	1	259	0.0039	224	c.424 others(241): Show c.424-1367_424-1366insAAAGTGACATGGGAGGCTATAGAAAGTG ACATGGGAGGCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACATGG GAGGCCATAGAAAGTGACAAGGGAGGCCATAGAAAGTGACATGGGAGGCT ATAGAAAGTGACATGGGAGGCCATAGAAAGTGACATGGGAGGCCATAGAA AGTGACATGGGAGGCCATAGAAAGTGACAAGGGAGGCCATAGAAAG	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TMEM232_chr5_110414496_110731671	110610240	A A	AAGGAAGG others(217): Show AAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGA GGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGG GAGGAAGGGAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0016 a0016	a0016c0020 a0016c0020	a0016c0020t0004 a0016c0020t0004	a0016c0020t0004g0210 a0016c0020t0004g0210	1	250	0.0040	224	c.903 others(241): Show c.903-3954_903-3953insCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCC CTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCT	TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	8/13			chr5	TogoVar
TMEM51_chr1_15148747_15225478	15225218	G G	GGGGGAGG others(217): Show GGGGGAGGGTGGAGGGGATGGGAGGGAGGGGGAGGGGAGGGAGGGGGAGG GGAGGGAGAGGGAAGGGAGGGGAGGGAGGGGGAGGGGGAGGGGACAGGAG GGAAGTGAGGGGGAGGGGATGTGAGGGGGGAGGGAGAGGGGAGGGGGAAG GGGAGGGAGGGAGTGGGGGGAGGGAGTGGGGGAGGGGAGAGGGGGAGGGG AGGGAGTGAGGGGGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	298	0.0034	224	c.54 others(235): Show c.5475_*5476insGGGGAGGGTGGAGGGGATGGGAGGGAGGGGGAGG GGAGGGAGGGGGAGGGGAGGGAGAGGGAAGGGAGGGGAGGGAGGGGGAGG GGGAGGGGACAGGAGGGAAGTGAGGGGGAGGGGATGTGAGGGGGGAGGGA GAGGGGAGGGGGAAGGGGAGGGAGGGAGTGGGGGGAGGGAGTGGGGGAGG GGAGAGGGGGAGGGGAGGGAGTGAGGGGGAGGGGAGGGGA	TMEM51	ENSG00000171729.14	transcript	ENST00000376008.3	protein_coding		4741		chr1	TogoVar
TMPRSS9_chr19_2355265_2431261	2418692	T T	TCCCTCCA others(217): Show TCCCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTAC CTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTC CCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTC CCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTCCCTACCTCC CCTTCCCTCCCTACCTCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp2 HG03017.hp1 others(3): Show HG00741.hp2 HG01071.hp2 HG03017.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0002 a0002c0005t0002 a0001c0004t0002 a0002c0005t0002	a0001c0004t0002g0005 a0001c0004t0002g0036 a0001c0004t0002g0037 others(3): Show a0001c0004t0002g0005 a0001c0004t0002g0036 a0001c0004t0002g0037 a0001c0004t0002g0039 a0001c0004t0002g0040 a0002c0005t0002g0041	6	114	0.0526	224	c.215 others(241): Show c.2154+554_2154+555insCCCTCCACTTCCTTCCCTCCCTCTTTCC TTCCCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCC TCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCC TACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACC TCTCCTTTCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18			chr19	TogoVar
TOLLIP_chr11_1269371_1314632	1287395	G G	GCCTCCCC others(217): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	348	0.0029	224	c.519 others(241): Show c.519+1228_519+1229insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287409	G G	GCCTCCCC others(217): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0119 a0001c0002t0008g0119	1	348	0.0029	224	c.519 others(241): Show c.519+1214_519+1215insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287535	G G	GCCTCCCC others(217): Show GCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CCCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCCCAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0136 a0001c0002t0002g0136	1	348	0.0029	224	c.519 others(241): Show c.519+1088_519+1089insGTGGGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287577	C C	CCCTCCCC others(217): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCTGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	348	0.0029	224	c.519 others(241): Show c.519+1046_519+1047insCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCA GAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287722	T T	TCCGCCGC others(217): Show TCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGC ACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCC CGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCG CCGCAGCCTCCCCGCCGCAGCCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0094 a0001c0002t0013g0094	1	348	0.0029	224	c.519 others(239): Show c.519+901_519+902insGGAGGCTGCGGCGGGGAGGCTGCGGCGGGG AGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCG GCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAG GCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGC GGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287794	T T	TGCCGCAG others(217): Show TGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCG CCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCTGCACCC TCTCTGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCC GCAGCCTCCCCGCCGCACCCTCCCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	348	0.0029	224	c.519 others(239): Show c.519+829_519+830insGGGGAGGGTGCGGCGGGGAGGCTGCGGCGG GGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCAGAGAGGGTG CAGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGG AGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCG GCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287820	C C	CCCGCCGC others(217): Show CCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGC AGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCC CGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCG CCGCAGCCTCCCCGCCGCAGCCTCA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	348	0.0029	224	c.519 others(239): Show c.519+803_519+804insTGAGGCTGCGGCGGGGAGGCTGCGGCGGGG AGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCG GCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAG GCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGC GGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAG others(217): Show CGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAG CCTCCCCGCCCCACCCTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCG CCCCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCC TCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCC GCACCCTCCCTGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0250 a0001c0002t0002g0250	1	348	0.0029	224	c.519 others(239): Show c.519+787_519+788insAGAGAGGGTGCGGCAGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGG AGGCTGCGGCGGAGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCG GCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAG others(217): Show CGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAG CCTCCCCGCCCCACCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCG CCCCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCC TCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCC GCACCCTCCCTGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0256 a0001c0002t0002g0256	1	348	0.0029	224	c.519 others(239): Show c.519+787_519+788insAGAGAGGGTGCGGCAGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGG AGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCG GCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930749	G G	GGGAGGCC others(217): Show GGGAGGCCGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGG GAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CAGGGGTTAGGGAGGCCAGGGTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01993.hp1 HG02027.hp2 others(5): Show HG01928.hp1 HG01993.hp1 HG02027.hp2 HG02165.hp1 NA18977.hp1 NA18992.hp1 NA18995.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 a0002c0002t0008	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0094 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0094 a0001c0001t0003g0002 a0001c0001t0022g0087 a0002c0002t0008g0038	8	466	0.0172	224	c.48 others(235): Show c.4841_*4842insTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTA ACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTACCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCGGCCTCCCTAA CCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCGGCCTCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4620		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930749	G G	GGGAGGCC others(217): Show GGGAGGCCGGGGTTAGGGAGGCCGGGGTAGGGAGGCTGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGG GAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CAGGGGTTAGGGAGGCCAGGGTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	466	0.0022	224	c.48 others(235): Show c.4841_*4842insTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTA ACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTACCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCGGCCTCCCTAA CCCCAGCCTCCCTACCCCGGCCTCCCTAACCCCGGCCTCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4620		chr11	TogoVar
TPO_chr2_1408463_1548673	1532533	A A	ACCCCCCC others(217): Show ACCCCCCCCGTGCAGCCTCCCCATATCCCCCCAACTCTGTGCAACCTCCC GAAAACACCCCTCACTGTGTGCAACCTCGCGCAATCACGACACTGTGTGC AACCTCCCCAAATCACCCCCACTCTCTGCAACCTCCCCAAGTCTCCCACA CTCTGTGCAACCTCCTCAAATCCCCCCACTGTTTGCAACCTCCCAAAATC TCCCTATGTGCAACCTCGCAAAATC	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18612.hp2 HG00423.hp1 NA18612.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0096 a0003c0006t0004g0097	2	130	0.0154	224	c.261 others(243): Show c.2619-8061_2619-8060insCCCCCCCCGTGCAGCCTCCCCATATC CCCCCAACTCTGTGCAACCTCCCGAAAACACCCCTCACTGTGTGCAACCT CGCGCAATCACGACACTGTGTGCAACCTCCCCAAATCACCCCCACTCTCT GCAACCTCCCCAAGTCTCCCACACTCTGTGCAACCTCCTCAAATCCCCCC ACTGTTTGCAACCTCCCAAAATCTCCCTATGTGCAACCTCGCAAAATC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TPSD1_chr16_1251069_1264008	1254974	A A	ACCATGGG others(217): Show ACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCT GGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGACTAGTTCA TGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGGC TGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGGTGAGTCCATGGGG AGCTGGGCTGGGGCTGGGGGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	270	0.0037	224	c.-13 others(235): Show c.-1307_-1306insCCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCC ATGGGGAGCTGGGCTGGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGG GCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGG GGAGCTGGGCTGGGCTGGGACTAGTTCATGGGGAGCTGGGCTGGGGCTGG GGTGAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGT	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding		1094		chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258758	G G	GCCCCTCC others(217): Show GCCCCTCCCCCACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCA CCCTGAGCCCCTTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCCT CCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCTTCCCCTTTCTTGAG TCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACC CTCAGCCCCCTCCCCTTTCTTGAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01891.hp2 others(3): Show HG01069.hp1 HG01071.hp1 HG01891.hp2 HG02486.hp2 HG03540.hp1 HG06807.hp2	a0003 a0010 a0003 a0010	a0003c0006 a0010c0014 a0003c0006 a0010c0014	a0003c0006t0009 a0010c0014t0045 a0003c0006t0009 a0010c0014t0045	a0003c0006t0009g0007 a0010c0014t0045g0021 a0003c0006t0009g0007 a0010c0014t0045g0021	6	270	0.0222	224	c.38 others(233): Show c.382_*383insCCCCTCCCCCACCCTCAGCCCCCTCCCCTTTCTTGA GCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGCCCCTCCTCCA CCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCTT CCCCTTTCTTGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAG CCCCTCCTCCACCCTCAGCCCCCTCCCCTTTCTTGAGC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	383		chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258758	G G	GCCCCTCC others(217): Show GCCCCTCCCCCACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCA CCCTGAGCCCCTTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCCT CCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCTTCCCCTTTCTTGAG TCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACC CTCAGCCCCCTTCCCTTTCTTGAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0029 a0003c0006t0029	a0003c0006t0029g0007 a0003c0006t0029g0007	1	270	0.0037	224	c.38 others(233): Show c.382_*383insCCCCTCCCCCACCCTCAGCCCCCTCCCCTTTCTTGA GCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGCCCCTCCTCCA CCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCTT CCCCTTTCTTGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAG CCCCTCCTCCACCCTCAGCCCCCTTCCCTTTCTTGAGC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	383		chr16	TogoVar
TRAF6_chr11_36478769_36515272	36507587	G G	GTATCTAC others(217): Show GTATCTACATGTGTACACATGTATATACGTATACATGTGTACACATGTGT ATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACACATGT GTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACACAT GTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACAC ATGTATGTATGTGTATATATGTATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18965.hp2 HG02056.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0216 a0001c0001t0001g0217	2	388	0.0052	224	c.-23 others(241): Show c.-23+2460_-23+2461insTATACATATATACACATACATACATGTG TACACATGTATACGTATACACATGTGTACACATGTATACGTATACACATG TGTACACATGTATACGTATACACATGTGTACACATGTATACGTATACACA TGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATACA CATGTGTACACATGTATACGTATATACATGTGTACACATGTAGATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507587	G G	GTATCTAC others(217): Show GTATCTACATGTGTACACATGTGTATACGTATACATGTGTACACATGTGT ATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACACATGT GTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACACAT GTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACAC ATGTATGTATGTGTATATATGTATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01168.hp2 HG02148.hp1 others(1): Show HG01070.hp2 HG01168.hp2 HG02148.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0068 a0001c0001t0001 a0001c0001t0068	a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 others(1): Show a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0068g0334	4	388	0.0103	224	c.-23 others(241): Show c.-23+2460_-23+2461insTATACATATATACACATACATACATGTG TACACATGTATACGTATACACATGTGTACACATGTATACGTATACACATG TGTACACATGTATACGTATACACATGTGTACACATGTATACGTATACACA TGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATACA CATGTGTACACATGTATACGTATACACATGTGTACACATGTAGATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM4_chr7_99885403_99924530	99887905	A A	ACCTCCCG others(217): Show ACCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	322	0.0031	224	c.42 others(235): Show c.4257_*4258insGAGGTAGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGG GGGTCAGCCCCCCACCCGGCCAGCCGCCCTGTCCGGGAGG	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		2497		chr7	TogoVar
TRIM4_chr7_99885403_99924530	99887905	A A	ACCTCCCG others(217): Show ACCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(90): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01081.hp1 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02602.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp2 NA19078.hp2 NA19080.hp2 NA19083.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0011 a0001c0013 others(2): Show a0001c0002 a0001c0011 a0001c0013 a0002c0004 a0007c0010	a0001c0002t0001 a0001c0011t0010 a0001c0013t0001 others(2): Show a0001c0002t0001 a0001c0011t0010 a0001c0013t0001 a0002c0004t0001 a0007c0010t0008	a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0019 others(34): Show a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0049 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0131 a0001c0011t0010g0046 a0001c0013t0001g0058 a0002c0004t0001g0007 a0002c0004t0001g0008 a0002c0004t0001g0031 a0002c0004t0001g0055 a0002c0004t0001g0067 a0002c0004t0001g0129 a0007c0010t0008g0045	93	322	0.2888	224	c.42 others(235): Show c.4257_*4258insGAGGTAGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGG GGGTCAGCCCCCCACCCGGCCAGCCGCCCTGTCCGGGAGG	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		2497		chr7	TogoVar
TRIM4_chr7_99885403_99924530	99887905	A A	ACCTCCCG others(217): Show ACCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGCTGACCCCCCTACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	322	0.0031	224	c.42 others(235): Show c.4257_*4258insGAGGTAGGGGGGTCAGCCCCCCACCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGG GGGTCAGCCCCCCACCCGGCCAGCCGCCCTGTCCGGGAGG	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		2497		chr7	TogoVar
TRIM4_chr7_99885403_99924530	99887905	A A	ACCTCCCG others(217): Show ACCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCC GGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCTACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01074.hp1 others(12): Show HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG02698.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0054 others(5): Show a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0132 a0001c0002t0012g0083	15	322	0.0466	224	c.42 others(235): Show c.4257_*4258insGAGGTAGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGCCAGCCG CCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGG GGGTCAGCCCCCCACCCGGCCAGCCGCCCTGTCCGGGAGG	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		2497		chr7	TogoVar
TRIM4_chr7_99885403_99924530	99887912	G G	GGACAGGG others(217): Show GGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCTACCTCCCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03540.hp1 HG02257.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0072 a0001c0002t0001g0074	2	322	0.0062	224	c.42 others(235): Show c.4250_*4251insTGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCTGTC	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		2490		chr7	TogoVar
TRIM4_chr7_99885403_99924530	99888316	G G	GGGGCGAC others(217): Show GGGGCGACTGGCTGGGCAGGGGGCTGACCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCTACCTCCCTCCCGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03927.hp1 HG03017.hp2 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0071 a0001c0002t0001g0064 a0001c0002t0001g0071	2	322	0.0062	224	c.38 others(235): Show c.3846_*3847insTGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCTCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGTCAGCCCCCTGCCCAGCCAGTCGCCC	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		2086		chr7	TogoVar
TSC2_chr16_2042985_2094491	2091266	G G	GGGGGCGG others(217): Show GGGGGCGGGACGCTGCCGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTGC GAGGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCT GCGAGGGGGCGGGACGCTGCCGGGGCGGGGCGCTGCGAGGGGGCGGGACG CTGCCGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGA CGCTGCGAGGGGGCGGGACGCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0014 a0001c0009t0014	a0001c0009t0014g0141 a0001c0009t0014g0141	1	318	0.0031	224	c.26 others(235): Show c.2656_*2657insGGGGCGGGACGCTGCCGGGGCGGGGCGCTGCGAG GGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTG CCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCGCTG CGAGGGGGCGGGACGCTGCCGGGGCGGGGCGCTGCGAGGGGGCGGGACGC TGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGACGCTGCC	TSC2	ENSG00000103197.19	transcript	ENST00000219476.9	protein_coding		1776		chr16	TogoVar
TSC2_chr16_2042985_2094491	2091266	G G	GGGGGCGG others(217): Show GGGGGCGGGACGCTGCCGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTGC GAGGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCT GCGAGGGGGCGGGACGCTGCCGGGGCGGGGCGCTGCGAGGGGGCGGGACG CTGCCGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGG CGCTGCGAGGGGGCGGGACGCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03486.hp1 HG02970.hp1 HG03486.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0014 a0001c0009t0014	a0001c0009t0014g0008 a0001c0009t0014g0008	2	318	0.0063	224	c.26 others(235): Show c.2656_*2657insGGGGCGGGACGCTGCCGGGGCGGGGCGCTGCGAG GGGGCGGGACGCTGCGAGGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTG CCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCGCTG CGAGGGGGCGGGACGCTGCCGGGGCGGGGCGCTGCGAGGGGGCGGGACGC TGCGAGGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTGCC	TSC2	ENSG00000103197.19	transcript	ENST00000219476.9	protein_coding		1776		chr16	TogoVar
TWIST2_chr2_238843085_238915534	238870316	C C	CACCACAC others(217): Show CACCACACACCCCCCACACACCACACACCATACACACCACACCCCACACA CACCACACCCCCCACACACCACACCCCATACACACCACACCCCACACACA CCACACACCCCCCACACACCACACACCCCACACACACCACACCCCATACA CACCACACCCCACACACACCACACACCCCCCACACACCACACACCCCACA CACACCACACCCCATACACACCACA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	338	0.0030	224	c.35 others(243): Show c.35+21583_*35+21584insACCACACACCCCCCACACACCACACA CCATACACACCACACCCCACACACACCACACCCCCCACACACCACACCCC ATACACACCACACCCCACACACACCACACACCCCCCACACACCACACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACACC CCCCACACACCACACACCCCACACACACCACACCCCATACACACCACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870988	C C	CCCCACAC others(217): Show CCCCACACACACCACACCCCACACACACCACACCCCATACACACCATACA CCCCCCACACACCACACCCCATACACACCACACACCCCACACACACCACA CCCCACACACACCAAACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCATACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	338	0.0030	224	c.35 others(243): Show c.35+22255_*35+22256insCCCACACACACCACACCCCACACACA CCACACCCCATACACACCATACACCCCCCACACACCACACCCCATACACA CCACACACCCCACACACACCACACCCCACACACACCAAACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCATACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355861	A A	ATATACGC others(217): Show ATATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA19011.hp2 NA18978.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0128 a0001c0001t0003g0122 a0001c0001t0003g0128	2	320	0.0063	224	c.-38 others(235): Show c.-3855_-3854insTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTG	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3738		chr11	TogoVar
UCN3_chr10_5359966_5379692	5369997	G G	GTATGTGT others(217): Show GTATGTGTGTGTATATGTGTGTGTGTATGTGTGTATATGCGTGTGTATAT GCGTGTGTATATGCGTGTGTATATGCGTGTATATGTGTGTGTATATGTGT GTGTGTGTATATGTGCGTGTATGTGTGCGTGTGTATATGTGCGTGTATGT GTGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTGTGTAT GTGTGTGTATGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02735.hp1 HG00741.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0224 a0001c0001t0006g0089 a0001c0001t0002g0224 a0001c0001t0006g0089	2	468	0.0043	224	c.-6- others(239): Show c.-6-3717_-6-3716insATGTGTGTGTATATGTGTGTGTGTATGTGT GTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTAT ATGTGTGTGTATATGTGTGTGTGTGTATATGTGCGTGTATGTGTGCGTGT GTATATGTGCGTGTATGTGTGTGTGTATATGTGTGTGTATATGTGTGTGT ATATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UMAD1_chr7_7635752_7884223	7678645	T T	TATATTTA others(217): Show TATATTTATATACTTAATTTATAGATAAATATATATTTATATACTTAATT TATAGATAAATATATATTTATATACTTAATTTATAGATAAATATATATTT ATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATAT ATTTATGTATTTAGTTTATAAATATATATTTATGTATTTAGTTTATAAAT ATATATTTATGTATTTAGTTTATAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0041 a0001c0004t0041	a0001c0004t0041g0210 a0001c0004t0041g0210	1	250	0.0040	224	c.82+ others(239): Show c.82+5203_82+5204insCTTAATTTATAGATAAATATATATTTATAT ACTTAATTTATAGATAAATATATATTTATATACTTAATTTATAGATAAAT ATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTAT AAATATATATTTATGTATTTAGTTTATAAATATATATTTATGTATTTAGT TTATAAATATATATTTATGTATTTAGTTTATAAATATTTATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UPF3A_chr13_114276601_114310817	114295331	A A	AGCTCTGG others(217): Show AGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCC AGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCT CTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCT CGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGG CGTGCTCCCCAGCTCGTCTCCAGCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02148.hp1 HG00323.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0244 a0001c0001t0001g0245	2	450	0.0044	224	c.847 others(241): Show c.847-3446_847-3445insAGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCT CCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGC GGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCC AGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295331	A A	AGCTCTGG others(217): Show AGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCC AGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCT CTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCGTGCTCCCCAGCT CGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGG CGTGCTCCCCAGCTCGTCTCCAGCG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	450	0.0022	224	c.847 others(241): Show c.847-3446_847-3445insAGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCGTGCT CCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGC GGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCC AGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295340	C C	CTGCTCCC others(217): Show CTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGC TCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAG CGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCC CAGCTCGTCTCCAGCGGCTCTGGCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01346.hp1 HG00140.hp1 HG01346.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0254 a0001c0007t0001g0256 a0001c0007t0001g0254 a0001c0007t0001g0256	2	450	0.0044	224	c.847 others(241): Show c.847-3400_847-3399insCCCCAGCTCGTCTCCAGCGGCTCTGGCG TGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCT CCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGC GGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCT	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295372	G G	GTGCTCCC others(217): Show GTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGC TCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAG CAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCC CAGCTCGTCTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	450	0.0022	224	c.847 others(241): Show c.847-3446_847-3445insAGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCT CCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGC AGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCC AGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPF3A_chr13_114276601_114310817	114295395	G G	GGCTCTGG others(217): Show GGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCC AGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCAGCT CTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCCAGCT CGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGG CCTGCTCCCCAGCTCGTCTCCAGCA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0201 a0003c0003t0001g0201	1	450	0.0022	224	c.847 others(241): Show c.847-3437_847-3436insCTGCTCCCCAGCTCGTCTCCAGCGGCTC TGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTC GTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGC CTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
USF3_chr3_113643385_113701642	113683243	C C	CTCTAGTT others(217): Show CTCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAA ACTATTATCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCT ATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTT TAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTATTATCT AGTTTTTAATCTATAAAAACTATTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01952.hp1 HG02148.hp2 others(2): Show HG01934.hp1 HG01952.hp1 HG02148.hp2 HG02258.hp1 HG02300.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0008 a0002c0003 a0005c0008	a0002c0003t0001 a0005c0008t0010 a0005c0008t0054 a0002c0003t0001 a0005c0008t0010 a0005c0008t0054	a0002c0003t0001g0080 a0005c0008t0010g0046 a0005c0008t0010g0048 others(2): Show a0002c0003t0001g0080 a0005c0008t0010g0046 a0005c0008t0010g0048 a0005c0008t0010g0049 a0005c0008t0054g0047	5	342	0.0146	224	c.-13 others(243): Show c.-134-5847_-134-5846insTAATAGTTTTTATAGATTAAAAACTA GATAATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATAGATTAA AAACTAGATAATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATA GATTAAAAACTAGATAATAGTTTTTATAGATTAAAAACTAGATAATAGTT TTTATAGATTAAAAACTAGATAATAGTTTTTATAGATTAAAAACTAGA	USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding	1/6			chr3	TogoVar
UTF1_chr10_133225217_133236558	133227483	G G	GCGCCATC others(217): Show GCGCCATCCACTCCCCGGCTCTGTCCCCCACGCCGCCATCCACTCCCCGG CTCTGTCCCCCACGCCGCCATCCACTCCCCGGCTCTGTCCCCCACGCCGC CATCCACTCCCCGGCTCTGTCCCCCACGCCGCCATCCACTCCCCGGCTCT GTCCCCCACGCCGCCATCCACTCCCCGGCTCTGTCCCCCACGCCGCCATC CACTCCCCGGCTCTGTCCCCCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	224	c.-28 others(235): Show c.-2806_-2805insCGCCATCCACTCCCCGGCTCTGTCCCCCACGCCG CCATCCACTCCCCGGCTCTGTCCCCCACGCCGCCATCCACTCCCCGGCTC TGTCCCCCACGCCGCCATCCACTCCCCGGCTCTGTCCCCCACGCCGCCAT CCACTCCCCGGCTCTGTCCCCCACGCCGCCATCCACTCCCCGGCTCTGTC CCCCACGCCGCCATCCACTCCCCGGCTCTGTCCCCCACGC	UTF1	ENSG00000171794.4	transcript	ENST00000304477.3	protein_coding		2733		chr10	TogoVar
VCX3B_chrX_8459830_8471510	8467020	A A	AAGGAATA others(217): Show AAGGAATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGGAATAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGAGGTGGTGTGTGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0032 a0005c0010t0032	a0005c0010t0032g0004 a0005c0010t0032g0004	1	271	0.0037	224	c.63 others(233): Show c.637_*638insAGGAATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGGAATAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGAGGTGGTGTGTGGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		511		chrX	TogoVar
VIPR2_chr7_159023175_159149867	159129573	T T	TCAGGTGA others(217): Show TCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGCCTCTGGGGGGG ACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGCCTCTG GGGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGG CCTCTGGGGGGGACAGGGTCAGGTGACCAGCTTCACACTCTGTTCCCTCA AACTGGCCTCTGGCGGGGACAGGGC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18964.hp1 NA18969.hp2 others(1): Show NA18959.hp2 NA18964.hp1 NA18969.hp2 NA18975.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0205 a0001c0004t0004g0206 a0001c0004t0004g0207 others(1): Show a0001c0004t0004g0205 a0001c0004t0004g0206 a0001c0004t0004g0207 a0001c0004t0004g0291	4	336	0.0119	224	c.151 others(243): Show c.151+12872_151+12873insGCCCTGTCCCCGCCAGAGGCCAGTTT GAGGGAACAGAGTGTGAAGCTGGTCACCTGACCCTGTCCCCCCCAGAGGC CAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCCCC AGAGGCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTC CCCCCCAGAGGCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTG	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VPS16_chr20_2835745_2871732	2842829	T T	TATAGATG others(217): Show TATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03098.hp2 HG02970.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	408	0.0049	224	c.53+ others(239): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(217): Show CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	408	0.0025	224	c.53+ others(239): Show c.53+2048_53+2049insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(217): Show ATCATATATGATACATATATCATATATATCATATATGATACATATATCAT ATATATCATATATGATACATATATCATATATATGATACATGTATCATATA TGATACATATATATCATATATATGATACATATATATCATATATATGATAC ATATATATCATATATATGATACATATATATCATATATATGATACATATAT ATCTCATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp1 HG02486.hp2 others(1): Show HG00741.hp1 HG01433.hp1 HG02486.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0195 a0001c0001t0002g0196 others(1): Show a0001c0001t0002g0181 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197	4	340	0.0118	224	c.856 others(241): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATCATATATGATACATATATCATATATATGATACATGTATCATA TATGATACATATATATCATATATATGATACATATATATCATATATATGAT ACATATATATCATATATATGATACATATATATCATATATATGATACATAT ATATCTCATATATGATACATATATATCTCATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(217): Show ATCATATATGATACATATATCATATATATCATATATGATACATATATCAT ATATATCATATATGATACATATATCATATATATGATACATGTATCATATA TGATACATATATATCATATATATGATACATATATATCATATATATGATAC ATATATATCATATATATGATACATATATATCTCATATATGATACATATAT ATCTCATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	340	0.0029	224	c.856 others(241): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATCATATATGATACATATATCATATATATGATACATGTATCATA TATGATACATATATATCATATATATGATACATATATATCATATATATGAT ACATATATATCATATATATGATACATATATATCTCATATATGATACATAT ATATCTCATATATGATACATATATATCTCATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137198	A A	ATCATATA others(217): Show ATCATATATATCATATATGATACATATATCATATATATCATATATGATAC ATATATCATATATATGATACATGTATCATATATGATACATATATATCATA TATATGATACATATGTATCATATATATGATACATATGTATCATATATATG ATACATATGTATCATATATATGATACATATGTATCATATATATGATACAT ATGTATCATATATATGATACATATG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0093 a0002c0002t0002g0093	1	340	0.0029	224	c.856 others(241): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATCATATATGATACATATATCATATATATGATACATGTATCATA TATGATACATATATATCATATATATGATACATATGTATCATATATATGAT ACATATGTATCATATATATGATACATATGTATCATATATATGATACATAT GTATCATATATATGATACATATGTATCATATATATGATACATATGT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR81_chr17_1719704_1743585	1740541	G G	GAGTGAGG others(217): Show GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTG AGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAG CCGGACACTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGGGCCTGATGCAGGAGTGAGGAGCAGGACAGTGA GGGTGGGAAGGGGCCTGATGCAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0002 a0002c0052t0002	a0002c0052t0002g0051 a0002c0052t0002g0051	1	431	0.0023	224	c.28 others(235): Show c.2856_*2857insAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGC CTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGAT GCAGGGAGTGAGGAGCCGGACACTGAGGGTGGGAAGGAGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGAGTGA GGAGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGAA	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1957		chr17	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(217): Show ATATATAATATATATATATAATATATATATATATAATATATATATATAAT ATATATATATATATAATATATATATATATTATATATATATAATATATATA TTATATATATATTATATATATATAATATATATTATATATATATAATATAT ATATAATATATATATTATATATATATAATATATATATTATATATATATAA TATATATATATTATATATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	330	0.0030	224	c.38 others(235): Show c.3884_*3885insATAATATATATATAATATATATATATTATATATA TATAATATATATATTATATATATATAATATATATATTATATATATATTAT ATATATATAATATATATTATATATATATAATATATATATAATATATATAT TATATATATATAATATATATATATATTATATATATATATATATTATATAT ATATATTATATATATATATATTATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar

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