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
MYO1B_chr2_191240404_191430386	191398423	A A	ATCCCCCC others(220): Show ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCCGATCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03130.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0002 a0001c0008t0001g0003 a0001c0008t0001g0098 a0001c0008t0001g0002 a0001c0008t0001g0003 a0001c0008t0001g0098	3	170	0.0177	227	c.229 others(246): Show c.2295+1926_2295+1927insTCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC C	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1952728	C C	CTCCCTCC others(220): Show CTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTC CCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCT CCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCC TCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTTTCTTT CCTTCCCTCCTTCCTTTCCTTCCCTTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp1 HG03195.hp1 others(1): Show HG02572.hp1 HG02886.hp1 HG03195.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0002 a0001c0008t0005 a0001c0008t0001 a0001c0008t0002 a0001c0008t0005	a0001c0008t0001g0036 a0001c0008t0001g0091 a0001c0008t0002g0093 others(1): Show a0001c0008t0001g0036 a0001c0008t0001g0091 a0001c0008t0002g0093 a0001c0008t0005g0101	4	104	0.0385	227	c.153 others(244): Show c.153-9395_153-9394insAGAAGGGAAGGAAAGGAAGGAGGGAAGG AAAGAAAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGA GGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGG AGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGG GAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NEGR1_chr1_71390943_72287539	71793264	A A	ATATATAT others(220): Show ATATATATATATATATACATAATATATATATACACACACACATATATATA CACATATATATTATATATACATATATAATATATTATATATACATATATAA TATATTATATATACATATATACATATATATTATATATACATATATACATA TATTATATATACATATATACATATATTATATATACATATATATACATATA TATGTATGTGTGTGTATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01993.hp1 HG02559.hp2 others(7): Show HG00741.hp1 HG01993.hp1 HG02559.hp2 HG02970.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0025 a0001c0003t0008 a0001c0003t0024	a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0006g0004 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0006g0004 a0001c0001t0011g0031 a0001c0001t0012g0012 a0001c0001t0023g0062 a0001c0001t0025g0052 a0001c0003t0008g0013 a0001c0003t0008g0016 a0001c0003t0024g0021	10	64	0.1563	227	c.410 others(246): Show c.410-16968_410-16967insCACACACACATATACACACACATACA TATATATGTATATATATGTATATATAATATATGTATATATGTATATATAA TATATGTATATATGTATATATAATATATATGTATATATGTATATATAATA TATTATATATGTATATATAATATATTATATATGTATATATAATATATATG TGTATATATATGTGTGTGTGTATATATATATTATGTATATATATATATAT A	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NTSR1_chr20_62703836_62767771	62755590	C C	CTCCATCA others(220): Show CTCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTC CCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCCCTCCCTCCATCCCT CTCTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCCCTCCCTCCA TCCATCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCAT TCCATCCCTCCCTCCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02622.hp2 HG03139.hp2 others(4): Show HG01081.hp1 HG02622.hp2 HG03139.hp2 HG03195.hp2 HG03516.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0045 others(1): Show a0001c0001t0008 a0001c0001t0015 a0001c0001t0045 a0001c0001t0050	a0001c0001t0008g0167 a0001c0001t0008g0292 a0001c0001t0015g0179 others(4): Show a0001c0001t0008g0167 a0001c0001t0008g0292 a0001c0001t0015g0179 a0001c0001t0015g0289 a0001c0001t0015g0290 a0001c0001t0045g0291 a0001c0001t0050g0128	7	316	0.0222	227	c.916 others(242): Show c.916+764_916+765insCCCTTCATCTATCCTCCCTCCCTCCCTCCC TCCATCCCTCTCTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCC CTCCCTCCATCCATCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCC ATCCCTCATTCCATCCCTCCCTCCCTCCCTCCCTCCATCCATCATCCCTC CCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCT	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NXN_chr17_794310_984776	948876	T T	TCCCCCCT others(220): Show TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGCGGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	242	0.0041	227	c.360 others(246): Show c.360+30442_360+30443insGAGAGGAGGAGGCCGCGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG G	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949639	C C	CCGGCCTC others(220): Show CCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCGCGGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	242	0.0041	227	c.360 others(246): Show c.360+29679_360+29680insCGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCC G	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OMP_chr11_77097840_77108331	77098708	G G	GCGGCTGG others(220): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	440	0.0023	227	c.-41 others(238): Show c.-4132_-4131insCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGGTGGGGGGGCTGACCCCCCCATA TCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCA GTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4131		chr11	TogoVar
OMP_chr11_77097840_77108331	77098708	G G	GCGGCTGG others(220): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	440	0.0023	227	c.-41 others(238): Show c.-4132_-4131insCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATAT CCCTCCCAGACGGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCA GTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4131		chr11	TogoVar
OMP_chr11_77097840_77108331	77098708	G G	GCGGCTGG others(220): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGC AGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18998.hp1 NA19090.hp2 NA18955.hp1 NA18998.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0000 a0001c0002t0000 a0001c0001t0000 a0001c0002t0000	a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0001t0000g0000 a0001c0002t0000g0000	3	440	0.0068	227	c.-41 others(238): Show c.-4132_-4131insCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATAT CCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4131		chr11	TogoVar
OMP_chr11_77097840_77108331	77098708	G G	GCGGCTGG others(220): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCCATATCCCTCCCAGACGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 NA19000.hp1 HG03927.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	440	0.0046	227	c.-41 others(238): Show c.-4132_-4131insCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCCATA TCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCA GTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4131		chr11	TogoVar
OMP_chr11_77097840_77108331	77098708	G G	GCGGCTGG others(220): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02135.hp2 HG02602.hp1 others(1): Show HG00741.hp2 HG02135.hp2 HG02602.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0000 a0001c0002t0000 a0001c0001t0000 a0001c0002t0000	a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0001t0000g0000 a0001c0002t0000g0000	4	440	0.0091	227	c.-41 others(238): Show c.-4132_-4131insCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCATA TCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCA GTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4131		chr11	TogoVar
OMP_chr11_77097840_77108331	77098708	G G	GCGGCTGG others(220): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGG CAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 NA18993.hp1 NA19005.hp1 HG03239.hp1 NA18993.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0000 a0001c0002t0000 a0001c0001t0000 a0001c0002t0000	a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0001t0000g0000 a0001c0002t0000g0000	3	440	0.0068	227	c.-41 others(238): Show c.-4132_-4131insCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATA TCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCA GTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4131		chr11	TogoVar
OMP_chr11_77097840_77108331	77098721	C C	CGGGGGGC others(220): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTC ACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGCACGGCTGGCCAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	1	440	0.0023	227	c.-41 others(238): Show c.-4119_-4118insGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGG GGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGG GCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCG	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4118		chr11	TogoVar
OMP_chr11_77097840_77108331	77098728	G G	GCTGACCC others(220): Show GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGG GCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCC TGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	1	440	0.0023	227	c.-41 others(238): Show c.-4112_-4111insCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGGTGGC TGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAG GCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGC	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4111		chr11	TogoVar
OMP_chr11_77097840_77108331	77098731	A A	ACCCCCCC others(220): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTG ACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTC CTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGA CGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGCGGGGGGCTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02258.hp1 HG02738.hp2 others(1): Show HG00408.hp1 HG02258.hp1 HG02738.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	4	440	0.0091	227	c.-41 others(238): Show c.-4109_-4108insCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGGCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGC CGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGC CCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGAC	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4108		chr11	TogoVar
OR2T12_chr1_248285139_248308424	248306452	C C	CCCCTGAG others(220): Show CCCCTGAGGACTGGAGCCCCCAGAGGACTGGAGCCGCCTGAGGACTGGAG CCGCCCTGAGGACAGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGACTG GAGCCGCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCGCCCTGAGG ACTGGAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAG GACTGGAGCCCCCTGAGGACTGGAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00544.hp2 others(88): Show HG00099.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01346.hp1 HG01516.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18944.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA19004.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19063.hp1 NA19067.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA21309.hp1	a0001 a0008 a0013 others(4): Show a0001 a0008 a0013 a0018 a0020 a0022 a0023	a0001c0001 a0001c0008 a0008c0009 others(5): Show a0001c0001 a0001c0008 a0008c0009 a0013c0014 a0018c0021 a0020c0022 a0022c0020 a0023c0019	a0001c0001t0001 a0001c0001t0014 a0001c0001t0017 others(10): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0017 a0001c0001t0030 a0001c0001t0036 a0001c0008t0001 a0008c0009t0001 a0008c0009t0017 a0013c0014t0001 a0018c0021t0001 a0020c0022t0001 a0022c0020t0001 a0023c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0014g0025 a0001c0001t0017g0109 a0001c0001t0030g0095 a0001c0001t0036g0104 a0001c0008t0001g0006 a0008c0009t0001g0007 a0008c0009t0017g0092 a0013c0014t0001g0037 a0013c0014t0001g0038 a0018c0021t0001g0107 a0020c0022t0001g0090 a0022c0020t0001g0094 a0023c0019t0001g0093	91	406	0.2241	227	c.-32 others(238): Show c.-3297_-3296insCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGG CGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAG GGCGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAGGGCGGCTCCAGTCC TCAGGCGGCTCCTGTCCTCAGGGCGGCTCCTGTCCTCAGGGCGGCTCCAG TCCTCAGGCGGCTCCAGTCCTCTGGGGGCTCCAGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3029		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306452	C C	CCCCTGAG others(220): Show CCCCTGAGGACTGGAGCCCCCAGAGGACTGGAGCCGCCTGAGGACTGGAG CCGCCCTGAGGACAGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGACTG GAGCCGCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCGCCCTGAGG ACTGGAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAG GACTGGAGCCCCCTGAGGACTGGAGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 NA19002.hp2 NA19077.hp2 HG02129.hp1 NA19002.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	406	0.0074	227	c.-32 others(238): Show c.-3297_-3296insCAGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGG CGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAG GGCGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCAGGGCGGCTCCAGTCC TCAGGCGGCTCCTGTCCTCAGGGCGGCTCCTGTCCTCAGGGCGGCTCCAG TCCTCAGGCGGCTCCAGTCCTCTGGGGGCTCCAGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3029		chr1	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(220): Show TTATTATATAATATAATATATATTTTATAATATATTTATATTATTATATA ATATAATATATATTATATAATATATTTTATTATATAATATAATATATATT ATATAATATATTTTATTATATAATATATATTATATTATATAATATAATAT ATATTAATATAAATATATATTATATTATATAATATATATTATATAATATA ATATATTTTATTATATAAATATATATTA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	227	0.0044	227	c.-55 others(242): Show c.-55+406_-55+407insAATATATTTATATTATTATATAATATAATA TATATTATATAATATATTTTATTATATAATATAATATATATTATATAATA TATTTTATTATATAATATATATTATATTATATAATATAATATATATTAAT ATAAATATATATTATATTATATAATATATATTATATAATATAATATATTT TATTATATAAATATATATTATATTATATAATATAATATATATTTTAT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(220): Show CCCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCCACCCACTG CCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCTG GCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGA CCCGGCCCACCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0238 a0001c0001t0007g0238	1	292	0.0034	227	c.471 others(242): Show c.471+314_471+315insCCACCCACTGCCCAGATACGGACCCCCCCC CCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGG ACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAG ATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGC CCAGATACAGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(220): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACA CCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0008 a0008	a0008c0003 a0008c0003	a0008c0003t0002 a0008c0003t0002	a0008c0003t0002g0102 a0008c0003t0002g0102	1	166	0.0060	227	c.633 others(244): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101311661	C C	CCCCTCAC others(220): Show CCCCTCACAGCTCACCCCATCATCACACCCTCACAGCCCACCCCATCATC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCATC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCATCACA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0283 a0001c0002t0006g0283	1	336	0.0030	227	c.269 others(246): Show c.2699+1714_2699+1715insTGTGATGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGATGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGATGATGGGGTGGGCTGTGAGGGTGTGATGATGGGGTGAGCTGTGAGG G	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(220): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCATCCCCTCCCCACTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCC CCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCTCCCCTCCCCCATCCC CTCCCCACTCCCCCTCCCCCTCCCCACTCCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0158 a0001c0005t0002g0158	1	336	0.0030	227	c.-37 others(238): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATG GGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGGGAGGG GGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDE2A_chr11_72571141_72679422	72670614	G G	GAGAGGAG others(220): Show GAGAGGAGTCAGGGCCTGCACCCATCTCAGATTTTTGTTAATAAAGGCTG CGCATTTCTCCCACTCTCTGCCTAGATGTGTTCTTGCCACTCCTGGATCA TTGTGCCCCAGCCTGGCCCTACTTCAGGGGACAGTGACACAGGACGGAGA AAGGACATAAGGCCAGGCTGGGTAGCCTGGAGTTGCTGGGCCCTGCGGAG AAGACCCAGGACAGATATAACCACCACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00621.hp1 others(32): Show HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01934.hp1 HG02040.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02523.hp1 HG02683.hp2 HG03831.hp2 NA18954.hp2 NA18960.hp1 NA18964.hp1 NA18981.hp2 NA19000.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19083.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0012 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0012 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0033 a0001c0001t0001g0158 a0001c0001t0001g0162 others(31): Show a0001c0001t0001g0033 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0002t0001g0172 a0001c0002t0001g0183 a0001c0002t0012g0185 a0001c0003t0001g0161 a0002c0004t0001g0011 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0031 a0002c0004t0001g0032 a0002c0004t0001g0164 a0002c0004t0001g0167 a0002c0004t0001g0175 a0002c0004t0001g0176 a0002c0004t0001g0177 a0002c0004t0001g0178 a0002c0004t0001g0179 a0002c0004t0001g0180 a0002c0004t0001g0181 a0002c0004t0001g0182 a0002c0004t0001g0248	35	292	0.1199	227	c.71+ others(242): Show c.71+3296_71+3522dupTGTGGTGGTTATATCTGTCCTGGGTCTTCT CCGCAGGGCCCAGCAACTCCAGGCTACCCAGCCTGGCCTTATGTCCTTTC TCCGTCCTGTGTCACTGTCCCCTGAAGTAGGGCCAGGCTGGGGCACAATG ATCCAGGAGTGGCAAGAACACATCTAGGCAGAGAGTGGGAGAAATGCGCA GCCTTTATTAACAAAAATCTGAGATGGGTGCAGGCCCTGACTCCTCT	PDE2A	ENSG00000186642.16	transcript	ENST00000334456.10	protein_coding	1/30			chr11	TogoVar
PDPN_chr1_13578832_13622957	13588980	A A	AGCGCTAC others(220): Show AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	446	0.0022	227	c.67+ others(242): Show c.67+4882_67+4883insGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGC	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDXK_chr21_43714129_43767299	43741383	C C	CGGGGGGC others(220): Show CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTC GCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0138 a0001c0002t0003g0138	1	358	0.0028	227	c.143 others(242): Show c.143-255_143-254insCTCGCGGGGGGCTCGCGGGGGGCTGGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEBP1_chr12_118131124_118150584	118133224	T T	TTCATTTC others(220): Show TTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATTTCATTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	426	0.0024	227	c.-29 others(238): Show c.-2986_-2985insTCATTTCATTTCATTTCATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTC	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2899		chr12	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(220): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGGAGGCGGAGGGGAAGGAGAA GGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAA GGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGGGAG GGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGG AAGGGAAAGGGAAAGGGGAAGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	396	0.0025	227	c.-48 others(238): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGGAGGC GGAGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAG GGGAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGA AGGGAAGGGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAG GGGAAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PGAM5_chr12_132705842_132727734	132718358	T T	TGGTGTCC others(220): Show TGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGGGGT CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCT GGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGT GGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGGG GTCCTGGGTGGGGTGCGTGCTGGGTGGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0051 a0001c0001t0009g0051	1	394	0.0025	227	c.719 others(242): Show c.719+254_719+255insGGTCCTGGGTGGGGGTGTCCTGGGTGGGGG GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCAT GCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTG GGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGG GGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(220): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	237	0.0042	227	c.537 others(244): Show c.537+2599_537+2600insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCC TCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(220): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02723.hp1 others(6): Show HG02451.hp1 HG02647.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp2 HG03209.hp1 HG03540.hp1 HG06807.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0223 a0002c0003t0001g0032 a0002c0003t0001g0033	9	237	0.0380	227	c.537 others(244): Show c.537+2599_537+2600insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PIM1_chr6_37165152_37180428	37179403	A A	ATATATAT others(220): Show ATATATATATTATATATTATACATAAAATATATATAATATATATTATATA TAATATATATTATATATAATATATAATATATAATATATAATATATATAAT ATATAATATATTATATATAATATATATTATATATTATATATTATATATAT ATTATATATTATATATAATATATAATATATATTATATATAATATATAATA TATATTATATATAATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	414	0.0024	227	c.53 others(238): Show c.5312_*5313insTATATATATTATATATTATACATAAAATATATAT AATATATATTATATATAATATATATTATATATAATATATAATATATAATA TATAATATATATAATATATAATATATTATATATAATATATATTATATATT ATATATTATATATATATTATATATTATATATAATATATAATATATATTAT ATATAATATATAATATATATTATATATAATATATAATATATAT	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3976		chr6	TogoVar
PIM1_chr6_37165152_37180428	37179406	T T	TATATATT others(220): Show TATATATTATATATTATACATAAAATATATATAATATATATTATATATAA TATATATTATATATAATATATAATATATAATATATATAATATATAATATA TTATATATAATATATATTATATATTATATATTATATATATATTATATATA ATATATAATATATAATATATATTATATATAATATATAATATATATTATAT ATAATATATAATATATATTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02071.hp1 HG02135.hp1 others(7): Show HG02040.hp2 HG02071.hp1 HG02135.hp1 NA18939.hp2 NA18957.hp2 NA18968.hp1 NA18994.hp2 NA19007.hp2 NA19058.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0003 a0001c0001t0003g0018 a0001c0001t0018g0003 a0001c0001t0003g0003 a0001c0001t0003g0018 a0001c0001t0018g0003	10	414	0.0242	227	c.53 others(238): Show c.5315_*5316insATATATTATATATTATACATAAAATATATATAAT ATATATTATATATAATATATATTATATATAATATATAATATATAATATAT ATAATATATAATATATTATATATAATATATATTATATATTATATATTATA TATATATTATATATAATATATAATATATAATATATATTATATATAATATA TAATATATATTATATATAATATATAATATATATTATATATATA	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3979		chr6	TogoVar
PIM1_chr6_37165152_37180428	37179406	T T	TATATATT others(220): Show TATATATTATATATTATACATAAAATATATATAATATATATTATATATAA TATATATTATATATAATATATAATATATAATATATATAATATATAATATA TTATATATAATATATATTATATATTATATATTATATATATATTATATATT ATATATAATATATAATATATATTATATATAATATATAATATATATTATAT ATAATATATAATATATATTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01346.hp1 HG01981.hp2 others(3): Show HG01257.hp2 HG01346.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0003g0005 a0001c0001t0002g0002 a0001c0001t0003g0005	6	414	0.0145	227	c.53 others(238): Show c.5315_*5316insATATATTATATATTATACATAAAATATATATAAT ATATATTATATATAATATATATTATATATAATATATAATATATAATATAT ATAATATATAATATATTATATATAATATATATTATATATTATATATTATA TATATATTATATATTATATATAATATATAATATATATTATATATAATATA TAATATATATTATATATAATATATAATATATATTATATATATA	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3979		chr6	TogoVar
PIM1_chr6_37165152_37180428	37179406	T T	TATATATT others(220): Show TATATATTATATATTATACATAAAATATATATAATATATATTATATATAA TATATATTATATATAATATATAATATATAATATATATAATATATAATATA TTATATATAATATATATTATATATTATATATTATATATATATTATATATT ATATATAATATATATTATATATTATATATAATATATAATATATATTATAT ATAATATATAATATATATTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG03834.hp1 HG00639.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	414	0.0048	227	c.53 others(238): Show c.5315_*5316insATATATTATATATTATACATAAAATATATATAAT ATATATTATATATAATATATATTATATATAATATATAATATATAATATAT ATAATATATAATATATTATATATAATATATATTATATATTATATATTATA TATATATTATATATTATATATAATATATATTATATATTATATATAATATA TAATATATATTATATATAATATATAATATATATTATATATATA	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3979		chr6	TogoVar
PIM1_chr6_37165152_37180428	37179406	T T	TATATATT others(220): Show TATATATTATATATTATACATAAAATATATATAATATATATTATATATAT TATATATAATATATAATATATAATATATAATATATATAATATATAATATA TTATATATAATATATATTATATATTATATATTATATATATATTATATATT ATATATAATATATAATATATATTATATATAATATATAATATATATTATAT ATAATATATAATATATATTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18971.hp2 NA18975.hp2 NA18952.hp2 NA18971.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0030 a0001c0001t0003g0012 a0001c0001t0003g0030	3	414	0.0073	227	c.53 others(238): Show c.5315_*5316insATATATTATATATTATACATAAAATATATATAAT ATATATTATATATATTATATATAATATATAATATATAATATATAATATAT ATAATATATAATATATTATATATAATATATATTATATATTATATATTATA TATATATTATATATTATATATAATATATAATATATATTATATATAATATA TAATATATATTATATATAATATATAATATATATTATATATATA	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3979		chr6	TogoVar
PLEC_chr8_143910153_143944597	143928395	A A	AGCGGCGG others(220): Show AGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTG GACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTG GTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAA GAGGCGGCGGCCCTATCATGTGCTGGTTCTGTGAGGAGTAGACAGCGGGT GGACCTGTGGTTTGCAACACAGGAAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04228.hp1 HG04204.hp1 HG04228.hp1	a0002 a0097 a0002 a0097	a0002c0002 a0097c0057 a0002c0002 a0097c0057	a0002c0002t0002 a0097c0057t0002 a0002c0002t0002 a0097c0057t0002	a0002c0002t0002g0058 a0097c0057t0002g0057 a0002c0002t0002g0058 a0097c0057t0002g0057	2	358	0.0056	227	c.326 others(244): Show c.3261-404_3261-403insCTCTTCCTGTGTTGCAAACCACAGGTCC ACCCGCTGTCTACTCCTCACAGAACCAGCACATGATAGGGCCGCCGCCTC TTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAAC CAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTC CACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGC	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(220): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ATGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAA CACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	358	0.0028	227	c.326 others(244): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAT GATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928395	A A	AGCGGCGG others(220): Show AGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTG GACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTG GTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAA GAGGCGGCGGCCCTATCATGTGCTGGTTCTGTGAGGAGTAGACAGCGGGT GGACCTGTGGTTTGCAACACAGGAAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0036	1	302	0.0033	227	c.321 others(244): Show c.3219-404_3219-403insCTCTTCCTGTGTTGCAAACCACAGGTCC ACCCGCTGTCTACTCCTCACAGAACCAGCACATGATAGGGCCGCCGCCTC TTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAAC CAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTC CACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGC	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(220): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ATGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAA CACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	302	0.0033	227	c.321 others(244): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAT GATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PRDM15_chr21_41793225_41884344	41806689	C C	CCACCACC others(220): Show CCACCACCACCATCACTACCACCACCACCATCACCACCACCATCACCACC ACCACCATCACCATCACCACCACCATCACCACCACCATCACCACCATCAC CACCACCACCATCACCACCACCACCACCATCACCACCACCACCATCACCA CCACCCATCACCATCACCACCAGCACCACCCATCACTACCACCACCATCA CCACCATCACCATCACCACCACCATCAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0398 a0001c0002t0015g0398	1	406	0.0025	227	c.265 others(246): Show c.2653-2076_2653-2075insATGATGGTGGTGGTGATGGTGATGGT GGTGATGGTGGTGGTAGTGATGGGTGGTGCTGGTGGTGATGGTGATGGGT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTG GTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGT G	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3176152	T T	TATCCATC others(220): Show TATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATTTACCCA TCTATCCCCTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATT CATCCACCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCATTGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCC ATGCACTCATTCATCTATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03471.hp2 HG02809.hp2 HG03471.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0024 a0001c0001 a0007c0024	a0001c0001t0012 a0007c0024t0007 a0001c0001t0012 a0007c0024t0007	a0001c0001t0012g0129 a0007c0024t0007g0173 a0001c0001t0012g0129 a0007c0024t0007g0173	2	210	0.0095	227	c.38- others(242): Show c.38-9835_38-9834insCATCCATCCACCCATTGATTCACCTACCCA TCCATTCATCCATTCCTTCATTAACCCATCCATGCACTCATTCATCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TTTACCCATCTATCCCCTCATCTATCCACCAAGCCATTCATCCACCTATC TATGCATTCATCCACCATCTGTCCATCCATCCATCCATCCATCCATC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3176152	T T	TATCCATC others(220): Show TATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATTTACCCA TCTATCCTCTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATT CATCCACCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCATTGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCC ATGCACTCATTCATCTATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0128 a0002c0003t0004g0128	1	210	0.0048	227	c.38- others(242): Show c.38-9917_38-9916insTCTCATCTATCCACCAAGCCATTCATCCAC CTATCTATGCATTCATCCACCATCTGTCCATCCATCCATCCATCCATCCA TCCATCCATCCACCCATTGATTCACCTACCCATCCATTCATCCATTCCTT CATTAACCCATCCATGCACTCATTCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCCATTTACCCATCTATCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3176152	T T	TATCCATC others(220): Show TATCCATCCATCCATCCATCCATCTATCCATCCATCCATTTACCCATCTA TCCCCTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATTCATC CACCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCATTGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCC ATGCACTCATTCATCTATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02273.hp1 HG02280.hp2 others(7): Show HG01081.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02622.hp1 HG02723.hp2 HG02738.hp1 NA18906.hp2 NA18950.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0026 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 a0001c0002t0002 a0001c0002t0017 a0001c0004t0010 a0001c0008t0002 a0001c0009t0067 a0001c0026t0001 a0002c0003t0009	a0001c0001t0001g0125 a0001c0001t0003g0168 a0001c0001t0022g0040 others(7): Show a0001c0001t0001g0125 a0001c0001t0003g0168 a0001c0001t0022g0040 a0001c0002t0002g0180 a0001c0002t0017g0202 a0001c0004t0010g0034 a0001c0008t0002g0059 a0001c0009t0067g0145 a0001c0026t0001g0160 a0002c0003t0009g0078	10	210	0.0476	227	c.38- others(242): Show c.38-9950_38-9949insTATCCATCCATCCATTTACCCATCTATCCC CTCATCTATCCACCAAGCCATTCATCCACCTATCTATGCATTCATCCACC ATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCAT TGATTCACCTACCCATCCATTCATCCATTCCTTCATTAACCCATCCATGC ACTCATTCATCTATCCATCCATCCATCCATCCATCCATCCATCCATC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPN4_chr2_119754922_119989899	119844099	A A	AGGGCTGA others(220): Show AGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	252	0.0040	227	c.139 others(246): Show c.139-18423_139-18422insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCC C	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844105	G G	GACCCCCC others(220): Show GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAG ACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGGCTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	252	0.0040	227	c.139 others(246): Show c.139-18380_139-18379insCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTC ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGCTT ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA C	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844105	G G	GACCCCCC others(220): Show GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0029 a0007c0005t0001g0029	1	252	0.0040	227	c.139 others(246): Show c.139-18423_139-18422insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTTACCCCCC C	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119844106	A A	ACCCCCCC others(220): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGCGGCTGGCCGGGCGGAGGGCTCATCCCCCCACCTCCCTCCCGGAC GTGGCGGCTGGCCAGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0024 a0002c0003t0015g0024	1	252	0.0040	227	c.139 others(246): Show c.139-18385_139-18384insGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAG GGCTCATCCCCCCACCTCCCTCCCGGACGTGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG G	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
RABEP1_chr17_5277284_5391340	5356687	C C	CTCACCCA others(220): Show CTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAGCCTTG ACCTCCCGGGCTCAAGCGGTCCTTCTGCCTCATCCTCCTGAGTAGCTGAG ACTACAGGCATCCGCCATCGTGCCCAGCTAATTTTTTGTAGAGACGGTGT TTCAACATGTTGCCCCGGCTGGAACACATGTGTTTCTATTTGCACTTTTT TTTTTAAATTTGAGACAGGGTCTCACTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp2 HG02723.hp1 others(4): Show HG00642.hp2 HG01123.hp2 HG02723.hp1 HG02738.hp2 HG02976.hp2 HG03669.hp1 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0034 a0002c0008t0001 a0001c0001t0001 a0001c0001t0034 a0002c0008t0001	a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 others(4): Show a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0305 a0001c0001t0034g0301 a0002c0008t0001g0295	7	352	0.0199	227	c.109 others(246): Show c.1095+2221_1095+2447dupTGCAATCTTGGCTCACTGCAGCCTTG ACCTCCCGGGCTCAAGCGGTCCTTCTGCCTCATCCTCCTGAGTAGCTGAG ACTACAGGCATCCGCCATCGTGCCCAGCTAATTTTTTGTAGAGACGGTGT TTCAACATGTTGCCCCGGCTGGAACACATGTGTTTCTATTTGCACTTTTT TTTTTAAATTTGAGACAGGGTCTCACTTTCACCCAGGCTGGAGTGCAGTG G	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114099624	C C	CCCCCCGT others(220): Show CCCCCCGTAGCCCCCACCCCACAGCCCCCCACAGCCCCCCACACAGCCCC CCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCACAG CCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCC ACAGCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCCCC CCACAGCCCCCCCACAGCCCCCCCACAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	67	0.0149	227	c.56- others(244): Show c.56-25788_56-25787insCTGTGGGGGGGCTGTGGGGGGGCTGTGG GGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGT GGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGG CTGTGGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGG GGGGCTGTGTGGGGGGCTGTGGGGGGCTGTGGGGTGGGGGCTACGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(220): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCCGTCCCC ATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGT CCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCC ATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGT CCCCCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	452	0.0022	227	c.757 others(242): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCA TCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCC CCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCA TCTCCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar

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