Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CTNNBL1_chr20_37689030_37877118	37717092	C C	CAAAACAT others(345): Show CAAAACATCTTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	266	0.0038	352	c.31- others(369): Show c.31-15774_31-15773insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAACATCTTTTC	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CUX1_chr7_101811007_102288958	102151877	T T	TTCTTTCG others(345): Show TTCTTTCGGCTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0131 a0001c0001t0010g0131	1	132	0.0076	352	c.708 others(369): Show c.708-6669_708-6668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCC CCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTCTTTCGGCTTTTA	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	102151877	T T	TTCTTTCG others(345): Show TTCTTTCGGCTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0038 a0001c0003t0004g0038	1	136	0.0074	352	c.675 others(369): Show c.675-6669_675-6668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCC CCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTCTTTCGGCTTTTA	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(345): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCACCCGGCCAGC CGC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	288	0.0035	352	c.-7- others(367): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCCACCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(345): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGC CGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	288	0.0035	352	c.-7- others(367): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCCGCCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(345): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGT CAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCACCCGGCCAGC CGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp1 HG00408.hp2 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0262 a0001c0001t0019g0209 a0001c0001t0002g0262 a0001c0001t0019g0209	2	288	0.0069	352	c.-7- others(367): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCCACCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(345): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGT CAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGC CGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01192.hp2 NA19058.hp2 HG00438.hp2 HG01192.hp2 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0008 a0001c0001t0013 a0002c0003t0003 a0001c0001t0008 a0001c0001t0013 a0002c0003t0003	a0001c0001t0008g0172 a0001c0001t0013g0123 a0002c0003t0003g0179 a0001c0001t0008g0172 a0001c0001t0013g0123 a0002c0003t0003g0179	3	288	0.0104	352	c.-7- others(367): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCCGCCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(345): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGC CGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	288	0.0035	352	c.-7- others(367): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAG CCCCCCCGCCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(345): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCCGCCCGGCCAGC CGC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	288	0.0035	352	c.-7- others(367): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCCCGCCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(345): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCGCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGC CGC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	288	0.0035	352	c.-7- others(367): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCGCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCCGCCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DCDC2C_chr2_3698575_3853008	3725401	G G	GGCAGAGA others(345): Show GGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAG GTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGA CGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0217 a0002c0003t0002g0217	1	324	0.0031	352	c.340 others(369): Show c.340-1594_340-1593insGGAGGAGGCTGCCCGGTGGATCCCGGAG GGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCGGAGGAAGACGAGCAGAGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725599	A A	AGGTGGAT others(345): Show AGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02148.hp2 HG02717.hp2 others(2): Show HG00741.hp1 HG02148.hp2 HG02717.hp2 HG04199.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0001c0002t0007 a0001c0002t0014 others(2): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0014 a0002c0003t0001 a0002c0003t0002	a0001c0002t0002g0244 a0001c0002t0007g0067 a0001c0002t0014g0068 others(2): Show a0001c0002t0002g0244 a0001c0002t0007g0067 a0001c0002t0014g0068 a0002c0003t0001g0200 a0002c0003t0002g0201	5	324	0.0154	352	c.340 others(369): Show c.340-1395_340-1394insCGGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCG GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX51_chr12_132131594_132149319	132148890	A A	ACCTCGGT others(345): Show ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCTCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0029 a0001c0020t0029	a0001c0020t0029g0070 a0001c0020t0029g0070	1	334	0.0030	352	c.-45 others(363): Show c.-4595_-4594insGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCA CTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACC GAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGG ATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGG GGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTG GTGTGAGTGAGGAGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGA GTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGG CGGCGGCACTCACCGAGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4572		chr12	TogoVar
DDX51_chr12_132131594_132149319	132148962	T T	TACCACAC others(345): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCGGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACT CAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	352	c.-46 others(363): Show c.-4667_-4666insGTGAGTGAGGCGGCCGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTAG GAGCGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGA GGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGC GGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACT CACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGA GGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4644		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149036	C C	CGCCGCCT others(345): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGT GCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0021 a0006c0011t0001g0021	1	334	0.0030	352	c.-47 others(363): Show c.-4741_-4740insCGCACTCACCGAGGGGATTAGGGGTGTGGTAGGA GCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGG CGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGG CACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCA CCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGG GGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGTGAGGCGGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4718		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149094	T T	TACCACAC others(345): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	334	0.0030	352	c.-47 others(363): Show c.-4799_-4798insGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAG GAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGC GGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACT CACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGA GGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4776		chr12	TogoVar
DDX51_chr12_132131594_132149319	132149177	G G	GCTCACAC others(345): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0014 a0005c0007t0014	a0005c0007t0014g0032 a0005c0007t0014g0032	1	334	0.0030	352	c.-48 others(363): Show c.-4882_-4881insTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGT GTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTA GGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTG AGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGG CGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCAC TCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCG AGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGA TTAGGGGTGTGGTGTGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4859		chr12	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(345): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGG GGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18947.hp2 NA18957.hp1 others(2): Show HG02040.hp1 NA18947.hp2 NA18957.hp1 NA18983.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0051 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0102 a0001c0001t0001g0111	5	367	0.0136	352	c.-42 others(363): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGG GTGAGGGAGTCGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(345): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGG GGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0010	2	367	0.0055	352	c.-42 others(363): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGG GTGAGGGAGTCGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(345): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGTGGGGGTGGGGGTGTGGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03471.hp2 HG03486.hp1 HG02486.hp1 HG03471.hp2 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0181 a0002c0002t0002g0008 a0002c0002t0002g0181	3	367	0.0082	352	c.-42 others(363): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGTGG GGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DHRSX_chrX_2214506_2505976	2298616	A A	ACGCACAC others(345): Show ACGCACACACACACGCACACACACACACGTACACACGCGCACACACACAC ACGCACACACACACGCGCACACACGCACACACACGCACATACGCACACAC GCACACGCACACACGTACACACACGCACACGCACACACGCACACACACAC GCACACGCACGCGCACACACACACACACACGCACGCACACACACGCGCAC GCACACACACGCACACACGCACGCACACACGTGCACGCACGCACACGCAC GCACACGCACACACGCACACGCACACACACACACGCACACACACGCACGC ACACGCGCACACGCACACACACACGCACACACACACACGCACGCACACGC ACG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0034 a0005c0006t0004g0034	1	50	0.0200	352	c.287 others(369): Show c.287-7014_287-7013insCGTGCGTGTGCGTGCGTGTGTGTGTGTG CGTGTGTGTGTGCGTGTGCGCGTGTGCGTGCGTGTGTGTGCGTGTGTGTG TGTGCGTGTGCGTGTGTGCGTGTGCGTGCGTGTGCGTGCGTGCACGTGTG TGCGTGCGTGTGTGCGTGTGTGTGCGTGCGCGTGTGTGTGCGTGCGTGTG TGTGTGTGTGTGCGCGTGCGTGTGCGTGTGTGTGTGCGTGTGTGCGTGTG CGTGTGTGTACGTGTGTGCGTGTGCGTGTGTGCGTATGTGCGTGTGTGTG CGTGTGTGCGCGTGTGTGTGTGCGTGTGTGTGTGTGCGCGTGTGTACGTG TGTGTGTGTGCGTGTGTGTGTGCG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DIDO1_chr20_62872743_62931505	62875284	C C	CCACCCCC others(345): Show CCACCCCCACCCCCACCCCCACCCCCACCCCACCCCCACCCCCACCCTCA CCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCGGCACCCCCACC CGCACCGGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCC CACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCA CCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACC CCCACCCGCACCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCGCACCCTCACCCCCACCCCCACCCTCACCCCCACCCCCACCCGCAC CCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0026 a0003c0003t0001g0026	1	320	0.0031	352	c.39 others(363): Show c.3948_*3949insCGGGTGCGGGTGGGGGTGGGGGTGAGGGTGGGGG TGGGGGTGAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTG GGGGTGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGT GGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGG GGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGTGGGGGTG GGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2458		chr20	TogoVar
DIP2C_chr10_269201_694668	516565	A A	ACAGGGGG others(345): Show ACAGGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGGAC GGGGTAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGGGGGGACAGGGGGT AGGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGG TGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGG GGGACAGGGGGTAGGGTGGGGGGGGGACACGGGGTAGGGTGGGGGGGGAC AGGGGGTAGGGTGGGGGGGGGACAGGGGGTAGGGTGGGGGGGGGGACAGG GGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAG GGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0064 a0001c0017t0002g0064	1	88	0.0114	352	c.86- others(369): Show c.86-30036_86-30035insACCCTACCCCGTGTCCCCCCCCACCCTA CCCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCCCACCCTACCCC CTGTCCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCGTGTC CCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCC CCACCCTACCCCCTGTCCCCCCCCACCCTACCCCGTCCCCCCCTCCCACC CTACCCCGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCCACCCTACC CCGTCCCCCCCTCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCGT CCCCCCCTCCCACCCTACCCCCTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	671698	C C	CAGACGCA others(345): Show CAGACGCACGGACGGAGGAAACGCCACAGACGCACGGACGGAGGAAACGT CACAGACGCACGGACGGAGGAAACGCCACAGACGCACGGACGGAGGAAGC AGGCCACAGACGCACGGACGGAGGAAACGCCACAGACGCACGGAAGGAGG AAACAGGCCACAGACACACGGAAGGAGGAAACAGGCCATAGACACACGGA CGGAGGAAAAGCCACAGACGCACGGAAGGAGGAAACAGGCCACAGACACA CGGAAGGAGGAAACAGGCCACAGACACACGGAAGGAGGAAACAGGCCATA GACGCACGGACGGAGGAAAAGCCACAGACACACGGAAGGAGGAAACAGGC CAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0001 a0001c0010t0002g0001	1	88	0.0114	352	c.85+ others(369): Show c.85+17795_85+17796insATGGCCTGTTTCCTCCTTCCGTGTGTCT GTGGCTTTTCCTCCGTCCGTGCGTCTATGGCCTGTTTCCTCCTTCCGTGT GTCTGTGGCCTGTTTCCTCCTTCCGTGTGTCTGTGGCCTGTTTCCTCCTT CCGTGCGTCTGTGGCTTTTCCTCCGTCCGTGTGTCTATGGCCTGTTTCCT CCTTCCGTGTGTCTGTGGCCTGTTTCCTCCTTCCGTGCGTCTGTGGCGTT TCCTCCGTCCGTGCGTCTGTGGCCTGCTTCCTCCGTCCGTGCGTCTGTGG CGTTTCCTCCGTCCGTGCGTCTGTGACGTTTCCTCCGTCCGTGCGTCTGT GGCGTTTCCTCCGTCCGTGCGTCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIRAS1_chr19_2709567_2726372	2713536	A A	ATCACCTC others(345): Show ATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACC TCCTCCACCCTTAATGCCATCTCTCACTTCCTACACCCATCACCTCCTCC ACCCTTCATCCCATCCATCACTGTCTACACCCATCACCTCCTCCACCCTT CATCCCATCCATCACTGTCTACACCCATCACCTCCTCCACCCTTCATCCC ATCCCTCACTTCCTCCACGCACCACCCCCTCCACCCTTCATCCCATCCCT CACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTC CTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACAC CCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	352	c.36 others(363): Show c.3673_*3674insCGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTG GAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAG GTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTG CGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTA GACAGTGATGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGACAGT GATGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGAGA TGGCATTAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGAT GAAGGGTGGAGGAGGTGA	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1030		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713562	C C	CCCTCACT others(345): Show CCCTCACTGTCTACACCCATCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTCCACGCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC GTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTT CACCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCC ATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0107 a0001c0001t0037g0107	1	412	0.0024	352	c.36 others(363): Show c.3647_*3648insAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTA GGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGT GAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGA TGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGAT GAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGG TGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGG GGGTGGTGCGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGA TGGGTGTAGACAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1004		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713562	C C	CCCTCACT others(345): Show CCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTCCACGCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC GTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTT CACCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCC ATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	352	c.36 others(363): Show c.3647_*3648insAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTA GGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGT GAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGA TGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGAT GAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGG TGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGG GGGTGGTGCGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGG TGGGTGTAGGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1004		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713739	C C	CCTCACTT others(345): Show CCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACCCCATCCCTCAC TTCCTACACCCATCGCCTCCTCCACCCTTCACCCCATACCTCACTTCCTA CACCCATCACCTCCTCCACCCTTCACCCCATACCTCACTTCCTACACCCA CCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCTCCTCCA CCCTTCATCCCATCCGTCACTGTCTACACCGATCACCTCCTCCACCCTTC ATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTAATGCCA TCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	412	0.0024	352	c.34 others(363): Show c.3470_*3471insAGATGGCATTAAGGGTGGAGGAGGTGGTGGGTGT AGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGATCGGTGTAGACAG TGACGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGGG ATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGA TGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGTATGGGGTGAAGG GTGGAGGAGGTGATGGGTGTAGGAAGTGAGGTATGGGGTGAAGGGTGGAG GAGGCGATGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTG ATGGGTGTAGGAAGTGAG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		827		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713817	T T	TCATCCCA others(345): Show TCATCCCATCCGTCACTGTCTACACCCATCACCTCCTCCACCCTTCATCC CATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACCCCATCCG TCACTGTCTACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTT CCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACA CCCATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACC ACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCC TCCACCTTTCACGCCATCCCTCACTTCCTCCACCCACCACCTCCTCCACC CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02818.hp2 HG02976.hp2 others(1): Show HG01109.hp2 HG02818.hp2 HG02976.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0026 a0001c0001t0030 a0001c0001t0013 a0001c0001t0026 a0001c0001t0030	a0001c0001t0013g0023 a0001c0001t0026g0100 a0001c0001t0030g0081 a0001c0001t0013g0023 a0001c0001t0026g0100 a0001c0001t0030g0081	4	412	0.0097	352	c.33 others(363): Show c.3392_*3393insGAGGGTGGAGGAGGTGGTGGGTGGAGGAAGTGAG GGATGGCGTGAAAGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGG GATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAA GGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGG AGGAGGTGGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGG TGGTGGGTGTAGACAGTGACGGATGGGGTGAAGGGTGGAGGAGGTGATGG GTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAG ACAGTGACGGATGGGATG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		749		chr19	TogoVar
DLGAP2_chr8_732628_1713476	807228	A A	AGTTCTCT others(345): Show AGTTCTCTCTCCTCTTTTTCTTCTCATTCATACGTTCTCTCTCCTCTTTT TCTTCTCATTCATACGTTCTCTCTCCTCTTTTTCTTCTCATTCATACGTT CTCTCTCCTCTTTTTCTTCTCATTCATACGTTCTCTCTCCTCTTTTTCTT CTCATTCATACGTTCTCTCTCCTCTTTTTCTTCTCATTCATACGTTCTCT CTCCTCTTTTTCTTCTCATTCATACGTTCTCTCTCCTCTTTTTCTTCTCA TTCATACGTTCTCTCTCCTCTTTTTCTTCTCATTCATACGTTCTCTCTCC TCTTTTTCTTCTCATTCATACGTTCTCTCTCCTCTTTTTCTTCTCATTCA TAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	352	c.18+ others(369): Show c.18+69754_18+69755insCGTTCTCTCTCCTCTTTTTCTTCTCATT CATACGTTCTCTCTCCTCTTTTTCTTCTCATTCATACGTTCTCTCTCCTC TTTTTCTTCTCATTCATACGTTCTCTCTCCTCTTTTTCTTCTCATTCATA CGTTCTCTCTCCTCTTTTTCTTCTCATTCATACGTTCTCTCTCCTCTTTT TCTTCTCATTCATACGTTCTCTCTCCTCTTTTTCTTCTCATTCATACGTT CTCTCTCCTCTTTTTCTTCTCATTCATACGTTCTCTCTCCTCTTTTTCTT CTCATTCATACGTTCTCTCTCCTCTTTTTCTTCTCATTCATACGTTCTCT CTCCTCTTTTTCTTCTCATTCATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	848871	G G	GTGCGTGT others(345): Show GTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCG TGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGG GTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTG TAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCC AGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTG TTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTG CGTGTTCCAGTGTAGGAACGTGCCAGGGTTTGTTCCAGTCTAGGATCTTG TGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	40	0.0250	352	c.19- others(369): Show c.19-59039_19-59038insCGTGTTCCAGTGTAGGGTCGTGCGGTGC GTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCG GTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCG TGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGG GTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTG TAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCC AGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGAACGTGCCAGGGTTT GTTCCAGTCTAGGATCTTGTGATG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1508511	T T	TGCAAACC others(345): Show TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCCTGC AAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCCACCCCTCACCA CCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCCACC CCTCACCACCCCCTGCAAACCCCCACCCCCCCCACACAAACCCCCGCCAC CCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCC TCACCACCCCCCGCAAACCCCCGCCACCCCCCCACCACCCCTCACCACCC CCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	40	0.0250	352	c.172 others(369): Show c.172+7096_172+7097insCCCTGCAAACGCCCACCACCCCCCACCC CTCACCACCCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCC CCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCCACCCCT CACCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCC CCACCCCTCACCACCCCCTGCAAACCCCCACCCCCCCCACACAAACCCCC GCCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCC ACCCCTCACCACCCCCCGCAAACCCCCGCCACCCCCCCACCACCCCTCAC CACCCCCCGCAAACCCCCGCCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMC1_chr22_38513948_38575183	38526515	T T	TGGCTCTT others(345): Show TGGCTCTTAACCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	324	0.0031	352	c.837 others(369): Show c.837-4792_837-4791insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGTGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAAAGGTTAAGAGCC	DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	12/13			chr22	TogoVar
DNM2_chr19_10713079_10836903	10758419	C C	CTCCCTCC others(345): Show CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCC CTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCC CTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	278	0.0036	352	c.162 others(369): Show c.162-1308_162-1307insTTCCCTCCCTCCTTCCCTCCCTCCTTCC TTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCT CCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCC TTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCC CTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCT CCCTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCC TTCCCTCCTTCCTTCCCTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(345): Show TTATTGTTACCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	212	0.0047	352	c.162 others(365): Show c.162+29_162+30insTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(345): Show TTATTGTTACCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	212	0.0047	352	c.162 others(365): Show c.162+29_162+30insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPEP1_chr16_89608642_89643433	89617661	C C	CACGGCGG others(345): Show CACGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAGGCGCGGC GGCTCACACCTTTAATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCA CACCTGTAATCCCAGCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTG TAATCCCAGCGCTGTGGGAGGCCGGGCGCAGTGGCTCACACCTGTAACCC CAGCACTTTGGGAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCAC TGTGGGAGGCTGGGCGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGG AGGCTGGGCGTGCTGGCTCAGGGCTGTAATCCCAGCACTTTGGGAGGTCG GGT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	250	0.0040	352	c.-10 others(371): Show c.-107+3942_-107+3943insACGGCGGCTCACACCTGTAATCCCAG CACTTTGGGAGGCCAGGCGCGGCGGCTCACACCTTTAATCCCAGCACTTT GGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAGCGCTTTGGGAGG TCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCCGGGC GCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCGGGCGCGGTG GCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGCGCGGCAGCTCAC ACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTGGCTCAGGGCTGT AATCCCAGCACTTTGGGAGGTCGGGT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617661	C C	CGCGGCGG others(345): Show CGCGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGGGCGCGGT GGCTCACACCTTTAATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCA CACCTGTAATCCCAGCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTG TAATCCCAGCGCTGTGGGAGGCCGGGCGCAGCGGCTCACACCTGTAATCC CAGCACTTTGGGAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCAC TGTGGGAGGCTGGGCACGGCAGCTCACACCTGTAATCCCAGCGCTGTGGG AGGCTGGGCGTGCTGGCTCAGGGCTGTAATCCCAGCACTTTGGGAGGTCG GGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	250	0.0040	352	c.-10 others(371): Show c.-107+3980_-107+3981insCCGGGCGCGGTGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCAGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGC ACGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTG GCTCAGGGCTGTAATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617661	C C	CGCGGCGG others(345): Show CGCGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGGGCGCGGT GGCTCACACCTTTAATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCA CACCTGTAATCCCAGCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTG TAATCCCAGCGCTGTGGGAGGCCGGGCGCGGCGGCTCACACCTGTAATCC CAGCACTTTGGGAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCAC TGTGGGAGGCTGGGCACGGCAGCTCACACCTGTAATCCCAGCGCTGTGGG AGGCTGGGCGTGCTGGCTCAGGGCTGTAATCCCAGCACTTTGGGAGGTCG GGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02258.hp2 HG02630.hp2 others(4): Show HG01069.hp2 HG02258.hp2 HG02630.hp2 HG02717.hp2 HG02922.hp2 HG02976.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0137 a0001c0001t0001g0138 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141	7	250	0.0280	352	c.-10 others(371): Show c.-107+3980_-107+3981insCCGGGCGCGGTGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGC ACGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTG GCTCAGGGCTGTAATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617661	C C	CGCGGCGG others(345): Show CGCGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGGGCGCGGT GGCTCACACCTTTAATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCA CACCTGTAATCCCAGCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTG TAATCCCAGCGCTGTGGGAGGCTGGGCGCGGTGGCTCACACCTGTAATCC CAGCACTTTGGGAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCAC TGTGGGAGGCTGGGCGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGG AGGCTGGGCGTGCTGGCTCAGGGCTGTAATCCCAGCACTTTGGGAGGTCG GGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00642.hp1 others(23): Show HG00558.hp1 HG00609.hp1 HG00642.hp1 HG02071.hp2 HG02083.hp2 HG02135.hp1 HG02155.hp2 NA18612.hp1 NA18944.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18966.hp1 NA18970.hp2 NA18983.hp1 NA18984.hp1 NA19009.hp1 NA19064.hp1 NA19067.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19091.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0002 a0001c0001 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 a0001c0001t0001 a0001c0011t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0011t0001g0017 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029	26	250	0.1040	352	c.-10 others(371): Show c.-107+3980_-107+3981insCCGGGCGCGGTGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGC GCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTG GCTCAGGGCTGTAATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(345): Show CCTGTAATCCCAGCACTTTGGGAGGCCAGGCGCGGCGGCTCACACCTTTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGCCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGTGGGAG GCCGGGCGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCGGG CGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGCGCGGC AGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTGGCTCA GGG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	250	0.0040	352	c.-10 others(371): Show c.-107+3980_-107+3981insCCAGGCGCGGCGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGTGGGAGG CCGGGCGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCGGGC GCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGCGCGGCA GCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTGGCTCAG GGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617706	A A	ACGGCGGC others(345): Show ACGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAGGCGCGGCG GCTCACACCTTTAATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCAC ACCTGTAATCCCAGCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGT AATCCCAGCGCTGTGGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCC AGCACTTTGGGAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACT GTGGGAGGCTGGGCGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGA GGCTGGGCGTGCTGGCTCAGGGCTGTAATCCCAGCACTTTGGGAGGTCGG GTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp2 others(32): Show HG00099.hp1 HG00280.hp1 HG00423.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG02148.hp1 HG02486.hp1 HG03130.hp1 HG03491.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0009 a0001c0001 a0002c0002 a0005c0009	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0005c0009t0001	a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0058 others(32): Show a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0132 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0002c0002t0001g0076 a0002c0002t0001g0220 a0002c0002t0003g0047 a0002c0002t0003g0061 a0002c0002t0003g0075 a0005c0009t0001g0085	35	250	0.1400	352	c.-10 others(371): Show c.-107+3990_-107+3991insCGGCTCACACCTGTAATCCCAGCACT TTGGGAGGCCAGGCGCGGCGGCTCACACCTTTAATCCCAGCACTTTGGGA GGTCGGGTGCGGCGGCTCACACCTGTAATCCCAGCGCTTTGGGAGGTCGG GCGCGGCGGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCCGGGCGCGG TGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCGGGCGCGGTGGCTC ACACCTGTAATCCCAGCACTGTGGGAGGCTGGGCGCGGCAGCTCACACCT GTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTGGCTCAGGGCTGTAATC CCAGCACTTTGGGAGGTCGGGTGCGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(345): Show ATATATATAGTATATATATATAGTATATATATACTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATA TATATAGTATATATATATAGTGTATATATATAGTATATATATAGTATATA TATAGTATATATAGTATATATGTATATATATATAGTATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATAGTATATATA TAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	316	0.0032	352	c.355 others(371): Show c.355-25620_355-25619insGTATATATATATAGTATATATATACT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATAGTATATATATAGTATATATAGTATATATGTATATATATATAG TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFCAB12_chr3_129396321_129433636	129417807	T T	TAGAAATA others(345): Show TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01515.hp1 HG01069.hp1 HG01071.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0162 a0001c0001t0001g0034 a0001c0001t0001g0162	3	386	0.0078	352	c.681 others(367): Show c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTCTGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCAAAAGATGCTGTATTTCT	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	3/8			chr3	TogoVar
EIF4G3_chr1_20801479_21181897	21166095	T T	TGACTATA others(345): Show TGACTATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	312	0.0032	352	c.-27 others(373): Show c.-272+10079_-272+10080insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGACTATAGTC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3187735	C C	CGCACCCC others(345): Show CGCACCCCTCCCCACGGCCTCCCCACCAGCGTGCCCCTCCCCACAGCCCC ACCCACCTGCATTCCCCTCCCCACTCCTCACCCACCTATGCACCCCTCCC CACGGCCCCCCAACCAGCGTGCCCCTCCCCACAGCCCCACCCACCTGCAT TCCCCTCCCCACTCCTCACCCACCTATGCACCCCTCCCCACGGCCTCCCC ACCAGCGTGCCCCTCCCCACAGCCCCACCCACCTGCATTCCCCTCCCCAC TCCTCACCCACCTATGCACCCCTCCCCACGGCCCCCCAACCAGCGTGCCC CTCCCCACAGCCCCACCCACCTGCATTCCCCTCCCCACTCCTCACCCACC TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG03130.hp2 others(1): Show HG02257.hp2 HG02622.hp2 HG03130.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0016 a0001c0001t0001g0160 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0005t0001g0104	4	250	0.0160	352	c.15 others(363): Show c.1598_*1599insATAGGTGGGTGAGGAGTGGGGAGGGGAATGCAGG TGGGTGGGGCTGTGGGGAGGGGCACGCTGGTTGGGGGGCCGTGGGGAGGG GTGCATAGGTGGGTGAGGAGTGGGGAGGGGAATGCAGGTGGGTGGGGCTG TGGGGAGGGGCACGCTGGTGGGGAGGCCGTGGGGAGGGGTGCATAGGTGG GTGAGGAGTGGGGAGGGGAATGCAGGTGGGTGGGGCTGTGGGGAGGGGCA CGCTGGTTGGGGGGCCGTGGGGAGGGGTGCATAGGTGGGTGAGGAGTGGG GAGGGGAATGCAGGTGGGTGGGGCTGTGGGGAGGGGCACGCTGGTGGGGA GGCCGTGGGGAGGGGTGC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding		1234		chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315169	C C	CCACCACC others(345): Show CCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCC CATCCACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCC TACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATC ACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCA TCCACAGCCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCT ACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCA CCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCAT CCA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	250	0.0040	352	c.259 others(371): Show c.259+22847_259+22848insTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTG GTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGG ATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGG TGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGT AGGGGCTGTGGATGGGGATGGTGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELMOD3_chr2_85349769_85396748	85362448	T T	TAAGATAA others(345): Show TAAGATAATTGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	386	0.0026	352	c.129 others(367): Show c.129+201_129+202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGATAATTGCCA	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(345): Show CAAAAAAATTAGCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	312	0.0032	352	c.231 others(371): Show c.2313+2394_2313+2395insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAATTAGCTGGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ERC1_chr12_986223_1500931	1122205	G G	GTCTCTAT others(345): Show GTCTCTATCTCTATATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCT ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCT ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTAT CTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTATCTCTATCTCT ATCTCTATCTCTATATCTGTGTCTCTATCTCTATCTCTATCTGTATCTCT ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0061 a0001c0001t0119g0061	1	162	0.0062	352	c.156 others(371): Show c.1569+6185_1569+6186insATCTCTATCTCTATCTCTATCTGTGT CTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCT CTATCTCTATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGT CTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCT CTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTAT CTCTATCTCTATCTCTATCTCTATATCTGTGTCTCTATCTCTATCTCTAT CTGTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCT CTATCTCTATCTATCTCTATCTCTAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar

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