Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
UCN3_chr10_5359966_5379692	5370051	G G	GTATATGC others(177): Show GTATATGCGTGTATATGTGTGTGTATATGTGTGTGTGTATATGTGCGTGT ATGTGTGCGTGTGTATATGTGCGTGTATGTGTGTGTGTATATGTGTGTGT ATATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTGTGTATGTGTGTGT GTATGTGTGTGTATGTGTGTGTATATGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18998.hp1 NA18980.hp2 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0207 a0002c0002t0004g0208 a0002c0002t0004g0207 a0002c0002t0004g0208	2	468	0.0043	184	c.-6- others(199): Show c.-6-3661_-6-3660insATGCGTGTATATGTGTGTGTATATGTGTGT GTGTATATGTGCGTGTATGTGTGCGTGTGTATATGTGCGTGTATGTGTGT GTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTGTATGTGTGT GTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGT ATAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370051	G G	GTATATGC others(177): Show GTATATGCGTGTATATGTGTGTGTATATGTGTGTGTGTGTATATGTGCGT GTATGTGTGCGTGTGTATATGTGCGTGTATGTGTGTGTGTATATGTGTGT GTATATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTGTATGTGTGTGT GTATGTGTGTGTATGTGTGTGTATATGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0198 a0002c0002t0004g0198	1	468	0.0021	184	c.-6- others(199): Show c.-6-3661_-6-3660insATGCGTGTATATGTGTGTGTATATGTGTGT GTGTGTATATGTGCGTGTATGTGTGCGTGTGTATATGTGCGTGTATGTGT GTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTGTATGTGT GTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGT ATAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UGT1A10_chr2_233631448_233778300	233724152	G G	GCAGGGGG others(177): Show GCAGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0012 a0003c0004t0003g0012	1	302	0.0033	184	c.856 others(203): Show c.856-42882_856-42881insCAGGGGGGGCTGACCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGT	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4			chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233724142	G G	GGCTGGCC others(177): Show GGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0034 a0005c0005t0004g0034	1	350	0.0029	184	c.-49 others(195): Show c.-4985_-4984insGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		4899		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233724142	G G	GGCTGGCC others(177): Show GGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	332	0.0030	184	c.867 others(201): Show c.867+4465_867+4466insCAGGGGGGCTGACCCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCAGCTG GCCGGG	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233724152	G G	GCAGGGGG others(177): Show GCAGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0031 a0003c0004t0003g0031	1	332	0.0030	184	c.867 others(201): Show c.867+4465_867+4466insCAGGGGGGGCTGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGT	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4			chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233724142	G G	GGCTGGCC others(177): Show GGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	330	0.0030	184	c.867 others(203): Show c.867+10294_867+10295insCAGGGGGGCTGACCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCAGC TGGCCGGG	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233724152	G G	GCAGGGGG others(177): Show GCAGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0300 a0001c0001t0003g0300	1	330	0.0030	184	c.867 others(203): Show c.867+10294_867+10295insCAGGGGGGGCTGACCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGT	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4			chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233724142	G G	GGCTGGCC others(177): Show GGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0279 a0002c0002t0002g0279	1	332	0.0030	184	c.861 others(203): Show c.861+30287_861+30288insCAGGGGGGCTGACCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCAGC TGGCCGGG	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233724152	G G	GCAGGGGG others(177): Show GCAGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0263 a0001c0001t0003g0263	1	332	0.0030	184	c.861 others(203): Show c.861+30287_861+30288insCAGGGGGGGCTGACCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGT	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4			chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233724142	G G	GGCTGGCC others(177): Show GGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	320	0.0031	184	c.855 others(203): Show c.855+41360_855+41361insCAGGGGGGCTGACCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCAGC TGGCCGGG	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233724152	G G	GCAGGGGG others(177): Show GCAGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	320	0.0031	184	c.855 others(203): Show c.855+41360_855+41361insCAGGGGGGGCTGACCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGT	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4			chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233724152	G G	GCAGGGGG others(177): Show GCAGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0100 a0001c0003t0003g0100	1	290	0.0035	184	c.856 others(203): Show c.856-42882_856-42881insCAGGGGGGGCTGACCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGT	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4			chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233724152	G G	GCAGGGGG others(177): Show GCAGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	318	0.0031	184	c.856 others(203): Show c.856-42882_856-42881insCAGGGGGGGCTGACCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGT	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4			chr2	TogoVar
UNC13A_chr19_17596336_17693354	17631081	T T	TTCCTTCC others(177): Show TTCCTTCCTTCCTTCCTTCTTCAGATAAGCTGCCCATGGCAAGTGGGTTT ATTCTCTGAGTCCTCCGTCCATCCTTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCTTCAGATAAACTGCCCATGGCAAGTGGGTTTATTCTC TGAGTCCTCCGTCCATCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0071 a0001c0008t0002g0095 a0001c0008t0002g0071 a0001c0008t0002g0095	2	320	0.0063	184	c.342 others(201): Show c.3429-332_3429-331insGGGAGGGAGGGAGGGAAGGATGGACGGA GGACTCAGAGAATAAACCCACTTGCCATGGGCAGTTTATCTGAAGAAGGA AGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAAGGATGGACGGAGGACTC AGAGAATAAACCCACTTGCCATGGGCAGCTTATCTGAAGAAGGAAGGAAG GAAGGA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17631180	T T	TCCCTCCC others(177): Show TCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTC CCTCCCTCCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCC CTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTT CCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01496.hp1 HG02735.hp1 others(2): Show HG01081.hp1 HG01496.hp1 HG02735.hp1 HG03239.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0045 a0002c0006 a0001c0003 a0001c0045 a0002c0006	a0001c0003t0001 a0001c0045t0001 a0002c0006t0001 a0001c0003t0001 a0001c0045t0001 a0002c0006t0001	a0001c0003t0001g0023 a0001c0003t0001g0063 a0001c0045t0001g0280 others(2): Show a0001c0003t0001g0023 a0001c0003t0001g0063 a0001c0045t0001g0280 a0002c0006t0001g0281 a0002c0006t0001g0283	5	320	0.0156	184	c.342 others(201): Show c.3429-431_3429-430insGGGAGGGAGGGAGGGAAGGAGGGAGGGA GGGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGG GAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAAGGG AGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAG GGAGGG	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
UNC13C_chr15_53973441_54633605	54553196	C C	CTGTATTC others(177): Show CTGTATTCTATATTACAATATATATTATATATTGTATTCTATATTACAAT ATATATTATATATTGTATTCTATATTACAATATATTATATATTGTATTCT ATATTACAATATATATTATATATTGTATTCTATATTACAATATATATTAT ATATTGTATTCTATATTACAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG02559.hp1 others(6): Show HG01891.hp1 HG02486.hp1 HG02559.hp1 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03579.hp2 NA20129.hp2	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0012	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0003c0038 a0011c0024 a0012c0025	a0001c0001t0011 a0001c0001t0018 a0001c0002t0021 others(5): Show a0001c0001t0011 a0001c0001t0018 a0001c0002t0021 a0001c0004t0018 a0001c0004t0028 a0003c0038t0011 a0011c0024t0028 a0012c0025t0018	a0001c0001t0011g0077 a0001c0001t0011g0150 a0001c0001t0018g0033 others(6): Show a0001c0001t0011g0077 a0001c0001t0011g0150 a0001c0001t0018g0033 a0001c0002t0021g0080 a0001c0004t0018g0096 a0001c0004t0028g0148 a0003c0038t0011g0002 a0011c0024t0028g0017 a0012c0025t0018g0030	9	158	0.0570	184	c.587 others(203): Show c.5878-2153_5878-2152insTTATATATTGTATTCTATATTACAAT ATATATTATATATTGTATTCTATATTACAATATATATTATATATTGTATT CTATATTACAATATATATTATATATTGTATTCTATATTACAATATATATT ATATATTGTATTCTATATTACAATATATATTATATATTGTATTCTATATT ACAATATA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5D_chr8_35230475_35801540	35248070	A A	ATATAAAA others(177): Show ATATAAAATATATAATATATGAATATATGTTATATAAAATATATAATATA TGAATATATGTTATATAAAATATATAATATATGAATATATGTTATATAAA ATATATAATATATGAATATATGTTATATAAAATATATAATATATGAATAT ATGTTATATAAAATATATAATATATGAATATATGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0027 a0001c0002t0024g0027	1	64	0.0156	184	c.103 others(203): Show c.103+12187_103+12188insAAATATATAATATATGAATATATGTT ATATAAAATATATAATATATGAATATATGTTATATAAAATATATAATATA TGAATATATGTTATATAAAATATATAATATATGAATATATGTTATATAAA ATATATAATATATGAATATATGTTATATAAAATATATAATATATGAATAT ATGTTATA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
URI1_chr19_29937239_30021612	29944143	A A	ATATATTA others(177): Show ATATATTATATATATATATTATATATATATATATATATATATATTATATA TATATATAATATATATATATATTATATATATAATATATATATATTATATA TATATATTATATATATATATTATATATATATATTATATATATATTATATA TATATAATATATATATATATATTATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0042 a0003c0003t0001g0042	1	328	0.0031	184	c.117 others(201): Show c.117+1484_117+1485insTATATATATATATTATATATATATATAT ATATATATATTATATATATATATAATATATATATATATTATATATATAAT ATATATATATTATATATATATATTATATATATATATTATATATATATATT ATATATATATTATATATATATAATATATATATATATATTATATATATATA TTATAT	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
URI1_chr19_29937239_30021612	29944143	A A	ATATATTA others(177): Show ATATATTATATATATATATTATATATATATATATATATATATTATATATA TATATAATATATATATATATTATATATATAATATATATATATATTATATA TATATATTATATATATATATTATATATATATATTATATATATATTATATA TATATAATATATATATATATATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0044 a0003c0003t0001g0044	1	328	0.0031	184	c.117 others(201): Show c.117+1484_117+1485insTATATATATATATTATATATATATATAT ATATATATTATATATATATATAATATATATATATATTATATATATAATAT ATATATATATTATATATATATATTATATATATATATTATATATATATATT ATATATATATTATATATATATAATATATATATATATATTATATATATATA TTATAT	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
USH2A_chr1_215617891_216428448	216050559	T T	TCTTTCTT others(177): Show TCTTTCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0005 a0005	a0005c0029 a0005c0029	a0005c0029t0007 a0005c0029t0007	a0005c0029t0007g0043 a0005c0029t0007g0043	1	74	0.0135	184	c.605 others(203): Show c.6050-1913_6050-1912insGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAGAAAG	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	30/71			chr1	TogoVar
VCX3A_chrX_6528618_6540118	6533537	C C	CCCTCCCT others(177): Show CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCTCCTCTTACTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTC CCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACA CCTCTTCCTTCCTCCCTCCCCACACACCTCCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0003 a0007c0023t0003	a0007c0023t0003g0032 a0007c0023t0003g0032	1	74	0.0135	184	c.20 others(193): Show c.207_*208insAAGAGGAGGTGTGTGGGGAGGGAGGAAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGTAAGAGGAGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		80		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11605234	C C	CCCCACCC others(177): Show CCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCC CCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATC TTCCAAAGCGCCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTG TGAATTCCATCTTCCAAAGCGCCCCCACGCCCCCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02723.hp1 others(3): Show HG02258.hp1 HG02280.hp2 HG02723.hp1 HG02896.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0004	a0001c0001t0001g0135 a0001c0001t0005g0131 a0001c0001t0006g0133 others(3): Show a0001c0001t0001g0135 a0001c0001t0005g0131 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0137 a0001c0002t0004g0205	6	388	0.0155	184	c.83- others(199): Show c.83-3213_83-3212insCGGGGGCGTGGGGGCGCTTTGGAAGATGGA ATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGTGGGGGCGCTT TGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGC GTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGG TGGG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VPS16_chr20_2835745_2871732	2842829	T T	TATAGATG others(177): Show TATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	408	0.0025	184	c.53+ others(199): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842829	T T	TATAGATG others(177): Show TATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	408	0.0025	184	c.53+ others(199): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS53_chr17_503668_719839	598816	T T	TCCGGGAG others(177): Show TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCACCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCATGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp1 others(43): Show HG00099.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01516.hp1 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02280.hp1 HG02293.hp1 HG03491.hp2 HG03831.hp1 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18944.hp2 NA18946.hp1 NA18955.hp1 NA18957.hp2 NA18973.hp2 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18990.hp2 NA19000.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19084.hp2 NA19090.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0002 a0002c0003 a0004c0008 others(2): Show a0001c0002 a0002c0003 a0004c0008 a0005c0009 a0009c0011	a0001c0002t0017 a0001c0002t0035 a0001c0002t0050 others(35): Show a0001c0002t0017 a0001c0002t0035 a0001c0002t0050 a0001c0002t0086 a0001c0002t0100 a0001c0002t0109 a0001c0002t0125 a0002c0003t0008 a0002c0003t0009 a0002c0003t0017 a0002c0003t0018 a0002c0003t0027 a0002c0003t0036 a0002c0003t0037 a0002c0003t0085 a0002c0003t0089 a0002c0003t0090 a0002c0003t0092 a0002c0003t0093 a0002c0003t0099 a0002c0003t0131 a0002c0003t0136 a0002c0003t0139 a0002c0003t0140 a0002c0003t0145 a0002c0003t0146 a0002c0003t0148 a0002c0003t0150 a0004c0008t0035 a0004c0008t0036 a0004c0008t0103 a0004c0008t0124 a0004c0008t0133 a0004c0008t0142 a0005c0009t0130 a0005c0009t0137 a0005c0009t0147 a0009c0011t0104	a0001c0002t0017g0225 a0001c0002t0035g0219 a0001c0002t0050g0049 others(43): Show a0001c0002t0017g0225 a0001c0002t0035g0219 a0001c0002t0050g0049 a0001c0002t0086g0221 a0001c0002t0100g0223 a0001c0002t0109g0222 a0001c0002t0125g0116 a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0218 a0002c0003t0017g0179 a0002c0003t0018g0172 a0002c0003t0018g0214 a0002c0003t0027g0169 a0002c0003t0027g0181 a0002c0003t0036g0176 a0002c0003t0037g0115 a0002c0003t0037g0168 a0002c0003t0085g0184 a0002c0003t0089g0175 a0002c0003t0090g0171 a0002c0003t0092g0190 a0002c0003t0093g0173 a0002c0003t0099g0192 a0002c0003t0131g0193 a0002c0003t0136g0216 a0002c0003t0139g0167 a0002c0003t0140g0194 a0002c0003t0145g0187 a0002c0003t0146g0170 a0002c0003t0148g0174 a0002c0003t0150g0191 a0004c0008t0035g0203 a0004c0008t0036g0207 a0004c0008t0103g0227 a0004c0008t0124g0229 a0004c0008t0133g0232 a0004c0008t0142g0228 a0005c0009t0130g0178 a0005c0009t0137g0189 a0005c0009t0147g0177 a0009c0011t0104g0208	46	232	0.1983	184	c.121 others(203): Show c.1218+2978_1218+2979insTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS8_chr3_184807166_185057604	184895629	C C	CCCCCTCC others(177): Show CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19065.hp2 NA19082.hp1 NA18988.hp1 NA19065.hp2 NA19082.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0185 a0001c0012t0002g0186 a0001c0012t0002g0187 a0001c0012t0002g0185 a0001c0012t0002g0186 a0001c0012t0002g0187	3	274	0.0110	184	c.200 others(201): Show c.2004+708_2004+709insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTC CTCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895629	C C	CCCCCTCC others(177): Show CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	274	0.0037	184	c.200 others(201): Show c.2004+708_2004+709insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTC CTCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATG others(177): Show CATATATGATACATATATCATATATATCATATATGATACATATATCATAT ATATCATATATGATACATATATCATATATATGATACATGTATATCATATA TATGATACATATGTATCATATATATGATACATATGTATCATATATATGAT ACATATGTATCATATATATGATACATATGTATCAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0109 a0002c0002t0002g0109	1	340	0.0029	184	c.856 others(201): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATCATATATGATACATATATCATATATATGATACATGTATATCA TATATATGATACATATGTATCATATATATGATACATATGTATCATATATA TGATACATATGTATCATATATATGATACATATGTATCATATATATGATAC ATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATATAAT others(177): Show TATATAATATATATATTATATATATATAATATATATATATATTATATATA TAATATATATATAATATATATATAATATATATATAATATATATATAATAT ATATATTATATATATATTATATATATAATATATATATATTTTATATATAT ATTATATATATATATATATATAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	330	0.0030	184	c.37 others(195): Show c.3793_*3794insCTCTCTCTCTCTCTATATATATATATATATATAA TATATATATAAAATATATATATATTATATATATAATATATATATAATATA TATATTATATATATATTATATATATATTATATATATATTATATATATATT ATATATATAATATATATATATATTATATATATATAATATATATATTATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WDR90_chr16_644365_672830	660957	C C	CCCTCCCC others(177): Show CCCTCCCCAGGCCCCCCCCCGCCCGGCCTCAGGCCCCGCCCCCTGTTCGG CCCCTCCCCAGCCCCCCCCCCCGCCCGGCCTCAGGCCCCGCCCCCTGTTC GGCCCCTCCCCAGCCCCCCCCCCCGCCCGGCCTCAGGCCCCGCCCCCTGT TCGGCCCCTCCCCAGGCCCCCCCCCCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0074 a0006c0008t0003g0074	1	376	0.0027	184	c.339 others(199): Show c.3392-93_3392-92insCTCCCCAGGCCCCCCCCCGCCCGGCCTCAG GCCCCGCCCCCTGTTCGGCCCCTCCCCAGCCCCCCCCCCCGCCCGGCCTC AGGCCCCGCCCCCTGTTCGGCCCCTCCCCAGCCCCCCCCCCCGCCCGGCC TCAGGCCCCGCCCCCTGTTCGGCCCCTCCCCAGGCCCCCCCCCCGCCCGG CCTC	WDR90	ENSG00000161996.19	transcript	ENST00000293879.9	protein_coding	28/40		INFO_REALIGN_3_PRIME	chr16	TogoVar
WDSUB1_chr2_159230798_159291703	159247894	T T	TATATATA others(177): Show TATATATATATAAATATATATATATATATAAATATATATATATATATAAA TATATATATATATAAATATATATATATATAAATATATATATATAAATATA TATATATAAATATATATATATATAAATATATATATATAAATATATATATA TAAATATATATATATAAATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	252	0.0040	184	c.127 others(201): Show c.1273+477_1273+478insTTATATATATATATATATTTATATATAT ATATTTATATATATATATTTATATATATATATTTATATATATATATATTT ATATATATATATTTATATATATATATTTATATATATATATATTTATATAT ATATATATTTATATATATATATATATTTATATATATATATATATTTATAT ATATAT	WDSUB1	ENSG00000196151.11	transcript	ENST00000359774.9	protein_coding	10/10			chr2	TogoVar
ZHX3_chr20_41173455_41322731	41196482	T T	TTATAAAT others(177): Show TTATAAATATATATTATATATAATATATATTTATATAAATATATATTATA TATTATAAATATATATTATATATAATATATATTTATATAAATATATATTA TATATTATATAAATATTATATATAATATATATTTATATAAATATATATTA TATATTATATAAATATTATATATAATATATATTTA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	360	0.0028	184	c.286 others(203): Show c.2860+5574_2860+5575insTAAATATATATTATATATAATATTTA TATAATATATAATATATATTTATATAAATATATATTATATATAATATTTA TATAATATATAATATATATTTATATAAATATATATTATATATAATATATA TTTATAATATATAATATATATTTATATAAATATATATTATATATAATATA TATTTATA	ZHX3	ENSG00000174306.22	transcript	ENST00000683867.1	protein_coding	3/3			chr20	TogoVar
ZMYM5_chr13_19818482_19868649	19855857	C C	CAAAAAAA others(177): Show CAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	296	0.0034	184	c.-10 others(201): Show c.-10-3668_-10-3667insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTTTT	ZMYM5	ENSG00000132950.19	transcript	ENST00000337963.9	protein_coding	2/7			chr13	TogoVar
ZNF16_chr8_144925358_144955880	144946810	G G	GCTGTGTC others(177): Show GCTGTGTCCTGCTGTGGGGCTGTGTCCTGCTGTTGGGCTTGTGTCCTGCT GTGGGCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTCC TGCTGTGGGGCTGTGTCCTGCTGTTGGGCTTGTGTCCTGCTGTTGGGCTT GTGTCCTGCTGTGGGGCCTGTGTCCTGCTGTGGGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0304 a0001c0002t0001g0304	1	404	0.0025	184	c.-9- others(197): Show c.-9-596_-9-595insGCCCACAGCAGGACACAGGCCCCACAGCAGGA CACAAGCCCAACAGCAGGACACAAGCCCAACAGCAGGACACAGCCCCACA GCAGGACACAGCCCCACAGCAGGACACAGGCCCACAGCAGGACACAGGCC CACAGCAGGACACAAGCCCAACAGCAGGACACAGCCCCACAGCAGGACAC AG	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF512B_chr20_63951704_63974930	63965846	T T	TTCCTCCC others(177): Show TTCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCC TCCCCAACCTGGGACGAGCCCCCATACCTTTTCTTACCAGTGTTCCCTGA CCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCCGACCTG GGACGAGCCCCCATACCTTTTCTCACCACTGTTCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0150 a0001c0002t0005g0150	1	356	0.0028	184	c.103 others(201): Show c.1034+294_1034+295insGGAACAGTGGTGAGAAAAGGTATGGGGG CTCGTCCCAGGTCGGGGAGGAACAGTGGTGAGAAAAGGTATGGGGGCTCG TCCCAGGTCAGGGAACACTGGTAAGAAAAGGTATGGGGGCTCGTCCCAGG TTGGGGAGGAACAGTGGTGAGAAAAGGTATGGGGGCTCGTCCCAGGTCGG GGAGGA	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(177): Show CATATATACATATATACACATATACATACATATATACATATATATACATA TACATACATATATATACATATATATACATATACATACATATATATACATA TATACATATACATACATATATATACATATATATACATATACATACATATA TATACATATATACATATACATACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	460	0.0022	184	c.-13 others(195): Show c.-1395_-1394insATATATACATATATACACATATACATACATATAT ACATATATATACATATACATACATATATATACATATATATACATATACAT ACATATATATACATATATACATATACATACATATATATACATATATATAC ATATACATACATATATATACATATATACATATACATACATATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(177): Show CATATATACATATATACACATATACATACATATATACATATATATACATA TACATACATATATATACATATATATACATATACATACATATATATACATA TATATACATATACATACATATATACATATATATACATATACATACATATA TATACATATATACATATACATACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	460	0.0022	184	c.-13 others(195): Show c.-1395_-1394insATATATACATATATACACATATACATACATATAT ACATATATATACATATACATACATATATATACATATATATACATATACAT ACATATATATACATATATATACATATACATACATATATACATATATATAC ATATACATACATATATATACATATATACATATACATACATATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(177): Show CATATATACATATATACACATATACATACATATATACATATATATACATA TACATACATATATATACATATATATACATATACATACATATATATACATA TATATACATATACATACATATATATACATATATACATATACATACATATA TATACATATATACATATACATACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	460	0.0022	184	c.-13 others(195): Show c.-1395_-1394insATATATACATATATACACATATACATACATATAT ACATATATATACATATACATACATATATATACATATATATACATATACAT ACATATATATACATATATATACATATACATACATATATATACATATATAC ATATACATACATATATATACATATATACATATACATACATATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF573_chr19_37733302_37784586	37751663	C C	CATGTATA others(177): Show CATGTATACTGTGTATATATACAGTATAGACAGCATGTATACTGTGTATA TATACAGTATAGACAGCATATATACTGTGTATAGTACATAGTACCGTATA TATACTGTATATAGTACATAGTACCGTATATATACTGTATATAGTACATA GTACCGTATATACTGTATATAGTACATAGTACCGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19009.hp2 HG03098.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0044 a0001c0007t0001g0040 a0001c0001t0001g0044 a0001c0007t0001g0040	2	350	0.0057	184	c.296 others(203): Show c.296-11470_296-11469insACGGTACTATGTACTATATACAGTAT ATACGGTACTATGTACTATATACAGTATATATACGGTACTATGTACTATA TACAGTATATATACGGTACTATGTACTATACACAGTATATATGCTGTCTA TACTGTATATATACACAGTATACATGCTGTCTATACTGTATATATACACA GTATACAT	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ZNF573_chr19_37733302_37784586	37751663	C C	CATGTATA others(177): Show CATGTATACTGTGTATATATACAGTATAGACAGCATGTATACTGTGTATA TATACAGTATAGACAGCATGTATACTGTGTATAGTACATAGTACCGTATA TATACTGTATATAGTACATAGTACCGTATATATACTGTATATAGTACATA GTACCGTATATACTGTATATAGTACATAGTACCGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	350	0.0029	184	c.296 others(203): Show c.296-11470_296-11469insACGGTACTATGTACTATATACAGTAT ATACGGTACTATGTACTATATACAGTATATATACGGTACTATGTACTATA TACAGTATATATACGGTACTATGTACTATACACAGTATACATGCTGTCTA TACTGTATATATACACAGTATACATGCTGTCTATACTGTATATATACACA GTATACAT	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ZNF573_chr19_37733302_37784586	37751664	A A	ATGTATAC others(177): Show ATGTATACTGTGTATATATACAGTATAGACAGCATGTATACTGTGTATAT ATACAGTATAGACAGCATGTATACTGTGTATATATACAGTATAGACAGCA TATATACTGTGTATAGTACATAGTACCGTATATATGTGTATAGTACATAG TACCGTATATATACTGTATATAGTACATAGTACCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	350	0.0029	184	c.296 others(203): Show c.296-11471_296-11470insCGGTACTATGTACTATATACAGTATA TATACGGTACTATGTACTATACACATATATACGGTACTATGTACTATACA CAGTATATATGCTGTCTATACTGTATATATACACAGTATACATGCTGTCT ATACTGTATATATACACAGTATACATGCTGTCTATACTGTATATATACAC AGTATACA	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761901	A A	ATCCCTTC others(177): Show ATCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	394	0.0025	184	c.-31 others(195): Show c.-3153_-3152insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3011		chr19	TogoVar
ZSCAN22_chr19_58321994_58347332	58326601	C C	CACAGGCA others(177): Show CACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACAC AGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGG CACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAG CCCTCACACAGCCGCCCTCACCCTCAGACCCTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0024 a0002c0003t0024	a0002c0003t0024g0057 a0002c0003t0024g0057	1	400	0.0025	184	c.-56 others(193): Show c.-565_-564insACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACC CTCAGCCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTC AGCCTCACACAGGCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACA CAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGACCCTCAA	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		392		chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56302581	C C	CTCCCTCC others(177): Show CTCCCTCCCCCCTTCCTTTTCTTCCTCCCCCTTTTCTTCCTCCCCCTTTT CTTCCTCTCCCTCTTCCTCCCTCCCTCCTCCTCCCTTCCTTTTCTTCCTC CCCCCTTCCTTTTCTTCCTCCCCCTCTTCTTCCTCTCCCTCTTCCTCCCT CCCTCCTCCTCCCTTCCTTTTCTTCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	362	0.0028	184	c.-12 others(205): Show c.-128+10701_-128+10702insAAGGGGGGAGGAAGAAAAGGAAGG GAGGAGGAGGGAGGGAGGAAGAGGGAGAGGAAGAAGAGGGGGAGGAAGAA AAGGAAGGGGGGAGGAAGAAAAGGAAGGGAGGAGGAGGGAGGGAGGAAGA GGGAGAGGAAGAAAAGGGGGAGGAAGAAAAGGGGGAGGAAGAAAAGGAAG GGGGGAGGGA	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ABCG1_chr21_42214140_42302244	42284026	G G	GCCCAGAT others(178): Show GCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCG AAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTG GACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TTTCCCACCTGGACAGTTGTGAAGTACCCCCCACCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0301 a0001c0001t0010g0301	1	354	0.0028	185	c.735 others(200): Show c.735-486_735-485insGAAGTCCCCCCGCCCAGATGAGTGGGGACC CCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGAT GAGTGGGGACCCCCCCACCTCTTTCCCACCTGGACAGTTGTGAAGTACCC CCCACCACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACA GTTGC	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ACTN4_chr19_38642649_38736589	38735877	C C	CGGGGGTT others(178): Show CGGGGGTTCTGCGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCT GCGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGCGGGGC GGGGCGGGCGGGGCGGGCGGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGG GCGGGGCGGGCGGGGCGGGGCGGGGCGGGGCGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0232 a0001c0004t0005g0232	1	314	0.0032	185	c.64 others(196): Show c.6445_*6446insGGGGGTTCTGCGGGCGGGGCGGGGGTTCTGGGGG CGGGGCGGGGGTTCTGCGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGCGGGGGCGGGCGGGGCGG GGCGGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGGCGGGC G	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4289		chr19	TogoVar
ACTRT2_chr1_3016467_3027903	3016477	A A	AGAGAAAG others(178): Show AGAGAAAGAGGCGGGGTGGAGGAAGGGGAGAGGAAGGGAAAGAGGGAGGG AGGGGAGAGGAAGGGAATGAGGGAGGGAGAAAGGAGAGAGGAAGGGAGGA GGGAGGAGGAGGAGGAAGGGAAGAGAGGACGGAGGGAGGAGGGAGGAAGG GAAGGAGGGAGGGAGGAGAGGAGGGAGGGAGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0000 a0001c0004t0002g0000	1	366	0.0027	185	c.-52 others(196): Show c.-5210_-5209insGAGAAAGAGGCGGGGTGGAGGAAGGGGAGAGGAA GGGAAAGAGGGAGGGAGGGGAGAGGAAGGGAATGAGGGAGGGAGAAAGGA GAGAGGAAGGGAGGAGGGAGGAGGAGGAGGAAGGGAAGAGAGGACGGAGG GAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGAGGAGGGAGGGAGGAGG G	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4989		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169771080	A A	ATATAAAA others(178): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATGTTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	418	0.0024	185	c.-15 others(196): Show c.-1561_-1560insATATATAAACATAAATTTTTATATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATAT GATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTAT A	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1520		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771186	A A	TTTATATT others(178): Show TTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATA AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTATATTTATATATCATAAATATATA AAAATTTATATTTATATATCATAAATATATAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	185	c.-16 others(196): Show c.-1666_-1665insTTTTTATATATTTATGATATATAAATATAAATTT TTATATATTTATGATATATAAATATAATTTTTATATATTTATGATATATA AATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATAT TTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATAA A	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1625		chr3	TogoVar

Search by Variant

Search

Search Results