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
CFAP46_chr10_132803392_132947570	132852325	T T	TTAAGAAT others(350): Show TTAAGAATTCTCAGATCCTGATCCACAGACGTAGTATGTTCCTCCAGTTA CTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTT ACTTAAGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATT TACGTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCCAT TTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCA GTTACTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCC ATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTC CATTTACG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0070 a0070	a0070c0074 a0070c0074	a0070c0074t0002 a0070c0074t0002	a0070c0074t0002g0006 a0070c0074t0002g0006	1	246	0.0041	357	c.557 others(376): Show c.5575-1021_5575-1020insCGTAAATGGAGGAACATACCACGTCT GTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTC TGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATACCACGT CTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACG TCTGTGGATCAGGATCTGAGAATTCCTACGTAAATGGAGGAACATACCAC GTCTGTGGATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACATACCA CGTCTGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATACT ACGTCTGTGGATCAGGATCTGAGAATTCTTA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888579	G G	GCACCTGC others(350): Show GCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCCC TGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTT CACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGC CACCTTCACCCCTGCAGCCTGCACCTGCCACCTTCACCCCTGCCGCCTTC ACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCCCTG CCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTG CACCCCTGCCGCCTTCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCT GCCACCTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0013 a0013	a0013c0061 a0013c0061	a0013c0061t0001 a0013c0061t0001	a0013c0061t0001g0156 a0013c0061t0001g0156	1	246	0.0041	357	c.330 others(376): Show c.3305-2621_3305-2620insAAGGTGGCAGGTGCAGGCGGCAGGGG TGAAGGTGGCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAG GTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAG GGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAA GGTGGCAGGTGCAGGCTGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGG GGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGC GGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGG GTGAAGGCGGCAGGGGTGAAGGTGGCAGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFD_chr19_854664_868641	866872	G G	GCCAGCGC others(350): Show GCCAGCGCTCCCATCTCCTCTCCGTCCACCCACCGCAGGCCCGCACCCCT CACCAGCGCTCCCATCTCCTCCCCGTCCGCCCGCCACGGGCCTGCACCCC TCGCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCGCAGGCCCGCACCC CTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCAGGCCCGCACC CCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCGCAC CCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCGCCCGCCACGGGCCTGCA CCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCAC ACCCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	287	0.0035	357	c.36 others(368): Show c.3634_*3635insCCAGCGCTCCCATCTCCTCTCCGTCCACCCACCG CAGGCCCGCACCCCTCACCAGCGCTCCCATCTCCTCCCCGTCCGCCCGCC ACGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCTGTCCACCCAC CGCAGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCG CCGCAGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCC ACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCGCC CGCCACGGGCCTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCAC CCGCCGCGGGCCCACACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3232		chr19	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(350): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAAT ATTTTATT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	402	0.0025	357	c.80- others(372): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTT TATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CIDEA_chr18_12249361_12282595	12262175	G G	GAAAAAAA others(350): Show GAAAAAAAAAGTAAATTTTTTTTTCTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0164 a0001c0001t0005g0164	1	448	0.0022	357	c.39- others(370): Show c.39-631_39-630insTTTTCTGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGTAAATTTTT	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLDN34_chrX_9962358_9973352	9962372	G G	GCCAGGCT others(350): Show GCCAGGCTGGTCTCAAACTCCTCACCTCAGGTGATCTGATCCACCGCCTC AGCCTCCCAAAGTGCTGGCATTACAGGTGCGAGCCACCACTCATGGCCCC CTGGATCACATGACAGTTCTTTGTTCAGTTTAATTTTGTTGTTGTTGTTG TTGTTATTGTTGTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTC AAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCAC ACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGACACAGGGTTTCAC CATGTTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG02818.hp1 others(5): Show HG01884.hp1 HG02622.hp1 HG02818.hp1 HG02970.hp2 HG02976.hp1 HG03471.hp1 HG03486.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0001 a0003c0005t0002 a0001c0003t0001 a0003c0005t0002	a0001c0003t0001g0000 a0003c0005t0002g0000 a0001c0003t0001g0000 a0003c0005t0002g0000	8	330	0.0242	357	c.-49 others(368): Show c.-4986_-4985insCCAGGCTGGTCTCAAACTCCTCACCTCAGGTGAT CTGATCCACCGCCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGCGAGCC ACCACTCATGGCCCCCTGGATCACATGACAGTTCTTTGTTCAGTTTAATT TTGTTGTTGTTGTTGTTGTTATTGTTGTTGTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCT CCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGACTACAGGTGCACACCACCATGCCCAGCTAATTTTTGTATTTTTAGTA GACACAGGGTTTCACCATGTTGA	CLDN34	ENSG00000234469.4	transcript	ENST00000445307.4	protein_coding		4985		chrX	TogoVar
CNOT1_chr16_58514951_58634826	58586386	A A	AGGGGAGG others(350): Show AGGGGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGA GGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAG GGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGG GGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGG GGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGG GATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGA AGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGG AAGGGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00738.hp2 others(3): Show HG00099.hp2 HG00639.hp2 HG00738.hp2 HG01123.hp1 HG02735.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 others(3): Show a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303	6	308	0.0195	357	c.637 others(372): Show c.637+158_637+159insCTCCCCTTCCCTTCCCTTCCCTCCCCTTCC CTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTTCCCCT CTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTC CCCTTCCCCTCCCCTCCCCTCCAGTCCCCCTCCCCTCCCCCTCCCCCCTC CCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCC CTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCC TTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCC TCCCCCTCCCCTCCCCCTGCCCTCCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(350): Show GGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGG AGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGG AGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGA AGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAG GGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGAAAGGGAAGGGG AGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAAGGGGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0045 a0001c0003t0002g0045	1	308	0.0033	357	c.637 others(372): Show c.637+145_637+146insTCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTTTCCTTCCCTCC CCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCC CTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCT TCCCCTCCCCTCCCCTCCAGTCCCCCCTCCCCTCCCCCTCCCCCCTCCCG TCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTC CCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTC CCCTCCCCCTGCCCTCCCCTTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(350): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	223	0.0045	357	c.-42 others(368): Show c.-4215_-4214insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCC TGTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNTNAP5_chr2_124020287_124926219	124218106	T T	TAAAAAAT others(350): Show TAAAAAATACAGACATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAACCCCGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0058 a0001c0002t0008g0058	1	64	0.0156	357	c.83- others(372): Show c.83-3591_83-3590insCAGACATTTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCAACCCCGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A2_chr13_110302284_110518209	110355735	C C	CTGTGTGT others(350): Show CTGTGTGTGGGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAG GGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACC TGTGTGGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCT GTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTACTAGCTCACCTGTG TGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTG CACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTACTAGCTCACCTGTGT GGGGGGAGGGCAGTACCAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACT AGCTCACT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0088 a0001c0003t0003g0088	1	372	0.0027	357	c.100 others(374): Show c.100-1729_100-1728insGGGGGGAGGGCTGTACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCT GCACTAGCTCACCTGTGTGGGGGGAGGGCTGCACTAGCTCACCTGTGTGT GTGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTAC TAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTG TGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTACT AGCTCACCTGTGTGGGGGGAGGGCAGTACCAGCTCACCTGTGTGTGTGGG GGAGGGCTGCACTAGCTCACTTGTGTGTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A5_chr3_130340672_130489846	130486008	T T	TAAAAATG others(350): Show TAAAAATGCAAAATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0013 a0013	a0013c0075 a0013c0075	a0013c0075t0016 a0013c0075t0016	a0013c0075t0016g0012 a0013c0075t0016g0012	1	292	0.0034	357	c.19 others(368): Show c.1948_*1949insAAAAATGCAAAATTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding		1163		chr3	TogoVar
COL9A3_chr20_62812050_62846159	62825127	G G	GGGGGGGA others(350): Show GGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGG GGGGGAGGGGCTGGGCTCCGGCGGGGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGG GGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCT GGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0001 a0007c0033t0001	a0007c0033t0001g0098 a0007c0033t0001g0098	1	412	0.0024	357	c.630 others(372): Show c.630+108_630+109insGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCT CCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCC GGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGG CGGGGGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(350): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTC TCCCCTCTCTCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCT CTCTCCCT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	350	0.0029	357	c.510 others(376): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCTCTCCCCTCTCTCCC TCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(350): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGCTGCCACCACTACCCACCCACCACTATTACTGCTGCCACCACT ACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTA CTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0133 a0001c0001t0011g0133	1	396	0.0025	357	c.513 others(372): Show c.513-959_513-958insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCACCCACCAC TATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGCTGCCACCAC TACCCGCCCACCACTATTACTGTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CYP4F11_chr19_15907377_15939529	15933885	A A	AGGAATGA others(350): Show AGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGT GAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAG AGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGT GAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAG AGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGT GAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAG AGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGT GAGCGGGC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0043 a0001c0004t0002g0043	1	386	0.0026	357	c.198 others(372): Show c.198+325_198+326insGCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933885	A A	AGGAATGA others(350): Show AGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGT GAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAG AGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGT GAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAG AGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGT GAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAG AGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGT GAGCGGGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03927.hp1 NA18981.hp1 others(2): Show HG01175.hp2 HG03927.hp1 NA18981.hp1 NA18989.hp2 NA19089.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0023 a0001c0004t0073 a0001c0004t0002 a0001c0004t0023 a0001c0004t0073	a0001c0004t0002g0021 a0001c0004t0002g0029 a0001c0004t0023g0026 others(2): Show a0001c0004t0002g0021 a0001c0004t0002g0029 a0001c0004t0023g0026 a0001c0004t0023g0031 a0001c0004t0073g0022	5	386	0.0130	357	c.198 others(372): Show c.198+325_198+326insCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DDX51_chr12_132131594_132149319	132135929	C C	CACGGTGC others(350): Show CACGGTGCCCCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCCTCCT CCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAG TGTGCCCACGGTGCCCCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCT CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAG TGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0020 a0003c0006t0006g0020	1	334	0.0030	357	c.33 others(368): Show c.3342_*3343insTGGGCACACTCGGGGAGGTGGGAGGAGTGGGCAC CGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCG GGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAG CGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGTGGGCACCGTGGGC ACACTCGGGGAGGTGGGAGGAGTGGGCACCGTGGGCACACTCGGGGAGGT GGGAGGAGGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCAC CGTGGGCACACTCGGGGAGGTGGGAGGAGGGGCACCGTGGGCACACTCGG GGAGGTGGGAGGAGGGGCACCGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		664		chr12	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(350): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGTGGGGGTGGGGGTGTGGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGGTGGGGGGT GGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0168 a0001c0001t0006g0168	1	367	0.0027	357	c.-42 others(368): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGTGG GGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGT GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGGGTGGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(350): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTC GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	367	0.0027	357	c.-42 others(368): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGG GGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(350): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	367	0.0027	357	c.-42 others(368): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGT GGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DNAJB6_chr7_157332004_157422439	157369727	C C	CACATTAT others(350): Show CACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCT TTCATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACA GGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTAACATCATTATT AAACAGGCCTTTCATAACGTTATTATTAAACGAGCCCCTTCTTAACATCA TTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTAA CATTATTATTAAACAGGCCCCTTCTCAACATTATTATTAAACAGGCCCCT TCTTAACATTATTATTAAACGGGACCCTTCTTAAGATTATTAAACGGGCC CTTTCTTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp1 HG06807.hp1 HG02486.hp1 HG02922.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0003g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0003g0111	3	372	0.0081	357	c.346 others(374): Show c.346+2381_346+2382insAACATCATTATTAAACAGGCCTTTCATA ACGTTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTT TCATAACGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAG GCCCCTTCTCAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATT AAACGGGACCCTTCTTAAGATTATTAAACGGGCCCTTTCTTAACATTATT ATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACA TTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTCA TAACGTTATTATTAAACGGGCCCCTTCTT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOCK1_chr10_126900428_127457516	126947875	G G	GTGGTGAT others(350): Show GTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGGTGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTG GTGGTGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGT ATTACTGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0064 a0001c0006t0001g0064	1	136	0.0074	357	c.47- others(374): Show c.47-22814_47-22813insAGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGGTGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTAC TGTTGGTGGTGGTGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAG TTGGTAGTATTACTGTTGGTGATGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(350): Show TTATTGTTACCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03831.hp2 HG03834.hp2 others(2): Show HG00735.hp2 HG03831.hp2 HG03834.hp2 NA18983.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0145 others(2): Show a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0145 a0001c0001t0001g0162 a0001c0001t0008g0123	5	212	0.0236	357	c.162 others(370): Show c.162+29_162+30insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK8_chr9_209865_470255	400661	A A	ACCACCAC others(350): Show ACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCACAACATC CACCACCACCATCACCACCACCACCACCACCTCCACCACCACCACCTCCT CCACCATCACCACCAGCTCCACCATCACCACCACCTCCACCACCACCAGC TCCACCATCACCACCACCTCCACCACCACCACCACCACCTCCTCCACCAC CACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCACAACAT CCACCACCACCACCACCTCCACCACCACCACCTCCTCCACCATCACCACC AGCTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCCACCACCAC CACCTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01261.hp1 HG00323.hp1 HG01261.hp1	a0004 a0008 a0004 a0008	a0004c0019 a0008c0022 a0004c0019 a0008c0022	a0004c0019t0001 a0008c0022t0001 a0004c0019t0001 a0008c0022t0001	a0004c0019t0001g0092 a0008c0022t0001g0201 a0004c0019t0001g0092 a0008c0022t0001g0201	2	256	0.0078	357	c.323 others(376): Show c.3234+1408_3234+1409insCCTCCCCCACTACCAACAGCTCCTTC ACCATCACCACAACATCCACCACCACCATCACCACCACCACCACCACCTC CACCACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCA CCTCCACCACCACCAGCTCCACCATCACCACCACCTCCACCACCACCACC ACCACCTCCTCCACCACCACCACCACCTCCCCCACTACCAACAGCTCCTT CACCATCACCACAACATCCACCACCACCACCACCTCCACCACCACCACCT CCTCCACCATCACCACCAGCTCCACCACCACCACCTCCTCCACCACCACC ACCTCCTCCACCACCACCACCTCCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89635035	C C	CCCTTTCC others(350): Show CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0085 a0005c0009t0001g0085	1	250	0.0040	357	c.105 others(372): Show c.105-858_105-857insCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635168	T T	TCCCTTCC others(350): Show TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCTCCTT CTTCTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	250	0.0040	357	c.105 others(372): Show c.105-730_105-729insCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTT CCCCTCCTTCTTCTTTCCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPP8_chr15_65437467_65522689	65494012	C C	CCTAACAA others(350): Show CCTAACAACCCTATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGG ATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACA AGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCC GCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCT TAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCAC CGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAG CACAGGGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp2 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0014 a0001c0003t0005 a0001c0003t0014	a0001c0003t0005g0025 a0001c0003t0014g0012 a0001c0003t0005g0025 a0001c0003t0014g0012	2	336	0.0060	357	c.716 others(374): Show c.716-3714_716-3713insACCCTGTGCTCTCTGAAACATGTGCTGT GTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTA AACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTA ATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCT GCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCC CTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACC CAAGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAACATAGGGTTGTTAG	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	5/19			chr15	TogoVar
DYNLT2B_chr3_196286219_196323240	196317382	G G	GTGTGTGT others(350): Show GTGTGTGTGTGTGTGGTGTGTGTGTGTGTGTAAAGTTAGTGATCTCACAA ACCTAGCTGAGTACCCTCTGCTCTGGCCCGTGAGCCTGACATTTTTTTCA GTGTGTGTGTGTGTGTGTGTGTTGTGTGGTGTGTGTGTGGTGTGTGTGCG TGTGTGTGTGTGTAAAGTTAGTGATCTTACAAACCTGAGTACCCTCTGCT CTGGCCCGTGAGCCTGACATTTTTTTTCAGTGTGTGTGTGTGTGTGTGTG TGTGTTGTGTGTGTGTGTGTAAAGTTAGTGATCTTACAAACCTAGCTGAG TACCCTCTGCTCTGGCCCGTGAGCCTGACATTTTTTTTCAGTGTGTGTGT GTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03041.hp2 NA19240.hp1 HG02572.hp1 HG03041.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0145 a0001c0001t0001g0019 a0001c0001t0001g0145	3	330	0.0091	357	c.113 others(372): Show c.113+657_113+658insACACACACACACACACACTGAAAAAAAATG TCAGGCTCACGGGCCAGAGCAGAGGGTACTCAGCTAGGTTTGTAAGATCA CTAACTTTACACACACACACACAACACACACACACACACACACACACACT GAAAAAAAATGTCAGGCTCACGGGCCAGAGCAGAGGGTACTCAGGTTTGT AAGATCACTAACTTTACACACACACACACGCACACACACCACACACACAC CACACAACACACACACACACACACACACTGAAAAAAATGTCAGGCTCACG GGCCAGAGCAGAGGGTACTCAGCTAGGTTTGTGAGATCACTAACTTTACA CACACACACACACCACACACACACACA	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
EML1_chr14_99788413_99947060	99927957	G G	GAGGTGGT others(350): Show GAGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0279 a0001c0003t0003g0279	1	288	0.0035	357	c.190 others(376): Show c.1909+7080_1909+7081insAGGTGGTGGTGGTGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGA TGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
ERICH1_chr8_659200_736224	675945	G G	GCCCCCTC others(350): Show GCCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAG AGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCCTCG GCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGG CGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGG CGCGGCGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0278 a0001c0003t0002g0278	1	378	0.0027	357	c.305 others(374): Show c.305-1899_305-1898insCCGCCGCGCCTCTGTCCTCACGAGGGGC CGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCACGA GGGGCCGCCGCGCCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGTCCTC GCCGAGGGGGCGCCGCGTCTCTGTCCTCGCCGAGGGGGCCGCCGCGTCTC TGTCCTCACGAGGGGCCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCG CCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGGCG CCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGTCCTCACGAGGG GCCGCCGCGCCTCTGTCCTCACGAGGGGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EYA1_chr8_71192433_71367069	71200158	T T	TGAGCAAA others(350): Show TGAGCAAAACCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCGGGTC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0223 a0001c0003t0008g0223	1	232	0.0043	357	c.169 others(374): Show c.1699-739_1699-738insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCCGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGGTTTTGCTC	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	17/17			chr8	TogoVar
FAM171A1_chr10_15206643_15376289	15229810	C C	CCACCATC others(350): Show CCACCATCACCATCATCACCATCACCACTATCACCAACATCATCATCATC ACCATCACCATCATCACCATCACCATCATCACCATTGTCACCCCCCTCAC CATCATCACCATCATCACCATTGTCACCCCCATCACCATCACCAACGTCA TCATCATCACCATCATCACCATCACCATCATCACCATTGTCACCCCCCTC ACCATCATCACCATCATCACCATTGTCACCCCCATCACCATCACCAACGT CATCATCATCACCATCATCACCATCACCATCATCACCATTGTCACCCCCA TCACCATCATCACCATCACCATCATCACCATTGTCACCCCCATCACCATC ATCACCAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0129 a0001c0001t0005g0129	1	303	0.0033	357	c.755 others(374): Show c.755-8751_755-8750insATGGTGATGATGGTGATGGGGGTGACAA TGGTGATGATGGTGATGGTGATGATGGTGATGGGGGTGACAATGGTGATG ATGGTGATGGTGATGATGGTGATGATGATGACGTTGGTGATGGTGATGGG GGTGACAATGGTGATGATGGTGATGATGGTGAGGGGGGTGACAATGGTGA TGATGGTGATGGTGATGATGGTGATGATGATGACGTTGGTGATGGTGATG GGGGTGACAATGGTGATGATGGTGATGATGGTGAGGGGGGTGACAATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGATGATGATGTTGGTGA TAGTGGTGATGGTGATGATGGTGATGGTG	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7			chr10	TogoVar
FARP1_chr13_98138094_98460176	98198909	C C	CCTGCTCC others(350): Show CCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCTTCCCTGCTCCGCTCCC CCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCT CCGCTCCCCCTCCCTGCTCCGCTCCCCCCTCCCTGCTTCCCCCCCGCCCC TCCCCGCTCCCCCACTCTGCCCCTCCCCGCCCCCCTGCCCCTCCCCGCTT CCCCCTCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCTT CTGCCCCTCCCCGCTCCCGCTGCTCCCTCCCCCTCCATCCCTTCCCCCTC CCCCTCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0069 a0001c0001t0055g0069	1	218	0.0046	357	c.-23 others(376): Show c.-23-14310_-23-14309insTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCTTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCT CCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCC TGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCC CTCCCTGCTTCCCCCCCGCCCCTCCCCGCTCCCCCACTCTGCCCCTCCCC GCCCCCCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCCT CTGCCCCTCCCCGCTTCCCCTTCTGCCCCTCCCCGCTCCCGCTGCTCCCT CCCCCTCCATCCCTTCCCCCTCCCCCTCCAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FGFR4_chr5_177081915_177103144	177096905	T T	TTCCTCCT others(350): Show TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCC TCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0128 a0002c0002t0001g0128	1	372	0.0027	357	c.215 others(374): Show c.2153+175_2153+176insCTCTTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTC CTCCTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FHIT_chr3_59742277_61256452	59986774	A A	ATATATTT others(350): Show ATATATTTATATAAATATATAAATATATTTATATAAATATATAAATATAT TTATATAAATATATAAATATAAATATATTTATATAATATATTTATATAAA TATATAAATATATTTATATAAATATATAAATATATTTATATAAATATATA AATATATTTATATAAATATATAAATATAAATATATTTATATAAATATATA AATATAAATATATTTATATAAATATATAAATATAAATATATTTATATAAA TATATAAATATAAATATATTTATATAAATATATAAATATAAATATATTAT ATAAATATATTTATATTTATATAATATATTTATATAAATATATAAATATA AATATATT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	46	0.0217	357	c.279 others(376): Show c.279+24596_279+24597insAATATATTTATATTTATATATTTATA TAAATATATTATATAAATATAAATATATTTATATAATATATTTATATTTA TATATTTATATAAATATATTTATATTTATATATTTATATAAATATATTTA TATTTATATATTTATATAAATATATTTATATTTATATATTTATATAAATA TATTTATATTTATATATTTATATAAATATATTTATATATTTATATAAATA TATTTATATATTTATATAAATATATTTATATATTTATATAAATATATTAT ATAAATATATTTATATTTATATATTTATATAAATATATTTATATATTTAT ATAAATATATTTATATATTTATATAAATATA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FMN1_chr15_32760544_33199714	32777932	C C	CATTTATT others(350): Show CATTTATTATATATTATGTATAATATATAATACATTTATTATATATTATG TATAATATATAATACATTTATTATATATTATGTATAATATATAATACATT TATTATATATTATGTATAATATATAATACATTTATTATATATTATGTATA ATATATAATACATTTTTATTATGTATAATATATAATACATTTATTATGTA TAATATATAATACATTTATATTATGTATAATATATAATACATTTATTATG TATAATATATAATACATTTATTATATATTATGTATAATATATAATACATT TATTATGTATAATATATAATACATTTATTATATATTATGTATAATATATA ATACATTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0087 a0012c0017t0087	a0012c0017t0087g0158 a0012c0017t0087g0158	1	196	0.0051	357	c.413 others(376): Show c.4131-1014_4131-1013insAAATGTATTATATATTATACATAATA TATAATAAATGTATTATATATTATACATAATAAATGTATTATATATTATA CATAATATATAATAAATGTATTATATATTATACATAATAAATGTATTATA TATTATACATAATATAAATGTATTATATATTATACATAATAAATGTATTA TATATTATACATAATAAAAATGTATTATATATTATACATAATATATAATA AATGTATTATATATTATACATAATATATAATAAATGTATTATATATTATA CATAATATATAATAAATGTATTATATATTATACATAATATATAATAAATG TATTATATATTATACATAATATATAATAAAT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
FSTL5_chr4_161378897_162169000	161422779	T T	TCACATTT others(350): Show TCACATTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0001 a0004c0006t0002g0001	1	142	0.0070	357	c.184 others(378): Show c.1841+32224_1841+32225insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGAAGAAATGTG	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15			chr4	TogoVar
GAS6_chr13_113815549_113869076	113826690	T T	TGGCGCCG others(350): Show TGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCAGCGCCGGCC TCGCAGGCACCTTCTCTCCCCGGCCTCCTGGCGCCGGCCTCGCAGGCACC TTCTCTCCCCGGCCTCCTGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCG GCCTCCCGGCGCCAGCCTCGGCTTCGCGGGCACCTTCTCTCCCCGGCCTC CTGGCACTGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGC CTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCAC CTTCTCTCCCCGGCCTCCCAGCGCCGGCCTCGCAGGCACCTTCTCTCCCC GGCCTCCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0129 a0005c0012t0001g0129	1	143	0.0070	357	c.147 others(374): Show c.1477+305_1477+306insGGGAGGCCGGGGAGAGAAGGTGCCTGCG AGGCCGGCGCTGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCC GGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCCGGGAGGCCGGG GAGAGAAGGTGCCTGCGAGGCCAGTGCCAGGAGGCCGGGGAGAGAAGGTG CCCGCGAAGCCGAGGCTGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGC GAGGCCGGCGCCAGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGC CAGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCTGGGAGGCCGG GGAGAGAAGGTGCCTGCGAGGCCGGCGCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113826690	T T	TGGCGCCG others(350): Show TGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCAGCGCCGGCC TCGCAGGCACCTTCTCTCCCCGGCCTCCTGGCGCCGGCCTCGCAGGCACC TTCTCTCCCCGGCCTCCTGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCG GCCTCCCGGCGCCAGCCTCGGCTTCGCGGGCACCTTCTCTCCCCGGCCTC CTGGCACTGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGC CTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCAC CTTCTCTCCCCGGCCTCCCAGCGCCGGCCTTGCAGGCACCTTCTCTCCCC GGCCTCCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	143	0.0070	357	c.147 others(374): Show c.1477+305_1477+306insGGGAGGCCGGGGAGAGAAGGTGCCTGCA AGGCCGGCGCTGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCC GGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCCGGGAGGCCGGG GAGAGAAGGTGCCTGCGAGGCCAGTGCCAGGAGGCCGGGGAGAGAAGGTG CCCGCGAAGCCGAGGCTGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGC GAGGCCGGCGCCAGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGC CAGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCTGGGAGGCCGG GGAGAGAAGGTGCCTGCGAGGCCGGCGCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113826690	T T	TGGCGCCG others(350): Show TGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCTGGCGCCGGCC TCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCACC TTCTCTCCCCCGCCTCCTGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCC GCCTCCTGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCG CCAGCCTCGGCTTCGCGGGCACCTTCTCTCCCCGGCCTCCTGGCACTGGC CTCGCAGGCACCTTCTCTCCCCAGCCTCCCGGCGCCGGCCTCGCAGGCAC CTTCTCTCCCCGGCCTCCCAGCGCCGGCCTTGCAGGCACCTTCTCTCCCC GGCCTCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0133 a0004c0010t0001g0133	1	143	0.0070	357	c.147 others(374): Show c.1477+305_1477+306insGGGAGGCCGGGGAGAGAAGGTGCCTGCA AGGCCGGCGCTGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCC GGGAGGCTGGGGAGAGAAGGTGCCTGCGAGGCCAGTGCCAGGAGGCCGGG GAGAGAAGGTGCCCGCGAAGCCGAGGCTGGCGCCGGGAGGCCGGGGAGAG AAGGTGCCTGCGAGGCCGGCGCCAGGAGGCGGGGGAGAGAAGGTGCCTGC GAGGCCGGCGCCAGGAGGCGGGGGAGAGAAGGTGCCTGCGAGGCCGGCGC CGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCCAGGAGGCCGG GGAGAGAAGGTGCCTGCGAGGCCGGCGCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GRIP1_chr12_66342431_66684076	66617788	C C	CAAAAGAA others(350): Show CAAAAGAAATGCATATTAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp1 HG02145.hp2 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0016 a0001c0001t0001 a0002c0002t0016	a0001c0001t0001g0151 a0002c0002t0016g0152 a0001c0001t0001g0151 a0002c0002t0016g0152	2	224	0.0089	357	c.56- others(374): Show c.56-20862_56-20861insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTTAATATGCATTTCTTTT	GRIP1	ENSG00000155974.14	transcript	ENST00000359742.9	protein_coding	1/24			chr12	TogoVar
GUCY1A2_chr11_106669019_107023476	106710005	T T	TTATATAC others(350): Show TTATATACATGTATATAACATATAGTTATATATTATATACATGTATATAA CATATAGTTATGTATATTATATACATGTATATAACATATAGTTATGTATA TTATATACATGTATATAACATATAGTTATGTATATTATATACATGTATAT AACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATGTA TATTATATACATGTATATAACATATAGTTATGTATATTATATACATGTAT ATAACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATG TATATTATATACATGTATATAACATATAGTTATGTATATTATATACATGT ATATAACA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	256	0.0039	357	c.183 others(376): Show c.1837-1340_1837-1339insTGTTATATACATGTATATAATATACA TAACTATATGTTATATACATGTATATAATATACATAACTATATGTTATAT ACATGTATATAATATACATAACTATATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTAT ATACATGTATATAATATACATAACTATATGTTATATACATGTATATAATA TACATAACTATATGTTATATACATGTATATAATATACATAACTATATGTT ATATACATGTATATAATATACATAACTATATGTTATATACATGTATATAA TATATAACTATATGTTATATACATGTATATA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(350): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0012 a0001c0013t0012	a0001c0013t0012g0145 a0001c0013t0012g0145	1	270	0.0037	357	c.178 others(376): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGTGACTTGCATTTTCTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(350): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAGAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	270	0.0037	357	c.178 others(376): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGTGACTTGCATTTTCTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112353274	T T	TGAGGGAT others(350): Show TGAGGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	270	0.0037	357	c.177 others(376): Show c.177+28677_177+28678insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGAATCCCTC	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HERC6_chr4_88373852_88448097	88379742	A A	ATATATAA others(350): Show ATATATAAATATATATAATATATAAATATATAATATATAAATATATATAA TATATAAATATATAATATATAAATATATATAATATATAAATATATAATAT ATAAATATATATAATATATAAATATATAATATATAAATATATATAATATA TAAATATATATAATATATAAATATATAAATATATAACATATAAATATATA TAATATATAAATATATATATAACATATAAATATATATAATATATAAATAT ATATATAACATATAAATATATATAATATATAAATATATATATAACATATA AATATATATAATATATAAATATATATATAACATATAAATATATATAATAT ATAAATAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	174	0.0058	357	c.199 others(372): Show c.199+622_199+623insTATATAAATATATATAATATATAAATATAT AATATATAAATATATATAATATATAAATATATAATATATAAATATATATA ATATATAAATATATAATATATAAATATATATAATATATAAATATATAATA TATAAATATATATAATATATAAATATATATAATATATAAATATATAAATA TATAACATATAAATATATATAATATATAAATATATATATAACATATAAAT ATATATAATATATAAATATATATATAACATATAAATATATATAATATATA AATATATATATAACATATAAATATATATAATATATAAATATATATATAAC ATATAAATATATATAATATATAAATAT	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22			chr4	TogoVar
HIVEP3_chr1_41501365_41923922	41544864	C C	CCACCACC others(350): Show CCACCACCACTACCACCTCTACCACCACGACCACCACTACCACCTCTACC ACCACCATCATCACCACCACCACTACCACCTCTACCACCACCATCACCAC CACCACTACCACCACCACCACCACCACCACCACCACTACCACCTCTACCA CCTCTACCACCACCACCACCACTACCACCTCTACCACCACCATCATCACC ACCACCACTACCACCTCTACCACCTCTACCACCACGACCACCACTACCAC CTCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACCA TCACCACCACCACCACCATCACCACCACCACCACCATCACCACCTCTACC ACCACCAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0019 a0019	a0019c0020 a0019c0020	a0019c0020t0008 a0019c0020t0008	a0019c0020t0008g0070 a0019c0020t0008g0070	1	134	0.0075	357	c.520 others(378): Show c.5208-19955_5208-19954insATGGTGGTGGTAGAGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTCG TGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTG GTAGAGGTGGTAGTGGTGGTGGTGGTGGTAGAGGTGGTAGAGGTGGTAGT GGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGATGGTGGTGG TAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAGTG GTGGTCGTGGTGGTAGAGGTGGTAGTGGTGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399214	C C	CCACCACC others(350): Show CCACCACCACCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCGCCACCGCCACCACCACCACCATCA CCGCCACCACCATCACCATCACCGCCACCACCACCACCACCACCACCACC ACCACCAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	314	0.0032	357	c.-25 others(374): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCATCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCATCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCGCCACCGCCACCACCACCAC CATCACCGCCACCACCATCACCATCACCGCCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IBTK_chr6_82164987_82252744	82191722	A A	AGTCTGTC others(350): Show AGTCTGTCCAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ATTTTTATTTATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTAC AGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18522.hp2 HG02922.hp2 NA18522.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0005 a0003c0006t0003g0005	2	296	0.0068	357	c.343 others(372): Show c.3431+64_3431+65insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAATAAATAAAAATAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAATTGGACAGAC	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	24/28			chr6	TogoVar

Search by Variant

Search

Search Results