Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(203): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATATTATATATATTTATATATATATATATTATATATAT ATTTATATATATATATTATATATATATTTATATATATATATATTATATAT ATATTTATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	216	0.0046	210	c.-2- others(227): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATAAATATATATATAATATATAT ATATATAAATATATATAATATATATATATATATAAATATATATATAATAT ATATATATAAATATATATATAATATATATATATAAAAATATATATATTAT ATATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(203): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATTATATATATTTATATATATATATATATTATATATAT TTATATATATATATATTATATATATATTTATATATATATATATTATATAT ATATTTATATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	216	0.0046	210	c.-2- others(227): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATAATATATAT ATATATATAAATATATATAATATATATATATATAAATATATATATAATAT ATATATATAAATATATATATAATATATATATATAAAAATATATATATTAT ATATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BDH1_chr3_197504783_197560968	197517475	T T	TTTCCTGC others(203): Show TTTCCTGCTCTATGGTCTCAATCCCCCTTCAGGCCGACCCCCCCAATCAG TCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCCCCCATC AGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCAACCCCCTCA TCAGTCATTTCCTGCTCTATGGTCTCAATCCCCCTTCAGGCCGACCCCCC CAATCAGTCAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19030.hp2 HG02486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0230 a0001c0001t0132 a0001c0001t0230	a0001c0001t0132g0182 a0001c0001t0230g0071 a0001c0001t0132g0182 a0001c0001t0230g0071	2	319	0.0063	210	c.410 others(227): Show c.410-3060_410-3059insGTGACTGATTGGGGGGGTCGGCCTGAAG GGGGATTGAGACCATAGAGCAGGAAATGACTGATGAGGGGGTTGGCCTGA GGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCT GAAGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATTGGGGGGGTCGG CCTGAAGGGGGATTGAGACCATAGAGCAGGAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197517781	T T	TCAGTCAC others(203): Show TCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCCCC CATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCAACCCC CCCGATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTGA ACCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGG CCGACCCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00733.hp2 others(10): Show HG00099.hp2 HG00639.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG03130.hp2 HG03704.hp2 HG04199.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0013 a0001c0001t0078 others(8): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0078 a0001c0001t0117 a0001c0001t0120 a0001c0001t0139 a0001c0002t0060 a0001c0002t0161 a0001c0002t0218 a0001c0003t0010 a0001c0003t0042	a0001c0001t0003g0023 a0001c0001t0013g0103 a0001c0001t0013g0169 others(9): Show a0001c0001t0003g0023 a0001c0001t0013g0103 a0001c0001t0013g0169 a0001c0001t0078g0027 a0001c0001t0117g0029 a0001c0001t0120g0260 a0001c0001t0139g0170 a0001c0002t0060g0037 a0001c0002t0161g0102 a0001c0002t0218g0098 a0001c0003t0010g0001 a0001c0003t0042g0020	13	319	0.0408	210	c.410 others(227): Show c.410-3366_410-3365insGGGGGGGTCGGCCTGAGGGGGAGATGGA GACCATAGAGCAGGAAGTGACTGATTGGGGGGTTCAGCCTGAGGGGGAGA TGGAGACCATAGAGCAGGAAGTGACTGATCGGGGGGGTTGGCCTGAGGGG GGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCTGAAG GGGGATGGAGACCATAGAGCAGGAAGTGACTG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197517781	T T	TCAGTCAC others(203): Show TCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCCCC CATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCAACCCC CCCGATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTGA ACCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCTGCCCCTCAGG CCGACCCCCCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01891.hp1 HG02109.hp2 others(2): Show HG01361.hp2 HG01891.hp1 HG02109.hp2 HG02257.hp2 HG02976.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0008 a0005c0007 a0001c0001 a0001c0008 a0005c0007	a0001c0001t0053 a0001c0001t0059 a0001c0001t0062 others(2): Show a0001c0001t0053 a0001c0001t0059 a0001c0001t0062 a0001c0008t0076 a0005c0007t0061	a0001c0001t0053g0068 a0001c0001t0059g0033 a0001c0001t0062g0070 others(2): Show a0001c0001t0053g0068 a0001c0001t0059g0033 a0001c0001t0062g0070 a0001c0008t0076g0303 a0005c0007t0061g0052	5	319	0.0157	210	c.410 others(227): Show c.410-3366_410-3365insGGGGGGGTCGGCCTGAGGGGCAGATGGA GACCATAGAGCAGGAAGTGACTGATTGGGGGGTTCAGCCTGAGGGGGAGA TGGAGACCATAGAGCAGGAAGTGACTGATCGGGGGGGTTGGCCTGAGGGG GGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCTGAAG GGGGATGGAGACCATAGAGCAGGAAGTGACTG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(203): Show GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGG AGGGGAAGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAG GGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAAGGCAGGGC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	276	0.0036	210	c.490 others(229): Show c.490-21336_490-21335insGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGG AAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGAAGGGGAGGGGAGGGGGA GGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAAGGCAGGGCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236266	G G	GTATATAT others(203): Show GTATATATACCCATGGGTATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATATATATATACCCATGGGTATATATATATATATATATATAT ATATACCCATGGGTATATATATATATATATATATATACCCATGGGTATAT ATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	2	386	0.0052	210	c.-81 others(229): Show c.-81-13414_-81-13413insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATATATA CCCATGGGTATATATATATATATATATATATATATACCCATGGGTATATA TATATATATATATATATACCCATGGGTATATATATATATATATATATATA CCCATGGGTATATATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOP1_chr8_144257045_144296438	144280973	A A	AATACCAG others(203): Show AATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTT CTCTCACTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTAATACCAGGT CTTAGGCCTTCTCTCACTTTAATACCAGGTCTTAGGCCTTCTCTCACTTT AATACCAGGTCTTCGGCCTTTTCTCACTTTAATACCAGGTCTTCGGCCTT CTCTCACTTTC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	398	0.0025	210	c.310 others(227): Show c.310-4670_310-4669insGAAAGTGAGAGAAGGCCGAAGACCTGGT ATTAAAGTGAGAAAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGGCCT AAGACCTGGTATTAAAGTGAGAGAAGGCCTAAGACCTGGTATTAAAGTGA GAGAAGGCCGAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGGT ATGAAAGTGAGAGAAGGCCGAAGACCTGGTAT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281303	C C	CATACCAG others(203): Show CATACCAGGTCTTCGGCCTTTTCTCACTTTCATACCAGGTCTTCGGCCTT CTCTCACTTTCATACCAGGTCTTAGGCCTTCTCTCACTTTAATACCAGGT CTTCGGCCTTCTCTCAGTTTAATACCAGGTCTTAGGCCTTCCCTCAGTTT AATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTT CTCTCACTTTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	398	0.0025	210	c.310 others(227): Show c.310-5000_310-4999insTAAAGTGAGAGAAGGCCAAAGACCTGGT ATGAAAGTGAGGGAAGGCCGAAGACCTGGTATTAAACTGAGGGAAGGCCT AAGACCTGGTATTAAACTGAGAGAAGGCCGAAGACCTGGTATTAAAGTGA GAGAAGGCCTAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGGT ATGAAAGTGAGAAAAGGCCGAAGACCTGGTAT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
C1orf159_chr1_1076823_1121089	1076881	G G	GGGGAGGC others(203): Show GGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGG GACTCCGTGCGGGGAGGCTGAGTCTATGGGGACTCCGTGCGGGGTGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGG GACTCCGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	326	0.0031	210	c.60 others(221): Show c.6011_*6012insGGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCA CGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCGCACGGAGTCCCC ATAGACTCAGCCTCCCCGCACGGAGTCCCCATAGACTCAGCCACCCCTCA CGGAGTCCCCGTAGACTCAGCCTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4941		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077180	C C	CCGGGAGG others(203): Show CCGGGAGGCTGAGGCTATGGGGACTCCGTGCAGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGG GGACTCCGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	326	0.0031	210	c.57 others(221): Show c.5712_*5713insCCACGGAGTCCCCATAGCCTCAGCCACCCCCCAC GGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGC CTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCA TAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCTGCAC GGAGTCCCCATAGCCTCAGCCTCCCG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4642		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077815	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	326	0.0031	210	c.50 others(221): Show c.5077_*5078insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4007		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077845	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	326	0.0031	210	c.50 others(221): Show c.5047_*5048insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3977		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077845	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CTGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	326	0.0031	210	c.50 others(221): Show c.5047_*5048insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACAGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3977		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077875	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACT CCGTGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	326	0.0031	210	c.50 others(221): Show c.5017_*5018insTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC GGCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3947		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078085	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	326	0.0031	210	c.48 others(221): Show c.4807_*4808insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCC TCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGT CCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3737		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078175	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG03927.hp1 HG01192.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0014 a0001c0001t0016g0020 a0001c0001t0001g0014 a0001c0001t0016g0020	2	326	0.0061	210	c.47 others(221): Show c.4717_*4718insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3647		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078410	G G	GGGGGAGG others(203): Show GGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGG GGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGAGGCT GAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTG CCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGG GGACTCCGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	326	0.0031	210	c.44 others(221): Show c.4482_*4483insGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAAC GGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGC CTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCA TAGCCACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCAC GGAGTCCCCATAGCCTCAGCCTCCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3412		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078505	A A	AGGCTGAG others(203): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	326	0.0031	210	c.43 others(221): Show c.4387_*4388insACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGT CCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCC CCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3317		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078531	G G	GGGGAGGC others(203): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCTGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	326	0.0031	210	c.43 others(221): Show c.4361_*4362insGGCACAGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCC ATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3291		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078681	C C	CGGGAGGC others(203): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	326	0.0031	210	c.42 others(221): Show c.4211_*4212insCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGCCTCAG CCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCA CGGAGTCCCCATAGCCTCAGCCTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3141		chr1	TogoVar
CABLES2_chr20_62383634_62412285	62398109	G G	GTGGTGGT others(203): Show GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGT GGTGGTGACGGTGGTGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGATGGTGGTG GAGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01943.hp1 HG01243.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0123 a0001c0001t0026g0124 a0001c0001t0001g0123 a0001c0001t0026g0124	2	400	0.0050	210	c.363 others(227): Show c.363-1518_363-1517insTCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCACCTCCACCACCATCACCACCA CCACCACCGTCACCACCACCACCACCACCACCACCATCACCACCACCTCC ACCACCATCACCACCACCACCACCGTCACCACCACCTCCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(203): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0107 a0003c0107	a0003c0107t0004 a0003c0107t0004	a0003c0107t0004g0184 a0003c0107t0004g0184	1	338	0.0030	210	c.300 others(227): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(203): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG00735.hp1 HG01167.hp2	a0023 a0023	a0023c0029 a0023c0029	a0023c0029t0001 a0023c0029t0001	a0023c0029t0001g0183 a0023c0029t0001g0194 a0023c0029t0001g0183 a0023c0029t0001g0194	2	338	0.0059	210	c.300 others(227): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191557	C C	CTGACCCA others(203): Show CTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTT TCGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGG GTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGG GGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGGCACACT CAGGGTTTTGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0003 a0008c0023t0003	a0008c0023t0003g0045 a0008c0023t0003g0045	1	338	0.0030	210	c.300 others(227): Show c.300-3341_300-3340insCTGTGTGGCCTCAGGCACACTCGGGGTC TCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGT TTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGGCACACTCAG GGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACT CGGGGTTTCGGTGACCCAGCAGGCTGGCCTGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNB4_chr2_151827771_152104044	151876665	G G	GCTATATT others(203): Show GCTATATTTTATATAAACTATATTTTATATGTATATGTGTGTATACTATA TTTTATATACTATACTATATACTATATTTTATATAAACTATATTTTATAT GTATATGTGTGTATACTATATTTTATATACTATACTATAGACTATATTTT ATATAAACTATATTTTATATGTATATGTGTGTATACTATATTTTATATAC TATACTATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0196 a0001c0001t0017g0196	1	230	0.0044	210	c.391 others(225): Show c.391-110_391-109insTATATAGTATAGTATATAAAATATAGTATA CACACATATACATATAAAATATAGTTTATATAAAATATAGTCTATAGTAT AGTATATAAAATATAGTATACACACATATACATATAAAATATAGTTTATA TAAAATATAGTATATAGTATAGTATATAAAATATAGTATACACACATATA CATATAAAATATAGTTTATATAAAATATAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	4/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152074603	T T	TCTCCACC others(203): Show TCTCCACCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCA TCACCCCCTCACCATTACCACCTCTATCATCACCATCACCCCCTCACCAT TACCACCTCCACCATCACCATCACCCCCTCACCATTACCACCTCTATCAT CACCATCACCCCCTCACCATTACCACCTCCACCATCACCATCACCCCCTC ACCATTACCAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG03471.hp1 HG02630.hp1 HG02896.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0027 a0001c0001t0002 a0001c0001t0004 a0001c0003t0027	a0001c0001t0002g0020 a0001c0001t0004g0128 a0001c0003t0027g0129 a0001c0001t0002g0020 a0001c0001t0004g0128 a0001c0003t0027g0129	3	230	0.0130	210	c.147 others(229): Show c.147+23726_147+23727insGTGGTAATGGTGAGGGGGTGATGGTG ATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGTGATGATAGAGGTGGTA ATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGTAATGGTGAGGGGGTGA TGGTGATGATAGAGGTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGG TGGTAATGGTGAGGGGGTGATGGTGATGGTGGAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152074609	C C	CCATCACC others(203): Show CCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCATCACCC CCTCACCATTACCACCTCTATCATCACCATCACCCCCTCACCATTACCAC CTCCACCATCACCATCACCCCCTCACCATTACCACCTCTATCATCACCAT CACCCCCTCACCATTACCACCTCCACCATCACCATCACCCCCTCACCATT ACCACCTCTAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	230	0.0044	210	c.147 others(229): Show c.147+23720_147+23721insATAGAGGTGGTAATGGTGAGGGGGTG ATGGTGATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGTGATGATAGAG GTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGTAATGGTGAGG GGGTGATGGTGATGATAGAGGTGGTAATGGTGAGGGGGTGATGGTGATGG TGGAGGTGGTAATGGTGAGGGGGTGATGGTGATG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(203): Show TATATACATATATACGCGTATATATATGTATATACATATATACGCGTATA TATATGTATATACATATATATACGCGTATATATATGTATATACATATATA CGCGTATATATATGTATATACATATATATACGCGTATATATATGTATATA CATATATATACGCGTATATATATGTATATACATATATATACGCGTATATA TATGTATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19240.hp1 HG02717.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0028 a0001c0001t0003 a0001c0001t0028	a0001c0001t0003g0040 a0001c0001t0028g0002 a0001c0001t0003g0040 a0001c0001t0028g0002	2	164	0.0122	210	c.125 others(229): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATATGTATATACATATATAT ACGCGTATATATATGTATATACATATATATACGCGTATATATGTATATAC ATATATATACGCGTATATATATGTATATACATATATATACGCGTATATAT GTATATACATATATATACGCGTATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(203): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18990.hp2 NA18991.hp1 others(1): Show NA18943.hp2 NA18990.hp2 NA18991.hp1 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0053 a0002c0002t0001g0147 a0002c0002t0001g0148 others(1): Show a0002c0002t0001g0053 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0003g0216	4	262	0.0153	210	c.218 others(225): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(203): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTGTGTGTATATATACACACACATATACACA CACGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18944.hp1 NA18972.hp1 others(1): Show HG00639.hp1 NA18944.hp1 NA18972.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004	a0002c0002t0001g0255 a0002c0002t0003g0014 a0002c0002t0003g0252 others(1): Show a0002c0002t0001g0255 a0002c0002t0003g0014 a0002c0002t0003g0252 a0002c0002t0004g0257	4	262	0.0153	210	c.218 others(225): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTGTGTGTATAT ATACACACACATATACACACACGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(203): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTGTGTG TATATATACACACATATATGTGTGTGTATATATACACACACATATACACA CACGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	262	0.0038	210	c.218 others(225): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTGTGTGTATATATACACACATATATGTGTGTGTATAT ATACACACACATATACACACACGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(203): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0048 a0002c0002t0019g0048	1	262	0.0038	210	c.218 others(225): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(203): Show CACACACATATATGTATGTGTATATACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01256.hp2 HG02738.hp2 others(2): Show HG01069.hp1 HG01256.hp2 HG02738.hp2 HG03927.hp2 HG04204.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0002 a0005c0006t0002 a0002c0002t0002 a0005c0006t0002	a0002c0002t0002g0066 a0002c0002t0002g0156 a0002c0002t0002g0259 others(2): Show a0002c0002t0002g0066 a0002c0002t0002g0156 a0002c0002t0002g0259 a0005c0006t0002g0015 a0005c0006t0002g0143	5	262	0.0191	210	c.218 others(225): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAC ACACACATATATGTGTGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(203): Show CACACACATATATGTATGTGTATATACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTG TATATATACACACATATATGTGTGTGTATATATACACACACATATACACA CACGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0202 a0002c0002t0002g0202	1	262	0.0038	210	c.218 others(225): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAC ACACACATATATGTGTGTGTATATATACACACATATATGTGTGTGTATAT ATACACACACATATACACACACGTGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CANT1_chr17_78986716_79014764	79004201	G G	GTTAGGGA others(203): Show GTTAGGGAAGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGTGTTAGGGAG AGGGGGGTTAGGGAGAGGGGGGTTAGGGAGAGGGGAGTTAGGGAGAGGAG TTGGGGGGGAGTTAGGGAGGGGTGTTAGGGAGAGGGGGGTTAGGGAGAGG GGGGTTAGGGAGAAGGGAGTTAGGGAAGGGAGTTAGGGAGAGGGGAGTTA GGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0236 a0003c0007t0006g0236	1	394	0.0025	210	c.-14 others(229): Show c.-147+5462_-147+5463insTCCCCCCTCCCTAACTCCCCTCTCCC TAACTCCCTTCCCTAACTCCCTTCTCCCTAACCCCCCTCTCCCTAACCCC CCTCTCCCTAACACCCCTCCCTAACTCCCCCCCAACTCCTCTCCCTAACT CCCCTCTCCCTAACCCCCCTCTCCCTAACCCCCCTCTCCCTAACACCCCT CCCTAACTCCCCTCTCCCTAACTCCCTTCCCTAA	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN11_chr6_44153820_44189401	44181787	A A	ACTCACAC others(203): Show ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC AGACACAACCACACCACACTCACACACACACACTCACATACAGACACAAC CACACCACACACACACACACAGACACAACCACACCACACACACACCCAAC CACACCACACT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0403 a0001c0001t0001g0403	1	460	0.0022	210	c.193 others(227): Show c.1938+468_1938+469insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACACACACACACAGACACAACC ACACCACACACACACCCAACCACACCACACTC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(203): Show AAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAG GAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0047 a0001c0002t0003g0047	1	364	0.0028	210	c.234 others(227): Show c.234+6849_234+6850insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCT CCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAGGAA others(203): Show AAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGA GAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01978.hp1 HG02293.hp1 HG01106.hp1 HG01978.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0108 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0108	3	364	0.0082	210	c.234 others(227): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AGGAGGAA others(203): Show AGGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGA GAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	364	0.0055	210	c.234 others(227): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761464	G G	GGGAAGGG others(203): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAG GAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAA GGAGAAGGAGA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	364	0.0028	210	c.234 others(227): Show c.234+6843_234+6844insTCTCCTTCTCCTTCTCCTTCTCCTTCTT CTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AAGGGCAA others(203): Show AAGGGCAACAGAATAAGACTCAGTCAAAAAAAAAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAG GAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0006 a0002c0003t0010g0006	1	364	0.0028	210	c.234 others(227): Show c.234+6831_234+6832insCCTTCTCCTTCCTCTTCCTCTCCTTCTC CTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT TTTTTTTTGACTGAGTCTTATTCTGTTGCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CD247_chr1_167425640_167523529	167435206	T T	TTCCTCCA others(203): Show TTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTT CCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTC CTCCGGAGCCC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	374	0.0027	210	c.336 others(225): Show c.336+192_336+193insGGGCTCCGGAGGAAGGGCTGGAGGAAGGGC TGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTC CGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCT GGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTG GAGGAGGGCTCCGGAGGAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CD247_chr1_167425640_167523529	167435206	T T	TTCCTCCA others(203): Show TTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCTGGAGCCCTCCTCCAGCCCTT CCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTC CTCCGGAGCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp2 HG03239.hp2 others(1): Show HG01243.hp2 HG01261.hp2 HG03239.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0223 a0001c0001t0001g0336 others(1): Show a0001c0001t0001g0175 a0001c0001t0001g0223 a0001c0001t0001g0336 a0001c0001t0001g0338	4	374	0.0107	210	c.336 others(225): Show c.336+192_336+193insGGGCTCCGGAGGAAGGGCTGGAGGAAGGGC TGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTC CAGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCT GGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTG GAGGAGGGCTCCGGAGGAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDH23_chr10_71391920_71820947	71688885	G G	GGGTGGTG others(203): Show GGGTGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTG GTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGGTGGTGGA GTCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAG GGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATG GTGGAGCCAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00621.hp1 others(58): Show HG00140.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01167.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG03041.hp1 HG03195.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18950.hp2 NA18953.hp1 NA18963.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18981.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp2 NA19043.hp1 NA19085.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(39): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0019 a0022 a0024 a0026 a0028 a0029 a0030 a0031 a0034 a0037 a0038 a0057 a0060 a0061 a0063 a0064 a0066 a0067 a0072 a0073 a0074 a0080 a0081 a0084 a0095 a0098 a0099 a0101 a0106	a0001c0001 a0001c0127 a0002c0087 others(51): Show a0001c0001 a0001c0127 a0002c0087 a0003c0089 a0003c0128 a0004c0027 a0004c0111 a0005c0003 a0005c0105 a0008c0123 a0010c0019 a0011c0033 a0011c0110 a0012c0004 a0013c0036 a0014c0015 a0014c0030 a0015c0042 a0015c0043 a0017c0086 a0019c0140 a0019c0145 a0022c0020 a0024c0029 a0024c0129 a0026c0046 a0026c0047 a0028c0016 a0029c0053 a0029c0119 a0030c0054 a0031c0058 a0031c0095 a0034c0097 a0037c0138 a0038c0137 a0057c0161 a0060c0031 a0061c0032 a0063c0112 a0064c0108 a0066c0034 a0067c0109 a0072c0041 a0073c0093 a0074c0049 a0080c0094 a0081c0098 a0084c0091 a0095c0085 a0098c0081 a0099c0067 a0101c0124 a0106c0132	a0001c0001t0011 a0001c0127t0001 a0002c0087t0004 others(54): Show a0001c0001t0011 a0001c0127t0001 a0002c0087t0004 a0003c0089t0002 a0003c0128t0001 a0004c0027t0005 a0004c0111t0006 a0005c0003t0001 a0005c0003t0002 a0005c0105t0002 a0008c0123t0017 a0010c0019t0009 a0011c0033t0014 a0011c0110t0002 a0012c0004t0001 a0012c0004t0002 a0013c0036t0004 a0014c0015t0002 a0014c0015t0010 a0014c0030t0001 a0015c0042t0020 a0015c0043t0006 a0017c0086t0006 a0019c0140t0008 a0019c0145t0009 a0022c0020t0003 a0024c0029t0003 a0024c0129t0004 a0026c0046t0001 a0026c0047t0002 a0028c0016t0012 a0029c0053t0001 a0029c0119t0010 a0030c0054t0005 a0031c0058t0001 a0031c0095t0001 a0034c0097t0007 a0037c0138t0009 a0038c0137t0025 a0057c0161t0008 a0060c0031t0007 a0061c0032t0003 a0063c0112t0002 a0064c0108t0006 a0066c0034t0001 a0067c0109t0005 a0072c0041t0001 a0073c0093t0001 a0074c0049t0001 a0080c0094t0001 a0081c0098t0003 a0084c0091t0011 a0095c0085t0001 a0098c0081t0011 a0099c0067t0005 a0101c0124t0006 a0106c0132t0001	a0001c0001t0011g0013 a0001c0127t0001g0146 a0002c0087t0004g0055 others(58): Show a0001c0001t0011g0013 a0001c0127t0001g0146 a0002c0087t0004g0055 a0003c0089t0002g0047 a0003c0128t0001g0121 a0004c0027t0005g0044 a0004c0111t0006g0088 a0005c0003t0001g0091 a0005c0003t0001g0119 a0005c0003t0002g0062 a0005c0105t0002g0074 a0008c0123t0017g0111 a0010c0019t0009g0025 a0010c0019t0009g0026 a0011c0033t0014g0094 a0011c0110t0002g0124 a0012c0004t0001g0097 a0012c0004t0002g0075 a0012c0004t0002g0087 a0013c0036t0004g0070 a0014c0015t0002g0096 a0014c0015t0010g0004 a0014c0030t0001g0145 a0015c0042t0020g0001 a0015c0043t0006g0095 a0017c0086t0006g0065 a0019c0140t0008g0002 a0019c0145t0009g0023 a0022c0020t0003g0172 a0024c0029t0003g0196 a0024c0129t0004g0093 a0026c0046t0001g0140 a0026c0047t0002g0069 a0028c0016t0012g0014 a0028c0016t0012g0015 a0029c0053t0001g0131 a0029c0119t0010g0007 a0030c0054t0005g0118 a0031c0058t0001g0153 a0031c0095t0001g0185 a0034c0097t0007g0186 a0037c0138t0009g0024 a0038c0137t0025g0064 a0057c0161t0008g0018 a0060c0031t0007g0139 a0061c0032t0003g0122 a0063c0112t0002g0102 a0064c0108t0006g0045 a0066c0034t0001g0158 a0067c0109t0005g0114 a0072c0041t0001g0178 a0073c0093t0001g0183 a0074c0049t0001g0081 a0080c0094t0001g0161 a0081c0098t0003g0162 a0084c0091t0011g0012 a0095c0085t0001g0168 a0098c0081t0011g0028 a0099c0067t0005g0104 a0101c0124t0006g0054 a0106c0132t0001g0144	61	196	0.3112	210	c.205 others(229): Show c.2059+1182_2059+1183insGTGGTGGAGCCAGGGGTGGTGGAGTC AGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGG TGGTGGAGTCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCGTG GACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAGTC AGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDHR2_chr5_176544342_176600824	176591707	G G	GTGGTGAT others(203): Show GTGGTGATGATGGTGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0176 a0001c0008t0001g0177 a0001c0008t0001g0176 a0001c0008t0001g0177	2	344	0.0058	210	c.373 others(227): Show c.3734+225_3734+226insGTGATGATGGTGGTGATGGTGATGGTTG TGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGG TTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGA TGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGG TGATGGTTGTGATGGTGATGGTGGTGATGATG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CELF4_chr18_37238040_37570798	37337987	C C	CCATTGTC others(203): Show CCATTGTCACCACTACTGTCACTGCCACCACCACCACTGTCGCTGCCACC ATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACACCATTGTCAC CACTATCATTGTCACCACTACTGTCACTGCCACCACCACCACTGTCGCTG CCACCATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACACCATT GTCACCACTAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18522.hp2 HG02922.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0177 a0001c0001t0004g0001 a0001c0001t0001g0177 a0001c0001t0004g0001	2	184	0.0109	210	c.370 others(229): Show c.370-16107_370-16106insATAGTGGTGACAATGGTGTCAGTGAC AGTCATAGTGACAAGGTTAAGGTAACAGATGGTGGCAGCGACAGTGGTGG TGGTGGCAGTGACAGTAGTGGTGACAATGATAGTGGTGACAATGGTGTCA GTGACAGTCATAGTGACAAGGTTAAGGTAACAGATGGTGGCAGCGACAGT GGTGGTGGTGGCAGTGACAGTAGTGGTGACAATG	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37338381	T T	TGTCACTG others(203): Show TGTCACTGACACCATTGTCACCACTATCATTGTCACCACTACTGTCACTG CCACCACCACCACTGTCGCTGCCACCATCTGTTACCTTAACCTTGTCACT ATGACTGTCACTGACACCATTGTCACCACTATCATTGTCACCACTACTGT CACTGCCACCACCACCACTGTCGCTGCCACCATCTGTTACCTTAACCTTG TCACTATGACC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	184	0.0054	210	c.370 others(229): Show c.370-16501_370-16500insGGTCATAGTGACAAGGTTAAGGTAAC AGATGGTGGCAGCGACAGTGGTGGTGGTGGCAGTGACAGTAGTGGTGACA ATGATAGTGGTGACAATGGTGTCAGTGACAGTCATAGTGACAAGGTTAAG GTAACAGATGGTGGCAGCGACAGTGGTGGTGGTGGCAGTGACAGTAGTGG TGACAATGATAGTGGTGACAATGGTGTCAGTGAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELSR1_chr22_46356174_46542620	46487606	C C	CGGGGGAG others(203): Show CGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTC CAGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGG GGGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGCGGGGGAGGG GAGTCCAGGGTGCAGGTGGGAGGCGCGGGGGAGGGGAGTCCAGGGTGCAG GTGGGGGGCGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01099.hp2 others(6): Show HG00642.hp2 HG00735.hp1 HG01099.hp2 HG01261.hp1 HG03471.hp2 HG03710.hp2 NA19043.hp2 NA20129.hp2 NA20300.hp1	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0007 a0020 a0026 a0032 a0038	a0001c0001 a0001c0028 a0003c0015 others(6): Show a0001c0001 a0001c0028 a0003c0015 a0006c0017 a0007c0013 a0020c0043 a0026c0038 a0032c0018 a0038c0007	a0001c0001t0001 a0001c0028t0001 a0003c0015t0001 others(6): Show a0001c0001t0001 a0001c0028t0001 a0003c0015t0001 a0006c0017t0001 a0007c0013t0001 a0020c0043t0001 a0026c0038t0008 a0032c0018t0002 a0038c0007t0001	a0001c0001t0001g0075 a0001c0028t0001g0079 a0003c0015t0001g0022 others(6): Show a0001c0001t0001g0075 a0001c0028t0001g0079 a0003c0015t0001g0022 a0006c0017t0001g0018 a0007c0013t0001g0023 a0020c0043t0001g0052 a0026c0038t0008g0026 a0032c0018t0002g0021 a0038c0007t0001g0004	9	104	0.0865	210	c.354 others(231): Show c.3545-23262_3545-23261insACGCCCCCCACCTGCACCCTGGAC TCCCCTCCCCCGCGCCTCCCACCTGCACCCTGGACTCCCCTCCCCCGCGC CCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCCCCACCTGCACCC TGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCCC CGCGCCCCCCACCTGCACCCTGGACTCCCCTCCCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CEP72_chr5_607340_658553	650908	T T	TGTGACTG others(203): Show TGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01192.hp1 others(6): Show HG01069.hp1 HG01070.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01517.hp1 HG03688.hp2 HG03834.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025	9	91	0.0989	210	c.177 others(229): Show c.1779-2077_1779-2076insACTGTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCATGGACTGTGAGGTGTGACTGA GGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 10000 hits)