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
ATP11A_chr13_112685038_112892168	112863301	G G	GCAGTAAT others(209): Show GCAGTAATTCAGTGCAGGCCCTGCAGCTTCCCAGCGGGGTCCATCACCAC CTGCGCAGTAATTCAGTGCAGCCCATGCAGCTTCCCAGCGGGGTCCATCA CCACCTGCGCAGTAATTCAGTGCAAACCATGCAGCTTCCCAGCGGGGTCC ATCACCACCTGCGCAGTAATTCAGTGCAGCCCATGCAGCTTCCCAGCGGG GTCCATCACCACCTGCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp1 HG02886.hp1 others(9): Show HG02258.hp1 HG02809.hp1 HG02886.hp1 HG02965.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG06807.hp2 NA20129.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0009 a0001c0014 others(3): Show a0001c0004 a0001c0009 a0001c0014 a0001c0024 a0001c0029 a0004c0027	a0001c0004t0003 a0001c0004t0042 a0001c0009t0048 others(4): Show a0001c0004t0003 a0001c0004t0042 a0001c0009t0048 a0001c0014t0003 a0001c0024t0038 a0001c0029t0051 a0004c0027t0074	a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0079 others(9): Show a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0004t0003g0149 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0042g0057 a0001c0009t0048g0045 a0001c0014t0003g0178 a0001c0024t0038g0043 a0001c0029t0051g0046 a0004c0027t0074g0155	12	254	0.0472	216	c.299 others(233): Show c.2991+742_2991+743insGCCCTGCAGCTTCCCAGCGGGGTCCATC ACCACCTGCGCAGTAATTCAGTGCAGCCCATGCAGCTTCCCAGCGGGGTC CATCACCACCTGCGCAGTAATTCAGTGCAAACCATGCAGCTTCCCAGCGG GGTCCATCACCACCTGCGCAGTAATTCAGTGCAGCCCATGCAGCTTCCCA GCGGGGTCCATCACCACCTGCACAGTAATTCAGTGCAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79309034	C C	CTGAGGAG others(209): Show CTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCC CCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAG GTCAGGGGCTGAGGAGTGATCCCCAGCAGGGAGAAGGTCCGGGGCGGAGG AGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCA GGTAGAAGGTCAGGGGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0098 a0001c0004t0003g0098	1	298	0.0034	216	c.177 others(235): Show c.1773+1835_1773+1836insCTGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGA GGAGTGATCCCCAGCAGGGAGAAGGTCCGGGGCGGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCA GGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309050	A A	AGCAGGTA others(209): Show AGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGT CAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAG TGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGG TAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGG CTGAGTAGTGATCCTCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0243 a0002c0005t0001g0243	1	298	0.0034	216	c.177 others(235): Show c.1773+1835_1773+1836insCTGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGA GGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCA GGGGCTGAGTAGTGATCCTCCGCAGGTAGAAGGTCAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309109	T T	AGGAGTGA others(209): Show AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCA GCAGGGAGAAGGTCCGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGT GATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGT AGAAGGTCAGGGGTGGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0097 a0001c0004t0002g0097	1	298	0.0034	216	c.177 others(235): Show c.1773+1874_1773+1875insAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGCTGAGGAGTGATCCCCAGCAGGGAGAAGGTCCGGGGCGGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAG GTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309247	G G	GGGCTGAG others(209): Show GGGCTGAGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGA TCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAG AAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGG AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCA GCAGGTAGAAGGTCAGA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	298	0.0034	216	c.177 others(235): Show c.1773+2016_1773+2017insTGAGGACTGATCCCCAGCAGGTAGAA GGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAG GAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGAGGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309361	A A	AGGAGTGA others(209): Show AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCA GCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGT GATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGT AGAAGGTCAGGGGTGGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG02717.hp2 HG03195.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0017 a0001c0014t0006g0093 a0001c0014t0006g0017 a0001c0014t0006g0093	2	298	0.0067	216	c.177 others(235): Show c.1773+2159_1773+2160insTGGAGGAGTGATCTCCAGCAGGTAGA AGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGA GGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCA GGGGTGGTGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309479	C C	CCCAGCAG others(209): Show CCCAGCAGGTAGAAGGTCAGGGGCTGAGGACTGATCCCCAGCAGGTAGAA GGTCAGGGGCTGAGGAGTGATCCCCAGCAGGGAGAAGGTCCGGGGCGGAG GAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGC AGGTAGAAGGTCAGGGGTGGTGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGTGGAGGAGTGATCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG02630.hp2 others(1): Show HG01952.hp2 HG02055.hp2 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0003 a0001c0004t0002 a0001c0004t0003	a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 others(1): Show a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 a0001c0004t0003g0098	4	298	0.0134	216	c.177 others(235): Show c.1773+2267_1773+2268insCTGAGGACTGATCCCCAGCAGGTAGA AGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGGAGAAGGTCCGGGGCGGA GGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAG CAGGTAGAAGGTCAGGGGTGGTGGAGTGATCCCCAGCAGGTAGAAGGTCA GGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATXN7L1_chr7_105599772_105881599	105733678	C C	CCATCCAT others(209): Show CCATCCATCCATCCATCCACCCATCCACCCATCCATCCATTCATCCATCC ACCCATCCATCCATCCACCCATCCATCCACCCAACCACCCATCCATCCAC CCCTCCATCCGTCCATCCATCCACCCATCCATCCATCCACCCATCCACCC ATTCATCCATCCACCCATCCATCCATCCATCCATCCATCCATTCATCCAT CCACCCATCCATCCATT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0218 a0001c0001t0007g0218	1	252	0.0040	216	c.355 others(235): Show c.355+54925_355+54926insAATGGATGGATGGGTGGATGGATGAA TGGATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGGATG GGTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGATGGA TGGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGGATG AATGGATGGATGGGTGGATGGGTGGATGGATGGATGGATG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733772	G G	GTCCACCC others(209): Show GTCCACCCATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCAT CCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACC ACCCATCCTTCCATCCATCCACCCAACCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCTATGCTTCCATCCATCCACCC ATCCATCCATTCATCCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0190 a0001c0001t0045g0190	1	252	0.0040	216	c.355 others(235): Show c.355+54831_355+54832insTGGATGAATGGATGGATGGGTGGATG GATGGAAGCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGGTGGTTGGGTGGATGGATGGAAGGATGGGTGGTTGGGTG GATGGATGGAAGGATGGATGGATGGGTGGATGGATGAATGGATGGATGGG TGGATGGATGAATGGATGGATGGGTGGATGGATGGGTGGA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105733772	G G	GTCCACCC others(209): Show GTCCACCCATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCAT CCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACC ACCCATCCTTCCATCCATCCACCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCTATGCTTCCATCCATCCACCC ATCCATCCATTCATCCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0229 a0001c0001t0057g0229	1	252	0.0040	216	c.355 others(235): Show c.355+54831_355+54832insTGGATGAATGGATGGATGGGTGGATG GATGGAAGCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGTTGGGTGGATGGATGGAAGGATGGGTGGTTGGGTG GATGGATGGAAGGATGGATGGATGGGTGGATGGATGAATGGATGGATGGG TGGATGGATGAATGGATGGATGGGTGGATGGATGGGTGGA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	82970520	C C	CCACCCGG others(209): Show CCACCCGGCGTGGCCGCGACCTCCCCACCCGGCGTGGCCGCGACCTCCGC ACCCGGCGTGGCCGCGACCTCCCCACCCGGCGTGGCCGCGACCTCCGCAC CCGGCGTGGCCGCGACCTCCGCACCCGGCGTGGCCGCGACCTCCGCACCC GGCGTGGCCGCGACCTCCGCACCCGGCGTGGCCGCGACCTCCGCACCCGG CGTGGCCGCGACCTCCG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0240 a0001c0007t0004g0240	1	266	0.0038	216	c.460 others(233): Show c.460-4775_460-4774insCGGAGGTCGCGGCCACGCCGGGTGCGGA GGTCGCGGCCACGCCGGGTGCGGAGGTCGCGGCCACGCCGGGTGCGGAGG TCGCGGCCACGCCGGGTGCGGAGGTCGCGGCCACGCCGGGTGCGGAGGTC GCGGCCACGCCGGGTGGGGAGGTCGCGGCCACGCCGGGTGCGGAGGTCGC GGCCACGCCGGGTGGGGAGGTCGCGGCCACGCCGGGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82970646	G G	GGCGTGGC others(209): Show GGCGTGGCCGCGACCTCCCCACCCGGCGTGGCCGCGACCTCCCCACCCGG CGTGGCCGCGACCTCCCCACCCGGCGTGGCCGCGACCTCCCCACCCGGCG TGGCCGCGACCTCCCCACCCGGCGTGGCCGCGACCTCCGCACCCGGCGTG GCCGTGACCTCTGCACATGGTGTGGCTGTGACCTCTGCACATGGCGTGGC CGTGACCTCCCCACCCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0017 a0001c0011t0017	a0001c0011t0017g0145 a0001c0011t0017g0145	1	266	0.0038	216	c.460 others(233): Show c.460-4901_460-4900insTGGGTGGGGAGGTCACGGCCACGCCATG TGCAGAGGTCACAGCCACACCATGTGCAGAGGTCACGGCCACGCCGGGTG CGGAGGTCGCGGCCACGCCGGGTGGGGAGGTCGCGGCCACGCCGGGTGGG GAGGTCGCGGCCACGCCGGGTGGGGAGGTCGCGGCCACGCCGGGTGGGGA GGTCGCGGCCACGCCGGGTGGGGAGGTCGCGGCCACGC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(209): Show GAGGGGGGAGGGGGAGGGGGAAGGAGAGGGGGGATGGGGATGGGGGAGGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGG GAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGA GGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	298	0.0034	216	c.51+ others(229): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCC ATCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(209): Show GGGAGGGAGAGGGGGGAGGAGGGAGGGAGAGGGGGGAGGGGGGAGGGGGA GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGAGAGGGGGGAT GGGGGAGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGAGGGGGGAG GGGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGA GGTGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0294 a0001c0003t0003g0294	1	298	0.0034	216	c.51+ others(229): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCCCTCTCCCT CCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTCCCCCTCCCCCCTC CCCCCTCTCCCTCCCTCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(209): Show GGGAGGGAGGGGGAGGGGGGAGGGGAGGGAGGGGGAGGGGGAAGGAGAGG GGGGATGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGGAGG GAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGA GGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	298	0.0034	216	c.51+ others(229): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCTCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCCTCCCCATCCCCCCTCTCCTTCCCCCT CCCCCTCCCTCCCCTCCCCCCTCCCCCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BCL11A_chr2_60452194_60558654	60467525	A A	ATGGTACT others(209): Show ATGGTACTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGCTACTGGT GGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAA TGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGATGGTACTG GTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGT GGTGGTGGTAGTGATGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0107 a0001c0003t0002g0107	1	262	0.0038	216	c.487 others(233): Show c.487+1206_487+1207insCCATCACTACCACCACCACCACCACCAC CATTACCACCACCATCACTACCACCACCACCATCACCACCAGTACCATCA CCACCACCACCATCACTACCACCACCACCACCACCACCATTACCACCACC ATCACTACCACCACCACCATCACCACCAGTACCATCACCACCAGTAGCAT CACCACCACCACCACCATCACCATCACCACCAGTACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BRSK2_chr11_1384934_1467689	1396185	T T	TCTCTTCC others(209): Show TCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCAC TCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTT CCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACG TCCCCCACTCCTGGTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18944.hp1 HG03540.hp2 NA18944.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0194 a0002c0002t0002g0155 a0001c0001t0003g0194 a0002c0002t0002g0155	2	360	0.0056	216	c.91+ others(231): Show c.91+5928_91+5929insCCACCCACGTCCCCCACTCCTGGTCCCTCT TCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCAC GTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTG GTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT CCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396185	T T	TCTCTTCC others(209): Show TCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCGC TCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCCGCTCCTCGTCTCTCTT CCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACG TCCCCCACTCCTGGTCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	360	0.0028	216	c.91+ others(231): Show c.91+5907_91+5908insGCTCCTCGTCTCTCTTCCCTTCCACCCACG TCCCCCGCTCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCCACTCCTGG TCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTC CACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCC ACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396221	C C	CCTCTTCC others(209): Show CCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCAC TCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTT CCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACG TCCCCCGCTCCTCGTCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0309 a0002c0002t0007g0309	1	360	0.0028	216	c.91+ others(231): Show c.91+5928_91+5929insCCACCCACGTCCCCCACTCCTGGTCCCTCT TCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCAC GTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCGCTCCTC GTCTCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT CCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396221	C C	CCTCTTCC others(209): Show CCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCAC TCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTT CCCTTCCACCCACGTCCCCCGCTCCTCGTCTCTCTTCCCTTCCACCCACG TCCCCCGCTCCTCGTCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp2 HG02647.hp2 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0016 a0001c0001t0003 a0002c0002t0016	a0001c0001t0003g0232 a0002c0002t0016g0207 a0001c0001t0003g0232 a0002c0002t0016g0207	2	360	0.0056	216	c.91+ others(231): Show c.91+5928_91+5929insCCACCCACGTCCCCCACTCCTGGTCCCTCT TCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCAC GTCCCCCGCTCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCCGCTCCTC GTCTCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT CCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396221	C C	CCTCTTCC others(209): Show CCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCGCTCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCCAC TCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCGCTCCTCGTCTCTCTT CCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACG TCCCCCGCTCCTCGTCT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0305 a0002c0002t0017g0305	1	360	0.0028	216	c.91+ others(231): Show c.91+5907_91+5908insGCTCCTCGTCTCTCTTCCCTTCCACCCACG TCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCGCTCCTCG TCTCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTC CACCCACGTCCCCCGCTCCTCGTCTCTCTTCCCTTCCACCCACGTCCCCC ACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1396257	C C	CCTCTTCC others(209): Show CCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCA CCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCAC TCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTT CCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACG TCCCCCACTCCTCGTCT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	360	0.0028	216	c.91+ others(231): Show c.91+5928_91+5929insCCACCCACGTCCCCCACTCCTGGTCCCTCT TCCCTTCCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCAC GTCCCCCACTCCTGGTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTG GTCCCTCTTCCCTTCCACCCACGTCCCCCACTCCTCGTCTCTCTTCCCTT CCACCCACGTCCCCCACTCCTGGTCCCTCTTCCCTT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(209): Show TATATATATTATATATATTATATATAATATATATTATATATTATATATAA TATATGTTATATATAATATATATTATATATTATATATAATATAAAATATA TATTATATATAATATATATTATATATTATATAAAATATATATTATATATA ATATTATATAAAATATATATTATATATAATATATATTATATATTATATAA AATATATATTATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0203 a0001c0001t0004g0203	1	218	0.0046	216	c.314 others(235): Show c.314-50897_314-50896insTATATATAATATATATTTTATATAAT ATATAATATATATTATATATAATATATATTTTATATAATATTATATATAA TATATATTTTATATAATATATAATATATATTATATATAATATATATTTTA TATTATATATAATATATAATATATATTATATATAACATATATTATATATA ATATATAATATATATTATATATAATATATATAATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
CABLES1_chr18_23130485_23265470	23218258	A A	ACATCCTC others(209): Show ACATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCAT CCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCC TCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTC ACTTGCCCTGCCTCCCG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02622.hp1 HG01167.hp2 HG01169.hp1 HG02622.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0002 a0004c0008t0002 a0001c0001t0002 a0004c0008t0002	a0001c0001t0002g0104 a0004c0008t0002g0185 a0004c0008t0002g0186 a0001c0001t0002g0104 a0004c0008t0002g0185 a0004c0008t0002g0186	3	278	0.0108	216	c.108 others(235): Show c.1088+4317_1088+4318insCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218420	C C	CCTCCCGC others(209): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	278	0.0036	216	c.108 others(235): Show c.1088+4413_1088+4414insGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218564	C C	CCTCCCGC others(209): Show CCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp1 HG03471.hp2 HG02976.hp1 HG03195.hp1 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0091 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0091	3	278	0.0108	216	c.108 others(235): Show c.1088+4533_1088+4534insGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNG6_chr19_53986637_54017666	53990931	T T	TTCAGGCC others(209): Show TTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAAGTCCAGGCCCCAGTC CCTCCTCCCTCAGACTCAGGAGCCCAGGCCCAGCCCCTCCTCCCTCAGAC CCAGGAGTCCAGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGAC CCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCA CCTTCAGACCCAGGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0287 a0001c0001t0040g0287	1	430	0.0023	216	c.-19 others(227): Show c.-1947_-1946insTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAA GTCCAGGCCCCAGTCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGGCCCTCCTCCCTCAGA CCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGG CCCCCAGCCCCTCCACCTTCAGACCCAGGAGC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		705		chr19	TogoVar
CACNG6_chr19_53986637_54017666	53990931	T T	TTCAGGCC others(209): Show TTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAAGTCCAGGCCCCAGTC CCTCCTCCCTCAGACTCAGGAGCCCAGGCCCAGCCCCTCCTCCCTCAGAC CCAGGAGTTCAGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGAC CCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCA CCTTCAGACCCAGGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp2 others(132): Show HG00099.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03491.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0012 a0002c0004 others(1): Show a0001c0001 a0001c0012 a0002c0004 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0022 a0001c0001t0035 a0001c0012t0001 a0002c0004t0001 a0008c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(122): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0259 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0359 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0386 a0001c0001t0001g0388 a0001c0001t0001g0390 a0001c0001t0001g0394 a0001c0001t0001g0397 a0001c0001t0001g0403 a0001c0001t0001g0407 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0143 a0001c0001t0002g0175 a0001c0001t0002g0202 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0299 a0001c0001t0002g0314 a0001c0001t0002g0324 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0391 a0001c0001t0002g0392 a0001c0001t0002g0406 a0001c0001t0007g0016 a0001c0001t0007g0251 a0001c0001t0007g0315 a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0007g0385 a0001c0001t0007g0387 a0001c0001t0007g0389 a0001c0001t0007g0393 a0001c0001t0007g0395 a0001c0001t0007g0396 a0001c0001t0007g0399 a0001c0001t0007g0400 a0001c0001t0007g0401 a0001c0001t0014g0030 a0001c0001t0014g0282 a0001c0001t0014g0371 a0001c0001t0022g0318 a0001c0001t0035g0307 a0001c0012t0001g0361 a0002c0004t0001g0013 a0002c0004t0001g0316 a0002c0004t0001g0348 a0002c0004t0001g0364 a0008c0007t0001g0321	135	430	0.3140	216	c.-19 others(227): Show c.-1947_-1946insTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAA GTCCAGGCCCCAGTCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCAGCC CCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCAGGCCCTCCTCCCTCAGA CCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGG CCCCCAGCCCCTCCACCTTCAGACCCAGGAGC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		705		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990931	T T	TTCAGGCC others(209): Show TTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAAGTCCAGGCCCCAGTC CCTCCTCCCTCAGACTCAGGAGCCCAGGCCCAGCCCCTCCTCCCTCAGAC CCAGGAGTCCAGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGAC CCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCA CCTTCAGACCCAGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0209 a0001c0001t0109g0209	1	394	0.0025	216	c.80 others(227): Show c.8082_*8083insTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAA GTCCAGGCCCCAGTCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGGCCCTCCTCCCTCAGA CCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGG CCCCCAGCCCCTCCACCTTCAGACCCAGGAGC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		717		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990931	T T	TTCAGGCC others(209): Show TTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAAGTCCAGGCCCCAGTC CCTCCTCCCTCAGACTCAGGAGCCCAGGCCCAGCCCCTCCTCCCTCAGAC CCAGGAGTTCAGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGAC CCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCA CCTTCAGACCCAGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(104): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG02004.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03491.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp2 NA18612.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(38): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0029 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0094 a0001c0001t0101 a0001c0001t0105 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0115 a0001c0001t0117 a0001c0001t0134 a0001c0001t0137 a0001c0001t0139 a0001c0001t0142 a0001c0001t0145 a0002c0003t0116	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0022 others(84): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0022 a0001c0001t0002g0040 a0001c0001t0002g0102 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0174 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0243 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0257 a0001c0001t0006g0003 a0001c0001t0006g0076 a0001c0001t0006g0158 a0001c0001t0006g0210 a0001c0001t0006g0219 a0001c0001t0006g0246 a0001c0001t0006g0253 a0001c0001t0006g0259 a0001c0001t0014g0003 a0001c0001t0014g0213 a0001c0001t0014g0247 a0001c0001t0014g0248 a0001c0001t0017g0037 a0001c0001t0017g0179 a0001c0001t0017g0260 a0001c0001t0019g0001 a0001c0001t0019g0041 a0001c0001t0019g0214 a0001c0001t0019g0256 a0001c0001t0023g0021 a0001c0001t0023g0199 a0001c0001t0027g0155 a0001c0001t0027g0254 a0001c0001t0027g0255 a0001c0001t0029g0001 a0001c0001t0029g0232 a0001c0001t0044g0237 a0001c0001t0045g0218 a0001c0001t0045g0225 a0001c0001t0046g0039 a0001c0001t0047g0001 a0001c0001t0047g0249 a0001c0001t0048g0041 a0001c0001t0048g0170 a0001c0001t0049g0244 a0001c0001t0051g0001 a0001c0001t0051g0022 a0001c0001t0052g0188 a0001c0001t0054g0157 a0001c0001t0057g0154 a0001c0001t0058g0216 a0001c0001t0059g0001 a0001c0001t0060g0001 a0001c0001t0075g0240 a0001c0001t0076g0185 a0001c0001t0077g0021 a0001c0001t0078g0001 a0001c0001t0094g0151 a0001c0001t0101g0009 a0001c0001t0105g0094 a0001c0001t0108g0229 a0001c0001t0110g0003 a0001c0001t0111g0235 a0001c0001t0112g0001 a0001c0001t0113g0100 a0001c0001t0115g0022 a0001c0001t0117g0207 a0001c0001t0134g0003 a0001c0001t0137g0186 a0001c0001t0139g0238 a0001c0001t0142g0231 a0001c0001t0145g0003 a0002c0003t0116g0268	107	394	0.2716	216	c.80 others(227): Show c.8082_*8083insTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGAA GTCCAGGCCCCAGTCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCAGCC CCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCAGGCCCTCCTCCCTCAGA CCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGG CCCCCAGCCCCTCCACCTTCAGACCCAGGAGC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		717		chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12694165	C C	CATAATAT others(209): Show CATAATATATATTATATATTATATAAAATATATTATGCATAATATATATT ATATATTATATAAAATATATATTATGCATAATATATATTATATATTATAT AATATATAATATATATTATATATTATATAATATATAATATATATTATATA TTATATAATATATAATATATATTATATATTATATAATATATAATATATAT TATATATTATATAATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03130.hp1 NA19030.hp2 HG02559.hp2 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0091 a0001c0001t0102 a0001c0002t0010 a0001c0001t0091 a0001c0001t0102 a0001c0002t0010	a0001c0001t0091g0030 a0001c0001t0102g0010 a0001c0002t0010g0079 a0001c0001t0091g0030 a0001c0001t0102g0010 a0001c0002t0010g0079	3	214	0.0140	216	c.299 others(235): Show c.299+27373_299+27374insTATATAAAATATATTATGCATAATAT ATATTATATATTATATAAAATATATATTATGCATAATATATATTATATAT TATATAATATATAATATATATTATATATTATATAATATATAATATATATT ATATATTATATAATATATAATATATATTATATATTATATAATATATAATA TATATTATATATTATATAATATATAATATATATTATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAPN12_chr19_38725192_38749474	38736581	A A	AAGGGGCG others(209): Show AAGGGGCGTCGGGGCAGGGGAGAGAGGGGAGAGAGGGGCGTCGGGGCAGG GGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAG AGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAG GGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGC GTCGGGGCAGGGGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0030 a0003c0005t0004g0030	1	342	0.0029	216	c.136 others(231): Show c.1363-19_1363-18insCTCTCCCCTGCCCCGACGCCCCTCTCTCCC CTGCCCCGACGCCCCTCTCTCCCCTGCCCCGACGCCCCTCTCTCCCCTGC CCCGACGCCCCTCTCTCCCCTGCCCCGACGCCCCTCTCTCCCCTGCCCCG ACGCCCCTCTCTCCCCTGCCCCGACGCCCCTCTCTCCCCTGCCCCGACGC CCCTCTCTCCCCTCTCTCCCCTGCCCCGACGCCCCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	10/20			chr19	TogoVar
CAPN15_chr16_522712_559636	534178	T T	TGGGCCGT others(209): Show TGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCC CGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGG GTCCCGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCC CGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGC GGCCCGGGGTCCCGACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01891.hp1 HG02622.hp2 others(11): Show HG00140.hp1 HG01891.hp1 HG02622.hp2 HG02818.hp2 HG02895.hp2 HG03209.hp2 NA18947.hp2 NA18955.hp1 NA18975.hp1 NA19003.hp1 NA19007.hp1 NA19068.hp1 NA19077.hp1 NA19088.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0017	a0001c0001 a0001c0002 a0001c0017 others(6): Show a0001c0001 a0001c0002 a0001c0017 a0001c0028 a0002c0010 a0002c0035 a0002c0039 a0008c0026 a0017c0038	a0001c0001t0001 a0001c0002t0002 a0001c0017t0012 others(6): Show a0001c0001t0001 a0001c0002t0002 a0001c0017t0012 a0001c0028t0002 a0002c0010t0001 a0002c0035t0004 a0002c0039t0001 a0008c0026t0002 a0017c0038t0001	a0001c0001t0001g0390 a0001c0002t0002g0140 a0001c0002t0002g0293 others(11): Show a0001c0001t0001g0390 a0001c0002t0002g0140 a0001c0002t0002g0293 a0001c0002t0002g0346 a0001c0017t0012g0365 a0001c0028t0002g0302 a0002c0010t0001g0022 a0002c0010t0001g0032 a0002c0010t0001g0033 a0002c0010t0001g0034 a0002c0035t0004g0400 a0002c0039t0001g0031 a0008c0026t0002g0282 a0017c0038t0001g0035	14	410	0.0342	216	c.-13 others(233): Show c.-137+233_-137+234insGGGGCCGTGGTCCTGTCGTGGGAGGCGA CGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAG GCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGTCGTG GGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGT CGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGAC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	534178	T T	TGGGCCGT others(209): Show TGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCC CGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGG GTCCCGACGGGGCCGTGTTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCC CGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGC GGCCCGGGGTCCCGACG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0001 a0005 a0001 a0005	a0001c0022 a0005c0015 a0001c0022 a0005c0015	a0001c0022t0001 a0005c0015t0004 a0001c0022t0001 a0005c0015t0004	a0001c0022t0001g0303 a0005c0015t0004g0253 a0001c0022t0001g0303 a0005c0015t0004g0253	2	410	0.0049	216	c.-13 others(233): Show c.-137+233_-137+234insGGGGCCGTGGTCCTGTCGTGGGAGGCGA CGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGTTCCTGTCGTGGGAG GCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGTCGTG GGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGT CGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGAC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	534178	T T	TGGGCCGT others(209): Show TGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCC CGACGGGGCCGTGTTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGG GTCCCGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCC CGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGC GGCCCGGGGTCCCGACG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG02083.hp2 others(19): Show HG00544.hp1 HG00609.hp2 HG02083.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18951.hp1 NA18954.hp1 NA18965.hp2 NA18966.hp2 NA18984.hp1 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19056.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0042 a0001c0051 a0001c0061 a0003c0014 a0003c0049	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(9): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0028 a0001c0004t0002 a0001c0004t0003 a0001c0008t0001 a0001c0042t0002 a0001c0051t0002 a0001c0061t0002 a0003c0014t0001 a0003c0049t0002	a0001c0001t0002g0008 a0001c0001t0002g0052 a0001c0001t0002g0317 others(18): Show a0001c0001t0002g0008 a0001c0001t0002g0052 a0001c0001t0002g0317 a0001c0001t0002g0388 a0001c0002t0001g0307 a0001c0002t0001g0319 a0001c0002t0002g0051 a0001c0002t0002g0341 a0001c0002t0002g0343 a0001c0002t0028g0316 a0001c0004t0002g0311 a0001c0004t0002g0315 a0001c0004t0002g0318 a0001c0004t0003g0312 a0001c0008t0001g0310 a0001c0042t0002g0309 a0001c0051t0002g0313 a0001c0061t0002g0314 a0003c0014t0001g0308 a0003c0014t0001g0320 a0003c0049t0002g0383	22	410	0.0537	216	c.-13 others(233): Show c.-137+233_-137+234insGGGGCCGTGTTCCTGTCGTGGGAGGCGA CGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAG GCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGTCGTG GGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGT CGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGAC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	534178	T T	TGGGCCGT others(209): Show TGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCC CGACGGGGCCGTGTTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGG GTCCCGACGGGGCCGTGTTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCC CGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGC GGCCCGGGGTCCCGACG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00597.hp2 others(25): Show HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18948.hp2 NA18966.hp1 NA18969.hp2 NA18979.hp1 NA18983.hp1 NA18990.hp2 NA19002.hp1 NA19004.hp2 NA19011.hp2 NA19064.hp2 NA19066.hp1 NA19080.hp2 NA19090.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0013 a0001c0043 a0003c0047	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(9): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0004t0001 a0001c0004t0002 a0001c0005t0002 a0001c0007t0002 a0001c0008t0001 a0001c0013t0003 a0001c0043t0001 a0003c0047t0001	a0001c0001t0002g0331 a0001c0001t0002g0335 a0001c0001t0002g0366 others(25): Show a0001c0001t0002g0331 a0001c0001t0002g0335 a0001c0001t0002g0366 a0001c0001t0002g0369 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0374 a0001c0002t0001g0295 a0001c0002t0002g0067 a0001c0002t0005g0370 a0001c0004t0001g0339 a0001c0004t0002g0327 a0001c0004t0002g0336 a0001c0005t0002g0068 a0001c0005t0002g0207 a0001c0005t0002g0296 a0001c0005t0002g0328 a0001c0005t0002g0329 a0001c0005t0002g0330 a0001c0005t0002g0375 a0001c0005t0002g0376 a0001c0007t0002g0332 a0001c0008t0001g0326 a0001c0008t0001g0334 a0001c0013t0003g0324 a0001c0013t0003g0325 a0001c0043t0001g0333 a0003c0047t0001g0373	28	410	0.0683	216	c.-13 others(233): Show c.-137+233_-137+234insGGGGCCGTGTTCCTGTCGTGGGAGGCGA CGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGTTCCTGTCGTGGGAG GCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGTCGTG GGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGT CGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGAC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	534178	T T	TGGGCCGT others(209): Show TGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCC CGGCGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGG GTCCCGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCC CGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGC GGCCCGGGGTCCCGACG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01070.hp2 HG00673.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0337 a0001c0003t0001g0355 a0001c0002t0002g0337 a0001c0003t0001g0355	2	410	0.0049	216	c.-13 others(233): Show c.-137+231_-137+232insGCGGGGCCGTGGTCCTGTCGTGGGAGGC GACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGG AGGCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGTCG TGGGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCT GTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCCCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	534178	T T	TGGGCCGT others(209): Show TGGGCCGTGTTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCC CGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGG GTCCCGACGGGGCCGTGTTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCC CGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGC GGCCCGGGGTCCCGACG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp1 HG03225.hp1 HG02647.hp1 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0255 a0001c0002t0004g0256 a0001c0002t0004g0257 a0001c0001t0003g0255 a0001c0002t0004g0256 a0001c0002t0004g0257	3	410	0.0073	216	c.-13 others(233): Show c.-137+188_-137+189insTTCCTGTCGTGGGAGGCGACGGTGAGGG CGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTG AGGGCGGCCCGGGGTCCCGACGGGGCCGTGTTCCTGTCGTGGGAGGCGAC GGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAGG CGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(209): Show CCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTC CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTC TCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG04199.hp1 HG00140.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0140 a0001c0002t0002g0099 a0001c0002t0002g0140	2	410	0.0049	216	c.-22 others(233): Show c.-22-2083_-22-2082insTCGTCTCCCCCACGTCGCCTCCCCCCAC GTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(209): Show AAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGAG AAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	364	0.0028	216	c.234 others(233): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(209): Show AAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG AGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAA GAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0090 a0001c0002t0003g0090	1	364	0.0028	216	c.234 others(233): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(209): Show AAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG AGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAA GAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	364	0.0028	216	c.234 others(233): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(209): Show AAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGA GAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	364	0.0028	216	c.234 others(233): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCC TCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761464	G G	GGGAAGGG others(209): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGG AAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAA GGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	364	0.0028	216	c.234 others(233): Show c.234+6843_234+6844insTCTCCTTCTCCTTCTCCTTCTCCTTCTT CTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761467	A A	AAGGGGAA others(209): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAG AAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGA GAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	364	0.0028	216	c.234 others(233): Show c.234+6840_234+6841insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761467	A A	AAGGGGAA others(209): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAG AAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGA GAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 NA18979.hp1 HG01515.hp2 HG01517.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112	3	364	0.0082	216	c.234 others(233): Show c.234+6840_234+6841insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744344	C C	CGGCACCA others(209): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGC ACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCAC CACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCA CGAGCAGGCATGTCCTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02818.hp1 HG04115.hp1 others(1): Show HG01934.hp1 HG02818.hp1 HG04115.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0016 a0001c0002 a0001c0003 a0001c0016	a0001c0002t0005 a0001c0002t0017 a0001c0003t0006 others(1): Show a0001c0002t0005 a0001c0002t0017 a0001c0003t0006 a0001c0016t0023	a0001c0002t0005g0036 a0001c0002t0017g0130 a0001c0003t0006g0228 others(1): Show a0001c0002t0005g0036 a0001c0002t0017g0130 a0001c0003t0006g0228 a0001c0016t0023g0236	4	236	0.0170	216	c.-77 others(235): Show c.-77+16141_-77+16356dupCAGGACATGCCTGCTCGTGGTGCCCA GGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGG ACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGAC ATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACAT GCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CBLC_chr19_44772890_44805652	44801335	C C	CCTCCCTC others(209): Show CCTCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTTCCTCAGACCC AGGAGTCCATACTGCAGCCCCTTCTCCCTCAGACCCAGGAGTCCAGGCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTCCC TCAGACCCAGGAGTCCATACTCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCATACTGCAGCCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	344	0.0029	216	c.79 others(225): Show c.792_*793insCTCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTC CTTCCTCAGACCCAGGAGTCCATACTGCAGCCCCTTCTCCCTCAGACCCA GGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTGC AGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTCCAGCCCCTCCTCCCT CAGACCCAGGAGTCCATACTGCAGCCCCTT	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		684		chr19	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(209): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCT CCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCG CTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	410	0.0024	216	c.-22 others(227): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(209): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCT CCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCG CTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	410	0.0024	216	c.-22 others(227): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar

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Search Results (Total: 10000 hits)