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
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(497): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGG AGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG AGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAG GAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGA GGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGA GGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAG GGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	301	0.0033	504	c.125 others(525): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCC CCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCTCC CCCCCTCCCCCCCCCTCCTCCCCCCCCCCTCCTCCTCCCCCCCTCCCCCT CCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCT CCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCT CCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTT CACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANKRD11_chr16_89262630_89495561	89429194	A A	ACGTTCTA others(497): Show ACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTA GTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTC AGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTC TAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACAC AGCAGGTACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGA CTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGATTCTCAAC TCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGC TCAGT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0033 a0005c0005t0001g0033	1	310	0.0032	504	c.-14 others(525): Show c.-144-10827_-144-10826insACTGAGCGTGAGAGTTGAGAGTCC CTGCTGTGTACTAGAACGACTGAGCGTGAGAGTTGAGAATCCCTGCTGTG TACTAGAACGTCTGAGCGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAA CGTCTGAGCGCGAGAGTTGAGAGTACCTGCTGTGTACTAGAACGTCTGAG CGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGCGAGAG TTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGAGT CCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGAGTCCCTGCTG TGTACTAGAACGTCTGAGCGCGAGAGTTGAGAGTCCCTGCTGTGTACTAG AACGTCTGAGCGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTG AGCGCGAGAGTTGAGAGTACCTGCTGTGTACTAGAACGTCTGAGCGTGAG AGTTGAGAGTCCCTGCTGTGTACTAGAACG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANXA2_chr15_60342151_60402986	60349889	A A	AGAAGGCA others(497): Show AGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAAGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAAGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAAGGAGGCAGGAG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAAGGA GGCAGGGGAAGGCAGGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	334	0.0030	504	c.838 others(519): Show c.838-693_838-692insCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC TCCTGCCTCCCTGCCTTCCCCTGCCTCCTTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCTC CTGCCTCCTTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCTTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349979	G G	GGAAGGCA others(497): Show GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAAGGCAAGGAGG CAGGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	334	0.0030	504	c.838 others(519): Show c.838-783_838-782insTCCTGCCTCCTTGCCTTCCCCTCCCTCTCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349993	C C	CAGGGGAA others(497): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	334	0.0030	504	c.838 others(519): Show c.838-797_838-796insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350033	G G	GGAAGGCA others(497): Show GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGGGAGG GGAAGGCAAGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	334	0.0030	504	c.838 others(519): Show c.838-837_838-836insTCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCTTGCCTTCCCCTCCCTCTCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350047	G G	GAGGGGAA others(497): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GAGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	334	0.0030	504	c.838 others(519): Show c.838-851_838-850insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCTCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350083	G G	GAGGGGAA others(497): Show GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	334	0.0030	504	c.838 others(519): Show c.838-887_838-886insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350119	G G	GAGGGGAA others(497): Show GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	334	0.0030	504	c.838 others(519): Show c.838-923_838-922insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(497): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	334	0.0030	504	c.838 others(519): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(497): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	334	0.0030	504	c.838 others(519): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(497): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0032 a0005c0006t0001g0032	1	334	0.0030	504	c.838 others(519): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ATG2B_chr14_96274195_96368341	96340103	A A	AATATATG others(497): Show AATATATGATATATATGAATATATATATCATATATGATATATATGAATAT ATATATCATATATGATATATATGAATATATATATCATATATGATATATAT GAATATATATATCATATATGATATATATGAATATATATATCATATATGAT ATATATGAATATATATATCATATATGATATATATGAATATATATATCATA TATGATATATATGAATATATATATCATATATGATATATATGAATATATAT ATCATATATGATATATATGAATATATATATCATATATGATATATATGAAT ATATATATCATATATGATATATATGAATATATATATCATATATGATATAT ATGAATATATATATCATATATGATATATATGAATATATATATCATATATG ATATATATGAATATATATATCATATATGATATATATGAATATATATATCA TATATGATATATATGAATATATATATCATATATGATATATATGAATATAT ATATC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0242 a0001c0003t0044g0242	1	356	0.0028	504	c.924 others(521): Show c.924+1418_924+1419insGATATATATATTCATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATATTCATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATATTCATATATATCATATATGATATATATA TTCATATATATCATATATGATATATATATTCATATATATCATATATGATA TATATATTCATATATATCATATATGATATATATATTCATATATATCATAT ATGATATATATATTCATATATATCATATATGATATATATATTCATATATA TCATATATGATATATATATTCATATATATCATATATGATATATATATTCA TATATATCATATATGATATATATATTCATATATATCATATATGATATATA TATTCATATATATCATATATGATATATATATTCATATATATCATATATGA TATATATATTCATATATATCATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(497): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCCCCACCCC CCACCTCCCCCACCTCCCCCCACCCCCCCACCCCCTCCCCCACCTCCCCC CACACCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACC TCCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCCA CCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCTA CCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCCACCTCCCCCCACC TCCCCCCACCCCCACACCCCCACCTCCCCCCACCCCCACCCCCCCCACCC CCACCCCCCACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCCACC CCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCCACCTCCCCCCACC CCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCC CCACC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0251 a0001c0004t0003g0251	1	254	0.0039	504	c.39+ others(521): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCC CCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCCACCCCCTCCCCCAC CTCCCCCCACACCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACC CCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCA CCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCCACCTCC CCCCACCTCCCCCCACCCCCACACCCCCACCTCCCCCCACCCCCACCCCC CCCACCCCCACCCCCCACCCCCCACCCCCCACCTCCCCCCACCCCCCACC CCCCACCCCCCACCTCCCCCCACCCCCACCTCCCCCCACCCCCCACCTCC CCCCACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCA CCTCCCCCCACCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79309250	C C	CGGAGGAG others(497): Show CGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGATGGAGGAGTGATCT CCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAG GTCAGGGGCTGAGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGG AGTGATCCCCAGCAGGGAGAAGGTCCGGGGCGGAGGAGTGATCCCCAGCA GGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGG GGCTGAGGAGTGATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGAT CCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGA AGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGA GGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAG CAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCA GGGAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0094 a0001c0004t0003g0094	1	298	0.0034	504	c.177 others(523): Show c.1773+2050_1773+2051insATGGAGGAGTGATCTCCAGCAGGTAG AAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTG AGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCA GCAGGGAGAAGGTCCGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGT GATCCTCCGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGT AGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGT TGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGATGGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82972164	C C	CAGGGGCC others(497): Show CAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGA AGGACCTGGTGCCGGCCACACCACACCACAGGGGCTAGAAGGACCTGGTG CCGACCACACCACACCACGGGCCAGAAGGACCTGGAGCCGACCACACCAC ACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGC CAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCT GGTGCCCACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCA CACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCAC AGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAA GGACCTGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGC TGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCAC ACCAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0244 a0001c0001t0036g0244	1	266	0.0038	504	c.460 others(521): Show c.460-6419_460-6418insATGGTGTGGTGTGTCGGCACCAGGTCCT TCTAGCCCCTGTGGTGTGGTGTGGTCAGCACCAGGTCCTTCTAGCCCCTG TGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGT GGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCA GGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCCTGTGGTGTGGTGTGGTGGGCACCAGGTCCTTCTGGCCCCTGTGGTG TGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCG GCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCTCCAGGTCC TTCTGGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGT GGTGTGGTGTGGCCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTG GTCAGTACCAGGTCCTTCTGGCCCCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83035887	G G	GGTGGAGG others(497): Show GGTGGAGGTCACTGGGCTGGACGCTTGGAGGGCGGTTTGCACGTGTGTGA TGAGCTGGTGGAGGTCACTGAGGTAGACACTCGGAGGGCGGTTTGCACGT GTGTGATGAGCTGGTGGAGGTCACTGGGCTGGACGCTTGGAGGGCAGTTT GCACGTGTGTGATGAGCTCGTGGAAGTCACTGAGGTAGACACTCGGAGGG CGGTTTGCACGTGTGTGATGGGCTGGTGGAGGTCACTGGGCTGGACGCTT GGAGGGCGGTTTGCACGTGTGTGATGAGCTGGTGGAGGTCACTGAGGTAG ACACTCGGAGGGCGGTTTGCACGTGTGTGATGAGCTGGTGGAGGTCACTG GGCTGGACGCTTGGAGGGCAGTTTGCACGTGTGTGATGAGCTCGTGGAAG TCACTGAGGTAGACACTCGGAGGGCGGTTTGCACGTGTGTGATGGGCTGG TGGAGGTCACTGGGCTGGACGCTTGGAGGGCGGTTTGCACGTGTGTGATG AGCTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02280.hp1 HG02451.hp1 others(5): Show HG01074.hp1 HG02280.hp1 HG02451.hp1 HG02818.hp1 HG02922.hp2 HG03516.hp1 HG03540.hp1 NA19240.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0025 a0004c0019 a0001c0003 a0003c0025 a0004c0019	a0001c0003t0014 a0001c0003t0015 a0001c0003t0020 others(3): Show a0001c0003t0014 a0001c0003t0015 a0001c0003t0020 a0001c0003t0034 a0003c0025t0011 a0004c0019t0004	a0001c0003t0014g0194 a0001c0003t0015g0198 a0001c0003t0015g0199 others(5): Show a0001c0003t0014g0194 a0001c0003t0015g0198 a0001c0003t0015g0199 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0003t0034g0197 a0003c0025t0011g0054 a0004c0019t0004g0193	8	266	0.0301	504	c.233 others(519): Show c.233-789_233-788insGAGCTCATCACACACGTGCAAACCGCCCTC CAAGCGTCCAGCCCAGTGACCTCCACCAGCCCATCACACACGTGCAAACC GCCCTCCGAGTGTCTACCTCAGTGACTTCCACGAGCTCATCACACACGTG CAAACTGCCCTCCAAGCGTCCAGCCCAGTGACCTCCACCAGCTCATCACA CACGTGCAAACCGCCCTCCGAGTGTCTACCTCAGTGACCTCCACCAGCTC ATCACACACGTGCAAACCGCCCTCCAAGCGTCCAGCCCAGTGACCTCCAC CAGCCCATCACACACGTGCAAACCGCCCTCCGAGTGTCTACCTCAGTGAC TTCCACGAGCTCATCACACACGTGCAAACTGCCCTCCAAGCGTCCAGCCC AGTGACCTCCACCAGCTCATCACACACGTGCAAACCGCCCTCCGAGTGTC TACCTCAGTGACCTCCACCAGCTCATCACACACGTGCAAACCGCCCTCCA AGCGTCCAGCCCAGTGACCTCCAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	375167	T T	TGGAAGGG others(497): Show TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	184	0.0054	504	c.784 others(519): Show c.784-265_784-264insTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAG3_chr10_119646380_119682819	119675887	T T	TCCTGCCC others(497): Show TCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCT TCCCCCTTTCCCCCTTCCCCCCTTCCTTCCTGCCCCCTTCCCCCTTGCCC CCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCTGCTTCCTTCC CCCTTCCCCTTCCCCCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCTTCC CCCTTCCCTCCTTCCTTCCTTCCTGCCCCCTTCTCCCCTTCCTTCCTTCC TTCCTTCCCCCTTTCCCCCTTCCCCCCTTCCTTCCTGCCCCCTTCCCCCT TGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCTGCTTC CTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTGCC CCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCC CTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCCTTTTCCCCCCT TCCCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	420	0.0024	504	c.910 others(519): Show c.910-574_910-573insGCCCCCTTCCCCCTTGCCCCCTTCTCCCCT TCCTTCCTTCCTTCCTTCCCCCTTTCCCCCTTCCCCCCTTCCTTCCTGCC CCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCC TTCCCTGCTTCCTTCCCCCTTCCCCTTCCCCCCTTCCTTCCTGCCCCCTT CCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCTTCT CCCCTTCCTTCCTTCCTTCCTTCCCCCTTTCCCCCTTCCCCCCTTCCTTC CTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTC CCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGC CCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCC CCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCT TCCCCTTTTCCCCCCTTCCCCCCT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf90_chr10_126419997_126675693	126672434	G G	GCAGGACT others(497): Show GCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACC CCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCA GCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGG TCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAG GACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGA GACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTA CCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCAT CAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACT GGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACC AGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCC GAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00621.hp1 others(27): Show HG00323.hp2 HG00544.hp2 HG00621.hp1 HG01099.hp1 HG01106.hp2 HG01192.hp2 HG01516.hp1 HG01517.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02293.hp1 HG02451.hp2 HG02698.hp1 HG02922.hp2 HG03195.hp2 HG03225.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18975.hp2 NA19000.hp1 NA19009.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010	a0001c0001 a0001c0008 a0002c0003 others(7): Show a0001c0001 a0001c0008 a0002c0003 a0002c0004 a0003c0002 a0004c0005 a0005c0006 a0006c0007 a0007c0016 a0010c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0008t0001 a0002c0003t0001 a0002c0003t0004 a0002c0004t0001 a0002c0004t0004 a0003c0002t0001 a0003c0002t0002 a0003c0002t0004 a0004c0005t0001 a0004c0005t0002 a0004c0005t0004 a0005c0006t0001 a0005c0006t0003 a0006c0007t0003 a0007c0016t0001 a0010c0019t0012	a0001c0001t0001g0054 a0001c0001t0001g0070 a0001c0001t0001g0137 others(27): Show a0001c0001t0001g0054 a0001c0001t0001g0070 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0002g0145 a0001c0001t0003g0143 a0001c0001t0004g0121 a0001c0008t0001g0062 a0002c0003t0001g0138 a0002c0003t0004g0115 a0002c0004t0001g0059 a0002c0004t0001g0063 a0002c0004t0001g0113 a0002c0004t0004g0128 a0003c0002t0001g0065 a0003c0002t0001g0120 a0003c0002t0001g0135 a0003c0002t0002g0041 a0003c0002t0004g0084 a0004c0005t0001g0045 a0004c0005t0002g0129 a0004c0005t0004g0073 a0004c0005t0004g0074 a0005c0006t0001g0069 a0005c0006t0003g0134 a0006c0007t0003g0114 a0007c0016t0001g0116 a0010c0019t0012g0125	30	218	0.1376	504	c.-19 others(515): Show c.-1955_-1954insGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCG GGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG GTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCA GTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGA TGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGT AGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCT CGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCC TGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGAC CAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCT GATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGG GTAGCTGATGACCAGTCCTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		1742		chr10	TogoVar
C10orf90_chr10_126419997_126675693	126672826	C C	CCAGGACT others(497): Show CCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACC CCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCA GCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGG TCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAG GACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGA GACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTA CCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCAT CAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACT GGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACC AGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCC GAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	218	0.0046	504	c.-23 others(515): Show c.-2347_-2346insTTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCG GGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG GTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCA GTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGA TGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGT AGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCT CGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCC TGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGAC CAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCT GATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGG GTAGCTGATGACCAGTCCTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		2134		chr10	TogoVar
C1QTNF8_chr16_1083226_1101244	1092970	C C	CCAATCCC others(497): Show CCAATCCCTGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCAGC GCTCAACCAATCACAGCACACAGTCGGCGCTCAACCAATCACTGCACACA GTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACGAATCCCTG CACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACCAA TCCCTGCACACAGTCGGCGCTCAACAAATCACAGCACACAGTCGGCGCTC AATCAATCCCTGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGTCG GCGCTCAACCAATCACTGCACACAGTCGGCGCTCAACCAATCACAGCACA CAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACGAATCCG TGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAACC AATCCCTGCACACAGTCGGCGCTCAACAAATCACAGCACACAGTCGGCGC TCAAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0150 a0001c0001t0023g0150	1	396	0.0025	504	c.4+ others(517): Show c.4+526_*4+527insATTGAGCGCCGACTGTGTGCTGTGATTTGTTG AGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGCAGGGAT TGATTGAGCGCCGACTGTGTGCACGGATTCGTTGAGCGCCGACTGTGTGC AGGGATTGATTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCCGACT GTGTGCAGTGATTGGTTGAGCGCCGACTGTGTGCACGGATTGGTTGAGCG CCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGTGCTGTGATTTGT TGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGTGCAGGG ATTGATTGAGCGCCGACTGTGTGCAGGGATTCGTTGAGCGCCGACTGTGT GCAGGGATTGATTGAGCGCCGACTGTGTGCAGTGATTGGTTGAGCGCCGA CTGTGTGCTGTGATTGGTTGAGCGCTGACTGTGTGCACGGATTGGTTGAG CGCCGACTGTGTGCAGGGATTG	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(497): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCCCTCCCCCCCCCCCGCCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGG CGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0164 a0003c0003t0001g0164	1	326	0.0031	504	c.144 others(521): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCTCC CCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CALN1_chr7_71774491_72417338	72209230	T T	TTCCTTCC others(497): Show TTCCTTCCCTCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTT CCTTCCCTCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCC TTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTT CCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCC TTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCT CCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCC CTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTT CCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCC CTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCT CCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCC CTCTT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	142	0.0070	504	c.244 others(523): Show c.244+69455_244+69456insAAGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGA AGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGA AGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAG GACGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGA CGGAGGGAAGGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAPN11_chr6_44153820_44189401	44181959	A A	ACACACAC others(497): Show ACACACACACACACTCACATACAGACACAACCACACCACACACACACACA CTCACAGACACAACCACACCACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACATACACACTCACATACAGACACAACCACACCACACT CACACACACACATACACACTCACATACAGACACAACCACACCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACATA CACACTCACATACAGACACAACCACACCACACTCACACACACATACACAC TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACATACACACTCACATACAG ACACAACCACACCACACACACACACACTCACATACAGACACAACCACACC ACACT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG01243.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0280 a0001c0001t0001g0034 a0001c0001t0001g0280	2	460	0.0044	504	c.193 others(521): Show c.1938+645_1938+646insCACACACTCACATACAGACACAACCACA CCACACACACACACACTCACAGACACAACCACACCACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACACATACACACTCACATACAGACACAA CCACACCACACACACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACACATACACACTCACATACAGACACAACCACACCACACTCACACACATA CACACTCACATACAGACACAACCACACCACACACACACACACTCACATAC AGACACAACCACACCACACTCACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGTC others(497): Show ACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCTCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0042 a0001c0004t0003g0042	1	410	0.0024	504	c.-22 others(521): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(497): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCGCCTCCCCCACGTCGCCTCCCCCACGTCG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCC CCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCG CCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG04115.hp1 HG01167.hp2 HG04115.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0112 a0001c0006t0001g0119 a0001c0006t0001g0112 a0001c0006t0001g0119	2	410	0.0049	504	c.-22 others(521): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC92_chr12_123930626_123977831	123945973	C C	CGCTGGCA others(497): Show CGCTGGCATCCCCCGCCATCCATTTCCAGTCCATGATGATCTTGCTGGCA TCCCCCGCCATCCATTTCCAGTCCATGATGATCTTGCTGGCATCCCCCGC CATCCATTTCCAGTCCATGATGATCTTGCTGGCATCCCCCGCCATCCATT TCCAGTCCATGATGATCTTGCTGGCATCCCCCGCCATCCATTTCCAGTCC ATGATGATCTTGCTGGCATCCCCCGCCATCCATTTCCAGTCCATGATGAT CTTGCTGGCATCCCCCGCCATCCATTTCCAGTCCATGATGATCTTGCTGG CATCCCCCGCCATCCATTTCCAGTCCATGATGATCTTGCTGGCATCCCCC GCCATCCATTTCCAGTCCATGATGATCTTGCTGGCATCCCCCGCCATCCA TTTCCAGTCCATGATGATCTTGCTGGCATCCCCCGCCATCCATTTCCAGT CCATGATGATCTTGCTGGCATCCCCCGCCATCCATTTCCAGTCCATGATG ATCTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0054 a0001c0001t0015g0054	1	250	0.0040	504	c.-59 others(521): Show c.-59-1610_-59-1609insAAGATCATCATGGACTGGAAATGGATGG CGGGGGATGCCAGCAAGATCATCATGGACTGGAAATGGATGGCGGGGGAT GCCAGCAAGATCATCATGGACTGGAAATGGATGGCGGGGGATGCCAGCAA GATCATCATGGACTGGAAATGGATGGCGGGGGATGCCAGCAAGATCATCA TGGACTGGAAATGGATGGCGGGGGATGCCAGCAAGATCATCATGGACTGG AAATGGATGGCGGGGGATGCCAGCAAGATCATCATGGACTGGAAATGGAT GGCGGGGGATGCCAGCAAGATCATCATGGACTGGAAATGGATGGCGGGGG ATGCCAGCAAGATCATCATGGACTGGAAATGGATGGCGGGGGATGCCAGC AAGATCATCATGGACTGGAAATGGATGGCGGGGGATGCCAGCAAGATCAT CATGGACTGGAAATGGATGGCGGGGGATGCCAGCAAGATCATCATGGACT GGAAATGGATGGCGGGGGATGCCAGC	CCDC92	ENSG00000119242.9	transcript	ENST00000238156.8	protein_coding	1/4			chr12	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(497): Show GTGTGTATACACATACATATATACATATGTGTGTGTGTATACACATACAT ATATACATATGTGTGTGTATGCACATACATATATACATATGTGTGTGTGT ATACACATACATATATACATATGTGTGTATACACACATATATACATATGT GTGTATACACATACATATATACATATGTGTGTGTATACACACATATATAC ATATGTGTGTGTATACACACACACATATGTATATATGTATGTGTATACAC ACACATATATGTATATATGTATGTGCATACACACACACACATGTATATAT GTATGTGTATACACATACATATATACATATGTGTGTGTATACACATACAT ATATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTGTGT GTATACACATACATATATACATATGTGTGTATACACACATATATACATAT GTGTGTATACACATACATATATACATATGTGTGTGTATACACACATATAT ACATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0043	1	168	0.0060	504	c.253 others(523): Show c.253-58771_253-58770insTATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACATATATGTATATGTG TATGTGCATACACACACACACATGTATATATGTATGTGTATACACACACA TATGTATATATGTATGTGTATACACATACATATATACATGTGTGTGTGTG TATGCACATACATATATACATATATGTGTGTGTATACACATACATATATA CATATGTGTGTGTGTATACACACACATATGTATATATGTGTGTATACACA CACATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTA TACACACATATGTATATATGTATGTGTATACACACACACATATGTATATA TGTATGTGCATACACACACATATGTATATATGTATGTGTATACACACACA CATATGTATATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(497): Show GTGTGTATACACATACATATATACATATGTGTGTGTGTATACACATACAT ATATACATATGTGTGTGTATGCACATACATATATACATATGTGTGTGTGT ATACACATACATATATACATATGTGTGTATACACACATATATACATATGT GTGTATACACATACATATATACATATGTGTGTGTGTATACACACATATAT ACATATGTGTGTGTATACACACACACATATGTATATATGTATGTGTATAC ACACACATATATGTATATATGTATGTGCATACACACACACACGTATATAT GTATGTGTATACACATACATATATACATATGTGTGTGTATACACATACAT ATATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTGTGT GTATACACATACATATATACATATGTGTGTATACACACATATATACATAT GTGTGTATACACATACATATATACATATGTGTGTGTATACACACATATAT ACATA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0147 a0001c0001t0055g0147	1	168	0.0060	504	c.253 others(523): Show c.253-58771_253-58770insTATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACATATATGTATATGTG TATGTGCATACACACACACACATGTATATATGTATGTGTATACACACACA TATGTATATATGTATGTGTATACACATACATATATACGTGTGTGTGTGTA TGCACATACATATATACATATATGTGTGTGTATACACATACATATATACA TATGTGTGTGTGTATACACACACATATGTATATATGTGTGTATACACACA CACATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTA TACACACATATGTATATATGTATGTGTATACACACACACATATGTATATA TGTATGTGCATACACACACATATGTATATATGTATGTGTATACACACACA CATATGTATATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(497): Show GTGTGTATACACATACATATATACATATGTGTGTGTGTATACACATACAT ATATACATATGTGTGTGTGTATGCACATACATATATACATATGTGTGTGT ATACACATACATATATACATATGTGTGTATACACACATATATACATATGT GTGTATACACATACATATATACATATGTGTGTGTATACACACATATATAC ATATGTGTGTGTATACACACACACATATGTATATATGTATGTGTATACAC ACACATATATGTATATATGTATGTGCATACACACACACACATGTATATAT GTATGTGTATACACATACATATATACATATGTGTGTGTATACACATACAT ATATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTGTGT GTATACACATACATATATACATATGTGTGTATACACACATATATACATAT GTGTGTATACACATACATATATACATATGTGTGTGTATACACACATATAT ACATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0064 a0001c0001t0038g0064	1	168	0.0060	504	c.253 others(523): Show c.253-58771_253-58770insTATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACATATATGTATATGTG TATGTGCATACACACACACACATGTATATATGTATGTGTATACACACACA TATGTATATATGTATGTGTATACACATACATATATACATGTGTGTGTGTG TATGCACATACATATATACATATATGTGTGTGTATACACATACATATATA CATATGTGTGTGTGTATACACACACATATGTATATATGTGTGTATACACA CACATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTA TACACACATATGTATATATGTATGTGTATACACACACATATGTATATATG TATGTGCATACACACACACATATGTATATATGTATGTGTATACACACACA CATATGTATATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(497): Show GTGTGTATACACATACATATATACATGTGTGTGTGTGTATACACATACAT ATATACATATGTGTGTGTATGCACATACATATATACATATGTGTGTGTGT ATACACATACATATATACATATGTGTGTATACACACATATATACATATGT GTGTATACACATACATATATACATATGTGTGTGTATACACACATATATAC ATATGTGTGTGTATACACACACACATATGTATATATGTATGTGTATACAC ACACATATATGTATATATGTATGTGCATACACACACACACATGTATATAT GTATGTGTATACACATACATATATACATATGTGTGTGTATACACATACAC ATATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTGTGT GTATACACATACATATATACATATGTGTGTATACACACATATATACATAT GTGTGTATACACATACATATATACATATGTGTGTGTATACACACATATAT ACATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	168	0.0060	504	c.253 others(523): Show c.253-58771_253-58770insTATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACATATATGTATATGTG TATGTGCATACACACACACACATGTATATGTGTATGTGTATACACACACA TATGTATATATGTATGTGTATACACATACATATATACATGTGTGTGTGTG TATGCACATACATATATACATATATGTGTGTGTATACACATACATATATA CATATGTGTGTGTGTATACACACACATATGTATATATGTGTGTATACACA CACATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTA TACACACATATGTATATATGTATGTGTATACACACACACATATGTATATA TGTATGTGCATACACACACATATGTATATATGTATGTGTATACACACACA CACATGTATATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CELF5_chr19_3219661_3302076	3235518	A A	ATGGATTG others(497): Show ATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGGTGGATGGAT GAATGGGTGGATGGATGGAAGGGTTTGTGGATGAATGGGTGGATGGATGG ATGGGTGTGTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT AGATGGGTGGATGGGTGGATGAATGATGGGTGGATGGGTGAGTGGGTGGA TATATGGGTGGGTGGATTGGTGAATGAATTGTGGGTGGATAGGTGGGTGG GTGGATGGGTGGATGGTGGGTGGTGGGTGAATGGGTGTGTATTTGGGTGA GTGAGTAGGTGGATGGATGGATGGGTGGATGAATAGGTGGGTGGGTGGAT GGATGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGGGTGA ATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGGGTGGATGAGT GGATGGGTGGATGGATGTGTGGATGGGTGGGTGGATGGATGAATGAATGG ATGGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	262	0.0038	504	c.259 others(523): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGAAGGGTTTGTGGAT GAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGGTGGATGGGTGGATGAATGATGGGTG GATGGGTGAGTGGGTGGATATATGGGTGGGTGGATTGGTGAATGAATTGT GGGTGGATAGGTGGGTGGGTGGATGGGTGGATGGTGGGTGGTGGGTGAAT GGGTGTGTATTTGGGTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGA ATAGGTGGGTGGGTGGATGGATGAATGAATGGATGGATGGATGAATAGGT GGGTGGGTGGATGGGTGAATGAATGGATGGATGGATGAATAGGTGGGTGG GTGGATGGGTGGATGAGTGGATGGGTGGATGGATGTGTGGATGGGTGGGT GGATGGATGAATGAATGGATGGGTGGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3235518	A A	ATGGATTG others(497): Show ATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGGTGGATGGAT GAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGAAGGGTGGGTAGGAGGATGAGTGGATGGAT GGGTGGATGGATAGATGGGTGGATGGGTGGATGAATGATGGGTGGATGGG TGAGTGGGTGGATATATGGGTGGGTGGATTGGTGAATGAATTGTGGGTGG ATAGGTGGGTGGGTGGATGGGTGGATGGTGGGTGGTGGGTGAATGGGTGT GTATTTGGGTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGAATAGGT GGGTGGGTGGATGGATGAATGAATGGATGGATGGATGAATAGGTGGGTGG GTGGATGGGTGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGAT GGGTGGATGAGTGGATGGGTGGATGGGTGGGTGGATGGATGAATGAATGG ATGGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG01358.hp2 others(43): Show HG00423.hp1 HG00597.hp2 HG01358.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01975.hp2 HG02040.hp2 HG02083.hp2 HG02132.hp2 HG02148.hp2 HG02293.hp2 HG02602.hp2 HG02738.hp1 HG02738.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18943.hp2 NA18944.hp1 NA18951.hp1 NA18964.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp2 NA19074.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0004 a0001c0009t0005	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0056 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0002g0012 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0004g0010 a0001c0001t0004g0071 a0001c0001t0004g0073 a0001c0001t0004g0076 a0001c0001t0004g0085 a0001c0001t0005g0072 a0001c0001t0005g0087 a0001c0001t0005g0092 a0001c0001t0005g0107 a0001c0001t0006g0070 a0001c0001t0006g0091 a0001c0001t0006g0096 a0001c0003t0001g0059 a0001c0003t0004g0261 a0001c0009t0005g0114	46	262	0.1756	504	c.259 others(523): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGATGGGTGTGTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGAAGGGTGGGTAG GAGGATGAGTGGATGGATGGGTGGATGGATAGATGGGTGGATGGGTGGAT GAATGATGGGTGGATGGGTGAGTGGGTGGATATATGGGTGGGTGGATTGG TGAATGAATTGTGGGTGGATAGGTGGGTGGGTGGATGGGTGGATGGTGGG TGGTGGGTGAATGGGTGTGTATTTGGGTGAGTGAGTAGGTGGATGGATGG ATGGGTGGATGAATAGGTGGGTGGGTGGATGGATGAATGAATGGATGGAT GGATGAATAGGTGGGTGGGTGGATGGGTGAATGAATGGATGGATGGATGA ATAGGTGGGTGGGTGGATGGGTGGATGAGTGGATGGGTGGATGGGTGGGT GGATGGATGAATGAATGGATGGGTGGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(497): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGC TAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTA ATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAAT ATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATAT TTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTT AAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAA GAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGA GATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGA TATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATA TTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATT AGCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02615.hp1 others(3): Show HG01884.hp2 HG01891.hp2 HG02615.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp2	a0010 a0016 a0017 a0010 a0016 a0017	a0010c0007 a0016c0052 a0016c0055 others(1): Show a0010c0007 a0016c0052 a0016c0055 a0017c0063	a0010c0007t0001 a0016c0052t0001 a0016c0055t0002 others(1): Show a0010c0007t0001 a0016c0052t0001 a0016c0055t0002 a0017c0063t0001	a0010c0007t0001g0194 a0010c0007t0001g0195 a0010c0007t0001g0196 others(3): Show a0010c0007t0001g0194 a0010c0007t0001g0195 a0010c0007t0001g0196 a0016c0052t0001g0017 a0016c0055t0002g0191 a0017c0063t0001g0213	6	216	0.0278	504	c.141 others(521): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAGATA TTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATT AGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAG CTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCT GCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGC TAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTA ATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAAT ATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATAT TTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTT AAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAA GAGATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966203	A A	GATATTAG others(497): Show GATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0156 a0009c0012t0001g0156	1	216	0.0046	504	c.141 others(521): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63			chrX	TogoVar
CHMP1A_chr16_89639435_89662708	89647691	G G	GACCCAGT others(497): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0168 a0001c0001t0007g0168	1	392	0.0026	504	c.253 others(519): Show c.253-361_253-360insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCA CTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647900	A A	AGACCCAG others(497): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGCAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	392	0.0026	504	c.253 others(519): Show c.253-570_253-569insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTGCTCCACCGACCCCGCGC TGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647901	C C	CACCCAGC others(497): Show CACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGC GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	392	0.0026	504	c.253 others(519): Show c.253-571_253-570insCCCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCGCTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648111	G G	GACCCAGT others(497): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGAC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	392	0.0026	504	c.253 others(519): Show c.253-781_253-780insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACT GGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCA CTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648320	A A	ACACCCAG others(497): Show ACACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAG AAAAGGCGGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCG GCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGG AGAAAAGGCGGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	392	0.0026	504	c.253 others(519): Show c.253-990_253-989insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCAC TGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTGTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTT TCTCCACCGACCCCGCGCTGGGTG	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648362	A A	ACACCCAG others(497): Show ACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCC AGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGGGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCGGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGAC GTGGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	392	0.0026	504	c.252 others(519): Show c.252+988_252+989insCCCACGTCGGCCGCCTTTTCTCCACCGACC CCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCC CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCGCTGGGTG	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648362	A A	ACACCCAG others(497): Show ACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCC AGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGGGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCGGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGAC GTGGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	392	0.0026	504	c.252 others(519): Show c.252+988_252+989insCCCACGTCGGCCGCCTTTTCTCCACCGACC CCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCC CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCGCTGGGTG	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648370	C C	CGCGGGGT others(497): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCG GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGT GGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGAC CCAGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	392	0.0026	504	c.252 others(519): Show c.252+980_252+981insACTGGGTCCCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTGTCCACGTCGGCCGCCTTTTCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGC TGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648421	G G	GGTGGAGA others(497): Show GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGG GGTCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	392	0.0026	504	c.252 others(519): Show c.252+929_252+930insGGACCCCGCGCTGGGTGTCCACGTCGGCGG CCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCT CCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCGGCCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648436	G G	GCCGACGT others(497): Show GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCGGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GGGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGAC CCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCG GGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGTCGGT GGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAA GGCCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	392	0.0026	504	c.252 others(519): Show c.252+914_252+915insTGGCCTTTTCTCCACCGACCCCGCGCTGGG TCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACG TCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGC CTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTCTC CACCGACCCCGCGCTGGGTCTCCCCGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCCCCACGTCGG	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(497): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCA ACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAAC CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCGCCCCT CCCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0021 a0021	a0021c0042 a0021c0042	a0021c0042t0001 a0021c0042t0001	a0021c0042t0001g0270 a0021c0042t0001g0270	1	428	0.0023	504	c.217 others(521): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCC CCGCCCCGCCCCGCCCCTCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(497): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACGTGTGTATA TACACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCA TATACGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CGTGTATATATACTCATATACATGTGTGTATATACGTGTATATATACTCA TATACATGTGTGTATATACGTGTATATATACTCATATACATGTGTGTATA TACGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	372	0.0027	504	c.894 others(519): Show c.894+741_894+742insACGTATATACACACATGTATATGAGTATAT ATACACGTATATACACACATGTATATGAGTATATATACACGTATATACAC ACATGTATATGAGTATATATACACGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACGTATATGAGTATATATACGTGTATATACAC ACGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATAT ACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACAC ATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLTCL1_chr22_19174473_19296719	19202393	A A	ACCCTCCT others(497): Show ACCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCC ATCCACGGCACCTCCCCCACCACCCCTCCTTCCGTCATCCACGGCACCTC CCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTC CTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCAC GGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCAC CACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCG CCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACC TCCCGCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCC TCCTTCCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGCCATCC ACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGC ACCAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0076 a0001c0002t0003g0076	1	346	0.0029	504	c.360 others(521): Show c.3601-901_3601-900insGTGGTGCGGGAGGTGCCGTGGATGGCGG AAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTG CGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTG GATGGCGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAG GGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAG GTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGC GGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGG TGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCG TGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGACGGAAGG AGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGG AGGTGCCGTGGATGGCGGAAGGAGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(497): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCC CCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTC TTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCC TCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCC TTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTT CCTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0179 a0001c0006t0013g0179	1	270	0.0037	504	c.162 others(525): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCC CCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCC CTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCC CCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCC TCTTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCTCC CTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCT CCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCC TCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)