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
CELA3A_chr1_21996657_22017542	22008152	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG00639.hp2 others(40): Show HG00423.hp1 HG00639.hp1 HG00639.hp2 HG01070.hp1 HG01074.hp2 HG01123.hp2 HG01167.hp1 HG01255.hp2 HG01257.hp1 HG01515.hp1 HG01981.hp2 HG02165.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG03195.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG04199.hp1 HG04199.hp2 NA18946.hp2 NA18960.hp2 NA18979.hp1 NA18985.hp1 NA18989.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19030.hp1 NA19058.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0002c0004 others(4): Show a0001c0001 a0001c0003 a0002c0004 a0002c0006 a0003c0002 a0006c0014 a0006c0015	a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 a0002c0006t0001 a0003c0002t0001 a0006c0014t0001 a0006c0015t0001	a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0082 others(23): Show a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0082 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0003t0001g0005 a0001c0003t0001g0029 a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0124 a0001c0003t0001g0130 a0001c0003t0001g0133 a0002c0004t0001g0107 a0002c0006t0001g0042 a0003c0002t0001g0034 a0006c0014t0001g0005 a0006c0015t0001g0026	43	419	0.1026	10	c.642 others(25): Show c.642+644_642+653dupTTTTTTTTTT	CELA3A	ENSG00000142789.20	transcript	ENST00000290122.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CELA3A_chr1_21996657_22017542	22010327	G G	GAAAAAAA others(3): Show GAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0108 a0001c0003t0001g0108	1	419	0.0024	10	c.795 others(25): Show c.795+471_795+472insAAAAAAAAAA	CELA3A	ENSG00000142789.20	transcript	ENST00000290122.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CELA3B_chr1_21972022_21994354	21972030	G G	GGGGTGGT others(3): Show GGGGTGGTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	444	0.0023	10	c.-50 others(21): Show c.-5010_-5009insGGGTGGTGGC	CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding		4991		chr1	TogoVar
CELA3B_chr1_21972022_21994354	21972454	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00639.hp2 others(28): Show HG00423.hp1 HG00558.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01123.hp1 HG01255.hp2 HG01515.hp2 HG01517.hp1 HG01978.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02738.hp1 HG02809.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03704.hp2 HG03927.hp1 HG04204.hp2 NA18946.hp1 NA18955.hp1 NA18983.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0000 a0001 a0003 a0000 a0001 a0003	a0000c0018 a0000c0019 a0001c0001 others(2): Show a0000c0018 a0000c0019 a0001c0001 a0001c0003 a0003c0004	a0000c0018t0002 a0000c0019t0002 a0001c0001t0001 others(2): Show a0000c0018t0002 a0000c0019t0002 a0001c0001t0001 a0001c0003t0001 a0003c0004t0001	a0000c0018t0002g0173 a0000c0019t0002g0174 a0001c0001t0001g0001 others(21): Show a0000c0018t0002g0173 a0000c0019t0002g0174 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0001g0108 a0001c0001t0001g0138 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0003t0001g0009 a0001c0003t0001g0060 a0003c0004t0001g0116	31	444	0.0698	10	c.-45 others(21): Show c.-4586_-4585insAAAAAAAAAA	CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding		4567		chr1	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02818.hp2 others(2): Show HG02258.hp1 HG02280.hp2 HG02818.hp2 HG03225.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0026 a0001c0001t0003g0087 a0001c0001t0004g0003 others(2): Show a0001c0001t0001g0026 a0001c0001t0003g0087 a0001c0001t0004g0003 a0001c0001t0004g0005 a0001c0001t0008g0099	5	340	0.0147	10	c.72- others(23): Show c.72-921_72-912dupAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF1_chr11_47460937_47558132	47547065	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02698.hp2 HG03130.hp1 others(2): Show HG02258.hp2 HG02698.hp2 HG03130.hp1 NA18953.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0122 a0001c0001t0001g0202 a0001c0001t0001g0207 others(2): Show a0001c0001t0001g0122 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0005g0188 a0001c0001t0005g0189	5	340	0.0147	10	c.-15 others(29): Show c.-154+5917_-154+5926dupTTTTTTTTTT	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CELF2_chr10_11012872_11341675	11025235	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0080 a0001c0001t0011g0080	1	194	0.0052	10	c.74+ others(25): Show c.74+7073_74+7074insATATATATAT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11025237	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0037 a0001c0002t0014g0037	1	194	0.0052	10	c.74+ others(25): Show c.74+7075_74+7076insATATATATAT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11025239	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01978.hp2 HG02300.hp1 others(1): Show HG01496.hp1 HG01978.hp2 HG02300.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0026 a0001c0001t0011g0157 a0001c0002t0002g0027 others(1): Show a0001c0001t0001g0026 a0001c0001t0011g0157 a0001c0002t0002g0027 a0001c0002t0008g0028	4	194	0.0206	10	c.74+ others(25): Show c.74+7077_74+7078insGTGTGTGTAT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11032146	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp1 HG03486.hp2 others(3): Show HG02965.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG04204.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0017 a0001c0001t0021 others(3): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0021 a0001c0001t0035 a0001c0003t0005 a0001c0004t0001	a0001c0001t0001g0139 a0001c0001t0017g0153 a0001c0001t0021g0076 others(3): Show a0001c0001t0001g0139 a0001c0001t0017g0153 a0001c0001t0021g0076 a0001c0001t0035g0095 a0001c0003t0005g0064 a0001c0004t0001g0077	6	194	0.0309	10	c.74+ others(27): Show c.74+13999_74+14008dupAAAAAAAAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11054489	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19084.hp2 HG02129.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0012 a0001c0002t0001 a0001c0004t0012	a0001c0002t0001g0176 a0001c0004t0012g0182 a0001c0002t0001g0176 a0001c0004t0012g0182	2	194	0.0103	10	c.74+ others(27): Show c.74+36350_74+36359dupGTGTGTGTGT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11054507	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02698.hp2 HG02809.hp2 others(1): Show HG02647.hp1 HG02698.hp2 HG02809.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0008 a0001c0002 a0001c0004 a0001c0008	a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0001c0008t0003	a0001c0002t0002g0049 a0001c0002t0003g0048 a0001c0004t0001g0072 others(1): Show a0001c0002t0002g0049 a0001c0002t0003g0048 a0001c0004t0001g0072 a0001c0008t0003g0166	4	194	0.0206	10	c.74+ others(27): Show c.74+36353_74+36354insATGTGTGTGT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11086578	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0147 a0001c0002t0004g0147	1	194	0.0052	10	c.74+ others(27): Show c.74+68438_74+68447dupAAAAAAAAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11119864	T T	TCTCCCCC others(3): Show TCTCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp2 NA20300.hp1 HG02257.hp2 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022	a0001c0001t0017g0153 a0001c0001t0020g0036 a0001c0001t0022g0022 a0001c0001t0017g0153 a0001c0001t0020g0036 a0001c0001t0022g0022	3	194	0.0155	10	c.75- others(27): Show c.75-45621_75-45620insTCCCCCCCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11148843	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02257.hp1 HG02559.hp2 others(5): Show HG01433.hp2 HG02257.hp1 HG02559.hp2 HG03041.hp1 HG03225.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0010 a0001c0001t0020 others(4): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0020 a0001c0001t0025 a0001c0002t0007 a0001c0002t0009 a0001c0003t0001	a0001c0001t0003g0071 a0001c0001t0003g0171 a0001c0001t0010g0015 others(5): Show a0001c0001t0003g0071 a0001c0001t0003g0171 a0001c0001t0010g0015 a0001c0001t0020g0036 a0001c0001t0025g0012 a0001c0002t0007g0058 a0001c0002t0009g0057 a0001c0003t0001g0046	8	194	0.0412	10	c.75- others(27): Show c.75-16621_75-16612dupCACACACACA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197004	G G	GAAAGAAA others(3): Show GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp1 HG02080.hp2 HG01106.hp2 HG01358.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0016 a0001c0002t0045 a0001c0001t0008 a0001c0002t0016 a0001c0002t0045	a0001c0001t0008g0081 a0001c0002t0016g0035 a0001c0002t0045g0099 a0001c0001t0008g0081 a0001c0002t0016g0035 a0001c0002t0045g0099	3	194	0.0155	10	c.272 others(29): Show c.272-20419_272-20410dupAAGAAAGAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11202901	A A	ATCTCTCT others(3): Show ATCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	194	0.0052	10	c.272 others(29): Show c.272-14482_272-14473dupCTCTCTCTCT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11259699	A A	ATTAGCTG others(3): Show ATTAGCTGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0105 a0001c0002t0003g0105	1	194	0.0052	10	c.538 others(27): Show c.538+1828_538+1829insTAGCTGCCTT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11280982	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	194	0.0052	10	c.841 others(27): Show c.841+5868_841+5869insTGTGTGTGTG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11280989	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02109.hp1 HG02258.hp2 others(4): Show HG01981.hp2 HG02109.hp1 HG02258.hp2 HG02559.hp2 HG02647.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0019 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0019 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0003t0023	a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0019g0047 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0019g0047 a0001c0002t0001g0112 a0001c0002t0003g0048 a0001c0002t0009g0057 a0001c0003t0023g0155	7	194	0.0361	10	c.841 others(27): Show c.841+5892_841+5901dupGTGTGTGTGT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11285826	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0130 a0001c0003t0004g0130	1	194	0.0052	10	c.842 others(27): Show c.842-2549_842-2540dupGTGTGTGTGT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF4_chr18_37238040_37570798	37247339	T T	TAGAGAGA others(3): Show TAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG03195.hp2 others(1): Show HG02055.hp2 HG02647.hp2 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0012 a0001c0002t0010 others(1): Show a0001c0001t0008 a0001c0001t0012 a0001c0002t0010 a0001c0002t0012	a0001c0001t0008g0125 a0001c0001t0012g0026 a0001c0002t0010g0060 others(1): Show a0001c0001t0008g0125 a0001c0001t0012g0026 a0001c0002t0010g0060 a0001c0002t0012g0047	4	184	0.0217	10	c.45 others(27): Show c.45-2152_*45-2143dupCTCTCTCTCT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	12/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37335482	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18906.hp1 HG02258.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0024 a0001c0001t0019 a0001c0001t0024	a0001c0001t0019g0043 a0001c0001t0024g0049 a0001c0001t0019g0043 a0001c0001t0024g0049	2	184	0.0109	10	c.370 others(29): Show c.370-13611_370-13602dupACACACACAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37338759	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18983.hp1 NA19005.hp1 HG01192.hp2 NA18983.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0002t0013 a0001c0001t0002 a0001c0002t0005 a0001c0002t0013	a0001c0001t0002g0066 a0001c0002t0005g0174 a0001c0002t0013g0013 a0001c0001t0002g0066 a0001c0002t0005g0174 a0001c0002t0013g0013	3	184	0.0163	10	c.370 others(29): Show c.370-16888_370-16879dupACACACACAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37343329	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA20905.hp1 HG02109.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0019 a0001c0002t0003 a0001c0002t0019	a0001c0002t0003g0118 a0001c0002t0019g0037 a0001c0002t0003g0118 a0001c0002t0019g0037	2	184	0.0109	10	c.370 others(29): Show c.370-21458_370-21449dupCACACACACA	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37353233	A A	AAAATATA others(3): Show AAAATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp1 HG01433.hp2 others(8): Show HG01070.hp2 HG01074.hp1 HG01433.hp2 HG02074.hp2 HG02486.hp2 HG03041.hp2 HG03195.hp1 HG03704.hp2 NA18982.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0040 a0001c0002t0010	a0001c0001t0001g0075 a0001c0001t0001g0126 a0001c0001t0002g0151 others(8): Show a0001c0001t0001g0075 a0001c0001t0001g0126 a0001c0001t0002g0151 a0001c0001t0003g0100 a0001c0001t0004g0008 a0001c0001t0004g0014 a0001c0001t0007g0127 a0001c0001t0008g0112 a0001c0001t0017g0040 a0001c0001t0040g0097 a0001c0002t0010g0063	11	184	0.0598	10	c.370 others(29): Show c.370-31353_370-31352insATATATATTT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37423064	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0122 a0001c0001t0039g0122	1	184	0.0054	10	c.369 others(29): Show c.369+62451_369+62460dupTGTGTGTGTG	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37441273	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0123 a0001c0001t0042g0123	1	184	0.0054	10	c.369 others(29): Show c.369+44242_369+44251dupCACACACACA	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37444617	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00642.hp1 others(30): Show HG00099.hp2 HG00438.hp2 HG00642.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01934.hp1 HG01978.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02602.hp2 HG02683.hp2 HG02738.hp1 HG02809.hp2 HG03490.hp1 HG03492.hp2 HG03704.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 NA18961.hp2 NA18971.hp2 NA18983.hp2 NA19062.hp2 NA19065.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0021 a0001c0001t0033 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0002t0036	a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0001g0071 others(30): Show a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0104 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0168 a0001c0001t0001g0182 a0001c0001t0002g0095 a0001c0001t0002g0109 a0001c0001t0002g0133 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0165 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0003g0053 a0001c0001t0004g0012 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0005g0105 a0001c0001t0009g0028 a0001c0001t0021g0077 a0001c0001t0021g0078 a0001c0001t0033g0164 a0001c0001t0034g0087 a0001c0002t0001g0052 a0001c0002t0001g0134 a0001c0002t0003g0073 a0001c0002t0010g0063 a0001c0002t0036g0150	33	184	0.1794	10	c.369 others(29): Show c.369+40898_369+40907dupGTGTGTGTGT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37470871	T T	TGACAGAG others(3): Show TGACAGAGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0156 a0001c0002t0022g0156	1	184	0.0054	10	c.369 others(29): Show c.369+14653_369+14654insTCTCTCTGTC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37547160	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02683.hp1 HG02818.hp1 others(4): Show HG02622.hp2 HG02683.hp1 HG02818.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 a0001c0001t0031 a0001c0001t0039 a0001c0001t0042	a0001c0001t0001g0158 a0001c0001t0004g0042 a0001c0001t0006g0041 others(4): Show a0001c0001t0001g0158 a0001c0001t0004g0042 a0001c0001t0006g0041 a0001c0001t0019g0043 a0001c0001t0031g0034 a0001c0001t0039g0122 a0001c0001t0042g0123	7	184	0.0380	10	c.286 others(29): Show c.286+18186_286+18195dupACACACACAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37558806	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03516.hp1 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0129 a0001c0001t0025g0162 a0001c0001t0025g0129 a0001c0001t0025g0162	2	184	0.0109	10	c.286 others(27): Show c.286+6540_286+6549dupACACACACAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12			chr18	TogoVar
CELF5_chr19_3219661_3302076	3226440	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02300.hp1 HG02486.hp2 others(14): Show HG02148.hp1 HG02300.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02895.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18964.hp2 NA19074.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0004 a0001c0007t0002	a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0001t0001g0146 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0256 a0001c0001t0002g0053 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0247 a0001c0001t0003g0149 a0001c0002t0001g0046 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0004g0047 a0001c0003t0004g0237 a0001c0007t0002g0144	17	262	0.0649	10	c.259 others(27): Show c.259+1469_259+1478dupCACACACACA	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3228875	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0203	1	262	0.0038	10	c.259 others(27): Show c.259+3908_259+3917dupGTGTGTGTGT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3228915	T T	TGTGTGTG others(3): Show TGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	262	0.0038	10	c.259 others(27): Show c.259+3917_259+3918insGTGTGTGTGC	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12			chr19	TogoVar
CELSR1_chr22_46356174_46542620	46416100	T T	TTCGCGGG others(3): Show TTCGCGGGGGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 homoSapiens_chm13v2.hp1 HG01261.hp2 homoSapiens_chm13v2.hp1	a0008 a0033 a0008 a0033	a0008c0014 a0033c0035 a0008c0014 a0033c0035	a0008c0014t0002 a0033c0035t0002 a0008c0014t0002 a0033c0035t0002	a0008c0014t0002g0016 a0033c0035t0002g0066 a0008c0014t0002g0016 a0033c0035t0002g0066	2	104	0.0192	10	c.461 others(29): Show c.4612-4342_4612-4341insCCCCCCGCGA	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	5/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46416108	G G	GGGGGGGG others(3): Show GGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03195.hp2 NA20300.hp1 HG01106.hp1 HG03195.hp2 NA20300.hp1	a0003 a0026 a0031 a0003 a0026 a0031	a0003c0005 a0026c0038 a0031c0022 a0003c0005 a0026c0038 a0031c0022	a0003c0005t0002 a0026c0038t0008 a0031c0022t0004 a0003c0005t0002 a0026c0038t0008 a0031c0022t0004	a0003c0005t0002g0065 a0026c0038t0008g0026 a0031c0022t0004g0039 a0003c0005t0002g0065 a0026c0038t0008g0026 a0031c0022t0004g0039	3	104	0.0289	10	c.461 others(29): Show c.4612-4350_4612-4349insGCCCCCCCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	5/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46460205	A A	ACACCCAC others(3): Show ACACCCACACC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02027.hp2 HG01258.hp2 HG02027.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0054 a0001c0002 a0009c0054	a0001c0002t0001 a0009c0054t0001 a0001c0002t0001 a0009c0054t0001	a0001c0002t0001g0015 a0009c0054t0001g0089 a0001c0002t0001g0015 a0009c0054t0001g0089	2	104	0.0192	10	c.418 others(29): Show c.4183+3501_4183+3502insGGTGTGGGTG	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	2/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46460211	A A	ACACACAC others(3): Show ACACACACACC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0049 a0049	a0049c0062 a0049c0062	a0049c0062t0013 a0049c0062t0013	a0049c0062t0013g0100 a0049c0062t0013g0100	1	104	0.0096	10	c.418 others(29): Show c.4183+3495_4183+3496insGGTGTGTGTG	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	2/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46524541	C C	CGCGTGTG others(3): Show CGCGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0015 a0004c0003t0015	a0004c0003t0015g0010 a0004c0003t0015g0010	1	104	0.0096	10	c.354 others(29): Show c.3544+9085_3544+9086insACACACACGC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CEL_chr9_133056981_133076861	133075333	A A	AAAAAAAA others(3): Show AAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0010 a0010	a0010c0236 a0010c0236	a0010c0236t0001 a0010c0236t0001	a0010c0236t0001g0001 a0010c0236t0001g0001	1	416	0.0024	10	c.35 others(21): Show c.3569_*3570insAAAAAAAAAG	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding		3473		chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71683549	C C	CACACACT others(3): Show CACACACTCAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(135): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp2 NA18953.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011	a0001c0001 a0001c0009 a0001c0015 others(23): Show a0001c0001 a0001c0009 a0001c0015 a0001c0029 a0001c0038 a0002c0002 a0002c0008 a0002c0034 a0003c0005 a0003c0012 a0004c0003 a0005c0004 a0005c0017 a0006c0006 a0006c0021 a0006c0027 a0006c0037 a0006c0039 a0007c0010 a0007c0014 a0007c0018 a0007c0024 a0007c0025 a0008c0011 a0009c0016 a0011c0019	a0001c0001t0001 a0001c0001t0010 a0001c0001t0039 others(36): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0039 a0001c0001t0054 a0001c0009t0001 a0001c0015t0001 a0001c0029t0001 a0001c0038t0010 a0002c0002t0001 a0002c0002t0010 a0002c0008t0001 a0002c0034t0001 a0003c0005t0001 a0003c0012t0001 a0003c0012t0049 a0004c0003t0001 a0004c0003t0010 a0005c0004t0001 a0005c0004t0011 a0005c0004t0032 a0005c0017t0001 a0006c0006t0001 a0006c0006t0004 a0006c0006t0009 a0006c0021t0009 a0006c0027t0009 a0006c0037t0004 a0006c0039t0009 a0007c0010t0004 a0007c0010t0009 a0007c0010t0028 a0007c0014t0009 a0007c0014t0035 a0007c0018t0004 a0007c0024t0009 a0007c0025t0009 a0008c0011t0030 a0009c0016t0004 a0011c0019t0001	a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0115 others(135): Show a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0241 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0010g0029 a0001c0001t0010g0128 a0001c0001t0010g0132 a0001c0001t0010g0243 a0001c0001t0010g0303 a0001c0001t0010g0319 a0001c0001t0039g0240 a0001c0001t0054g0084 a0001c0009t0001g0245 a0001c0009t0001g0250 a0001c0015t0001g0027 a0001c0015t0001g0176 a0001c0029t0001g0155 a0001c0038t0010g0268 a0002c0002t0001g0034 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0050 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0001g0081 a0002c0002t0001g0150 a0002c0002t0001g0295 a0002c0002t0010g0073 a0002c0008t0001g0088 a0002c0034t0001g0083 a0003c0005t0001g0102 a0003c0005t0001g0104 a0003c0005t0001g0112 a0003c0005t0001g0119 a0003c0005t0001g0126 a0003c0005t0001g0127 a0003c0012t0001g0110 a0003c0012t0001g0111 a0003c0012t0001g0117 a0003c0012t0001g0118 a0003c0012t0049g0096 a0004c0003t0001g0122 a0004c0003t0001g0156 a0004c0003t0001g0167 a0004c0003t0001g0173 a0004c0003t0001g0186 a0004c0003t0001g0198 a0004c0003t0001g0208 a0004c0003t0001g0293 a0004c0003t0010g0209 a0005c0004t0001g0231 a0005c0004t0001g0232 a0005c0004t0001g0233 a0005c0004t0011g0005 a0005c0004t0011g0006 a0005c0004t0011g0008 a0005c0004t0011g0009 a0005c0004t0011g0010 a0005c0004t0011g0014 a0005c0004t0011g0017 a0005c0004t0011g0022 a0005c0004t0032g0012 a0005c0017t0001g0230 a0006c0006t0001g0308 a0006c0006t0004g0134 a0006c0006t0004g0141 a0006c0006t0004g0147 a0006c0006t0004g0160 a0006c0006t0004g0164 a0006c0006t0004g0184 a0006c0006t0004g0206 a0006c0006t0004g0296 a0006c0006t0004g0298 a0006c0006t0009g0259 a0006c0021t0009g0306 a0006c0021t0009g0307 a0006c0027t0009g0258 a0006c0037t0004g0235 a0006c0039t0009g0090 a0007c0010t0004g0035 a0007c0010t0004g0036 a0007c0010t0004g0197 a0007c0010t0004g0199 a0007c0010t0009g0045 a0007c0010t0028g0046 a0007c0010t0028g0047 a0007c0014t0009g0087 a0007c0014t0035g0093 a0007c0018t0004g0272 a0007c0024t0009g0273 a0007c0025t0009g0079 a0008c0011t0030g0021 a0009c0016t0004g0135 a0009c0016t0004g0181 a0011c0019t0001g0183 a0011c0019t0001g0188	138	320	0.4313	10	c.16 others(21): Show c.1647_*1648insTTGAGTGTGT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	24/24	1647		chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71687462	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01070.hp2 others(9): Show HG00438.hp1 HG00438.hp2 HG01070.hp2 HG01071.hp1 HG01261.hp1 HG01515.hp2 HG02257.hp2 HG03704.hp1 NA18964.hp1 NA19030.hp2 NA19090.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0005 others(3): Show a0001c0001 a0002c0002 a0003c0005 a0004c0003 a0005c0004 a0005c0017	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0003c0005t0001 a0004c0003t0014 a0004c0003t0046 a0005c0004t0011 a0005c0004t0023 a0005c0017t0001	a0001c0001t0001g0154 a0001c0001t0001g0175 a0001c0001t0001g0279 others(9): Show a0001c0001t0001g0154 a0001c0001t0001g0175 a0001c0001t0001g0279 a0001c0001t0003g0177 a0002c0002t0001g0050 a0003c0005t0001g0104 a0004c0003t0014g0158 a0004c0003t0014g0179 a0004c0003t0046g0157 a0005c0004t0011g0009 a0005c0004t0023g0024 a0005c0017t0001g0230	12	320	0.0375	10	c.385 others(29): Show c.3852-1626_3852-1617dupCACACACACA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	22/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71692365	A A	ATCTCTCT others(3): Show ATCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG02717.hp2 others(14): Show HG02486.hp2 HG02630.hp2 HG02717.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA18954.hp2 NA18961.hp1 NA18969.hp1 NA18969.hp2 NA19079.hp1 NA19086.hp2 NA19240.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0008	a0001c0001 a0001c0013 a0001c0038 others(4): Show a0001c0001 a0001c0013 a0001c0038 a0002c0007 a0006c0006 a0007c0018 a0008c0011	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(13): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0001t0042 a0001c0001t0050 a0001c0001t0052 a0001c0013t0020 a0001c0038t0010 a0002c0007t0008 a0006c0006t0001 a0006c0006t0004 a0007c0018t0004 a0007c0018t0038 a0008c0011t0015	a0001c0001t0002g0315 a0001c0001t0006g0266 a0001c0001t0008g0061 others(14): Show a0001c0001t0002g0315 a0001c0001t0006g0266 a0001c0001t0008g0061 a0001c0001t0010g0303 a0001c0001t0020g0062 a0001c0001t0020g0312 a0001c0001t0042g0026 a0001c0001t0050g0107 a0001c0001t0052g0212 a0001c0013t0020g0267 a0001c0038t0010g0268 a0002c0007t0008g0274 a0006c0006t0001g0308 a0006c0006t0004g0134 a0007c0018t0004g0272 a0007c0018t0038g0282 a0008c0011t0015g0007	17	320	0.0531	10	c.369 others(29): Show c.3697-2129_3697-2120dupGAGAGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	21/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71715625	G G	GAGATATA others(3): Show GAGATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG02922.hp2 others(1): Show HG02280.hp2 HG02723.hp1 HG02922.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0008 a0001c0001t0013 a0001c0001t0041 others(1): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0041 a0001c0026t0025	a0001c0001t0008g0225 a0001c0001t0013g0227 a0001c0001t0041g0224 others(1): Show a0001c0001t0008g0225 a0001c0001t0013g0227 a0001c0001t0041g0224 a0001c0026t0025g0223	4	320	0.0125	10	c.243 others(27): Show c.2436-537_2436-536insATATATATCT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	14/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71715625	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01070.hp2 others(44): Show HG00609.hp1 HG00609.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01175.hp2 HG01255.hp1 HG01358.hp2 HG01515.hp2 HG01928.hp1 HG01975.hp2 HG02004.hp1 HG02071.hp1 HG02071.hp2 HG02258.hp2 HG03669.hp1 HG03834.hp1 HG04115.hp1 NA18944.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18961.hp1 NA18962.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18983.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19043.hp2 NA19070.hp2 NA19079.hp1 NA19083.hp1 NA19086.hp1 NA19089.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0008 a0011	a0001c0001 a0001c0015 a0004c0003 others(5): Show a0001c0001 a0001c0015 a0004c0003 a0005c0004 a0006c0006 a0006c0033 a0008c0011 a0011c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0052 a0001c0015t0001 a0004c0003t0014 a0004c0003t0046 a0004c0003t0051 a0005c0004t0001 a0005c0004t0007 a0005c0004t0011 a0005c0004t0022 a0005c0004t0034 a0006c0006t0004 a0006c0033t0057 a0008c0011t0015 a0011c0019t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 others(44): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0205 a0001c0001t0002g0109 a0001c0001t0002g0125 a0001c0001t0002g0137 a0001c0001t0002g0145 a0001c0001t0002g0165 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0194 a0001c0001t0002g0315 a0001c0001t0003g0108 a0001c0001t0003g0202 a0001c0001t0005g0217 a0001c0001t0005g0228 a0001c0001t0007g0213 a0001c0001t0012g0204 a0001c0001t0052g0212 a0001c0015t0001g0176 a0004c0003t0014g0158 a0004c0003t0014g0179 a0004c0003t0046g0157 a0004c0003t0051g0210 a0005c0004t0001g0233 a0005c0004t0007g0131 a0005c0004t0011g0006 a0005c0004t0011g0017 a0005c0004t0011g0022 a0005c0004t0022g0020 a0005c0004t0034g0019 a0006c0006t0004g0134 a0006c0006t0004g0147 a0006c0006t0004g0160 a0006c0006t0004g0164 a0006c0006t0004g0184 a0006c0006t0004g0206 a0006c0033t0057g0025 a0008c0011t0015g0007 a0008c0011t0015g0015 a0008c0011t0015g0016 a0008c0011t0015g0023 a0011c0019t0001g0183	47	320	0.1469	10	c.243 others(27): Show c.2436-546_2436-537dupATATATATAT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	14/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728226	T T	TATATATA others(3): Show TATATATATAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0014 a0004c0003t0014	a0004c0003t0014g0030 a0004c0003t0014g0030	1	320	0.0031	10	c.204 others(29): Show c.2049+1618_2049+1619insGTATATATAT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728242	T T	TGTATATA others(3): Show TGTATATACAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	320	0.0031	10	c.204 others(29): Show c.2049+1602_2049+1603insGTGTATATAC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728275	A A	ATATATAT others(3): Show ATATATATACG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0117 a0003c0012t0001g0117	1	320	0.0031	10	c.204 others(29): Show c.2049+1569_2049+1570insCGTATATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71734208	G G	GGTTTTTT others(3): Show GGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG01109.hp1 HG02257.hp2	a0005 a0008 a0005 a0008	a0005c0017 a0008c0022 a0005c0017 a0008c0022	a0005c0017t0001 a0008c0022t0036 a0005c0017t0001 a0008c0022t0036	a0005c0017t0001g0230 a0008c0022t0036g0280 a0005c0017t0001g0230 a0008c0022t0036g0280	2	320	0.0063	10	c.139 others(27): Show c.1393+597_1393+598insAAAAAAAAAC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	6/23			chr9	TogoVar

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